Phenotypic Mutations

150 mutations affecting 114 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 150] per page Full List
 




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Verification Probability

Phenotypic Category

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1 UTSW
has photohas video
Ctsl 1.000 patch 13 64359337-64370890 bp (-) 64366623 Autosomal Recessive (13;265)
Autosomal Semidominant (1;5)
0.983 2021-03-22
External Program
FACS B1 cells - decreased
FACS B1a cells - decreased
FACS B1a cells in B1 cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - increased
FACS T cells - decreased
skin/coat/nails
T ⇒ A nonsense probably null
2 UTSW Rac2 0.000 Potter 15 78559167-78572783 bp (-) 78570743 Autosomal Recessive (4;19)
Autosomal Semidominant (2;11)
0.880 2020-07-29
External Program
FACS B cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ T nonsense probably null
3 UTSW Ikzf1 0.000 Herrscher 11 11685003-11772926 bp (+) 11768961 Autosomal Dominant (20;151) 0.984 2020-06-04
External Program
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS macrophages - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - decreased
FACS NK1.1+ T cells - increased
FACS T cells - increased
C ⇒ T nonsense probably null
4 UTSW Pik3r1 0.000 anubis 13 101680563-101768217 bp (-) 101702776 Unknown (3;0)
Autosomal Recessive (9;54), Autosomal Semidominant (1;4)
0.989 2020-02-14
External Program
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
FACS CD4+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
IgE response to a Cysteine Protease (Papain) - increased
OVA-specific IgE - increased
A ⇒ T nonsense probably null
5 UTSW Lrba 0.000 oscar 3 86224680-86782692 bp (+) 86350304 Autosomal Recessive (2;15) 0.964 2020-02-04
External Program
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1b cells in B1 cells - increased
FACS B220 MFI - increased
FACS CD11c+ DCs - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
C ⇒ T nonsense probably null
6 UTSW Cd4 0.000 craw 6 124864692-124888221 bp (-) 124867746 Unknown (7;0) no linkage results 2019-11-12
Bruce Beutler
FACS CD4+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
G ⇒ A nonsense probably null
7 UTSW Klhl6 0.071 cerulean 16 19946496-19983037 bp (-) 19957218 Autosomal Recessive (8;130)
Autosomal Semidominant (6;41)
0.902 2019-10-25
Bruce Beutler
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
total IgE level - increased
G ⇒ A nonsense probably null
8 UTSW
has photo
Tshr 0.378 freckle 12 91384563-91549808 bp (+) 91538226 Unknown (1;0)
Autosomal Recessive (2;12)
0.637 2019-09-04
Bruce Beutler
125-03 Response - increased
Body Weight (Z-score) - decreased
endocrine/exocrine gland
growth/size
C ⇒ A nonsense probably null
9 UTSW
has video
Slc26a4 0.000 cul-de-sac 12 31519827-31559969 bp (-) 31525568 Autosomal Recessive (2;9) 0.666 2019-09-04
Emre Turer
behavior/neurological
DSS: sensitive day 10
hearing/vestibular/ear
A ⇒ T nonsense probably null
10 UTSW
has photohas video
Grm1 0.151 donald 10 10686059-11082356 bp (-) 10741508 Autosomal Recessive (1;2) failed initial filter 2019-09-04
Diantha La Vine
behavior/neurological
growth/size
life span-post-weaning/aging
skeleton phenotype
G ⇒ T nonsense probably null
11 UTSW
has photo
Lyst 0.317 charzard 13 13590397-13778803 bp (+) 13647083 Autosomal Recessive (1;1) failed initial filter 2019-09-04
Diantha La Vine
pigmentation
skin/coat/nails
T ⇒ A nonsense probably null
12 UTSW Entpd5 0.000 eatsy 12 84373857-84409029 bp (-) 84382295 Autosomal Recessive (10;46)
Autosomal Semidominant (2;9)
0.918 2019-09-04
External Program
125-03 Response - increased
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1 cells - increased
FACS CD44+ CD8 MFI - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
growth/size
TLR signaling defect: hypersensitivity to PAM3CSK4
G ⇒ A nonsense probably null
13 UTSW Lyn 0.000 Cress 4 3678115-3813122 bp (+) 3789908 Autosomal Dominant (6;31)
