Phenotypic Mutations

518 mutations affecting 270 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 519] per page Full List
 
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1 UTSW Pparg 1.000 6 115360951-115490399 bp (+) 115451044 Unknown (4;0)
 Autosomal Dominant (5;20)
potential candidate 2019-11-06
Bruce Beutler
 Body Weight - decreased
 Body Weight (DSS) - decreased
 Body Weight (DSS, z-score) - decreased
 Body Weight (Z-score) - decreased
 growth/size
G ⇒ T missense probably damaging 1.000
2 UTSW Elmo1 0.000 13 20090596-20608353 bp (+) 20373161 Autosomal Dominant (2;10)
 Autosomal Recessive (1;7)

 Autosomal Semidominant (1;3)
excellent candidate 2019-10-29
Diantha La Vine
 FACS B220 MFI - decreased
 FACS CD4:CD8 - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS NK cells - decreased
T ⇒ C missense probably damaging 1.000
3 UTSW Ryr2 1.000 13 11553102-12106945 bp (-) 11879496 Autosomal Recessive (4;16)
 Autosomal Semidominant (3;23)
excellent candidate 2019-10-29
Anne Murray
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 2 - decreased
 Blood Pressure: HR Day 3 - decreased
G ⇒ T missense probably damaging 0.998
4 UTSW Il2rb 0.120 15 78479256-78495271 bp (-) 78481936 Autosomal Recessive (1;4) excellent candidate (Recruited) 2019-10-23
Diantha La Vine
 total IgE level - increased
T ⇒ A missense possibly damaging 0.721
5 UTSW Syk 1.000 13 52583173-52648792 bp (+) 52640733 Unknown (2;0)
 Autosomal Dominant (2;2)

 Autosomal Recessive (2;2)


 Autosomal Semidominant (1;3)
failed initial filter 2019-10-23
Anne Murray
 FACS B cells - decreased
 TLR signaling defect: hypersensitivity to LPS
 TLR signaling defect: hypersensitivity to MALP2
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
A ⇒ G missense probably damaging 1.000
6 UTSW Prkce 0.000 17 86167785-86657919 bp (+) 86476851 Autosomal Semidominant (1;5) not good candidate 2019-10-23
Anne Murray
 FACS NK cells - decreased
C ⇒ T missense probably damaging 0.997
7 UTSW Zbtb1 0.718 12 76370266-76396950 bp (+) 76385891 Autosomal Recessive (1;6)
 Autosomal Semidominant (2;10)
potential candidate 2019-10-23
Anne Murray
 FACS CD44+ CD8 MFI - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS NK T cells - increased
C ⇒ T missense probably damaging 0.965
8 UTSW Ptpn6 0.492 6 124720707-124738714 bp (-) 124721789 Autosomal Dominant (1;5)
 Autosomal Recessive (1;4)

 Autosomal Semidominant (1;5)
not good candidate (Recruited) 2019-10-23
Anne Murray
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ T MFI - increased
T ⇒ C missense probably benign 0.423
9 UTSW Trpc1 0.200 9 95705082-95750375 bp (-) 95726437 Autosomal Recessive (3;14)
 Autosomal Semidominant (5;29)
excellent candidate 2019-10-23
Diantha La Vine
 Body Weight - increased
 Body Weight (BP) - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 Body Weight (Z-score) - increased
 Motor: Rotarod Weight - increased
T ⇒ C missense probably damaging 1.000
10 UTSW Nlrc4 0.154 17 74426295-74459108 bp (-) 74445630 Autosomal Semidominant (1;3) failed initial filter 2019-10-23
Peter Jurek
 Nlrc4 inflammasome: low response
A ⇒ G missense probably damaging 0.999
11 UTSW Rab38 0.521 7 88430273-88491572 bp (+) 88450541 Unknown no Linkage result 2019-10-23
Anne Murray
T ⇒ A missense probably damaging 0.995
12 UTSW
has photo
Hps3 0.204 3 19995945-20035315 bp (-) 20030796 Autosomal Semidominant (1;1) failed initial filter 2019-10-23
Anne Murray
 pigmentation
 skin/coat/nails
A ⇒ C missense probably damaging 1.000
13 UTSW Ryr2 1.000 13 11553102-12106945 bp (-) 11555448 Autosomal Dominant (1;4) not good candidate 2019-10-23
Anne Murray
 Blood Pressure: HR Average - decreased
T ⇒ A missense possibly damaging 0.907
14 UTSW Cd8a 0.076 6 71373427-71379173 bp (+) 71373728 Autosomal Dominant (1;4)
 Autosomal Recessive (7;49)

 Autosomal Semidominant (6;64)
excellent candidate 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
