Phenotypic Mutations

511 mutations affecting 267 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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1 APN Atp11c 18nih30a X 60223290-60592698 bp (-) 36608577 X-linked Recessive  anemia
decrease in B cells
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
2 UTSW Unc93b1 3d 19 3935186-3949340 bp (+) 3944168 Autosomal Recessive  decrease in response to injected CpG DNA
DSS: sensitive day 7
immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
3 UTSW Sppl2a abra 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
4 UTSW Sppl2a abra2 2 126890391-126933235 bp (-) 126920313 Autosomal Recessive  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
5 UTSW Edaradd achtung 13 12471209-12520450 bp (-) 12478497 Autosomal Recessive  craniofacial
limbs/digits/tail phenotype
skin/coat/nails
6 UTSW Edar achtung2 10 58600789-58675654 bp (-) 58603163 Autosomal Recessive  craniofacial
limbs/digits/tail phenotype
skin/coat/nails
7 UTSW Itgax Adendritic 7 128129547-128150656 bp (+) 128148572 Autosomal Semidominant  decrease in CD11b+ DCs in CD11c+ cells
decrease in CD11c+ DCs
decrease in pDCs in CD11c+ cells
8 UTSW Cd8a alfalfa 6 71373427-71379171 bp (+) 71373728 Autosomal Recessive  decrease in CD8+ T cells
decrease in naive CD8 T cells in CD8 T cells
increase in CD4:CD8
increase in CD4+ T cells
increase in CD4+ T cells in CD3+ T cells
increase in CD44 MFI in CD8
increase in central memory CD8 T cells in CD8 T cells
increase in effector memory CD8 T cells in CD8 T cells
MCMV susceptibility
post-MCMV decrease in CD8+ T cells
post-MCMV decrease in CD8+ T cells in CD3+ T cells
post-MCMV increase in CD4+ T cells in CD3+ T cells
9 UTSW Cd247 allia 1 165788681-165877277 bp (+) 165855214 Autosomal Recessive  hematopoietic competition - disadvantage
immune system
10 UTSW Cd36 almond_joy 5 17781690-17888959 bp (-) 17813088 Autosomal Recessive  fasting hyperglycemia
11 UTSW Prkcb Almonde 7 122288751-122634402 bp (+) 122582449 Autosomal Semidominant  decrease in B1 cells
post-MCMV decrease in B1a cells in B1 cells
post-MCMV increase in B1b cells in B1 cells
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
12 APN Atp11c ambrosius X 60223290-60592698 bp (-) 36608577 X-linked Recessive  anemia
decrease in B cells
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
13 UTSW Casp8 amontillado 1 58795374-58847503 bp (+) 58844770 Autosomal Recessive  decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in naive CD8 T cells in CD8 T cells
increase in CD11c+ DCs
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in CD8+ T cells in CD3+ T cells
increase in effector memory CD4 T cells in CD4 T cells
increase in effector memory CD8 T cells in CD8 T cells
increase in neutrophils
increase in NK cells
increase in NK T cells
14 UTSW Pik3r1 anubis 13 101680563-101768217 bp (-) 101702776 Autosomal Recessive  decrease in B cells
decrease in B:T cells
decrease in B1a cells in B1 cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in CD4+ T cells
increase in CD8+ T cells
increase in IgE response to a Cysteine Protease (Papain)
increase in OVA-specific IgE
increase in T cells
15 UTSW Col4a4 aoba 1 82448423-82586849 bp (-) 82535740 Autosomal Recessive  digestive/alimentary
hearing/vestibular/ear
renal/urinary system
16 UTSW Pax5 Apple 4 44531145-44710487 bp (-) Unknown  decrease in B cells
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
17 UTSW Tnfsf13b Applecrisp 8 10006843-10035441 bp (+) 10031534 Autosomal Semidominant  decrease in B:T cells
T-dependent humoral response defect- decreased antibody response to rSFV
18 UTSW Dock2 Arches 11 34226815-34783892 bp (-) 34689760 Autosomal Semidominant  decrease in CD4:CD8
decrease in CD4+ T cells in CD3+ T cells
increase in B1 cells
increase in CD8+ T cells in CD3+ T cells
19 UTSW Alms1 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive  adipose tissue
growth/size
increase in body weight
20 UTSW Fcer2a arum 8 3681737-3694174 bp (-) 3688796 Autosomal Recessive  decrease in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in CD11c+ DCs
increase in neutrophils
21 UTSW Tlr9 Asura 9 106222598-106226883 bp (+) 106224647 Autosomal Semidominant  TLR signaling defect: hyposensitivity to CpG
22 UTSW Eif2ak4 atchoum 2 118388618-118475234 bp (+) 118400653 Autosomal Recessive  adenovirus infection of macrophages- increased
immune system
MCMV proliferation in macrophages- increased
23 UTSW Traf3 bananasplit 12 111166370-111267153 bp (+) 111262036 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
24 UTSW Gk5 barrener 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive  skin/coat/nails