Autosomal Recessive (4;18), Autosomal Semidominant (14;82)
0.969 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS neutrophils - decreased
FACS T cells - increased
MCMV susceptibility
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B1b cells - increased
post-MCMV FACS B2 cells - decreased
post-MCMV FACS B220 MFI - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ A nonsense probably null
14 UTSW Rorc 0.798 macadamias 3 94372794-94398276 bp (+) 94397302 Autosomal Dominant (1;4)
Autosomal Recessive (1;8)
0.923 2019-09-04
Diantha La Vine
IgE response to a Cysteine Protease (Papain) - increased
T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ A nonsense probably null
15 UTSW Socs2 0.220 samson 10 95385362-95417180 bp (-) 95413081 Autosomal Recessive (3;15)
Autosomal Semidominant (1;5)
0.433 2019-09-04
Bruce Beutler
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (Male) - increased
growth/size
C ⇒ A nonsense probably null
16 UTSW Alms1 0.000 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (2;10)
Autosomal Semidominant (1;4)
0.981 2019-09-04
External Program
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
growth/size
C ⇒ T nonsense probably null
17 UTSW Tub 0.000 troy 7 108950338-109034460 bp (+) 109020954 Autosomal Recessive (6;31) 0.706 2019-09-04
Bruce Beutler
adipose tissue
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (DSS, z-score) - increased
Body Weight (Z-score) - increased
growth/size
C ⇒ T nonsense probably null
18 UTSW Mapk3 0.000 wabasha 7 126759601-126765819 bp (+) 126763512 Autosomal Recessive (2;10) 0.524 2019-09-04
Peter Jurek
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
A ⇒ T nonsense probably null
19 UTSW Grm7 0.000 shaky 6 110645581-111567230 bp (+) 111495791 Autosomal Recessive (1;2) failed initial filter 2019-09-04
Anne Murray
behavior/neurological
limbs/digits/tail phenotype
nervous system
A ⇒ T nonsense probably null
20 UTSW
has video
Grid2 0.000 crawler 6 63255876-64704323 bp (+) 64429694 Autosomal Recessive (2;5) 0.178 2019-09-04
Anne Murray
behavior/neurological
growth/size
MCMV susceptibility
nervous system
T ⇒ A nonsense probably null
21 UTSW Nedd9 0.000 hebei 13 41309581-41487362 bp (-) 41338979 Autosomal Recessive (5;29) 0.771 2019-09-04
External Program
FACS B1a cells in B1 cells - decreased
MCMV susceptibility
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
A ⇒ T nonsense probably null
22 UTSW Slx4 1.000 slim 16 3979105-4003770 bp (-) 3990910 Autosomal Recessive (4;22) 0.495 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (DSS) - decreased
growth/size
G ⇒ A nonsense probably null
23 UTSW Immp2l 0.000 imp 12 41024090-41955588 bp (+) 41110847 Autosomal Recessive (8;53) 0.692 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (DSS Male) - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
growth/size
T ⇒ A nonsense probably null
24 UTSW Tlr4 0.000 bugsy 4 66827584-66930284 bp (+) 66839254 Autosomal Recessive (3;27) 0.956 2019-09-04
Katherine Timer
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
A ⇒ T nonsense probably null
25 UTSW Ighe 0.049 Allegra 12 113271174-113273248 bp (-) 113271374 Autosomal Semidominant (2;9) 0.119 2019-09-04
Anne Murray
ratio of OVA-specific IgE over the total IgE - increased
total IgE level - decreased
G ⇒ A nonsense probably null
26 UTSW Itgax 0.076 Adendritic 7 128129547-128150657 bp (+) 128148572 Autosomal Recessive (1;7)
Autosomal Semidominant (2;20)
0.652 2019-09-04
Katherine Timer
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD11c+ DCs - decreased
FACS pDCs - increased
C ⇒ A nonsense probably null
27 UTSW Naip5 0.071 inwood2 13 100211739-100246323 bp (-) 100223014 Autosomal Recessive (1;6) 0.871 2019-09-04
Anne Murray
Nlrc4 inflammasome: low response
G ⇒ T nonsense probably null
28 UTSW Naip5 0.071 inwood3 13 100211739-100246323 bp (-) 100221903 Autosomal Recessive (2;9) 0.827 2019-09-04
Anne Murray
Nlrc4 inflammasome: low response
G ⇒ A nonsense probably null
