Phenotypic Mutations

86 mutations affecting 67 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 87 of 87] per page Full List
 



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Verification Probability

Phenotypic Category

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1 UTSW Ap3b1 0.395 bullet_gray 13 94358960-94566317 bp (+) 94451087 Unknown (2;0) no linkage results 2021-11-22
Diantha La Vine
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
G ⇒ T critical splice donor site 1 bp probably benign
2 UTSW Tcf12 1.000 Poorly3 9 71842688-72111871 bp (-) 72015636 Autosomal Recessive (2;17)
Autosomal Semidominant (15;83)
0.975 2021-04-23
External Program
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
A ⇒ G critical splice donor site 2 bp probably null
3 UTSW Ifngr1 0.000 Marigold 10 19591949-19610229 bp (+) 19601485 Unknown (1;0)
Autosomal Dominant (3;12), Autosomal Recessive (2;14)
0.303 2020-07-29
External Program
FACS IgD+ B cell percentage - increased
FACS IgM+ B cells - increased
FACS macrophages - decreased
TLR signaling defect: hyposensitivity to poly I:C + IFNg
TLR signaling defect: TNF production by macrophages
T ⇒ C critical splice donor site probably null
4 UTSW Tmprss6 0.070 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
5 UTSW Inpp5d 0.911 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
6 UTSW Inpp5d 0.911 Orange 1 87620312-87720507 bp (+) 87697546 Autosomal Dominant (3;10)
Autosomal Semidominant (4;19)
0.917 2020-06-05
Thomas Gallagher
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
G ⇒ A critical splice donor site 1 bp probably null
7 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
8 UTSW Myo15 0.000 Typhoon 11 60469339-60528369 bp (+) 60487425 Autosomal Dominant (1;7)
Autosomal Recessive (1;5)
0.156 2019-10-23
Anne Murray
behavior/neurological
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
G ⇒ A critical splice donor site probably null
9 UTSW Rel 0.000 Horus 11 23736847-23770970 bp (-) 23753215 Autosomal Recessive (5;30)
Autosomal Semidominant (5;25)
0.956 2019-10-23
Diantha La Vine
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - 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-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
A ⇒ C critical splice donor site probably null
10 UTSW Kitl 0.322 Gregory 10 100015630-100100416 bp (+) 100076906 Unknown (1;0)
Autosomal Dominant (4;11)
failed initial filter 2019-10-23
Anne Murray
pigmentation
skin/coat/nails
G ⇒ A critical splice donor site probably null
11 UTSW Lyst 0.375 50-cal 13 13590397-13778803 bp (+) 13708212 Autosomal Recessive (6;68) 0.633 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
12 UTSW Hps5 0.140 Titan 7 46760466-46796064 bp (-) 46783469 Autosomal Dominant (2;19)
Autosomal Recessive (2;6)
0.240 2019-09-04
Diantha La Vine
dsDNA induced type I IFN production - increased
FACS CD11c+ DCs - decreased
FACS IgM MFI - decreased
impaired response to dsDNA- type I IFN production by macrophages
pigmentation
skin/coat/nails
A ⇒ G critical splice donor site 2 bp probably null
13 UTSW Dst 0.346 gobble 1 33908225-34308661 bp (+) 34165155 Autosomal Dominant (1;1)
Autosomal Recessive (6;23)
0.511 2019-09-04
Anne Murray
behavior/neurological
Body Weight - decreased
Body Weight (Z-score) - decreased
DSS: sensitive day 7
FACS B1a cells in B1 cells - increased
FACS CD11c+ DCs - increased
growth/size
TLR signaling defect: hypersensitivity to CpG + IFNg
T ⇒ C critical splice donor site 2 bp probably null
14 UTSW Ciita 0.124 sisal 16 10480059-10528418 bp (+) 10513288 Autosomal Recessive (9;49)
Autosomal Semidominant (1;4)
0.812 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 CD8+ T cells in CD3+ T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD8+ T cells in CD3+ 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
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
G ⇒ A critical splice donor site 1 bp probably null