T ⇒ A missense probably damaging 0.989
15 UTSW Prkcb 0.000 7 122288751-122634402 bp (+) 122424977 Autosomal Recessive (2;9)
 Autosomal Semidominant (1;4)
excellent candidate 2019-10-14
Diantha La Vine
 FACS CD8+ T cells - increased
 FACS T cells - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ T missense probably damaging 1.000
16 UTSW Smcr8 0.000 11 60777524-60788287 bp (+) 60778032 Autosomal Recessive (6;34)
 Autosomal Semidominant (1;6)
excellent candidate 2019-10-10
External Program
 DSS: sensitive day 10
 DSS: sensitive day 7
 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 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
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
T ⇒ C missense probably damaging 1.000
17 UTSW Gys2 0.202 6 142422613-142473109 bp (-) 142456333 Autosomal Recessive (2;13) potential candidate 2019-09-24
External Program
 30 min GTT hyperoglycemic (female)
T ⇒ C missense probably benign 0.001
18 UTSW Bcl10 0.000 3 145922804-145934356 bp (+) 145930587 Autosomal Dominant (1;4)
 Autosomal Recessive (14;151)

 Autosomal Semidominant (2;11)
excellent candidate 2019-09-11
External Program
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - decreased
 FACS B1b cells in B1 cells - decreased
 FACS B2 cells - increased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS macrophages - decreased
 FACS neutrophils - decreased
 FACS NK cells - decreased
 FACS T cells - increased
 IgG1 response to a Cysteine Protease (Papain) - decreased
 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
A ⇒ G missense probably damaging 0.999
19 UTSW Ptpn6 0.492 6 124720707-124738714 bp (-) 124732435 Autosomal Recessive (19;136) excellent candidate 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 CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - 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
T ⇒ C missense probably damaging 1.000
20 UTSW Zeb1 0.881 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
21 UTSW Slc9a8 0.000 2 167421712-167477000 bp (+) 167451296 Unknown potential candidate 2019-09-04
External Program
 DSS: sensitive day 7
T ⇒ A missense probably damaging 1.000
22 UTSW Jak3 0.524 8 71676296-71690575 bp (+) 71683377 Autosomal Recessive (28;212)
 Autosomal Semidominant (3;15)
excellent candidate 2019-09-04
Diantha La Vine
 125-03 Response - decreased
 FACS B cells - 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+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ 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 IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - decreased
 FACS T cells - decreased
 MCMV susceptibility
 OVA-specific IgE - increased
 post-MCMV FACS B cells - decreased
 post-MCMV FACS CD11c+ DCs - decreased
 post-MCMV FACS CD4:CD8 - increased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - 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
 total IgE level - increased
A ⇒ G missense probably damaging 1.000
23 UTSW Insr 0.890 8 3122061-3279617 bp (-) 3161770 Autosomal Recessive (2;10)
 Autosomal Semidominant (1;2)
excellent candidate 2019-09-04
Diantha La Vine
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS neutrophils - increased
A ⇒ G missense probably damaging 1.000
24 UTSW Rac2 0.000 15 78559167-78572783 bp (-) 78564968 Autosomal Recessive (1;6) excellent candidate 2019-09-04
Anne Murray
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ C missense probably damaging 1.000
25 UTSW Arnt2 1.000 7 84246278-84410176 bp (-) 84347530 Autosomal Dominant (2;2)
 Autosomal Semidominant (3;17)
excellent candidate 2019-09-04
External Program
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 Body Weight (Z-score) - increased
 DSS: sensitive day 10
 growth/size
 NK cell response - decreased
 NK killing - decreased
G ⇒ A missense probably damaging 1.000
26 UTSW Nlrp3 0.086 11 59541568-59566956 bp (+) 59565850 Autosomal Semidominant (1;3) failed initial filter 2019-09-04