29 UTSW Cr2 0.127 Pillar 1 195136811-195176716 bp (-) 195155888 Autosomal Semidominant (1;4) 0.085 2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ T nonsense probably null
30 UTSW Clock 0.749 uhr 5 76209868-76304792 bp (-) 76229554 Autosomal Recessive (1;2) failed initial filter 2019-09-04
Katherine Timer
Body Weight - increased
G ⇒ A nonsense probably null
31 UTSW Pappa2 0.000 Lilliputian2 1 158711727-158980490 bp (-) 158834918 Unknown (2;0)
Autosomal Dominant (2;8), Autosomal Semidominant (2;10)
0.957 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
growth/size
A ⇒ T nonsense probably null
32 UTSW Tg 0.152 ito 15 66670753-66850721 bp (+) 66766162 Unknown (1;0)
Autosomal Recessive (6;33)
0.891 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
OVA-specific IgE - increased
total IgE level - increased
C ⇒ T nonsense probably null
33 UTSW
has video
Slc26a4 0.000 discobolus 12 31519827-31559969 bp (-) 31540533 Autosomal Recessive (1;10) 0.330 2019-09-04
Katherine Timer
behavior/neurological
hearing/vestibular/ear
T ⇒ A nonsense probably null
34 UTSW Mdm4 1.000 Sun_island 1 132959484-133030561 bp (-) 133012651 Autosomal Dominant (4;37) 0.989 2019-09-04
Diantha La Vine
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
A ⇒ T missense probably damaging 1.000
35 UTSW Gamt 0.451 mr_bigger 10 80258151-80261012 bp (-) 80260724 Autosomal Recessive (4;30) 0.751 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
T ⇒ A nonsense probably null
36 UTSW Nlrp3 0.090 Park7 11 59541568-59566956 bp (+) 59548010 Autosomal Semidominant (2;12) 0.897 2019-09-04
Diantha La Vine
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
OVA-specific IgE - increased
C ⇒ T nonsense probably null
37 UTSW Bcl3 0.000 sunrise 7 19808462-19822770 bp (-) 19811580 Autosomal Dominant (1;5)
Autosomal Recessive (7;47), Autosomal Semidominant (3;15)
0.766 2019-09-04
Diantha La Vine
FACS B1 cells - increased
FACS B1b cells in B1 cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS macrophages - increased
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to rSFV
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
G ⇒ T nonsense probably null
38 UTSW Pnp 0.108 Porch 14 50931082-50965237 bp (+) 50950923 Autosomal Recessive (1;5)
Autosomal Semidominant (1;5)
0.662 2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
C ⇒ T nonsense probably null
39 UTSW Ly96 0.103 pique 1 16688051-16709611 bp (+) 16691716 Autosomal Recessive (4;25) 0.727 2019-09-04
Anne Murray
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
G ⇒ T nonsense probably null
40 UTSW
has photo
Adamts20 0.169 poliwag 15 94270163-94465418 bp (-) 94394622 Unknown no linkage result 2019-09-04
Diantha La Vine
A ⇒ T nonsense probably null
41 UTSW Impdh1 0.242 steve 6 29200434-29216364 bp (-) 29204632 Autosomal Recessive (3;25)
Autosomal Semidominant (1;4)
0.425 2019-09-04
Anne Murray
TLR signaling defect: hyposensitivity to CpG + IFNg
vision/eye
G ⇒ A nonsense probably null
42 UTSW
has photo
Hps5 0.106 smoky 7 46760466-46796064 bp (-) 46769351 Autosomal Recessive (1;2) failed initial filter 2019-09-04
Diantha La Vine
pigmentation
skin/coat/nails
G ⇒ A nonsense probably null
43 UTSW Tap2 0.145 date2 17 34203527-34216321 bp (+) 34214032 Autosomal Recessive (15;238) 0.947 2019-09-04
Diantha La Vine
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B1a cells in B1 cells - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
NK cell response - decreased
NK killing - decreased
C ⇒ A nonsense probably null
44 UTSW Alms1 0.000 ares2 6 85587531-85702753 bp (+) 85677990 Autosomal Recessive (9;66)
Autosomal Semidominant (2;9)
0.625 2019-09-04
Diantha La Vine
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
resistance to B10-F16 melanoma - decreased
C ⇒ T nonsense probably null
45 UTSW Elmo1 0.000 sesame 13 20090596-20608353 bp (+) 20600212 Autosomal Dominant (3;7)
Autosomal Recessive (4;16)
0.976 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B1 cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
