Phenotypic Mutations

39 mutations affecting 36 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 39 of 39] per page Full List
 
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1 UTSW Ptprc 0.314 1 138062861-138175708 bp (-) 138113678 Autosomal Dominant (1;14)
 Autosomal Recessive (17;118)

 Autosomal Semidominant (2;12)
excellent candidate 2019-05-25
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory 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 ⇒ A nonsense probably null
2 UTSW Atm 0.816 9 53439149-53536740 bp (-) 53516467 Autosomal Recessive (9;63) excellent candidate 2019-05-25
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - 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
C ⇒ A nonsense probably null
3 UTSW Pappa 0.816 4 65124174-65357509 bp (+) 65124891 Autosomal Recessive (23;201) excellent candidate 2019-05-22
Diantha La Vine
 Body Weight - decreased
 Body Weight (BP Male) - decreased
 Body Weight (BP) - decreased
 Body Weight (Male) - decreased
 Motor: Rotarod Weight - decreased
C ⇒ A missense probably damaging 0.978
4 UTSW Scyl1 0.882 19 5758427-5771401 bp (-) 5760826 Autosomal Recessive (13;80) excellent candidate 2019-05-16
Anne Murray
 behavior/neurological
 Body Weight (BP Female) - decreased
 Body Weight (BP Male) - decreased
 Body Weight (BP) - decreased
 Body Weight (DSS Female) - decreased
 Body Weight (DSS Male) - decreased
 Body Weight (DSS) - decreased
 FACS B1b cells - decreased
 FACS B2 cells - increased
 Motor: Rotarod Weight - decreased
C ⇒ A missense probably damaging 0.999
5 UTSW Lepr 0.000 4 101717404-101815352 bp (+) 101815201 Autosomal Recessive (12;82)
 Autosomal Semidominant (3;20)
excellent candidate 2019-05-13
Anne Murray
 Body Weight (BP Female) - increased
 Body Weight (BP Male) - increased
 Body Weight (BP) - increased
 Body Weight (DSS Female) - increased
 Body Weight (DSS Male) - increased
 Body Weight (DSS) - increased
 Motor: Rotarod Weight - increased
C ⇒ A missense probably damaging 1.000
6 UTSW
has photo
Slc45a2 0.162 15 11000721-11029233 bp (+) 11022172 Unknown no linkage results 2019-04-23
Diantha La Vine
 pigmentation
 skin/coat/nails
C ⇒ A synonymous probably benign
7 UTSW Nckap1l 0.639 15 103453794-103498810 bp (+) 103471232 Autosomal Recessive (23;236) excellent candidate 2019-04-17
Diantha La Vine
 Blood Pressure: SBP Average - decreased
 Body Weight - decreased
 Body Weight (BP Male) - decreased
 Body Weight (BP) - decreased
 Body Weight (Male) - decreased
 FACS B cells - decreased
 FACS B:T 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+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - decreased
 FACS T cells - decreased
 Motor: Rotarod Weight - decreased
C ⇒ A nonsense probably null
8 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15752829 Autosomal Recessive (24;363) excellent candidate 2019-04-17
Diantha La Vine
 Body Weight - decreased
 Body Weight (Male) - decreased
 FACS B cells - decreased
 FACS B:T cells - increased
 FACS B1 cells - decreased
 FACS B220 MFI - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T cells - decreased
 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 naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 FACS NK T cells - decreased
 FACS T cells - decreased
C ⇒ A nonsense probably null
9 UTSW Kcna2 1.000 3 107101146-107115005 bp (+) 107105027 Autosomal Recessive (1;4) failed initial filter 2019-04-02
Anne Murray
 lethality-postnatal
C ⇒ A missense probably damaging 1.000
10 UTSW
has photo
Lepr 0.000 4 101717404-101815352 bp (+) 101792023 Autosomal Recessive (49;584)
 Autosomal Semidominant (3;12)
excellent candidate 2019-03-30
Diantha La Vine
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 3 - decreased
 Blood Pressure: SBP Average - decreased
 Blood Pressure: SBP Day 1 - decreased
 Blood Pressure: SBP Day 3 - decreased
 Body Weight - increased
 Body Weight (BP Female) - increased
 Body Weight (BP Male) - increased
 Body Weight (BP) - increased
 Body Weight (Female) - increased
 Body Weight (Male) - 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
 growth/size
C ⇒ A missense probably damaging 1.000
11 UTSW Rel 0.000 11 23736847-23770970 bp (-) 23757026 Unknown (2;0)
 Autosomal Dominant (1;10)

 Autosomal Recessive (2;21)


