Phenotypic Mutations

133 mutations affecting 108 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 134] per page Full List
 



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Verification Probability

Phenotypic Category

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1 UTSW Apbb2 0.000 bund 5 66298703-66618784 bp (-) 66400255 Autosomal Recessive (1;3) failed initial filter 2021-11-30
Diantha La Vine
30 min GTT hyperglycemic
30 min GTT hyperglycemic (male)
T ⇒ A missense probably damaging 0.996
2 UTSW Adgre1 0.205 Onion 17 57358686-57483529 bp (+) 57402841 Unknown no linkage results 2021-11-01
Diantha La Vine
FACS macrophages - decreased
T ⇒ A nonsense probably null
3 UTSW Ctsl 1.000 patch 13 64359337-64370890 bp (-) 64366623 Autosomal Recessive (13;265)
Autosomal Semidominant (1;5)
0.975 2021-09-24
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
4 UTSW Bcl3 0.000 Memorial 7 19808462-19822770 bp (-) 19812484 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
0.359 2020-07-29
External Program
FACS central memory CD8 T cells in CD8 T cells - increased
T ⇒ A missense probably damaging 1.000
5 UTSW Pax5 1.000 Glacier 4 44524757-44710487 bp (-) 44679494 Autosomal Recessive (3;25)
Autosomal Semidominant (1;7)
0.903 2020-07-29
External Program
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
T ⇒ A missense probably damaging 0.996
6 UTSW Tmprss6 0.079 Ekans 15 78439667-78468634 bp (-) 78459427 Autosomal Recessive (1;10)
Autosomal Semidominant (1;4)
0.349 2020-07-29
External Program
FACS T cells - decreased
skin/coat/nails
T ⇒ A splice site probably null
7 UTSW Tlr4 0.000 Cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive (3;31)
Autosomal Semidominant (3;16)
0.943 2020-07-29
External Program
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
T ⇒ A missense probably damaging 1.000
8 UTSW Inpp5d 0.906 styx 1 87620312-87720507 bp (+) 87669784 Unknown (1;0) no linkage results 2020-06-05
Thomas Gallagher
CTL killing - decreased
growth/size
hematopoietic system
homeostasis/metabolism
immune system
life span-post-weaning/aging
respiratory system
T ⇒ A critical splice donor site 2 bp probably benign
9 UTSW Inpp5d 0.906 pantone 1 87620312-87720507 bp (+) 87699675 Autosomal Recessive (70;565)
Autosomal Semidominant (4;27)
0.952 2020-05-29
Thomas Gallagher
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
Bone: Femur Length (AI, residual) - decreased
Bone: Femur Length (AI, residual, female) - decreased
Bone: Femur Length (AI, residual, male) - decreased
Bone: Fore Hip Distance (AI) - decreased
Bone: Fore Hip Distance (AI, female) - decreased
Bone: Fore Hip Distance (AI, male) - decreased
Bone: Hind Hip Distance (AI) - decreased
Bone: Hind Hip Distance (AI, female) - decreased
Bone: Hind Hip Distance (AI, male) - decreased
Bone: Pelvis Length (AI, residual) - decreased
Bone: Pelvis Length (AI, residual, female) - decreased
Bone: Pelvis Length (AI, residual, male) - decreased
Bone: Tibia Length (AI, residual) - decreased
Bone: Tibia Length (AI, residual, female) - decreased
Bone: Tibia Length (AI, residual, male) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - 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 - decreased
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 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 NK1.1+ T cells - decreased
FACS T cells - decreased
T ⇒ A missense probably damaging 0.999
10 UTSW Wdr41 0.000 gogi 13 94976344-95023314 bp (+) 95015217 Autosomal Recessive (12;77)
Autosomal Semidominant (3;16)
0.960 2020-05-12
External Program
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
T ⇒ A critical splice donor site probably null
11 UTSW Il2rb 0.102 Whistles 15 78479256-78495271 bp (-) 78481936 Autosomal Dominant (1;3)
Autosomal Recessive (2;8), Autosomal Semidominant (5;21)
0.643 2019-10-23