15 UTSW Myo6 0.000 torticollis 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive (4;15) 0.185 2019-09-04
Anne Murray
behavior/neurological
dsDNA induced type I IFN production - increased
hearing/vestibular/ear
impaired response to dsDNA- type I IFN production by macrophages
G ⇒ A critical splice donor site 1 bp probably null
16 UTSW Diaph1 0.000 Guangzhou 18 37843601-37935476 bp (-) 37896093 Unknown (13;0)
Autosomal Dominant (1;5), Autosomal Semidominant (9;37)
0.979 2019-09-04
Diantha La Vine
FACS B:T cells - increased
FACS B1a cells in B1 cells - decreased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
MCMV susceptibility
OVA-specific IgE - decreased
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
post-MCMV FACS CD44+ CD4 MFI - decreased
post-MCMV FACS CD44+ CD4 MFI - increased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD44+ T MFI - increased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS central memory CD4 T cells in CD4 T cells - increased
post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS effector memory CD4 T cells in CD4 T cells - increased
post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
A ⇒ G critical splice donor site 2 bp probably null
17 UTSW Fcer2a 0.000 arum 8 3681737-3694175 bp (-) 3688796 Autosomal Recessive (4;25) 0.071 2019-09-04
Bruce Beutler
FACS CD11c+ DCs - increased
A ⇒ G critical splice donor site 2 bp probably null
18 UTSW Cd22 0.000 Yosemite 7 30865402-30880342 bp (-) 30869509 Unknown (1;0)
Autosomal Dominant (4;7), Autosomal Recessive (4;14), Autosomal Semidominant (6;17)
0.966 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B1a cells - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B2 cells - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM+ B cells - decreased
C ⇒ A critical splice donor site 1 bp probably null
19 UTSW Gk5 0.000 tangyuan 9 96119362-96184608 bp (+) 96150797 Autosomal Recessive (6;25) 0.961 2019-09-04
Anne Murray
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
skin/coat/nails
G ⇒ A critical splice donor site 1 bp probably null
20 UTSW Rims4 0.143 diminutive 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive (3;20) 0.770 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
growth/size
C ⇒ T critical splice donor site probably null
21 UTSW Prkdc 0.951 screamer2 16 15637866-15842235 bp (+) 15652552 Autosomal Recessive (6;56) 0.935 2019-09-04
Diantha La Vine
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - 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
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
T ⇒ C critical splice donor site probably null
22 UTSW Malt1 0.452 bryce_canyon 18 65430962-65478823 bp (+) 65462915 Autosomal Recessive (2;6)
Autosomal Semidominant (1;3)
0.174 2019-09-04
Anne Murray
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
T ⇒ C critical splice donor site 2 bp probably null
23 UTSW Gk5 0.000 barrener 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive (4;23)
Autosomal Semidominant (1;4)
0.682 2019-09-04
Anne Murray
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
skin/coat/nails
T ⇒ C critical splice donor site probably null
24 UTSW Ppp3cb 0.000 Copacabana 14 20499364-20546573 bp (-) 20530942 Autosomal Dominant (1;4)
Autosomal Recessive (4;21), Autosomal Semidominant (8;48)
0.936 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
A ⇒ G critical splice donor site 2 bp probably null
25 UTSW Trpa1 0.139 fear-2 1 14872648-14918862 bp (-) 14891303 Autosomal Recessive (1;11) no linkage result 2019-09-04
Anne Murray
A ⇒ G critical splice donor site 2 bp probably null
26 UTSW Tmprss6 0.070 cubone 15 78439667-78468634 bp (-) 78446657 Autosomal Recessive (1;8) 0.247 2019-09-04
Anne Murray
growth/size
skin/coat/nails
A ⇒ T splice site probably null
27 UTSW Dock8 0.077 snowdrop 19 24999529-25202432 bp (+) 25184941 Autosomal Recessive (8;34)
Autosomal Semidominant (1;4)
0.859 2019-09-04
Anne Murray
FACS B:T cells - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells - decreased
