Phenotypic Mutations

66 mutations affecting 58 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 66 of 66] per page Full List
 




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Verification Probability

Phenotypic Category

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1 UTSW Pi4ka 1.000 Pia 16 17280351-17406314 bp (-) 17281044 Autosomal Recessive (3;18)
Autosomal Semidominant (3;12)
0.424 2020-07-29
External Program
FACS CD44+ CD4 T cells - increased
FACS CD44+ T cells - increased
FACS central 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
MTT Value of PECs - decreased
C ⇒ T missense probably damaging 0.997
2 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
3 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
4 UTSW Prkce 0.000 Pinnacles 17 86167785-86657919 bp (+) 86476851 Autosomal Semidominant (1;5) 0.034 2019-10-23
Anne Murray
FACS NK cells - decreased
C ⇒ T missense probably damaging 0.997
5 UTSW Zbtb1 0.742 Old_friend 12 76370266-76396950 bp (+) 76385891 Autosomal Recessive (1;6)
Autosomal Semidominant (2;10)
0.070 2019-10-23
Anne Murray
FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS NK1.1+ T cells - increased
C ⇒ T missense probably damaging 0.965
6 UTSW Jak3 0.721 citron 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive (2;10)
Autosomal Semidominant (1;5)
0.727 2019-09-04
Diantha La Vine
cellular phenotype
FACS B:T cells - increased
FACS B1b cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
C ⇒ T splice site 4 bp probably benign
7 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
8 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
9 UTSW Lck 0.000 lockdown 4 129548344-129573641 bp (-) 129558127 Autosomal Recessive (13;68)
Autosomal Semidominant (2;8)
0.955 2019-09-04
Katherine Timer
DSS: resistant day 10
DSS: sensitive day 7
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+ CD8 MFI - increased
FACS CD44+ T MFI - 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
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD4+ T cells in CD3+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
post-MCMV FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
C ⇒ T missense probably damaging 1.000
10 UTSW Nos3 0.000 paul 5 24364810-24384474 bp (+) 24372704 Autosomal Recessive (2;8) 0.210 2019-09-04
Diantha La Vine
DSS: sensitive day 7
T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
C ⇒ T missense probably damaging 1.000
11 UTSW Adamts20 0.164 buckeye 15 94270163-94465418 bp (-) 94341087 Unknown (1;0) failed initial filter 2019-09-04
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ T missense probably damaging 0.999
12 UTSW Rims4 0.146 diminutive 2 163859751-163918683 bp (-) 163864865 Autosomal Dominant (2;8)
Autosomal Recessive (3;20)
0.853 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
growth/size
impaired response to dsDNA- type I IFN production by macrophages
C ⇒ T critical splice donor site probably null
13 UTSW Cd22 0.000 gansu 7 30865402-30880342 bp (-) 30870105 Autosomal Recessive (7;42) 0.910 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 B2 cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
C ⇒ T missense probably damaging 1.000
14 UTSW
has photo
Adamts20 0.164 nidoking 15 94270163-94465418 bp (-) 94403445 Autosomal Recessive (1;12) 0.487 2019-09-04
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ T missense probably damaging 0.999
15 UTSW Tg 0.131 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
16 UTSW Yap1 1.000 Puddel_hunde 9 7931999-8004596 bp (-) 8004284 Autosomal Semidominant (2;10) 0.420 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
C ⇒ T missense probably damaging 1.000
17 UTSW Nlrp3 0.101 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
18 UTSW Col6a2 0.000 piddling 10 76595762-76623630 bp (-) 76608106 Autosomal Recessive (3;19) 0.605 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
growth/size
C ⇒ T critical splice donor site probably null
19 UTSW
has video
Pcdh15 0.000 sphere 10 73099342-74649737 bp (+) 74624284 Autosomal Recessive (1;2) failed initial filter 2019-09-04
Diantha La Vine
behavior/neurological
hearing/vestibular/ear
C ⇒ T missense probably damaging 1.000
20 UTSW Sppl2a 0.081 abra2 2 126890391-126933235 bp (-) 126920313 Autosomal Recessive (5;44)
Autosomal Semidominant (1;4)
0.958 2019-09-04
Anne Murray
FACS central memory CD8 T cells in CD8 T cells - 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 After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
C ⇒ T splice site probably null
21 UTSW Pnp 0.100 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
22 UTSW
has video
Mpz 0.088 taz 1 171150711-171161130 bp (+) 171158810 Unknown no linkage result 2019-09-04
Anne Murray
C ⇒ T missense probably damaging 1.000