Diantha La Vine
DSS: sensitive day 10
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
total IgE level - increased
T ⇒ A missense possibly damaging 0.721
12 UTSW Dst 0.306 Phelps 1 33908225-34308661 bp (+) 34223795 Autosomal Semidominant (1;1) failed initial filter 2019-10-23
Anne Murray
behavior/neurological
FACS B1a cells in B1 cells - increased
FACS CD11c+ DCs - increased
growth/size
T ⇒ A splice site 9 bp probably null
13 UTSW Rab38 0.627 Fenrir 7 88430273-88491572 bp (+) 88450541 Autosomal Semidominant (1;5) 0.550 2019-10-23
Anne Murray
pigmentation
skin/coat/nails
T ⇒ A missense probably damaging 0.995
14 UTSW Ryr2 1.000 Arruda3 13 11553102-12106945 bp (-) 11555448 Autosomal Dominant (1;4) no linkage result 2019-10-23
Anne Murray
T ⇒ A missense possibly damaging 0.907
15 UTSW Cd8a 0.075 Alfalfa 6 71373427-71379173 bp (+) 71373728 Autosomal Dominant (1;4)
Autosomal Recessive (7;49), Autosomal Semidominant (8;72)
0.916 2019-10-23
Anne Murray
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD8 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 CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
MCMV susceptibility
post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
T ⇒ A missense probably damaging 0.989
16 UTSW Lyst 0.209 50-cal 13 13590397-13778803 bp (+) 13708212 Autosomal Recessive (6;68) 0.631 2019-10-14
Diantha La Vine
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS pDCs - increased
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
MCMV susceptibility
pigmentation
skin/coat/nails
T ⇒ A critical splice donor site 2 bp probably null
17 UTSW Zeb1 0.961 serpens 18 5591860-5775467 bp (+) 5772455 Autosomal Recessive (1;3) failed initial filter 2019-09-04
Anne Murray
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ A missense probably damaging 0.998
18 UTSW Slc9a8 0.000 costello 2 167421712-167477000 bp (+) 167451296 Autosomal Recessive (1;5) 0.429 2019-09-04
External Program
DSS: sensitive day 7
T ⇒ A missense probably damaging 1.000
19 UTSW Tlr4 0.000 Lops 4 66827584-66930284 bp (+) 66833880 Autosomal Semidominant (3;15) 0.959 2019-09-04
Katherine Timer
FACS B220 MFI - decreased
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
T ⇒ A splice site 14 bp probably null
20 UTSW Sell 0.000 dim_sum 1 164061982-164084181 bp (+) 164066201 Autosomal Dominant (1;4)
Autosomal Recessive (5;37)
0.973 2019-09-04
Peter Jurek
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
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
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T ⇒ A splice site 9 bp probably null
21 UTSW Pkd2 1.000 Nephro 5 104459450-104505819 bp (+) 104486806 Unknown (1;0) failed initial filter 2019-09-04
Anne Murray
renal/urinary system
T ⇒ A missense probably damaging 1.000
22 UTSW Lyst 0.209 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
23 UTSW Lyn 0.000 Cress 4 3678115-3813122 bp (+) 3789908 Autosomal Dominant (6;31)
Autosomal Recessive (4;18), Autosomal Semidominant (15;86)
0.945 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
total IgE level - decreased
T ⇒ A nonsense probably null
24 UTSW Rorc 0.803 macadamias 3 94372794-94398276 bp (+) 94397302 Autosomal Recessive (1;8) 0.938 2019-09-04
Diantha La Vine
T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ A nonsense probably null
25 UTSW Prkcb 0.000 Almonde 7 122288751-122634402 bp (+) 122582449 Autosomal Recessive (1;5)
Autosomal Semidominant (5;37)
0.960 2019-09-04
Diantha La Vine
FACS B1 cells - decreased
FACS IgM MFI - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
T ⇒ A missense probably damaging 1.000
26 UTSW Lepr 0.000 paleo 4 101717404-101815352 bp (+) 101745645 Autosomal Recessive (10;147) 0.955 2019-09-04
Diantha La Vine
adipose tissue
Body Weight - increased