Diantha La Vine
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
A ⇒ G missense probably benign 0.017
27 UTSW
has video
Rorb 0.000 19 18930605-19111196 bp (-) 18955053 Autosomal Recessive (3;12) excellent candidate 2019-09-04
Anne Murray
 behavior/neurological
 limbs/digits/tail phenotype
 nervous system
A ⇒ G missense probably damaging 1.000
28 UTSW
has video
Scn8a 0.821 15 100869858-101045938 bp (+) 101035646 Unknown (1;0)
 Autosomal Recessive (1;5)
potential candidate 2019-09-04
Anne Murray
 behavior/neurological
 Body Weight - decreased
 growth/size
A ⇒ G missense probably damaging 1.000
29 UTSW Adgrf5 0.000 17 43360451-43459557 bp (+) 43450983 Autosomal Recessive (1;5) not good candidate 2019-09-04
Diantha La Vine
 30 min GTT hyperglycemic
A ⇒ T missense probably damaging 0.957
30 UTSW Apbb2 0.000 5 66298703-66618784 bp (-) 66400255 Autosomal Recessive (1;3) failed initial filter 2019-09-04
External Program
 30 min GTT hyperglycemic
 30 min GTT hyperglycemic (male)
T ⇒ A missense probably damaging 0.996
31 UTSW
has photo
Pkd2 1.000 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
32 UTSW Sppl2a 0.102 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive (1;5) excellent candidate 2019-09-04
Katherine Timer
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ G missense probably benign 0.002
33 UTSW Nr3c2 1.000 8 76899442-77245012 bp (+) 76908668 Autosomal Recessive (1;5) not good candidate 2019-09-04
Bruce Beutler
 Body Weight - decreased
 growth/size
A ⇒ G unclassified probably null
34 UTSW Nlrp3 0.086 11 59541568-59566956 bp (+) 59549531 Autosomal Dominant (1;9)
 Autosomal Semidominant (1;6)
excellent candidate 2019-09-04
Diantha La Vine
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
A ⇒ G missense probably benign 0.190
35 UTSW
has photo
Tyr 0.340 7 87424771-87493512 bp (-) 87492706 Autosomal Recessive (1;3) failed initial filter 2019-09-04
Anne Murray
 pigmentation
 skin/coat/nails
C ⇒ A missense probably damaging 1.000
36 UTSW
has photo
Adamts20 0.147 15 94270163-94465418 bp (-) 94345990 Autosomal Recessive (1;1) failed initial filter 2019-09-04
Diantha La Vine
 pigmentation
 skin/coat/nails
A ⇒ T missense probably damaging 1.000
37 UTSW
has video
Syt2 0.150 1 134646677-134762593 bp (+) 134747620 Autosomal Recessive (1;3)
 Autosomal Semidominant (1;1)
failed initial filter 2019-09-04
Anne Murray
 behavior/neurological
 Body Weight - decreased
 growth/size
 lethality-postnatal
 nervous system
C ⇒ A missense probably damaging 0.998
38 UTSW Prkcb 0.000 7 122288751-122634402 bp (+) 122582449 Autosomal Semidominant (4;31) excellent candidate 2019-09-04
Diantha La Vine
 FACS B1 cells - decreased
 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
T ⇒ A missense probably damaging 1.000
39 UTSW Lepr 0.000 4 101717404-101815352 bp (+) 101745645 Autosomal Recessive (10;147) excellent candidate 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
40 UTSW Nfkb2 0.579 19 46304737-46312090 bp (+) 46311626 Unknown (1;0)
 Autosomal Recessive (1;4)
not good candidate 2019-09-04
Diantha La Vine
 FACS B1a cells - increased
A ⇒ T missense possibly damaging 0.956
41 UTSW Nlrp3 0.086 11 59541568-59566956 bp (+) 59548476 Autosomal Semidominant (3;15) excellent candidate 2019-09-04
Diantha La Vine
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
 T-dependent humoral response defect- increased antibody response to rSFV
T ⇒ A missense probably damaging 0.991
42 UTSW Gck 1.000 11 5900820-5950081 bp (-) 5902165 Autosomal Recessive (2;8)
 Autosomal Semidominant (1;4)
failed initial filter 2019-09-04
Katherine Timer
 30 min GTT hyperglycemic
 30 min GTT hyperoglycemic (female)
A ⇒ T missense probably damaging 1.000
43 UTSW Tnfsf13b 0.080 8 10006467-10039072 bp (+) 10031534 Autosomal Recessive (1;1)
 Autosomal Semidominant (1;5)
excellent candidate 2019-09-04
Diantha La Vine