23 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
24 UTSW Ctss 0.178 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
25 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
26 UTSW Ryr2 1.000 Arruda 13 11553102-12106945 bp (-) 11643895 Unknown no linkage result 2019-09-04
Anne Murray
C ⇒ T missense probably damaging 0.999
27 UTSW Pik3r1 0.000 Rocket 13 101680563-101768217 bp (-) 101689444 Autosomal Dominant (3;19) 0.672 2019-09-04
Diantha La Vine
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
C ⇒ T missense probably damaging 1.000
28 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
29 UTSW Trpc1 0.151 luxus 9 95705082-95750375 bp (-) 95721132 Autosomal Recessive (5;18)
Autosomal Semidominant (1;4)
0.345 2019-09-04
Diantha La Vine
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (Male) - increased
FACS B cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
C ⇒ T critical splice donor site probably null
30 UTSW Tbx21 0.287 plateau 11 97098071-97115331 bp (-) 97101478 Autosomal Dominant (1;6)
Autosomal Recessive (1;6)
0.273 2019-09-04
Anne Murray
FACS CD8+ T cells in CD3+ T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
C ⇒ T critical splice donor site probably null
31 UTSW Tnfrsf13c 0.195 Tannin 15 82221743-82224369 bp (-) 82224207 Autosomal Dominant (2;8) 0.443 2019-09-04
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
C ⇒ T missense probably damaging 0.997
32 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
33 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
34 UTSW Ptprc 0.000 fuchsia 1 138062861-138175708 bp (-) 138101041 Autosomal Recessive (17;235)
Autosomal Semidominant (1;17)
0.974 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+ 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 naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
C ⇒ T critical splice donor site probably null
35 UTSW Ptpn6 0.555 Vermeil 6 124720707-124738714 bp (-) 124732950 Autosomal Recessive (3;15)
Autosomal Semidominant (6;34)
0.645 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B1 cells - increased
FACS CD44+ CD8 MFI - increased
FACS central 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 naive CD8 T cells in CD8 T cells - decreased
C ⇒ T missense probably benign 0.103
36 UTSW Rasgrp1 0.249 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
37 UTSW Nfkb1 0.000 Murgatroyd 3 135584655-135691547 bp (-) 135626710 Autosomal Dominant (1;11) 0.885 2019-09-04
Diantha La Vine
FACS B1 cells - decreased
C ⇒ T missense possibly damaging 0.720
38 UTSW Atp2b2 0.907 johan 6 113743831-114042613 bp (-) 113773388 Autosomal Recessive (1;4) 0.376 2019-09-04
Anne Murray
Body Weight - decreased
C ⇒ T missense probably damaging 1.000
39 UTSW Klhl6 0.094 heights 16 19946496-19983037 bp (-) 19957028 Autosomal Recessive (3;13)
Autosomal Semidominant (1;5)
0.718 2019-09-04
Diantha La Vine
FACS CD4+ T cells - increased
FACS IgD MFI - increased
FACS IgD+ B cell percentage - decreased
FACS T cells - increased
C ⇒ T missense probably damaging 0.978
40 UTSW Lyn 0.000 water 4 3678115-3813122 bp (+) 3748787 Autosomal Dominant (1;4)
Autosomal Recessive (1;5)
0.844 2019-09-04
Anne Murray
FACS B cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
C ⇒ T missense possibly damaging 0.930
41 UTSW Nfkb1 0.000 Frisbee 3 135584655-135691547 bp (-) 135613943 Autosomal Recessive (1;5)
Autosomal Semidominant (3;13)
0.825 2019-09-04
Anne Murray
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
total IgE level - decreased
C ⇒ T missense possibly damaging 0.934
42 UTSW Tcf12 1.000 Substandard 9 71842688-72111871 bp (-) 71858840 Autosomal Dominant (5;24) 0.840 2019-09-04
Anne Murray
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
C ⇒ T missense probably null 0.539
43 UTSW Cd79b 0.064 Jeju 11 106311341-106314762 bp (-) 106312713 Autosomal Semidominant (5;36) 0.913 2019-09-04
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS T cells - increased
C ⇒ T missense probably damaging 1.000
44 UTSW Dock2 0.000 Launch 11 34226815-34783892 bp (-) 34256562 Autosomal Dominant (1;4)
Autosomal Semidominant (1;5)
0.508 2019-09-04
Diantha La Vine
FACS B:T cells - decreased
FACS CD8+ T cells - increased
C ⇒ T missense probably damaging 1.000
45 UTSW Prkcb 0.000 Tikrit 7 122288751-122634402 bp (+) 122627693 Autosomal Dominant (1;4) 0.916 2019-09-04
Anne Murray
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
C ⇒ T missense probably damaging 0.997
46 UTSW Ptprc 0.000 Gentian 1 138062861-138175708 bp (-) 138067885 Autosomal Dominant (4;31)
Autosomal Semidominant (2;8)
0.926 2019-09-04
Diantha La Vine
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD44+ CD8 MFI - increased
FACS naive CD8 T cells in CD8 T cells - decreased
C ⇒ T critical splice donor site 1 bp probably null