Body Weight (DSS Female) - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (DSS, z-score) - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
FACS macrophages - increased
growth/size
T ⇒ A missense possibly damaging 0.938
27 UTSW Nlrp3 0.127 Park5 11 59541568-59566956 bp (+) 59548476 Autosomal Semidominant (2;11) 0.912 2019-09-04
Diantha La Vine
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
T ⇒ A missense probably damaging 0.991
28 UTSW Grid2 0.000 crawler 6 63255876-64704323 bp (+) 64429694 Autosomal Recessive (2;5) 0.132 2019-09-04
Anne Murray
behavior/neurological
growth/size
MCMV susceptibility
nervous system
T ⇒ A nonsense probably null
29 UTSW Ksr2 0.132 gigante 5 117414000-117775003 bp (+) 117671449 Unknown (1;0)
Autosomal Recessive (4;18)
0.674 2019-09-04
Anne Murray
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Z-score) - increased
growth/size
impaired response to dsDNA- type I IFN production by macrophages
T ⇒ A missense probably damaging 0.994
30 UTSW Pax1 0.594 wavy 2 147361925-147393295 bp (+) 147365802 Unknown (1;0) failed initial filter 2019-09-04
Anne Murray
limbs/digits/tail phenotype
T ⇒ A missense probably damaging 1.000
31 UTSW Immp2l 0.000 imp 12 41024090-41955588 bp (+) 41110847 Autosomal Recessive (8;53) 0.503 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
32 UTSW Malt1 0.417 yellowstone 18 65430962-65478823 bp (+) 65458200 Autosomal Recessive (3;8) 0.276 2019-09-04
Anne Murray
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 missense probably damaging 1.000
33 UTSW Mc4r 0.088 halloween 18 66857715-66860472 bp (-) 66859821 Autosomal Recessive (6;47)
Autosomal Semidominant (4;24)
0.868 2019-09-04
Diantha La Vine
125-03 Response - decreased
adipose tissue
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
growth/size
MTT Value of PECs - decreased
T-dependent humoral response defect- increased antibody response to rSFV
T ⇒ A missense probably damaging 0.999
34 UTSW Dsg4 0.598 burrito 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive (1;5) 0.181 2019-09-04
Anne Murray
skin/coat/nails
T ⇒ A missense possibly damaging 0.814
35 UTSW Slc26a4 0.000 discobolus 12 31519827-31559969 bp (-) 31540533 Autosomal Recessive (1;10) 0.440 2019-09-04
Katherine Timer
behavior/neurological
hearing/vestibular/ear
T ⇒ A nonsense probably null
36 UTSW Jak3 0.687 thistle2 8 71676296-71690575 bp (+) 71685545 Autosomal Recessive (23;160)
Autosomal Semidominant (1;4)
failed initial filter 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B1 cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
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 CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
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
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 - decreased
T ⇒ A missense probably damaging 1.000
37 UTSW Neurod1 0.935 cruz 2 79452521-79456751 bp (-) 79454595 Autosomal Recessive (3;13) failed initial filter 2019-09-04
Anne Murray
behavior/neurological
hearing/vestibular/ear
T ⇒ A missense probably damaging 1.000
38 UTSW Gamt 0.405 mr_bigger 10 80258151-80261012 bp (-) 80260724 Autosomal Recessive (4;30) 0.576 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
39 UTSW Itga11 0.096 sneezy 9 62677826-62783982 bp (+) 62732109 Autosomal Dominant (1;4)
Autosomal Recessive (3;22)
0.378 2019-09-04
Anne Murray
125-03 Response - decreased
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
T ⇒ A missense probably damaging 1.000
40 UTSW Tyrp1 0.193 butter 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive (1;7) 0.454 2019-09-04
Katherine Timer
pigmentation
skin/coat/nails
T ⇒ A critical splice donor site probably null
41 UTSW Cd36 0.101 almond_joy 5 17781690-17888801 bp (-) 17813088 Autosomal Recessive (1;5) no linkage result 2019-09-04
External Program
T ⇒ A missense probably damaging 1.000
