Phenotypic Mutations

47 mutations affecting 45 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 47 of 47] per page Full List
 




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Verification Probability

Phenotypic Category

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1 UTSW Rac2 0.000 Potter 15 78559167-78572783 bp (-) 78570743 Autosomal Recessive (4;19)
Autosomal Semidominant (2;11)
0.880 2020-07-29
External Program
FACS B cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ T nonsense probably null
2 UTSW Pparg 1.000 Energy 6 115360951-115490399 bp (+) 115451044 Unknown (4;0)
Autosomal Dominant (5;20)
0.273 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
3 UTSW Ryr2 1.000 Arruda2 13 11553102-12106945 bp (-) 11879496 Autosomal Recessive (4;16)
Autosomal Semidominant (3;23)
no linkage result 2019-10-29
Anne Murray
G ⇒ T missense probably damaging 0.998
4 UTSW
has video
Pcdh15 0.000 Tortilla 10 73099342-74649737 bp (+) 74379417 Autosomal Recessive (1;6)
Autosomal Semidominant (2;9)
0.317 2019-10-23
Diantha La Vine
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
OVA-specific IgE after 2nd OVA/Alum - increased
G ⇒ T splice site probably null
5 UTSW
has photohas video
Grm1 0.151 donald 10 10686059-11082356 bp (-) 10741508 Autosomal Recessive (1;2) failed initial filter 2019-09-04
Diantha La Vine
behavior/neurological
growth/size
life span-post-weaning/aging
skeleton phenotype
G ⇒ T nonsense probably null
6 UTSW Smtn 0.426 runtish 11 3517523-3540612 bp (-) 3531326 Autosomal Recessive (1;6) 0.102 2019-09-04
Anne Murray
Body Weight - decreased
growth/size
G ⇒ T missense possibly damaging 0.895
7 UTSW Naip5 0.071 inwood2 13 100211739-100246323 bp (-) 100223014 Autosomal Recessive (1;6) 0.871 2019-09-04
Anne Murray
Nlrc4 inflammasome: low response
G ⇒ T nonsense probably null
8 UTSW Lyn 0.000 Pacific 4 3678115-3813122 bp (+) 3745330 Autosomal Recessive (1;4)
Autosomal Semidominant (4;22)
0.722 2019-09-04
Diantha La Vine
FACS B1 cells - increased
FACS CD8+ T cells - decreased
FACS macrophages - increased
FACS NK cells - decreased
FACS T cells - decreased
G ⇒ T missense probably damaging 1.000
9 UTSW Bcl3 0.000 sunrise 7 19808462-19822770 bp (-) 19811580 Autosomal Dominant (1;5)
Autosomal Recessive (7;47), Autosomal Semidominant (3;15)
0.766 2019-09-04
Diantha La Vine
FACS B1 cells - increased
FACS B1b cells in B1 cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS macrophages - increased
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to rSFV
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
G ⇒ T nonsense probably null
10 UTSW Ly96 0.103 pique 1 16688051-16709611 bp (+) 16691716 Autosomal Recessive (4;25) 0.727 2019-09-04
Anne Murray
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
G ⇒ T nonsense probably null
11 UTSW Trp53bp1 0.000 lentil2 2 121193281-121271407 bp (-) 121207887 Autosomal Recessive (7;57)
Autosomal Semidominant (2;9)
0.982 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Z-score) - decreased
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 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
G ⇒ T missense probably damaging 1.000
12 UTSW Card11 0.000 unmodulated2 5 140872990-141000582 bp (-) 140883782 Autosomal Dominant (2;10)
Autosomal Recessive (10;112), Autosomal Semidominant (5;51)
0.975 2019-09-04
Diantha La Vine
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - decreased
FACS NK1.1+ T cells - increased
FACS 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
G ⇒ T splice site probably null
13 UTSW Themis 0.129 cloudies 10 28668360-28883818 bp (+) 28761199 Autosomal Recessive (19;252) 0.941 2019-09-04
Diantha La Vine
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B:T cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
G ⇒ T nonsense probably null
14 UTSW Cd79a 0.108 elementary 7 24897381-24902197 bp (+) 24899262 Autosomal Recessive (2;13)
Autosomal Semidominant (1;5)
0.862 2019-09-04
Anne Murray
FACS B1 cells - decreased
FACS B1b cells - decreased
FACS IgD MFI - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ T missense probably damaging 0.999
15 UTSW Ppp3cb 0.000 eden_express 14 20499364-20546573 bp (-) 20528195 Autosomal Dominant (1;6)
Autosomal Recessive (4;39), Autosomal Semidominant (4;18)
0.954 2019-09-04
Diantha La Vine
FACS B:T cells - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS macrophages - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - increased