FACS macrophages - increased
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
G ⇒ A critical splice donor site probably null
28 UTSW Fa2h 0.315 sparse 8 111345135-111393824 bp (-) 111355398 Autosomal Recessive (1;4) 0.496 2019-09-04
Anne Murray
skin/coat/nails
A ⇒ G critical splice donor site probably null
29 UTSW Col6a2 0.000 piddling 10 76595762-76623630 bp (-) 76608106 Autosomal Recessive (3;19) 0.601 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
growth/size
C ⇒ T critical splice donor site probably null
30 UTSW Tyrp1 0.296 butter 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive (1;7) 0.451 2019-09-04
Katherine Timer
pigmentation
skin/coat/nails
T ⇒ A critical splice donor site probably null
31 UTSW Lepr 0.000 giant 4 101717404-101815352 bp (+) 101765152 Autosomal Recessive (13;96)
Autosomal Semidominant (1;3)
0.948 2019-09-04
Diantha La Vine
30 min GTT hyperglycemic
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
FACS macrophages - increased
growth/size
NK cell response - decreased
NK killing - decreased
OVA-specific IgE - increased
TLR signaling defect: hyposensitivity to CpG + IFNg
total IgE level - increased
G ⇒ A critical splice donor site probably null
32 UTSW Mlkl 0.082 mecro 8 111311797-111338177 bp (-) 111319716 Autosomal Recessive (2;18) 0.908 2019-09-04
Diantha La Vine
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
C ⇒ G critical splice donor site probably null
33 UTSW Itgb2 0.382 nibbler 10 77530252-77565708 bp (+) 77561216 Autosomal Recessive (25;179) 0.930 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 B1b cells - increased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
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+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - 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 - decreased
FACS NK1.1+ T cells - increased
NK cell response - decreased
NK killing - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - increased
G ⇒ A critical splice donor site probably null
34 UTSW Prkcq 0.000 celina2 2 11172108-11301222 bp (+) 11226986 Autosomal Recessive (1;4) 0.616 2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
G ⇒ A critical splice donor site probably null
35 UTSW Ighd 0.065 surface2 12 113406604-113416324 bp (-) 113416041 Autosomal Recessive (2;8)
Autosomal Semidominant (1;5)
0.529 2019-09-04
Anne Murray
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: TNF production by macrophages
A ⇒ G critical splice donor site probably benign
36 UTSW Dock2 0.000 denali 11 34226815-34783892 bp (-) 34229472 Autosomal Recessive (2;25)
Autosomal Semidominant (5;25)
0.906 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS NK cells - increased
total IgE level - increased
A ⇒ G critical splice donor site 2 bp probably null
37 UTSW Prkdc 0.951 screamer3 16 15637866-15842235 bp (+) 15740332 Autosomal Recessive (4;19) failed initial filter 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B1b cells - increased
FACS neutrophils - increased
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
T ⇒ C critical splice donor site 2 bp probably null
38 UTSW Stk4 0.000 hallon 2 164070322-164155524 bp (+) 164099827 Autosomal Recessive (28;318) 0.981 2019-09-04
Diantha La Vine
FACS B cells - increased
FACS B:T cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS B220 MFI - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgM+ B cells - increased
FACS macrophages - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - increased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
T ⇒ C critical splice donor site probably null
39 UTSW Mlh1 0.000 andalusia3 9 111228228-111271791 bp (-) 111229838 Autosomal Recessive (6;28) 0.887 2019-09-04
Anne Murray
FACS B:T cells - increased
FACS CD44+ CD8 MFI - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - decreased
A ⇒ G critical splice donor site probably null