42 UTSW Hcn2 0.000 curveball 10 79716634-79736108 bp (+) 79724786 Autosomal Recessive (7;42) 0.966 2019-09-04
Diantha La Vine
behavior/neurological
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
FACS CD4:CD8 - increased
FACS CD8+ T cells in CD3+ T cells - decreased
T ⇒ A missense probably damaging 0.998
43 UTSW Mc4r 0.088 Big_boned 18 66857715-66860472 bp (-) 66859488 Autosomal Recessive (1;5)
Autosomal Semidominant (7;38)
0.825 2019-09-04
Diantha La Vine
Body Weight - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
growth/size
T ⇒ A missense probably damaging 1.000
44 UTSW Themis 0.146 death_valley 10 28668360-28883818 bp (+) 28668727 Autosomal Recessive (5;41)
Autosomal Semidominant (5;25)
0.953 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+ T MFI - increased
FACS CD8+ T cells in CD3+ 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 T cells - decreased
T ⇒ A missense probably damaging 1.000
45 UTSW Klhl6 0.067 blossom 16 19946496-19983037 bp (-) 19957139 Autosomal Recessive (4;26) 0.934 2019-09-04
Diantha La Vine
FACS B:T cells - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS T cells - increased
T ⇒ A missense probably damaging 1.000
46 UTSW Slc24a4 0.000 spindly 12 102128733-102267091 bp (+) 102264944 Autosomal Recessive (1;3) failed initial filter 2019-09-04
Anne Murray
Body Weight - decreased
T ⇒ A critical splice donor site probably null
47 UTSW Lyst 0.209 robin 13 13590397-13778803 bp (+) 13648802 Autosomal Recessive (1;5) 0.529 2019-09-04
Diantha La Vine
pigmentation
skin/coat/nails
T ⇒ A nonsense probably null
48 UTSW Lrba 0.000 oscar2 3 86224680-86782692 bp (+) 86664458 Autosomal Recessive (2;12)
Autosomal Semidominant (1;4)
0.922 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
49 UTSW Myo1d 0.000 whisper3 11 80482126-80780025 bp (-) 80557521 Autosomal Recessive (2;9) 0.908 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
T ⇒ A missense probably damaging 1.000
50 UTSW Ltbr 0.160 bonsai 6 125306571-125313885 bp (-) 125312770 Autosomal Recessive (4;24)
Autosomal Semidominant (1;5)
0.529 2019-09-04
Diantha La Vine
Body Weight (Female) - increased
FACS NK1.1+ T cells - increased
growth/size
NK cell response - decreased
NK killing - decreased
T ⇒ A missense probably damaging 1.000
51 UTSW Pnp 0.105 porch2 14 50931082-50965237 bp (+) 50951506 Autosomal Recessive (19;131) 0.503 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 B220 MFI - increased
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
52 UTSW Ikzf1 0.000 Star_lord 11 11685003-11772926 bp (+) 11769448 Autosomal Dominant (18;131) 0.979 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
NK cell response - decreased
NK killing - decreased
T-dependent humoral response defect- increased antibody response to OVA+ alum immunization
T ⇒ A missense probably damaging 0.999
53 UTSW Stat2 0.200 numb 10 128270559-128292849 bp (+) 128281065 Autosomal Recessive (2;11) 0.331 2019-09-04
Diantha La Vine
FACS CD44+ CD8 T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
T ⇒ A splice site probably null
54 UTSW Agtpbp1 0.799 wobble 13 59445742-59585227 bp (-) 59474550 Autosomal Recessive (10;32) 0.913 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (DSS Male) - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
T ⇒ A missense probably damaging 1.000
55 UTSW Zap70 0.260 wanna4 1 36761798-36782818 bp (+) 36781365 Autosomal Recessive (25;386) 0.953 2019-09-04
Diantha La Vine
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 CD4:CD8 - increased
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+ 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 CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - increased
FACS IgM+ B 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 OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ A missense probably damaging 1.000