C ⇒ G nonsense probably null
46 UTSW Ctss 0.218 clip 3 95526786-95556403 bp (+) 95545384 Autosomal Recessive (2;11) 0.283 2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: TNF production by macrophages
C ⇒ T nonsense probably null
47 UTSW Ebf1 0.916 Crater_lake 11 44617317-45008091 bp (+) 44972908 Autosomal Dominant (8;57) 0.949 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
A ⇒ T nonsense probably null
48 UTSW
has photo
Oca2 0.317 narwhal 7 56239760-56536518 bp (+) 56295498 Unknown no linkage result 2019-09-04
Diantha La Vine
A ⇒ T nonsense probably null
49 UTSW Lyst 0.317 robin 13 13590397-13778803 bp (+) 13648802 Autosomal Recessive (1;5) 0.459 2019-09-04
Diantha La Vine
pigmentation
skin/coat/nails
T ⇒ A nonsense probably null
50 UTSW Stat1 0.000 rollo 1 52119440-52161865 bp (+) 52153923 Autosomal Recessive (4;26) 0.804 2019-09-04
Diantha La Vine
NK cell response - decreased
NK killing - decreased
C ⇒ A nonsense probably null
51 UTSW Lrba 0.000 oscar2 3 86224680-86782692 bp (+) 86664458 Autosomal Recessive (2;12)
Autosomal Semidominant (1;4)
0.968 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
T ⇒ A nonsense probably null
52 UTSW
has photo
Alms1 0.000 fatty 6 85587531-85702753 bp (+) 85627934 Autosomal Dominant (1;1)
Autosomal Recessive (18;137), Autosomal Semidominant (3;10)
0.989 2019-09-04
Diantha La Vine
30 min GTT hyperglycemic
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
growth/size
NK cell response - decreased
NK killing - decreased
C ⇒ T nonsense probably null
53 UTSW Hcn1 0.000 Thump 13 117602320-117987418 bp (+) 117873905 Autosomal Recessive (1;8)
Autosomal Semidominant (2;16)
no linkage result 2019-09-04
Anne Murray
A ⇒ T nonsense probably null
54 UTSW Irs1 0.549 runt2 1 82233101-82291416 bp (-) 82286967 Autosomal Recessive (9;51) 0.925 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (DSS Male) - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
A ⇒ T nonsense probably null
55 UTSW Clcnka 0.000 free_trade 4 141384610-141398724 bp (-) 141395158 Autosomal Recessive (4;29) 0.840 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
A ⇒ T nonsense probably null
56 UTSW Pnp 0.108 porch2 14 50931082-50965237 bp (+) 50951506 Autosomal Recessive (18;127) 0.511 2019-09-04
Anne Murray
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - increased
FACS B2 cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ A nonsense probably null
57 UTSW Smcr8 0.000 patriot3 11 60777524-60788287 bp (+) 60779870 Autosomal Recessive (5;24) 0.957 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B220 MFI - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
TLR signaling defect: hypersensitivity to CpG + IFNg
C ⇒ T nonsense probably null
58 UTSW Themis 0.129 cloudies 10 28668360-28883818 bp (+) 28761199 Autosomal Recessive (19;252) 0.941 2019-09-04
Diantha La Vine
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B:T cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
G ⇒ T nonsense probably null
59 UTSW Diaph1 0.000 damselfly 18 37843601-37935476 bp (-) 37897550 Autosomal Recessive (16;171) 0.990 2019-09-04
Anne Murray
FACS B:T cells - increased
FACS B1a cells in B1 cells - decreased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
IgA response to 2nd OVA/Alum Challenge (day 7) - increased
MCMV susceptibility
C ⇒ A nonsense probably null
60 UTSW Dnajc3 0.497 vanishing 14 118937976-118981697 bp (+) 118972387 Autosomal Recessive (7;32) 0.857 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
DSS: sensitive day 10
FACS CD44+ CD8 T cells - increased
FACS T cells - increased
T ⇒ A nonsense probably null
61 UTSW Vav1 0.258 tardive 17 57279100-57328031 bp (+) 57303079 Autosomal Recessive (18;210)
Autosomal Semidominant (2;23)
0.988 2019-09-04
Diantha La Vine
FACS B:T cells - increased
FACS B1 cells - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS IgD MFI - decreased
FACS IgM MFI - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
total IgE level - decreased