40 UTSW Cd40 0.000 noelle 2 165055627-165072948 bp (+) 165063563 Autosomal Recessive (3;35) 0.851 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
total IgE level - decreased
T ⇒ C critical splice donor site probably null
41 UTSW Nfkb1 0.000 Roomba 3 135584655-135691547 bp (-) 135612412 Autosomal Recessive (1;4)
Autosomal Semidominant (4;22)
0.964 2019-09-04
Diantha La Vine
DSS: sensitive day 10
FACS central memory CD8 T cells in CD8 T cells - 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
A ⇒ T critical splice donor site probably null
42 UTSW Trpc1 0.122 luxus 9 95705082-95750375 bp (-) 95721132 Autosomal Recessive (5;18)
Autosomal Semidominant (1;4)
0.425 2019-09-04
Diantha La Vine
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (Male) - increased
FACS B cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
C ⇒ T critical splice donor site probably null
43 UTSW Tbx21 0.245 plateau 11 97098071-97115331 bp (-) 97101478 Autosomal Dominant (1;6)
Autosomal Recessive (2;11)
0.380 2019-09-04
Anne Murray
FACS CD8+ T cells in CD3+ T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgM MFI - increased
C ⇒ T critical splice donor site probably null
44 UTSW Bbs9 0.803 corpulent 9 22475715-22888280 bp (+) 22575196 Unknown (3;0)
Autosomal Recessive (14;153)
0.532 2019-09-04
Anne Murray
Body Weight - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Bone: Pelvis Length (AI, residual) - decreased
Bone: Tibia Length (AI, residual) - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
G ⇒ T critical splice donor site probably null
45 UTSW Diaph1 0.000 sheer 18 37843601-37935476 bp (-) 37896093 Autosomal Recessive (2;8)
Autosomal Semidominant (1;6)
0.866 2019-09-04
Diantha La Vine
FACS B:T cells - increased
FACS B1a cells in B1 cells - decreased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
MCMV susceptibility
A ⇒ T critical splice donor site probably benign
46 UTSW Ptprc 0.000 fuchsia 1 138062861-138175708 bp (-) 138101041 Autosomal Recessive (17;235)
Autosomal Semidominant (1;17)
0.959 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
C ⇒ T critical splice donor site probably null
47 UTSW Eml1 0.245 bubble 12 108370957-108539617 bp (+) 108513071 Autosomal Recessive (1;8) failed initial filter 2019-09-04
Anne Murray
craniofacial
nervous system
G ⇒ A critical splice donor site probably null
48 UTSW Il4ra 0.078 Haile 7 125552120-125579474 bp (+) 125574717 Autosomal Dominant (1;4) 0.212 2019-09-04
Anne Murray
total IgE level - decreased
G ⇒ A critical splice donor site 1 bp probably null
49 UTSW Tg 0.123 samarai 15 66670753-66850721 bp (+) 66758006 Autosomal Recessive (15;67) 0.933 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Z-score) - decreased
FACS B1a cells - increased
FACS B2 cells - decreased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
total IgE level - increased
G ⇒ A critical splice donor site 1 bp probably null
50 UTSW Ptprc 0.000 chor_muang 1 138062861-138175708 bp (-) 138113562 Autosomal Recessive (5;82)
Autosomal Semidominant (9;66)
0.950 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - 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 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 NK cells - decreased
A ⇒ T critical splice donor site 2 bp probably null
51 UTSW Prkdc 0.951 anhimid 16 15637866-15842235 bp (+) 15725461 Autosomal Recessive (21;186) 0.909 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 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
52 UTSW Prkdc 0.951 crackle 16 15637866-15842235 bp (+) 15786050 Autosomal Recessive (22;331) 0.926 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - increased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
FACS T cells - decreased
T ⇒ C critical splice donor site 2 bp probably null
53 UTSW Dock8 0.077 warts_and_all 19 24999529-25202432 bp (+) 25169501 Autosomal Recessive (15;109)
Autosomal Semidominant (1;4)
0.766 2019-09-04
Diantha La Vine
FACS B:T cells - increased
FACS B1 cells - decreased