56 UTSW Dnajc3 0.490 vanishing 14 118937976-118981697 bp (+) 118972387 Autosomal Recessive (11;48) 0.951 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
DSS: sensitive day 7
FACS CD4+ T cells - increased
FACS CD44+ CD8 T cells - increased
FACS T cells - increased
T ⇒ A nonsense probably null
57 UTSW Rasgrp1 0.241 grouper 2 117279993-117343001 bp (-) 117302004 Autosomal Recessive (17;95)
Autosomal Semidominant (2;8)
0.969 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
58 UTSW Tap1 0.000 joplin 17 34187553-34197225 bp (+) 34193258 Autosomal Recessive (4;24) 0.924 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
59 UTSW Nfkb1 0.000 kookaburra 3 135584655-135691547 bp (-) 135626611 Autosomal Dominant (1;7)
Autosomal Recessive (4;54), Autosomal Semidominant (6;33)
0.969 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
60 UTSW Dsg2 0.201 weg 18 20558074-20604521 bp (+) 20580651 Autosomal Recessive (6;44) 0.920 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
FACS T cells - decreased
T ⇒ A nonsense probably null
61 UTSW Slc45a2 0.095 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
62 UTSW Tg 0.156 ito4 15 66670753-66850721 bp (+) 66696520 Autosomal Recessive (27;171) 0.897 2019-09-04
Diantha La Vine
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Bone: Femur Length (AI, residual) - decreased
Bone: Femur Length (AI, residual, male) - decreased
Bone: Pelvis Length (AI, residual) - decreased
Bone: Pelvis Length (AI, residual, male) - decreased
Bone: Tibia Length (AI, residual) - decreased
Bone: Tibia Length (AI, residual, male) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
total IgE level - increased
T ⇒ A missense possibly damaging 0.465
63 UTSW Epg5 0.920 stitch 18 77938467-78035027 bp (+) 77948299 Autosomal Recessive (2;13) 0.313 2019-09-04
Anne Murray
FACS CD44+ CD4 MFI - decreased
T ⇒ A nonsense probably null
64 UTSW Edar 0.289 two-tone 10 58600789-58675654 bp (-) 58603179 Autosomal Recessive (1;8)
Autosomal Semidominant (1;5)
failed initial filter 2019-09-04
Anne Murray
pigmentation
skin/coat/nails
T ⇒ A missense probably damaging 1.000
65 UTSW Ebf1 0.911 Oregano2 11 44617317-45008091 bp (+) 44990504 Autosomal Recessive (2;8)
Autosomal Semidominant (2;10)
0.909 2019-09-04
Diantha La Vine
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS T cells - increased
T ⇒ A splice site probably null
66 UTSW Siglecg 0.065 Montblanc 7 43408204-43418358 bp (+) 43411386 Autosomal Recessive (1;8)
Autosomal Semidominant (4;30)
0.653 2019-09-04
Diantha La Vine
FACS B1 cells - increased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B2 cells - decreased
FACS IgM MFI - decreased
T ⇒ A intron probably benign
67 UTSW Irf1 0.000 Longs_peak 11 53770014-53778374 bp (+) 53775936 Autosomal Semidominant (3;18) 0.346 2019-09-04
Anne Murray
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
T ⇒ A missense probably benign 0.267
68 UTSW Dicer1 1.000 everest 12 104687742-104751952 bp (-) 104705128 Autosomal Recessive (12;106) 0.321 2019-09-04
Anne Murray
FACS B:T cells - increased
FACS B1 cells - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ 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 naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
T ⇒ A missense probably damaging 1.000
69 UTSW Lyst 0.209 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
70 UTSW Tcf12 1.000 Poorly 9 71842688-72111871 bp (-) 71944016 Autosomal Dominant (7;35) 0.948 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
71 UTSW Ebf1 0.911 Catastrophic 11 44617317-45008091 bp (+) 44883885 Unknown (2;0)
Autosomal Dominant (15;125)
0.861 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - increased
FACS CD4+ T cells - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD8+ T cells - increased
FACS NK cells - decreased
FACS T cells - increased
T ⇒ A missense probably damaging 1.000