A ⇒ T nonsense probably null
62 UTSW Ppp3cb 0.000 eden_express 14 20499364-20546573 bp (-) 20528195 Autosomal Dominant (1;6)
Autosomal Recessive (4;39), Autosomal Semidominant (4;18)
0.954 2019-09-04
Diantha La Vine
FACS B:T cells - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS macrophages - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - increased
FACS T cells - decreased
IgG1 response to a Cysteine Protease (Papain) - decreased
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
total IgE level - increased
G ⇒ T nonsense probably null
63 UTSW Stk4 0.000 stryker 2 164070322-164155524 bp (+) 164083688 Autosomal Recessive (25;234)
Autosomal Semidominant (2;12)
0.990 2019-09-04
Diantha La Vine
FACS B cells - increased
FACS B:T cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS B220 MFI - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgM+ B cells - increased
FACS macrophages - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - increased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
A ⇒ T nonsense probably null
64 UTSW Rasgrp1 0.229 grouper 2 117279993-117343001 bp (-) 117302004 Autosomal Recessive (17;95)
Autosomal Semidominant (2;8)
0.981 2019-09-04
Diantha La Vine
FACS B:T cells - increased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
IgA response to 2nd OVA/Alum Challenge (day 7) - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - increased
T ⇒ A nonsense probably null
65 UTSW Tap1 0.000 joplin 17 34187553-34197225 bp (+) 34193258 Autosomal Recessive (4;24) 0.923 2019-09-04
Anne Murray
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
T ⇒ A missense probably damaging 1.000
66 UTSW Nfkb1 0.000 kookaburra 3 135584655-135691547 bp (-) 135626611 Autosomal Dominant (1;7)
Autosomal Recessive (4;54), Autosomal Semidominant (6;33)
0.978 2019-09-04
Diantha La Vine
FACS B1 cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE after 2nd OVA/Alum - decreased
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
T ⇒ A nonsense probably null
67 UTSW Atm 0.884 mockingbird 9 53439149-53536740 bp (-) 53516467 Autosomal Recessive (9;63) 0.930 2019-09-04
Diantha La Vine
FACS B:T cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
C ⇒ A nonsense probably null
68 UTSW Dsg2 0.199 weg 18 20558074-20604521 bp (+) 20580651 Autosomal Recessive (7;48) 0.632 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
FACS CD4+ T cells - decreased
FACS T cells - decreased
T ⇒ A nonsense probably null
69 UTSW
has photo
Adamts20 0.169 wash 15 94270163-94465418 bp (-) 94347670 Autosomal Recessive (1;7) 0.383 2019-09-04
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ A nonsense probably null
70 UTSW
has photo
Slc45a2 0.107 goku 15 11000721-11029233 bp (+) 11000855 Autosomal Recessive (1;16) failed initial filter 2019-09-04
Anne Murray
pigmentation
skin/coat/nails
T ⇒ A nonsense probably null
71 UTSW
has photo
Gk5 0.000 homer 9 96119362-96184608 bp (+) 96140656 Autosomal Recessive (11;70) 0.975 2019-09-04
Anne Murray
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
skin/coat/nails
C ⇒ T nonsense probably null
72 UTSW
has video
Epg5 0.918 stitch 18 77938467-78035027 bp (+) 77948299 Autosomal Recessive (3;18) 0.464 2019-09-04
Anne Murray
FACS CD44+ CD4 MFI - decreased
T ⇒ A nonsense probably null
73 UTSW Prkdc 0.953 liming 16 15637866-15842235 bp (+) 15752829 Autosomal Recessive (27;377) 0.896 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
FACS B cells - decreased
FACS B:T cells - increased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - decreased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
FACS NK1.1+ T cells - decreased
FACS T cells - decreased
C ⇒ A nonsense probably null
74 UTSW Elmo1 0.000 Edinburg 13 20090596-20608353 bp (+) 20290383 Autosomal Recessive (4;26)
Autosomal Semidominant (4;27)
0.976 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ T nonsense probably null
75 UTSW Bcl3 0.000 sunrise2 7 19808462-19822770 bp (-) 19809634 Autosomal Recessive (6;40) 0.927 2019-09-04