FACS B220 MFI - decreased
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 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
T ⇒ C critical splice donor site 2 bp probably null
54 UTSW Ptprc 0.000 Gentian 1 138062861-138175708 bp (-) 138067885 Autosomal Dominant (4;31)
Autosomal Semidominant (2;8)
0.858 2019-09-04
Diantha La Vine
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD44+ CD8 MFI - increased
FACS naive CD8 T cells in CD8 T cells - decreased
C ⇒ T critical splice donor site 1 bp probably null
55 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
56 UTSW Nfkb2 0.615 lolita 19 46304737-46312090 bp (+) 46307720 Autosomal Recessive (15;213)
Autosomal Semidominant (1;14)
0.955 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD8 MFI - decreased
FACS CD44+ T MFI - decreased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ 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 NK cells - decreased
FACS T cells - increased
T ⇒ C critical splice donor site 2 bp probably null
57 UTSW Ltbr 0.175 kama 6 125306571-125313885 bp (-) 125313388 Autosomal Recessive (1;13) 0.633 2019-08-13
Diantha La Vine
T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ C critical splice donor site 2 bp probably null
58 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
59 UTSW Prkdc 0.951 clover 16 15637866-15842235 bp (+) 15702157 Unknown no linkage results 2019-07-17
Diantha La Vine
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 ⇒ C splice site 2 bp probably benign
60 UTSW Hps5 0.140 toffee 7 46760466-46796064 bp (-) 46777075 Unknown (1;0) no linkage results 2019-06-25
Diantha La Vine
DSS: sensitive day 7
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
vision/eye
A ⇒ G intron 2 bp probably benign
61 APN Dock8 0.077 captain_morgan 19 24999529-25202432 bp (+) 25127711 Unknown no linkage results 2019-05-26
Diantha La Vine
FACS B cells - decreased
FACS CD4+ T cells - decreased
FACS CD8+ T cells - decreased
immune system
T ⇒ C critical splice donor site 2 bp probably benign
62 UTSW Dock2 0.000 frazz 11 34226815-34783892 bp (-) 34248572 Unknown (2;0) no linkage results 2019-05-21
Diantha La Vine
FACS B cells - decreased
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ T critical splice donor site 2 bp probably benign
63 UTSW Atcay 0.124 wobbley 10 81204508-81230833 bp (-) 81220573 Unknown no linkage results 2019-04-18
Anne Murray
behavior/neurological
A ⇒ T intron 2 bp probably benign
64 UTSW Fnip1 0.667 hamel 11 54438199-54518235 bp (+) 54480685 Unknown no linkage results 2019-02-07
Diantha La Vine
hematopoietic competition - disadvantage
hematopoietic system
homeostasis/metabolism
muscle
G ⇒ A critical splice donor site 1 bp probably benign
65 UTSW Tnip1 0.000 trinity 11 54910785-54962917 bp (-) 54939596 Autosomal Recessive (12;102)
Autosomal Semidominant (4;17)
0.823 2018-10-02
External Program
FACS B1 cells - increased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgM MFI - decreased
FACS NK cells - decreased
OVA-specific IgE - increased
A ⇒ G critical splice donor site probably null
66 UTSW Ern2 0.095 ernie 7 122169893-122186207 bp (-) 122171661 Autosomal Recessive (2;19) 0.827 2018-08-21
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
A ⇒ T critical splice donor site 2 bp probably null
67 UTSW Kitl 0.322 mooyah 10 100015630-100100416 bp (+) 100088222 Autosomal Recessive (1;4) failed initial filter 2018-08-06
Anne Murray
pigmentation
skin/coat/nails
T ⇒ C critical splice donor site probably null
68 UTSW Lyst 0.375 souris 13 13590397-13778803 bp (+) 13683224 Unknown (1;0) no linkage results 2018-08-02
Diantha La Vine
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
pigmentation
skin/coat/nails
T ⇒ A unclassified 2 bp probably benign
69 UTSW Slc45a2 0.105 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
70 UTSW Epha4 0.943 frog 1 77367185-77515088 bp (-) 77481076 Unknown no linkage results 2018-05-22
Anne Murray
behavior/neurological
