Phenotypic Mutations

12 mutations affecting 12 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 12 of 12] per page Full List
 




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Verification Probability

Phenotypic Category

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1 UTSW Jak3 0.721 thistle 8 71676296-71690575 bp (+) 71685383 Unknown (2;0)
Autosomal Recessive (31;312), Autosomal Semidominant (1;4)
0.971 2020-01-15
Eva Marie Y. Moresco
Body Weight (DSS Female) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS CD8a+ DCs (gated in CD11c+ 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 CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - decreased
FACS NK1.1+ T cells - decreased
FACS T cells - decreased
IgE response to a Cysteine Protease (Papain) - decreased
IgG1 response to a Cysteine Protease (Papain) - decreased
impaired response to dsDNA- type I IFN production by macrophages
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 ⇒ T critical splice acceptor site probably null
2 UTSW
has photo
Rc3h1 0.353 curlyfry 1 160906418-160974978 bp (+) 160959399 Unknown (1;0)
Autosomal Recessive (4;23), Autosomal Semidominant (1;5)
0.647 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
growth/size
limbs/digits/tail phenotype
A ⇒ G critical splice acceptor site probably null
3 UTSW Ern2 0.100 ernie3 7 122169893-122186207 bp (-) 122173819 Autosomal Recessive (2;6) failed initial filter 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
C ⇒ A critical splice acceptor site 1 bp probably null
4 UTSW Dock2 0.000 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive (8;53) 0.934 2019-09-04
Diantha La Vine
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
OVA-specific IgE - increased
resistance to B10-F16 melanoma - decreased
total IgE level - increased
T ⇒ G critical splice acceptor site probably null
5 UTSW Tcf7l2 1.000 banned 19 55741810-55933654 bp (+) 55931432 Autosomal Recessive (2;10) 0.595 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
A ⇒ G critical splice acceptor site probably null
6 UTSW Cd79b 0.064 hallasan 11 106311341-106314762 bp (-) 106312441 Autosomal Recessive (11;178)
Autosomal Semidominant (1;23)
0.902 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+ 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 effector memory CD4 T cells in CD4 T cells - decreased
FACS NK cells - decreased
FACS T cells - increased
C ⇒ A critical splice acceptor site probably null
7 UTSW Trpc1 0.151 Enlarged 9 95705082-95750375 bp (-) 95721471 Autosomal Semidominant (1;5) 0.622 2019-09-04
Anne Murray
Body Weight (Female) - increased
T ⇒ C critical splice acceptor site probably null
8 UTSW Itgb2 0.330 joker 10 77530252-77565708 bp (+) 77549849 Unknown (2;0) no linkage results 2019-02-01
Diantha La Vine
hematopoietic system
immune system
NK cell response - decreased
A ⇒ T intron 2 bp probably benign
9 UTSW
has video
Agtpbp1 0.749 rio 13 59445742-59585227 bp (-) 59525241 Unknown no linkage results 2018-05-22
Anne Murray
behavior/neurological
growth/size
T ⇒ C critical splice acceptor site 2 bp probably benign
10 UTSW
has photo
Tmprss6 0.070 mask 15 78439667-78468634 bp (-) 78464455 Unknown no linkage results 2018-03-06
Diantha La Vine
embryogenesis
growth/size
hematopoietic system
homeostasis/metabolism
iron deficiency
reproductive system
skin/coat/nails
T ⇒ C intron 2 bp probably benign
11 UTSW Tirap 0.210 torpid 9 35184551-35200291 bp (-) 35198707 Unknown (1;0) no linkage results 2017-03-23
Katherine Timer
immune system
TLR signaling defect: TNF production by macrophages
T ⇒ A intron 2 bp probably benign
12 UTSW Chrne 0.091 pip-squeak 11 70614883-70619216 bp (-) 70615130 Autosomal Recessive (9;71) 0.652 2016-05-13
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
growth/size
impaired response to dsDNA- type I IFN production by macrophages
MTT Value of PECs - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
T ⇒ A critical splice acceptor site 2 bp probably null
[records 1 to 12 of 12]