Phenotypic Mutations

30 mutations affecting 29 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 30 of 30] per page Full List Export
 
Source question?
Photo question?
Gene question?
E Score question?
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Allele question?
Chr question?
Chr Loc question?
 
Coordinate
Mode of Inheritance question?
Updated question?
Phenotypic Category question?

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1 UTSW
has photo
Sema4c 1.000 swirl 1 36548639-36558349 bp (-) 36550311 Autosomal Recessive (1;3) 2018-12-05
Anne Murray
 pigmentation
 skin/coat/nails
2 UTSW Cd79b 0.030 hallasan 11 106311341-106314762 bp (-) 106312441 Autosomal Recessive (11;178)
 Autosomal Semidominant (1;23)
2018-10-25
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
3 UTSW
has photo
Adamts20 0.239 whopper 15 94270163-94465418 bp (-) 94347810 Autosomal Recessive (1;6) 2018-10-10
Anne Murray
 pigmentation
 skin/coat/nails
4 UTSW Ptprc 0.256 jirisan 1 138062861-138175708 bp (-) 138113678 Autosomal Dominant (1;11)
 Autosomal Recessive (21;279)

 Autosomal Semidominant (1;8)
2018-10-05
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 CD4+ T cells in CD3+ T cells - increased
 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 NK T cells - decreased
 FACS T cells - decreased
5 UTSW
has photo
Adamts20 0.239 wash 15 94270163-94465418 bp (-) 94347670 Autosomal Recessive (1;7) 2018-10-05
Diantha La Vine
 pigmentation
 skin/coat/nails
6 UTSW Diaph1 0.000 damselfly 18 37843601-37935476 bp (-) 37897550 Autosomal Recessive (15;167) 2018-09-24
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
7 UTSW Cd44 0.344 Jialin 2 102811141-102901665 bp (-) 102865370 Autosomal Dominant (2;30)
 Autosomal Semidominant (7;62)
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 CD4 T cells in CD4 T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS effector memory CD4 T cells in CD4 T cells - decreased
8 UTSW Atm 0.823 mockingbird 9 53439149-53536740 bp (-) 53516467 Autosomal Recessive (9;63) 2018-08-27
Anne Murray
 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
9 UTSW
has photo
Tshr 0.240 freckle 12 91384563-91549808 bp (+) 91538226 Unknown (1;0)
 Autosomal Recessive (1;5)
2018-08-23
Bruce Beutler
 Body Weight - decreased
 endocrine/exocrine gland
 growth/size
10 UTSW Ikzf1 0.833 waxwing 11 11685003-11772926 bp (+) 11748464 Autosomal Dominant (1;4)
 Autosomal Recessive (10;117)

 Autosomal Semidominant (6;65)
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 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 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 central memory CD8 T cells in CD8 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 naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
11 UTSW
has photo
Slc45a2 0.154 cardigan 15 11000721-11029233 bp (+) 11022172 Unknown 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
12 UTSW Siglecg 0.087 shenandoah2 7 43408204-43418358 bp (+) 43412017 Autosomal Recessive (1;13)
 Autosomal Semidominant (3;12)
2018-07-30
Anne Murray
 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
13 UTSW
has video
Syt2 0.303 kringle 1 134646677-134762593 bp (+) 134747620 Autosomal Recessive (1;3)
 Autosomal Semidominant (1;1)
2018-05-22
Anne Murray
 behavior/neurological
 Body Weight - decreased
 growth/size
 lethality-postnatal
 nervous system
14 UTSW
has photo
Spag9 0.567 dazzle 11 93996091-94126085 bp (+) 94093624 Unknown 2018-04-26
Anne Murray
 pigmentation
 skin/coat/nails
15 UTSW Stat1 0.000 rollo 1 52119440-52161865 bp (+) 52153923 Autosomal Recessive (4;26) 2018-03-29
Diantha La Vine
 fasting hyperglycemia (female)
 NK cell response - decreased
 NK killing - decreased
16 UTSW Prkdc 0.976 liming 16 15637866-15842235 bp (+) 15752829 Autosomal Recessive (23;359) 2018-03-28
Anne Murray
 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+ 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
17 UTSW Trp53bp1 0.000 lentil 2 121193281-121271407 bp (-) 121251868 Autosomal Recessive (4;18) 2018-03-08
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
18 UTSW Tap2 0.101 date2 17 34203527-34216321 bp (+) 34214032 Autosomal Recessive (16;242)
 Autosomal Semidominant (1;4)
2018-01-31
Anne Murray
 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
19 UTSW Hcfc2 0.220 Minions 10 82696160-82742428 bp (+) 82739245 Unknown 2017-10-05
Anne Murray
 TLR signaling defect: TNF production by macrophages
20 UTSW Pappa2 0.000 Lilliputian 1 158711727-158980490 bp (-) 158716990 Autosomal Semidominant (1;7) 2017-09-12
Diantha La Vine
 Body Weight - decreased
 growth/size
21 UTSW Cd22 0.000 yosemite 7 30865402-30880342 bp (-) 30869509 Unknown (1;0)
 Autosomal Dominant (5;11)

 Autosomal Recessive (4;14)


 Autosomal Semidominant (6;17)
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
22 UTSW Myd88 0.000 Dani_alves 9 119335934-119341411 bp (-) 119337823 Autosomal Semidominant (4;17) 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
23 UTSW Socs2 0.130 samson 10 95385362-95417180 bp (-) 95413081 Autosomal Recessive (3;15)
 Autosomal Semidominant (1;5)
2017-06-05
Bruce Beutler
 Body Weight - increased
 Body Weight (DSS Male) - increased
 Body Weight (DSS) - increased
 Body Weight (Male) - increased
 growth/size
24 UTSW Itgax 0.080 Adendritic 7 128129547-128150657 bp (+) 128148572 Autosomal Recessive (1;7)
 Autosomal Semidominant (2;20)
2017-05-17
Katherine Timer
 FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
 FACS CD11c+ DCs - decreased
 FACS pDCs - increased
25 UTSW
has photo
Tyr 0.346 rufus 7 87424771-87493512 bp (-) 87492706 Autosomal Recessive (1;3) 2016-12-08
Anne Murray
 pigmentation
 skin/coat/nails
26 UTSW Ern2 0.105 ernie3 7 122169893-122186207 bp (-) 122173819 Autosomal Recessive (2;6) 2016-11-10
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
27 UTSW Prf1 0.000 prime 10 61297833-61304680 bp (+) 61303722 Autosomal Recessive (1;5) 2016-05-13
Anne Murray
 MCMV susceptibility
28 UTSW Lep 0.000 potbelly2 6 29060220-29073877 bp (+) 29069090 Unknown 2016-05-13
Anne Murray
 Body Weight - increased
 growth/size
29 UTSW
has photo
Msx2 0.000 duke 13 53466884-53473074 bp (-) 53468395 Autosomal Recessive (1;3) 2016-05-13
Anne Murray
 skin/coat/nails
 vision/eye
30 UTSW
has video
Tomt add 7 101898370-101906359 bp (-) 101902129 Unknown 2016-05-13
Stephen Lyon
 behavior/neurological
 hearing/vestibular/ear
 nervous system
[records 1 to 30 of 30]