FACS T cells - decreased
IgG1 response to a Cysteine Protease (Papain) - decreased
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
total IgE level - increased
G ⇒ T nonsense probably null
16 UTSW Bbs9 0.727 corpulent 9 22475715-22888280 bp (+) 22575196 Unknown (3;0)
Autosomal Recessive (16;182)
0.642 2019-09-04
Anne Murray
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
FACS naive CD4 T cells in CD4 T cells - decreased
G ⇒ T critical splice donor site probably null
17 UTSW Elmo1 0.000 Edinburg 13 20090596-20608353 bp (+) 20290383 Autosomal Recessive (4;26)
Autosomal Semidominant (4;27)
0.976 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ T nonsense probably null
18 UTSW Fnip1 0.684 hamel2 11 54438199-54518235 bp (+) 54502271 Autosomal Recessive (7;116) 0.706 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 - increased
FACS CD8+ T cells - increased
FACS T cells - increased
G ⇒ T missense probably damaging 1.000
19 UTSW Postn 0.000 sticklike 3 54361109-54391037 bp (+) 54372106 Autosomal Recessive (3;24) no linkage result 2019-09-04
Anne Murray
G ⇒ T missense probably damaging 1.000
20 UTSW Hcn2 0.000 curveball2 10 79716634-79736108 bp (+) 79733773 Autosomal Recessive (17;111) 0.970 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS T cells - increased
G ⇒ T nonsense probably null
21 UTSW Itgb2 0.360 barely 10 77530252-77565708 bp (+) 77548536 Unknown no linkage result 2019-09-04
Anne Murray
G ⇒ T splice site probably benign
22 UTSW Elmo1 0.000 Dollie 13 20090596-20608353 bp (+) 20572446 Autosomal Dominant (3;18)
Autosomal Semidominant (4;21)
0.869 2019-09-04
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
G ⇒ T missense possibly damaging 0.912
23 UTSW Ebf1 0.916 ebby 11 44617317-45008091 bp (+) 44883814 Autosomal Dominant (2;8)
Autosomal Recessive (14;134), Autosomal Semidominant (1;9)
0.945 2019-09-04
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ 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 CD8+ T cells in CD3+ T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - decreased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS naive CD4 T cells in CD4 T cells - increased
FACS T cells - increased
G ⇒ T missense probably damaging 1.000
24 UTSW Prkdc 0.953 anhimid 16 15637866-15842235 bp (+) 15725461 Autosomal Recessive (20;182) 0.883 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 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 - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
G ⇒ T critical splice donor site 1 bp probably null
25 UTSW Prkdc 0.953 screamer 16 15637866-15842235 bp (+) 15831282 Autosomal Recessive (24;276) 0.902 2019-07-17
Diantha La Vine
Body Weight - decreased
Body Weight (Z-score) - decreased
FACS B cells - decreased
FACS B1 cells - increased
FACS B1a cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ T nonsense probably null
26 UTSW Lmbr1l 0.000 strawberry 15 98903917-98918231 bp (-) 98909263 Autosomal Dominant (1;4)
Autosomal Recessive (24;220)
0.990 2019-05-14
Anne Murray
CD8 response - decreased
CTL killing - decreased
CTL killing dominant epitope - decreased
FACS B cells - increased
FACS B:T cells - increased
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B220 MFI - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - decreased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - increased
FACS IgM MFI - increased
FACS IgM+ B cells - increased
FACS macrophages - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - decreased
FACS NK1.1+ T cells - decreased
FACS T cells - decreased
MCMV susceptibility
NK cell response - decreased
NK killing - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE after 2nd OVA/Alum - decreased
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
G ⇒ T nonsense probably null
27 UTSW Tlr9 0.092 cpg7 9 106222598-106226883 bp (+) 106225349 Unknown (2;0) no linkage results 2019-04-01
Stephen Lyon
immune system
TLR signaling defect: TNF production by macrophages
G ⇒ T missense probably benign 0.002
28 UTSW
has photo
Lepr 0.000 odd 4 101717404-101815352 bp (+) 101728075 Unknown no linkage results 2019-03-30
Diantha La Vine
adipose tissue
behavior/neurological
Body Weight - increased
growth/size
homeostasis/metabolism
G ⇒ T splice site 5 bp probably benign
29 UTSW Rag1 0.502 maladaptive 2 101638282-101649501 bp (-) 101645647 Unknown (1;0) no linkage results 2019-03-21