 Autosomal Semidominant (7;50)
excellent candidate 2019-03-13
Bruce Beutler
 FACS B1 cells - decreased
 FACS CD4+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS T cells - increased
 IgE response to a Cysteine Protease (Papain) - decreased
 IgG1 response to a Cysteine Protease (Papain) - decreased
 ratio of OVA-specific IgE over the total IgE - 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
 total IgE level - decreased
C ⇒ A nonsense probably null
12 UTSW Cd79b 0.037 11 106311341-106314762 bp (-) 106312441 Autosomal Recessive (11;178)
 Autosomal Semidominant (2;28)
excellent candidate 2019-02-27
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
13 UTSW Inpp5d 0.896 1 87620312-87720507 bp (+) 87715142 Autosomal Recessive (3;41) excellent candidate (Recruited) 2019-02-14
Anne Murray
 dsDNA induced type I IFN production - increased
 impaired response to dsDNA- type I IFN production by macrophages
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
C ⇒ A missense probably damaging 0.998
14 UTSW Tap2 0.109 17 34203527-34216321 bp (+) 34215940 Autosomal Recessive (1;7)
 Autosomal Semidominant (1;5)
not good candidate (Recruited) 2019-02-14
Anne Murray
 FACS CD4+ T cells - increased
C ⇒ A missense possibly damaging 0.638
15 UTSW Trp53bp1 0.000 2 121193281-121271407 bp (-) 121251868 Autosomal Recessive (4;18) excellent candidate 2019-02-12
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS IgD MFI - decreased
 FACS T cells - decreased
C ⇒ A missense probably null 0.125
16 UTSW Tap2 0.109 17 34203527-34216321 bp (+) 34214032 Autosomal Recessive (16;242)
 Autosomal Semidominant (1;4)
excellent candidate 2019-02-12
Diantha La Vine
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 FACS B1a cells in B1 cells - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 MFI - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - decreased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - decreased
 FACS naive CD4 T cells in CD4 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 NK cell response - decreased
 NK killing - decreased
C ⇒ A nonsense probably null
17 UTSW Siglecg 0.091 7 43408204-43418358 bp (+) 43412017 Autosomal Recessive (1;13)
 Autosomal Semidominant (3;12)
potential candidate 2019-02-11
Diantha La Vine
 FACS B1 cells - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
C ⇒ A missense possibly damaging 0.819
18 UTSW Diaph1 0.000 18 37843601-37935476 bp (-) 37897550 Autosomal Recessive (15;167) excellent candidate 2019-02-01
Anne Murray
 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
 IgA response to 2nd OVA/Alum Challenge (day 7) - increased
 MCMV susceptibility
C ⇒ A nonsense probably null
19 UTSW Pappa2 0.000 1 158711727-158980490 bp (-) 158716990 Autosomal Semidominant (2;11) good candidate 2019-01-29
Diantha La Vine
 Body Weight - decreased
 Body Weight (Male) - decreased
 growth/size
C ⇒ A missense probably damaging 1.000
20 UTSW
has photo
Sema4c 1.000 1 36548639-36558349 bp (-) 36550311 Autosomal Recessive (1;3) failed initial filter 2018-12-05
Anne Murray
 pigmentation
 skin/coat/nails
C ⇒ A missense probably damaging 1.000
21 UTSW
has photo
Adamts20 0.233 15 94270163-94465418 bp (-) 94347810 Autosomal Recessive (1;6) not good candidate 2018-10-10
Anne Murray
 pigmentation
 skin/coat/nails
C ⇒ A missense probably damaging 1.000
22 UTSW
has photo
Adamts20 0.233 15 94270163-94465418 bp (-) 94347670 Autosomal Recessive (1;7) excellent candidate 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
C ⇒ A nonsense probably null
23 UTSW Cd44 0.315 2 102811141-102901665 bp (-) 102865370 Autosomal Dominant (2;30)
 Autosomal Semidominant (6;58)
good candidate 2018-09-18
Anne Murray
 FACS CD44+ CD4 MFI - decreased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - decreased
 FACS CD44+ CD8 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD44+ T MFI - decreased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS effector memory CD4 T cells in CD4 T cells - decreased
C ⇒ A missense probably damaging 0.988
24 UTSW
has photo
Tshr 0.272 12 91384563-91549808 bp (+) 91538226 Unknown (1;0)
 Autosomal Recessive (2;10)
excellent candidate 2018-08-23
Bruce Beutler
 125-03 Response - increased
 Body Weight - decreased
 endocrine/exocrine gland
 growth/size
C ⇒ A nonsense probably null
25 UTSW Ikzf1 0.000 11 11685003-11772926 bp (+) 11748464 Autosomal Recessive (6;95)
 Autosomal Semidominant (6;65)
excellent candidate 2018-08-23
Diantha La Vine
 Blood Pressure: HR Average - decreased
 Blood Pressure: HR Day 2 - decreased
 Blood Pressure: HR Day 3 - decreased
 FACS B cells - 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
 FACS central memory CD4 T cells in CD4 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
C ⇒ A nonsense probably null
26 UTSW
has video
Syt2 0.295 1 134646677-134762593 bp (+) 134747620 Autosomal Recessive (1;3)
 Autosomal Semidominant (1;1)
failed initial filter 2018-05-22
Anne Murray
 behavior/neurological
 Body Weight - decreased
 growth/size
 lethality-postnatal
 nervous system
C ⇒ A missense probably damaging 0.998
27 UTSW
has photo
Spag9 0.607 11 93996091-94126085 bp (+) 94093624 Unknown no linkage results 2018-04-26
Anne Murray
 pigmentation
 skin/coat/nails
C ⇒ A nonsense probably null
28 UTSW Stat1 0.000 1 52119440-52161865 bp (+) 52153923 Autosomal Recessive (2;16) excellent candidate 2018-03-29
Diantha La Vine
 fasting hyperglycemia (female)
 NK cell response - decreased
 NK killing - decreased
C ⇒ A nonsense probably null
29 UTSW Hcfc2 0.200 10 82696160-82742428 bp (+) 82739245 Unknown failed initial filter 2017-10-05
Anne Murray
 TLR signaling defect: TNF production by macrophages
C ⇒ A missense probably damaging 1.000
30 UTSW Cd22 0.000 7 30865402-30880342 bp (-) 30869509 Unknown (1;0)
 Autosomal Dominant (5;11)