Diantha La Vine
FACS B1 cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS IgD MFI - decreased
FACS IgM MFI - increased
A ⇒ T nonsense probably null
76 UTSW
has photo
Gk5 0.000 sean 9 96119362-96184608 bp (+) 96176237 Autosomal Recessive (9;82)
Autosomal Semidominant (2;8)
0.978 2019-09-04
Anne Murray
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
skin/coat/nails
C ⇒ T nonsense probably null
77 UTSW Ikzf1 0.000 waxwing 11 11685003-11772926 bp (+) 11748464 Autosomal Dominant (1;4)
Autosomal Recessive (11;124), Autosomal Semidominant (6;65)
0.974 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS macrophages - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - decreased
FACS NK1.1+ T cells - increased
FACS T cells - increased
C ⇒ A nonsense probably null
78 UTSW
has photo
Lyst 0.317 charcoal 13 13590397-13778803 bp (+) 13696761 Autosomal Recessive (1;3) failed initial filter 2019-09-04
Anne Murray
pigmentation
skin/coat/nails
T ⇒ A nonsense probably null
79 UTSW Alms1 0.000 earthquake 6 85587531-85702753 bp (+) 85628735 Autosomal Recessive (33;231) 0.978 2019-09-04
Diantha La Vine
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
FACS CD8+ T cells in CD3+ T cells - increased
A ⇒ T nonsense probably null
80 UTSW Mc4r 0.097 Cetacean 18 66857715-66860472 bp (-) 66859180 Autosomal Recessive (1;4)
Autosomal Semidominant (10;57)
0.860 2019-09-04
Diantha La Vine
Body Weight - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
A ⇒ T nonsense probably null
81 UTSW Tcf12 1.000 Poorly 9 71842688-72111871 bp (-) 71944016 Autosomal Dominant (7;35) 0.966 2019-09-04
Diantha La Vine
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ A nonsense probably null
82 UTSW Rasgrp1 0.229 venutian 2 117279993-117343001 bp (-) 117284929 Autosomal Recessive (18;323)
Autosomal Semidominant (1;11)
0.983 2019-09-04
Diantha La Vine
FACS B:T cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
FACS T cells - decreased
C ⇒ T nonsense probably null
83 UTSW Ptprc 0.000 jirisan 1 138062861-138175708 bp (-) 138113678 Autosomal Dominant (1;14)
Autosomal Recessive (18;122), Autosomal Semidominant (2;12)
0.971 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
C ⇒ A nonsense probably null
84 UTSW Nckap1l 0.880 hem-haw 15 103453794-103498810 bp (+) 103471232 Autosomal Recessive (35;336) 0.986 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - decreased
FACS T cells - decreased
C ⇒ A nonsense probably null
85 UTSW Hcn2 0.000 curveball2 10 79716634-79736108 bp (+) 79733773 Autosomal Recessive (17;111) 0.970 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS T cells - increased
G ⇒ T nonsense probably null
86 UTSW Rel 0.000 Amun-ra 11 23736847-23770970 bp (-) 23757026 Unknown (2;0)
Autosomal Dominant (1;10), Autosomal Recessive (2;24), Autosomal Semidominant (7;51)
0.966 2019-09-04
Bruce Beutler
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS T cells - increased
IgE response to a Cysteine Protease (Papain) - decreased
IgG1 response to a Cysteine Protease (Papain) - decreased
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
C ⇒ A nonsense probably null
87 UTSW Dsg2 0.199 Dysjunction 18 20558074-20604521 bp (+) 20582939 Autosomal Dominant (1;4) 0.352 2019-09-04
Anne Murray
DSS: sensitive day 7
T ⇒ A nonsense probably null
88 UTSW Trp53bp1 0.000 split_pea 2 121193281-121271407 bp (-) 121228606 Autosomal Recessive (1;5) 0.971 2019-09-04
Diantha La Vine
FACS IgD MFI - decreased
T ⇒ A nonsense probably null
89 UTSW Gh 0.246 atto 11 106300271-106301865 bp (-) 106301404 Autosomal Recessive (31;172)
Autosomal Semidominant (1;4)
0.692 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
T ⇒ A nonsense probably null
90 UTSW Alms1 0.000 gut_check 6 85587531-85702753 bp (+) 85620369 Autosomal Recessive (3;13) failed initial filter 2019-09-04
Anne Murray
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
A ⇒ T nonsense probably null
91 UTSW
has photo
Kbtbd2 0.000 teeny 6 56777524-56797813 bp (-) 56780389 Unknown (1;0)