72 UTSW Cd3e 0.000 cadence 9 44998740-45009627 bp (-) 45001128 Autosomal Recessive (7;54) 0.475 2019-09-04
Anne Murray
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
T ⇒ A missense probably damaging 1.000
73 UTSW Pappa2 0.000 Pitzel 1 158711727-158980490 bp (-) 158956645 Autosomal Dominant (4;25) 0.273 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
T ⇒ A missense probably damaging 0.998
74 UTSW Casp8 1.000 Porto 1 58795374-58847503 bp (+) 58833698 Autosomal Dominant (3;13) 0.650 2019-09-04
Anne Murray
FACS B1 cells - decreased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
T ⇒ A missense possibly damaging 0.894
75 UTSW Dsg2 0.201 Dysjunction 18 20558074-20604521 bp (+) 20582939 Autosomal Dominant (1;4) 0.709 2019-09-04
Anne Murray
DSS: sensitive day 7
T ⇒ A nonsense probably null
76 UTSW Dsg2 0.201 dissolute 18 20558074-20604521 bp (+) 20595951 Autosomal Recessive (1;4) 0.894 2019-09-04
Anne Murray
DSS: sensitive day 10
T ⇒ A splice site probably null
77 UTSW Fnip1 0.699 Normandy 11 54438199-54518235 bp (+) 54493181 Autosomal Dominant (1;4) 0.065 2019-09-04
Anne Murray
FACS B220 MFI - decreased
T ⇒ A splice site probably benign
78 UTSW Klhl6 0.067 besmirched 16 19946496-19983037 bp (-) 19949447 Autosomal Dominant (1;4)
Autosomal Recessive (1;7)
0.798 2019-09-04
Diantha La Vine
FACS B220 MFI - decreased
FACS IgD MFI - increased
T ⇒ A splice site 3 bp probably null
79 UTSW Prkdc 0.955 Tweetie 16 15637866-15842235 bp (+) 15717801 Autosomal Semidominant (2;8) 0.616 2019-09-04
Diantha La Vine
FACS CD44+ CD8 MFI - increased
T ⇒ A missense probably damaging 1.000
80 UTSW Ptprc 0.000 Gyoza 1 138062861-138175708 bp (-) 138083567 Autosomal Dominant (2;9)
Autosomal Semidominant (1;4)
0.681 2019-09-04
Diantha La Vine
Body Weight (Male) - increased
FACS B1b cells in B1 cells - decreased
total IgE level - decreased
T ⇒ A missense probably damaging 1.000
81 UTSW Trp53bp1 0.000 split_pea 2 121193281-121271407 bp (-) 121228606 Autosomal Recessive (1;5) 0.896 2019-09-04
Diantha La Vine
FACS IgD MFI - decreased
T ⇒ A nonsense probably null
82 UTSW Themis 0.146 Meteor 10 28668360-28883818 bp (+) 28781832 Autosomal Dominant (1;4) 0.718 2019-09-04
Diantha La Vine
FACS CD4+ T cells - decreased
T ⇒ A missense possibly damaging 0.903
83 UTSW Lepr 0.000 gordo 4 101717404-101815352 bp (+) 101765305 Autosomal Recessive (5;37) 0.861 2019-09-04
Diantha La Vine
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (DSS, z-score) - increased
T ⇒ A missense probably damaging 0.972
84 UTSW Rag1 0.599 defective 2 101638282-101649501 bp (-) 101642710 Autosomal Recessive (7;83) 0.951 2019-09-04
Anne Murray
FACS B cells - decreased
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
FACS naive CD8 T cells in CD8 T cells - decreased
T ⇒ A missense probably damaging 1.000
85 UTSW Mc4r 0.088 Big_mac 18 66857715-66860472 bp (-) 66859856 Autosomal Dominant (10;47)
Autosomal Recessive (160;856), Autosomal Semidominant (98;472)
0.885 2019-09-04
Diantha La Vine
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
FACS NK cells - decreased
T ⇒ A missense probably damaging 1.000
86 UTSW Gh 0.207 atto 11 106300271-106301865 bp (-) 106301404 Autosomal Recessive (20;126)
Autosomal Semidominant (1;4)
0.606 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
T ⇒ A nonsense probably null
87 UTSW Card11 0.000 Caravaggio 5 140872990-141000582 bp (-) 140913309 Autosomal Dominant (1;25)
Autosomal Semidominant (10;81)
0.928 2019-09-04
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS CD44+ T MFI - decreased
FACS CD8+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS effector memory CD4 T cells in CD4 T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - decreased
FACS NK cells - decreased
FACS T cells - increased
T ⇒ A missense probably damaging 1.000