 Autosomal Recessive (4;14)


 Autosomal Semidominant (6;17)
excellent candidate 2017-08-03
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 CD8a+ DCs (gated in CD11c+ 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
31 UTSW Myd88 0.000 9 119335934-119341411 bp (-) 119337823 Autosomal Semidominant (4;17) excellent candidate 2017-06-14
Katherine Timer
 hyposensitivity to TLR CpGODN + IFNg
 TLR signaling defect: hyposensitivity to CpG
 TLR signaling defect: hyposensitivity to CpG + IFNg
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
C ⇒ A missense possibly damaging 0.693
32 UTSW Socs2 0.131 10 95385362-95417180 bp (-) 95413081 Autosomal Recessive (3;15)
 Autosomal Semidominant (1;5)
excellent candidate 2017-06-05
Bruce Beutler
 Body Weight - increased
 Body Weight (DSS Male) - increased
 Body Weight (DSS) - increased
 Body Weight (Male) - increased
 growth/size
C ⇒ A nonsense probably null
33 UTSW Itgax 0.076 7 128129547-128150657 bp (+) 128148572 Autosomal Recessive (1;7)
 Autosomal Semidominant (2;20)
excellent candidate 2017-05-17
Katherine Timer
 FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
 FACS CD11c+ DCs - decreased
 FACS pDCs - increased
C ⇒ A nonsense probably null
34 UTSW
has photo
Tyr 0.373 7 87424771-87493512 bp (-) 87492706 Autosomal Recessive (1;3) failed initial filter 2016-12-08
Anne Murray
 pigmentation
 skin/coat/nails
C ⇒ A missense probably damaging 1.000
35 UTSW Ern2 0.103 7 122169893-122186207 bp (-) 122173819 Autosomal Recessive (2;6) failed initial filter 2016-11-10
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
C ⇒ A critical splice acceptor site 1 bp probably null
36 UTSW Prf1 0.000 10 61297833-61304680 bp (+) 61303722 Autosomal Recessive (1;5) not good candidate 2016-05-13
Anne Murray
 MCMV susceptibility
C ⇒ A nonsense probably null
37 UTSW Lep 0.000 6 29060220-29073877 bp (+) 29069090 Autosomal Recessive (1;4) excellent candidate 2016-05-13
Anne Murray
 Body Weight - increased
 Body Weight (DSS) - increased
 growth/size
C ⇒ A missense possibly damaging 0.952
38 UTSW
has photo
Msx2 0.000 13 53466884-53473074 bp (-) 53468395 Autosomal Recessive (1;3) failed initial filter 2016-05-13
Anne Murray
 skin/coat/nails
 vision/eye
C ⇒ A missense probably damaging 1.000
39 UTSW
has video
Tomt 7 101898370-101906359 bp (-) 101902129 Unknown no linkage results 2016-05-13
Stephen Lyon
 behavior/neurological
 hearing/vestibular/ear
 nervous system
C ⇒ A missense probably damaging 0.999
[records 1 to 39 of 39]