 FACS B:T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ C missense probably damaging 1.000
44 UTSW Irf7 0.000 7 141262706-141266481 bp (-) 141264022 Autosomal Recessive (1;4) not good candidate 2019-09-04
Anne Murray
 Nlrc4 inflammasome: high response
T ⇒ C missense probably damaging 0.992
45 UTSW Lyst 0.248 13 13590397-13778803 bp (+) 13757422 Autosomal Semidominant (2;11) potential candidate 2019-09-04
Diantha La Vine
 125-03 Response - decreased
 phagocytosis in PECs - increased
T ⇒ C missense probably benign 0.004
46 UTSW Lck 0.000 4 129548344-129573641 bp (-) 129558127 Autosomal Recessive (11;60)
 Autosomal Semidominant (2;8)
excellent candidate 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
 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
47 UTSW Nos3 0.000 5 24364810-24384474 bp (+) 24372704 Autosomal Recessive (2;8) excellent candidate 2019-09-04
Diantha La Vine
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 3 - decreased
 Blood Pressure: MBP Average - increased
 Blood Pressure: MBP Day 2 - increased
 Blood Pressure: SBP Average - increased
 Blood Pressure: SBP Day 2 - increased
 Blood Pressure: SBP Day 3 - increased
 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
48 UTSW Adamts20 0.147 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
49 UTSW Mc4r 0.067 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive (5;32) excellent candidate 2019-09-04
Diantha La Vine
 adipose tissue
 Body Weight - increased
 Body Weight (DSS) - increased
 Body Weight (DSS, z-score) - increased
 Body Weight (Z-score) - increased
 growth/size
A ⇒ T missense probably damaging 0.999
50 UTSW Hr 0.000 14 70552212-70573548 bp (+) 70571448 Unknown failed initial filter 2019-09-04
Diantha La Vine
 Body Weight (DSS Male) - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 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 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS T cells - decreased
G ⇒ A missense probably damaging 1.000
51 UTSW Lyst 0.248 13 13590397-13778803 bp (+) 13740536 Autosomal Recessive (1;5) potential candidate 2019-09-04
Diantha La Vine
 MCMV susceptibility
T ⇒ C missense possibly damaging 0.908
52 UTSW
has photo
Ksr2 0.135 5 117414000-117775003 bp (+) 117671449 Unknown (1;0)
 Autosomal Recessive (2;9)
potential candidate 2019-09-04
Anne Murray
 growth/size
 impaired response to dsDNA- type I IFN production by macrophages
T ⇒ A missense probably damaging 0.994
53 UTSW Rhbdf2 0.000 11 116598165-116627019 bp (-) 116600191 Autosomal Semidominant (7;57) excellent candidate 2019-09-04
Katherine Timer
 125-03 Response - decreased
 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
A ⇒ T missense possibly damaging 0.936
54 UTSW
has photo
Adamts20 0.147 15 94270163-94465418 bp (-) 94331458 Autosomal Recessive (1;1) failed initial filter 2019-09-04
Diantha La Vine
 pigmentation
 skin/coat/nails
A ⇒ C missense probably damaging 1.000
55 UTSW Atp2b2 0.870 6 113743831-114042613 bp (-) 113760650 Autosomal Recessive (3;10) excellent candidate 2019-09-04
Diantha La Vine
 behavior/neurological
 Body Weight - decreased
 Body Weight (Z-score) - decreased
 hearing/vestibular/ear
A ⇒ G missense probably damaging 1.000
56 UTSW Ccr7 0.202 11 99144196-99155077 bp (-) 99145277 Autosomal Recessive (3;14)
 Autosomal Semidominant (1;5)
potential candidate 2019-09-04
Bruce Beutler
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - increased
 FACS macrophages - decreased
 FACS T cells - increased
A ⇒ T missense possibly damaging 0.899
57 UTSW Cd40 0.000 2 165055627-165072948 bp (+) 165062301 Autosomal Recessive (2;12)
 Autosomal Semidominant (1;3)
potential candidate 2019-09-04
Katherine Timer
 OVA-specific IgE - increased
 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 ⇒ C missense probably benign 0.226
58 UTSW Tlr3 0.108 8 45395665-45411080 bp (-) 45397697 Autosomal Dominant (1;4) not good candidate 2019-09-04