88 UTSW Cd8b1 0.082 denuded 6 71322788-71337494 bp (+) 71326340 Autosomal Dominant (1;5)
Autosomal Recessive (19;205), Autosomal Semidominant (3;21)
0.879 2019-09-04
Anne Murray
FACS B:T 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+ 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 CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
T ⇒ A missense probably damaging 1.000
89 UTSW Kit 0.955 Mooyah2 5 75574916-75656722 bp (+) 75652808 Unknown failed initial filter 2019-09-04
Diantha La Vine
pigmentation
skin/coat/nails
T ⇒ A missense probably damaging 1.000
90 UTSW Hcn2 0.000 mire 10 79716634-79736108 bp (+) 79729113 Autosomal Recessive (15;65)
Autosomal Semidominant (1;4)
0.975 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
FACS B cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
LPS Cachexia: Body Weight (day 0) - decreased
LPS Cachexia: Body Weight (day 0, z-score) - decreased
LPS Cachexia: Body Weight (day 1) - decreased
LPS Cachexia: Body Weight (day 2) - decreased
LPS Cachexia: Body Weight Change (day 1, g) - increased
LPS Cachexia: Body Weight Change (day 1, ratio) - increased
LPS Cachexia: Body Weight Change (day 2, g) - increased
LPS Cachexia: Body Weight Change (day 2, ratio) - increased
T ⇒ A critical splice donor site 2 bp probably null
91 UTSW Pappa 0.698 untersuchen 4 65124174-65357509 bp (+) 65297257 Autosomal Recessive (3;12) 0.864 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
T ⇒ A missense probably damaging 1.000
92 UTSW Pcdh15 0.000 mcduck 10 73099342-74649737 bp (+) 74626844 Unknown no linkage result 2019-07-25
Diantha La Vine
T ⇒ A critical splice donor site 2 bp probably null
93 UTSW Hps5 0.126 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
94 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
95 UTSW Stat1 0.000 domino 1 52119440-52161865 bp (+) 52140588 Unknown (3;0) no linkage results 2019-04-24
Diantha La Vine
immune system
MCMV proliferation in macrophages - increased
MCMV susceptibility
NK cell response - decreased
response to injected CpG DNA - decreased
RVFV susceptibility
T ⇒ A missense probably damaging 1.000
96 UTSW Hps6 0.000 stamper-coat 19 46003478-46006173 bp (+) 46003836 Unknown no linkage results 2019-04-01
Stephen Lyon
DSS: sensitive day 7
pigmentation
skin/coat/nails
T ⇒ A missense probably damaging 0.999
97 UTSW Lepr 0.000 business_class 4 101717404-101815352 bp (+) 101764872 Unknown no linkage results 2019-03-30
Diantha La Vine
adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
T ⇒ A missense probably damaging 1.000
98 UTSW Lepr 0.000 cherub 4 101717404-101815352 bp (+) 101768063 Unknown no linkage results 2019-03-30
Diantha La Vine
adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
reproductive system
T ⇒ A missense probably benign 0.252
99 UTSW Plcg2 0.000 queen 8 117498291-117635142 bp (+) 117581707 Unknown (1;0) no linkage results 2019-02-14
Diantha La Vine
Blood Analysis MCHC - decreased
Blood Analysis Platelet Count - decreased
FACS B1 cells - decreased
FACS B1a cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - increased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - decreased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
IgE response to a Cysteine Protease (Papain) - increased
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NLRP3 inflammasome: high response
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
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hyposensitivity to R848
T ⇒ A missense probably benign 0.002
100 UTSW Tap2 0.112 date 17 34203527-34216321 bp (+) 34212354 Autosomal Recessive (6;61) 0.946 2019-02-12
Diantha La Vine
FACS B:T cells - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ 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
T ⇒ A missense probably damaging 0.989
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