Diantha La Vine
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
immune system
RVFV susceptibility
G ⇒ T intron probably benign
30 UTSW Gimap1 0.067 vonnegut 6 48739054-48743795 bp (+) 48743098 Autosomal Recessive (6;58) 0.171 2018-12-12
Anne Murray
FACS B220 MFI - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS IgD MFI - decreased
FACS IgM MFI - increased
G ⇒ T missense probably damaging 0.999
31 UTSW Cd3e 0.000 tumormouse 9 44998740-45009627 bp (-) 45006150 Unknown (1;0) no linkage results 2018-11-30
Diantha La Vine
hematopoietic system
immune system
G ⇒ T intron probably benign
32 UTSW Cdh23 0.568 dee_dee 10 60302748-60696490 bp (-) 60308056 Unknown no linkage result 2018-10-11
Diantha La Vine
G ⇒ T nonsense probably null
33 UTSW
has photo
Adamts20 0.169 panda 15 94270163-94465418 bp (-) 94326699 Unknown no linkage results 2018-10-05
Diantha La Vine
pigmentation
skin/coat/nails
G ⇒ T intron probably benign
34 UTSW
has photo
Slc45a2 0.107 zuckerkuss 15 11000721-11029233 bp (+) 11025935 Unknown no linkage results 2018-08-01
Diantha La Vine
pigmentation
skin/coat/nails
G ⇒ T critical splice donor site 1 bp probably benign
35 UTSW Scn8a 0.797 Tremord 15 100869858-101045938 bp (+) 101013504 Unknown no linkage results 2018-05-22
Anne Murray
behavior/neurological
G ⇒ T missense probably damaging 1.000
36 UTSW Edar 0.249 achtung2 10 58600789-58675654 bp (-) 58603163 Unknown no linkage results 2018-04-24
Diantha La Vine
craniofacial
limbs/digits/tail phenotype
skin/coat/nails
G ⇒ T missense probably damaging 1.000
37 UTSW
has photo
Ap3b1 0.572 bullet_gray 13 94358960-94566317 bp (+) 94451087 Unknown (2;0) no linkage results 2018-01-15
Diantha La Vine
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
G ⇒ T critical splice donor site 1 bp probably benign
38 UTSW Gimap5 0.000 sphinx 6 48746197-48754210 bp (+) 48752609 Unknown (2;0) no linkage results 2018-01-05
Eva Marie Y. Moresco
CTL killing - decreased
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
FACS NK cells - decreased
FACS NK1.1+ T cells - decreased
hematopoietic system
immune system
inflammatory bowel disease phenotype
lethality-postnatal
life span-post-weaning/aging
liver/biliary system
MCMV susceptibility
NK cell response - 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
G ⇒ T missense probably damaging 1.000
39 UTSW
has photo
Fgf5 0.153 porcupine 5 98254184-98277030 bp (+) 98254746 Unknown no linkage results 2017-10-13
Anne Murray
skin/coat/nails
G ⇒ T missense probably damaging 1.000
40 UTSW Muc2 0.093 Schlendrian 7 141690340-141754693 bp (+) 141695682 Unknown (1;0) no linkage results 2017-09-13
Diantha La Vine
immune system
G ⇒ T missense probably damaging 1.000
41 UTSW Tnf 0.000 Panr1 17 35199381-35202007 bp (-) 35200204 Unknown (1;0) no linkage results 2017-04-18
Katherine Timer
immune system
TLR signaling defect: TNF production by macrophages
G ⇒ T missense probably damaging 1.000
42 UTSW Unc13d 0.158 jinx 11 116062095-116077961 bp (-) 116073423 Unknown (1;0) no linkage results 2016-10-11
Bruce Beutler
DSS: sensitive day 7
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
G ⇒ T unclassified 57 bp probably benign
43 UTSW
has photo
Atp7a 0.712 Tigrou X 106027276-106124926 bp (+) 106088407 Unknown no linkage results 2016-05-13
Stephen Lyon
growth/size
lethality-embryonic/perinatal
lethality-postnatal
pigmentation
skin/coat/nails
G ⇒ T missense probably benign 0.041
44 APN Cd4 0.000 thoth 6 124864692-124888221 bp (-) 124873140 Unknown no linkage results 2016-05-13
Peter Jurek
FACS CD4+ T cells - decreased
immune system
G ⇒ T splice site 10 bp probably benign
45 UTSW Myo5a 0.957 silver_decerebrate 9 75071015-75223688 bp (+) 75164195 Unknown no linkage results 2016-05-13
Stephen Lyon
behavior/neurological
lethality-postnatal
life span-post-weaning/aging
nervous system
pigmentation
skin/coat/nails
G ⇒ T missense probably damaging 1.000
46 UTSW
has photo
Scd1 0.952 flake 19 44394451-44407709 bp (-) 44400330 Unknown no linkage results 2016-05-13
Stephen Lyon
endocrine/exocrine gland
immune system
skin/coat/nails
G ⇒ T missense probably damaging 0.998
47 UTSW
has photo
Ap3d1 0.937 christian 10 80706956-80742264 bp (-) 80730042 Autosomal Semidominant (1;0) failed initial filter 2016-05-13
Anne Murray
pigmentation
skin/coat/nails
G ⇒ T missense probably damaging 1.000
[records 1 to 47 of 47]