A ⇒ G intron 2 bp probably benign
71 UTSW Agtpbp1 0.761 drunk 13 59445742-59585227 bp (-) 59512323 Unknown no linkage results 2018-05-22
Anne Murray
behavior/neurological
A ⇒ T critical splice donor site 2 bp probably benign
72 UTSW Malt1 0.452 mousebird 18 65430962-65478823 bp (+) 65475260 Autosomal Recessive (4;18)
Autosomal Semidominant (1;6)
0.674 2018-04-18
Diantha La Vine
post-MCMV FACS B1b cells - increased
post-MCMV FACS CD11b+ DCs (gated in CD11c+ 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
T ⇒ A critical splice donor site 2 bp probably null
73 UTSW Hr 0.000 mister_clean 14 70552212-70573548 bp (+) 70560064 Unknown no linkage results 2018-03-02
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
skin/coat/nails
G ⇒ A critical splice donor site 1 bp probably benign
74 UTSW Col1a1 1.000 seal 11 94936224-94953042 bp (+) 94947184 Unknown no linkage results 2017-05-02
Katherine Timer
behavior/neurological
skeleton phenotype
T ⇒ A splice site 2 bp probably benign
75 UTSW Nfkbid 0.083 bumble 7 30421732-30428746 bp (+) 30425411 Unknown (2;0) no linkage results 2017-03-28
Katherine Timer
FACS B 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
T ⇒ G critical splice donor site 2 bp probably benign
76 UTSW Myo15 0.000 parker 11 60469339-60528369 bp (+) 60520914 Unknown no linkage result 2017-03-02
Katherine Timer
T ⇒ C critical splice donor site 2 bp probably null
77 UTSW Ticam1 0.000 Pangu 17 56269319-56276786 bp (-) 56276693 Unknown (2;0) no linkage results 2016-10-13
Anne Murray
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
G ⇒ A critical splice donor site probably benign
78 UTSW Ruvbl2 1.000 Worker 7 45421760-45438096 bp (-) 45431318 Unknown (2;0) no linkage results 2016-05-13
Stephen Lyon
FACS CD4+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ T critical splice donor site 2 bp probably benign
79 UTSW Pax3 0.809 Widget 1 78101267-78197134 bp (-) 78122590 Unknown (1;0) no linkage results 2016-05-13
Peter Jurek
pigmentation
skin/coat/nails
C ⇒ T critical splice donor site 1 bp probably null
80 UTSW Flt3 0.000 warmflash 5 147330741-147400489 bp (-) 147366918 Unknown (1;0) no linkage results 2016-05-13
Anne Murray
FACS CD4:CD8 - increased
growth/size
hematopoietic system
immune system
MCMV susceptibility
NK cell response - decreased
C ⇒ T critical splice donor site 1 bp probably null
81 UTSW Tgm3 0.000 tortellini 2 130012349-130050399 bp (+) 130024585 Unknown (1;0) no linkage results 2016-05-13
Stephen Lyon
immune system
RVFV susceptibility
skin/coat/nails
G ⇒ A critical splice donor site 1 bp probably benign
82 UTSW Tfr2 0.000 iron-man 5 137569840-137587481 bp (+) 137583153 Unknown no linkage results 2016-05-13
Stephen Lyon
homeostasis/metabolism
iron excess
T ⇒ C splice site 2 bp probably benign
83 UTSW Slc15a4 0.073 feeble 5 127595664-127632897 bp (-) 127608770 Unknown (1;0) no linkage results 2016-05-13
Anne Murray
response to injected CpG DNA - decreased
A ⇒ T unclassified 2 bp probably benign
84 UTSW Frem1 0.787 bat 4 82897920-83052339 bp (-) 82983060 Unknown no linkage results 2016-05-13
Stephen Lyon
limbs/digits/tail phenotype
renal/urinary system
skin/coat/nails
vision/eye
A ⇒ G intron 1 bp probably benign
85 UTSW Col4a4 0.083 aoba 1 82448423-82586849 bp (-) 82535740 Unknown (1;0) no linkage results 2016-05-13
Stephen Lyon
digestive/alimentary
hearing/vestibular/ear
renal/urinary system
C ⇒ T critical splice donor site 1 bp probably benign
86 APN Atp11c 0.252 ambrosius X 60223290-60592698 bp (-) 36608577 Unknown no linkage results 2016-05-13
Stephen Lyon
anemia
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
C ⇒ T unclassified 1 bp probably benign
87 APN Atp11c 0.252 18nih30a X 60223290-60592698 bp (-) 36608577 Unknown no linkage results 2016-05-13
Stephen Lyon
anemia
FACS B cells - decreased
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
A ⇒ C unclassified 2 bp probably benign
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