47 UTSW Itgam 0.116 obscured 7 128062640-128118491 bp (+) 128081634 Autosomal Recessive (1;4) 0.720 2019-02-01
Anne Murray
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
C ⇒ T missense probably damaging 1.000
48 UTSW Nlrp3 0.101 Park2 11 59541568-59566956 bp (+) 59565128 Autosomal Dominant (1;4)
Autosomal Semidominant (1;5)
0.899 2019-01-29
Diantha La Vine
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
C ⇒ T nonsense probably null
49 UTSW Wdr41 0.000 metallica 13 94976344-95023314 bp (+) 95015174 Unknown no linkage results 2019-01-09
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells - increased
FACS B220 MFI - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - 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 NK1.1+ T cells - increased
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to poly I:C
TLR signaling defect: hypersensitivity to R848
C ⇒ T nonsense probably null
50 UTSW Irf8 0.000 gemini 8 120736358-120756694 bp (+) 120743883 Unknown (2;0) no linkage results 2018-11-29
Diantha La Vine
cellular phenotype
FACS CD8+ T cells - decreased
immune system
MCMV susceptibility
response to injected CpG DNA - decreased
C ⇒ T nonsense probably null
51 UTSW Ifnar1 0.000 shook 16 91485238-91507441 bp (+) 91499537 Unknown (2;0)
Autosomal Recessive (1;5)
0.464 2018-11-06
Diantha La Vine
dsDNA induced type I IFN production - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - increased
impaired response to dsDNA- type I IFN production by macrophages
C ⇒ T nonsense probably null
52 UTSW Klf5 1.000 Bernie 14 99298691-99315036 bp (+) 99302230 Autosomal Semidominant (2;13) 0.738 2018-08-08
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
C ⇒ T missense probably damaging 1.000
53 UTSW Slc45a2 0.084 galak 15 11000721-11029233 bp (+) 11012667 Unknown no linkage results 2018-08-01
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ T missense probably benign 0.000
54 UTSW
has photo
Ednrb 0.803 gus-gus 14 103814625-103844402 bp (-) 103820013 Autosomal Recessive (1;2) failed initial filter 2018-05-29
Anne Murray
lethality-postnatal
pigmentation
skin/coat/nails
C ⇒ T missense probably damaging 0.999
55 UTSW Myo5a 0.961 silver_decerebrate_2 9 75071015-75223688 bp (+) 75211127 Unknown no linkage results 2018-05-22
Anne Murray
behavior/neurological
lethality-postnatal
life span-post-weaning/aging
pigmentation
skin/coat/nails
C ⇒ T missense probably damaging 1.000
56 UTSW
has photo
Oca2 0.223 snowflake 7 56239760-56536518 bp (+) 56324680 Unknown no linkage results 2018-01-12
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ T missense probably damaging 0.999
57 UTSW
has photo
Fgf5 0.155 splinter 5 98254184-98277030 bp (+) 98261987 Autosomal Recessive (1;4) 0.490 2016-12-08
Anne Murray
skin/coat/nails
C ⇒ T nonsense probably null
58 UTSW Myo5a 0.961 naoki 9 75071015-75223688 bp (+) 75161492 Autosomal Recessive (1;2) failed initial filter 2016-12-08
Anne Murray
behavior/neurological
pigmentation
skin/coat/nails
C ⇒ T missense probably damaging 1.000
59 UTSW
has photo
Tyrp1 0.238 ca-los 4 80834123-80851719 bp (+) 80844868 Unknown (2;0)
Autosomal Recessive (1;1)
failed initial filter 2016-12-07
Anne Murray
MCMV resistance
pigmentation
skin/coat/nails
C ⇒ T nonsense probably null
60 UTSW Vldlr 0.253 r26 19 27216484-27254231 bp (+) 27245654 Unknown no linkage results 2016-09-20
Katherine Timer
vision/eye
C ⇒ T missense probably damaging 0.989
61 UTSW
has photo
Pax3 0.751 Widget 1 78101267-78197134 bp (-) 78122590 Unknown (1;0) no linkage results 2016-05-13
Peter Jurek
pigmentation
skin/coat/nails
C ⇒ T critical splice donor site 1 bp probably null
62 UTSW Flt3 0.000 warmflash 5 147330741-147400489 bp (-) 147366918 Unknown (1;0) no linkage results 2016-05-13
Anne Murray
FACS CD4:CD8 - increased
growth/size
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
C ⇒ T critical splice donor site 1 bp probably null
63 UTSW
has photo
Atp7a 0.693 Tigrou-like X 106027276-106124926 bp (+) 106105250 Unknown no linkage results 2016-05-13
Anne Murray
lethality-embryonic/perinatal
pigmentation
skin/coat/nails
C ⇒ T missense probably damaging 1.000
64 UTSW
has photo
Tmprss6 0.070 masquerade 15 78439667-78468634 bp (-) 78468000 Unknown no linkage results 2016-05-13
Peter Jurek
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
C ⇒ T intron probably benign
65 UTSW Col4a4 0.080 aoba 1 82448423-82586849 bp (-) 82535740 Unknown (1;0) no linkage results 2016-05-13
Stephen Lyon
digestive/alimentary
hearing/vestibular/ear
renal/urinary system
C ⇒ T critical splice donor site 1 bp probably benign
66 APN Atp11c 0.407 ambrosius X 60223290-60592698 bp (-) 36608577 Unknown no linkage results 2016-05-13
Stephen Lyon
anemia
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
C ⇒ T unclassified 1 bp probably benign
[records 1 to 66 of 66]