Autosomal Recessive (6;45), Autosomal Semidominant (1;7)
0.979 2019-08-15
External Program
30 min GTT hyperglycemic
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
FACS B1a cells - decreased
FACS CD44+ CD8 T cells - increased
growth/size
liver/biliary system
G ⇒ A nonsense probably null
92 UTSW Cd22 0.000 well 7 30865402-30880342 bp (-) 30877787 Unknown no linkage results 2019-07-29
Diantha La Vine
FACS B cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ A nonsense probably null
93 UTSW Prkdc 0.953 screamer 16 15637866-15842235 bp (+) 15831282 Autosomal Recessive (24;276) 0.902 2019-07-17
Diantha La Vine
Body Weight - decreased
Body Weight (Z-score) - decreased
FACS B cells - decreased
FACS B1 cells - increased
FACS B1a cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ T nonsense probably null
94 UTSW
has photo
Hps5 0.106 dorian_gray 7 46760466-46796064 bp (-) 46784145 Unknown no linkage results 2019-06-25
Diantha La Vine
pigmentation
skin/coat/nails
T ⇒ A unclassified probably benign
95 UTSW Ptprc 0.000 belittle 1 138062861-138175708 bp (-) 138137493 Unknown no linkage results 2019-06-06
Diantha La Vine
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
immune system
T ⇒ A intron probably benign
96 UTSW Ptprc 0.000 guotie 1 138062861-138175708 bp (-) 138068401 Unknown (1;0)
Autosomal Recessive (53;509), Autosomal Semidominant (9;57)
0.970 2019-06-06
Diantha La Vine
30 min GTT hypoglycemic
30 min GTT hypoglycemic (male)
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK1.1+ T cells - decreased
FACS T cells - decreased
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B1 cells - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
post-MCMV FACS B220 MFI - decreased
post-MCMV FACS CD11b+ DCs (gated in CD11c+ cells) - increased
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD44+ T MFI - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - decreased
post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS IgD MFI - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM MFI - increased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS macrophages - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
post-MCMV FACS neutrophils - increased
post-MCMV FACS NK T cells - decreased
post-MCMV FACS pDCs - decreased
post-MCMV FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - decreased
G ⇒ A nonsense probably null
97 UTSW Msh6 1.000 medea 17 87975050-87990883 bp (+) 87980223 Autosomal Recessive (1;20) 0.629 2019-05-22
Diantha La Vine
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
total IgE level - decreased
G ⇒ A nonsense probably null
98 UTSW Dock2 0.000 dew 11 34226815-34783892 bp (-) 34248636 Unknown (1;0) no linkage results 2019-05-21
Diantha La Vine
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
G ⇒ A nonsense probably null
99 UTSW Lmbr1l 0.000 strawberry 15 98903917-98918231 bp (-) 98909263 Autosomal Dominant (1;4)
Autosomal Recessive (24;220)
0.990 2019-05-14
Anne Murray
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B cells - increased
FACS B:T cells - increased
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B220 MFI - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - decreased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - increased
FACS IgM MFI - increased
FACS IgM+ B cells - increased
FACS macrophages - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - decreased
FACS NK1.1+ T cells - decreased
FACS T cells - decreased
MCMV susceptibility
NK cell response - decreased
NK killing - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE after 2nd OVA/Alum - decreased
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
G ⇒ T nonsense probably null
100 UTSW
has photo
Slc45a2 0.107 cardigan 15 11000721-11029233 bp (+) 11022172 Unknown no linkage results 2019-04-23
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ A synonymous probably benign
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