Katherine Timer
 TLR signaling defect: hyposensitivity to poly I:C
 TLR signaling defect: TNF production by macrophages
A ⇒ G missense probably benign 0.084
59 UTSW Card11 0.000 5 140872990-141000582 bp (-) 140906767 Autosomal Recessive (1;7) not good candidate 2019-09-04
Diantha La Vine
 FACS B1a cells - increased
T ⇒ C missense probably damaging 0.959
60 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34708793 Autosomal Recessive (5;24) excellent candidate 2019-09-04
Diantha La Vine
 FACS B1b cells in B1 cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
T ⇒ C missense probably damaging 1.000
61 UTSW Tap1 0.000 17 34187553-34197225 bp (+) 34194941 Autosomal Dominant (2;9)
 Autosomal Recessive (6;35)

 Autosomal Semidominant (1;6)
good candidate 2019-09-04
Diantha La Vine
 FACS CD4:CD8 - increased
 MCMV susceptibility
 post-MCMV FACS CD4:CD8 - increased
 post-MCMV FACS CD4+ T cells - decreased
 post-MCMV FACS CD44+ CD8 T cells - decreased
 post-MCMV FACS CD44+ T cells - decreased
 post-MCMV FACS CD8+ T cells - decreased
 post-MCMV FACS IgM+ B cells - decreased
 post-MCMV FACS T cells - decreased
T ⇒ G missense probably damaging 1.000
62 UTSW Ikbkb 1.000 8 22659212-22706589 bp (-) 22666020 Autosomal Recessive (2;8)
 Autosomal Semidominant (5;21)
excellent candidate 2019-09-04
Diantha La Vine
 IgG1 response to a Cysteine Protease (Papain) - decreased
 MCMV susceptibility
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B1b cells in B1 cells - increased
 post-MCMV FACS CD44+ CD4 MFI - decreased
 post-MCMV FACS CD44+ CD8 MFI - decreased
 post-MCMV FACS CD44+ CD8 T cells - decreased
 post-MCMV FACS CD44+ T MFI - decreased
 post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS effector memory CD8 T cells in CD8 T cells - decreased
 TLR signaling defect: hyposensitivity to MALP2
A ⇒ G missense probably damaging 1.000
63 UTSW Cacna2d2 0.912 9 107399612-107529343 bp (+) 107513280 Autosomal Recessive (2;15) potential candidate 2019-09-04
Diantha La Vine
 Body Weight - decreased
 Body Weight (Male) - decreased
 growth/size
T ⇒ C missense probably damaging 0.999
64 UTSW Kbtbd2 0.000 6 56777524-56797813 bp (-) 56779090 Autosomal Recessive (5;30) excellent candidate 2019-09-04
Anne Murray
 30 min GTT hyperglycemic
 Body Weight - decreased
 Body Weight (Male) - decreased
 Body Weight (Z-score) - decreased
 growth/size
A ⇒ G missense probably damaging 0.996
65 UTSW Dck 0.000 5 88764996-88783281 bp (+) 88772723 Autosomal Recessive (19;119) excellent candidate 2019-09-04
External Program
 Body Weight - decreased
 Body Weight (Z-score) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS B220 MFI - decreased
 FACS CD11c+ DCs - 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+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS CD8a+ DCs (gated in CD11c+ 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 IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 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
 OVA-specific IgE - increased
 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 - increased
T ⇒ C missense probably damaging 1.000
66 UTSW Atp7b 0.783 8 21992785-22060305 bp (-) 21998266 Unknown (1;0) failed initial filter 2019-09-04
Anne Murray
 liver/biliary system
 MTT Value of PECs - decreased
T ⇒ G missense probably damaging 1.000
67 UTSW Pax1 0.581 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
68 UTSW Rims4 0.175 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive (2;12) good candidate 2019-09-04
Anne Murray
 Body Weight - decreased
 Body Weight (Z-score) - decreased
 growth/size
A ⇒ T missense probably damaging 0.994
69 UTSW Fasl 0.380 1 161780689-161788495 bp (-) 161787138 Autosomal Recessive (1;6) potential candidate 2019-09-04
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ G missense probably benign 0.001
70 UTSW Pappa2 0.000 1 158711727-158980490 bp (-) 158716990 Autosomal Semidominant (3;18) excellent candidate 2019-09-04
Diantha La Vine
 Body Weight - decreased
 Body Weight (Male) - decreased
 Body Weight (Z-score) - decreased
 growth/size
C ⇒ A missense probably damaging 1.000
71 UTSW Cd22 0.000 7 30865402-30880342 bp (-) 30870105 Autosomal Recessive (7;42) excellent candidate 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
72 UTSW Itgb2 0.373 10 77530252-77565708 bp (+) 77559681 Autosomal Recessive (2;21) potential candidate 2019-09-04
Diantha La Vine
 dsDNA induced type I IFN production - increased
 impaired response to dsDNA- type I IFN production by macrophages
G ⇒ A missense probably benign 0.001
73 UTSW Slc13a5 0.000 11 72241989-72267222 bp (-) 72262076 Autosomal Recessive (1;4)
 Autosomal Semidominant (4;19)
excellent candidate 2019-09-04
Diantha La Vine
 Body Weight - decreased
 Body Weight (DSS) - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 Body Weight (Z-score) - decreased
 growth/size
A ⇒ G missense probably damaging 0.998
74 UTSW Smtn 0.800 11 3517523-3540612 bp (-) 3531326 Autosomal Recessive (1;6) not good candidate 2019-09-04
Anne Murray
 Body Weight - decreased
 growth/size
G ⇒ T missense possibly damaging 0.895
75 UTSW Syk 1.000 13 52583173-52648792 bp (+) 52640790 Unknown (1;0) potential candidate 2019-09-04
External Program
 FACS B cells - increased
 IgE response to a Cysteine Protease (Papain) - increased
A ⇒ G missense probably damaging 1.000
76 UTSW
has photo
Mlph 0.094 1 90915085-90951142 bp (+) 90928122 Unknown no Linkage result 2019-09-04
Anne Murray
T ⇒ C missense probably damaging 1.000
77 UTSW Itk 0.172 11 46325150-46389515 bp (-) 46338217 Autosomal Recessive (10;58) excellent candidate 2019-09-04
Anne Murray
 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 central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 IgE response to a Cysteine Protease (Papain) - increased
 total IgE level - increased
A ⇒ G missense probably damaging 1.000
78 UTSW Tlr4 0.000 4 66827584-66930284 bp (+) 66841172 Unknown (1;0)
 Autosomal Recessive (4;20)
not good candidate 2019-09-04
Katherine Timer
 FACS B cells - decreased
 FACS B220 MFI - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
T ⇒ C missense probably damaging 1.000
79 UTSW Tlr4 0.000 4 66827584-66930284 bp (+) 66839444 Autosomal Recessive (1;4) failed initial filter 2019-09-04
Anne Murray
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
A ⇒ T missense probably damaging 0.998
80 UTSW Malt1 0.341 18 65430962-65478823 bp (+) 65458200 Autosomal Recessive (3;8) excellent candidate 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
81 UTSW Zap70 0.198 1 36761798-36782818 bp (+) 36781412 Unknown (11;0)
 Autosomal Dominant (4;8)

 Autosomal Recessive (3;49)
excellent candidate 2019-09-04
Diantha La Vine
 dsDNA induced type I IFN production - increased
 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 effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS NK cells - increased
 FACS T cells - decreased
 impaired response to dsDNA- type I IFN production by macrophages
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ C missense probably damaging 1.000
82 UTSW Prkcq 0.000 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive (1;6) excellent candidate 2019-09-04
Anne Murray
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
A ⇒ G missense possibly damaging 0.822
83 UTSW
has photo
Mc4r 0.067 18 66857715-66860472 bp (-) 66859821 Autosomal Recessive (4;39)
 Autosomal Semidominant (2;16)
excellent candidate 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
T ⇒ A missense probably damaging 0.999
84 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34689760 Autosomal Recessive (3;14)
 Autosomal Semidominant (3;18)
excellent candidate 2019-09-04
Diantha La Vine
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
A ⇒ T missense probably damaging 0.999
85 UTSW Slfn2 0.053 11 83065112-83070678 bp (+) 83069564 Autosomal Recessive (1;5) not good candidate 2019-09-04
Anne Murray
 T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ T missense probably benign 0.045
86 UTSW Cntnap1 0.594 11 101170523-101190724 bp (+) 101186764 Autosomal Semidominant (1;5) not good candidate 2019-09-04
Anne Murray
 Body Weight - decreased
A ⇒ G missense probably damaging 0.994
87 UTSW Rac2 0.000 15 78559167-78572783 bp (-) 78565945 Autosomal Dominant (1;2)
 Autosomal Recessive (5;12)

 Autosomal Semidominant (2;10)
excellent candidate 2019-09-04
Diantha La Vine
 FACS B1 cells - decreased
 FACS B1a cells - decreased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - increased
 FACS B1b cells in B1 cells - increased
 FACS CD4:CD8 - increased
 FACS CD8+ T cells - decreased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ G missense possibly damaging 0.955
88 UTSW Galc 0.000 12 98202294-98259459 bp (-) 98234266 Autosomal Semidominant (1;7) potential candidate 2019-09-04
Diantha La Vine
 Body Weight - decreased
T ⇒ C missense probably damaging 1.000
89 UTSW Lyn 0.000 4 3678115-3813122 bp (+) 3745330 Autosomal Recessive (1;4)
 Autosomal Semidominant (2;12)
not good candidate 2019-09-04
Diantha La Vine
 FACS B1 cells - increased
 FACS CD8+ T cells - decreased
 FACS macrophages - increased
 FACS T cells - decreased
G ⇒ T missense probably damaging 1.000
90 UTSW Cd8b1 0.082 6 71322788-71337494 bp (+) 71334101 Autosomal Recessive (1;4)
 Autosomal Semidominant (3;15)
excellent candidate 2019-09-04
Diantha La Vine
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
 T-dependent humoral response defect- increased antibody response to rSFV
A ⇒ G missense probably damaging 0.996
91 UTSW
has photo
Adamts20 0.147 15 94270163-94465418 bp (-) 94403445 Autosomal Recessive (1;12) excellent candidate 2019-09-04
Diantha La Vine
 pigmentation
 skin/coat/nails
C ⇒ T missense probably damaging 0.999
92 UTSW
has photo
Dsg4 0.563 18 20436175-20471821 bp (+) 20451862 Autosomal Recessive (1;5) potential candidate 2019-09-04
Anne Murray
 skin/coat/nails
T ⇒ A missense possibly damaging 0.814
93 UTSW Socs7 0.000 11 97362551-97398542 bp (+) 97373124 Autosomal Dominant (1;3) failed initial filter 2019-09-04
Anne Murray
 Body Weight - decreased
T ⇒ C missense probably benign 0.147
94 UTSW Myo1d 0.000 11 80482126-80780025 bp (-) 80666578 Autosomal Recessive (2;11) excellent candidate 2019-09-04
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
A ⇒ T missense probably damaging 1.000
95 UTSW Lep 0.000 6 29060220-29073877 bp (+) 29069090 Autosomal Recessive (1;4) potential candidate 2019-09-04
Anne Murray
 Body Weight - increased
 Body Weight (DSS) - increased
 growth/size
C ⇒ A missense possibly damaging 0.952
96 UTSW Ticam1 0.000 17 56269319-56276786 bp (-) 56271339 Unknown (2;0)
 Autosomal Dominant (2;8)
potential candidate 2019-09-04
Anne Murray
 TLR signaling defect: hyposensitivity to poly I:C + IFNg
 TLR signaling defect: TNF production by macrophages
A ⇒ G missense probably benign 0.063
97 UTSW Yap1 1.000 9 7931999-8004596 bp (-) 8004284 Autosomal Semidominant (1;5) excellent candidate 2019-09-04
Anne Murray
 DSS: sensitive day 10
C ⇒ T missense probably damaging 1.000
98 UTSW Jak3 0.524 8 71676296-71690575 bp (+) 71685545 Autosomal Recessive (22;153) 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 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
T ⇒ A missense probably damaging 1.000
99 UTSW Tlr4 0.000 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive (3;31)
 Autosomal Semidominant (3;16)
excellent candidate 2019-09-04
Katherine Timer
 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
100 UTSW Adgre1 0.236 17 57358686-57483529 bp (+) 57402811 Autosomal Recessive (1;7) excellent candidate 2019-09-04
Katherine Timer
 FACS macrophages - decreased
A ⇒ G missense unknown
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