25 UTSW Ptprc belittle 1 138062861-138175708 bp (-) 138137493 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
hematopoietic system
immune system
26 UTSW Rho Bemr3 6 115931927-115938829 bp (+) 115935131 Autosomal Semidominant  vision/eye
27 UTSW Rac2 Big_bend 15 78559169-78572783 bp (-) 78565945 Autosomal Semidominant  decrease in B1 cells
decrease in B1a cells in B1 cells
increase in B1b cells
28 UTSW Mc4r Big_boned 18 66857715-66860472 bp (-) 66859488 Autosomal Semidominant  growth/size
increase in body weight
29 UTSW Rac2 bingo 15 78559169-78572783 bp (-) 78564968 Unknown  T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
30 UTSW Blk blaenka 14 63372837-63417187 bp (-) 63384002 Autosomal Recessive  increase in IgE response to a Cysteine Protease (Papain)
increase in total IgE level
31 UTSW Cd40 bluebonnet 2 165055627-165072948 bp (+) 165062301 Autosomal Recessive  increase in OVA-specific IgE
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
32 UTSW Ticam2 Branch 18 46559155-46574533 bp (-) 46560651 Autosomal Semidominant  TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
33 UTSW Malt1 bryce_canyon 18 65430963-65478823 bp (+) 65462915 Autosomal Recessive  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
34 UTSW Adamts20 buckeye 15 94270163-94465418 bp (-) 94341087 Autosomal Recessive  pigmentation
skin/coat/nails
35 UTSW Tlr4 bugsy 4 66827584-66930284 bp (+) 66839254 Autosomal Recessive  Macrophage necroptosis: high
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
36 UTSW Nfkbid bumble 7 30421732-30428746 bp (+) 30425411 Autosomal Recessive  decrease in B cells
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
37 UTSW Blnk busy 19 40928927-40994535 bp (-) 40952391 Autosomal Recessive  decrease in B cells
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
38 UTSW Tyrp1 butter 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive  pigmentation
skin/coat/nails
39 UTSW Ptpn6 candle 6 124720707-124738714 bp (-) 124728419 Autosomal Recessive  decrease in B cells
decrease in B2 cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in B1 cells
increase in B1a cells
increase in B1a cells in B1 cells
increase in B1b cells
increase in CD11c+ DCs
increase in CD44 MFI in CD8
increase in macrophages
40 UTSW Dock2 capitol_reef 11 34226815-34783892 bp (-) 34294170 Autosomal Recessive  increase in OVA-specific IgE
increase in total IgE level
41 APN Dock8 captain_morgan 19 24999529-25202432 bp (+) 25127711 Autosomal Recessive  decrease in B cells
decrease in CD4+ T cells
decrease in CD8+ T cells
immune system
42 UTSW Cd8b1 Carlsbad 6 71322812-71337451 bp (+) 71334101 Autosomal Semidominant  decrease in CD8+ T cells in CD3+ T cells
increase in CD4:CD8
increase in CD4+ T cells in CD3+ T cells
T-dependent humoral response defect- increased antibody response to rSFV
43 UTSW Kit Casper 5 75574916-75656722 bp (+) 75645875 Autosomal Dominant  hematopoietic system
immune system
pigmentation
reproductive system
skin/coat/nails
44 UTSW Prkcq celina 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
45 UTSW Prkcq celina2 2 11172108-11301222 bp (+) 11226986 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
46 UTSW Zeb1 cellophane 18 5591860-5775467 bp (+) 5770554 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
47 UTSW Oca2 charbon 7 56239760-56536517 bp (+) 56316405 Autosomal Recessive  pigmentation
skin/coat/nails
48 UTSW Fas cherry 19 34290659-34327770 bp (+) 34327140 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
decrease in T cells
increase in neutrophils
increase in NK cells
49 UTSW Rorc chestnut 3 94372831-94397839 bp (+) 94377609 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
50 UTSW Mc4r chubby 18 66857715-66860472 bp (-) 66859847 Autosomal Recessive  adipose tissue
growth/size
51 UTSW Jak3 citron 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive  cellular phenotype
hematopoietic system
immune system
increase in B cells
increase in B:T cells
increase in IgD+ B cells
increase in IgM+ B cells
52 UTSW Prkdc clover 16 15637866-15842235 bp (+) 15702157 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
53 UTSW Ppp3cb Copacabana 14 20499364-20546573 bp (-) 20530942 Autosomal Semidominant  Circadian defect: decreased wheel revs/24H
decrease in CD4+ T cells
decrease in CD8+ T cells
decrease in T cells
DSS: sensitive day 10
increase in B:T cells
increase in CD44 MFI in CD8
increase in central memory CD8 T cells in CD8 T cells
increase in NK cells
54 UTSW Tlr9 Cpg1 9 106222598-106226883 bp (+) 106225007 Autosomal Semidominant  decrease in response to injected CpG DNA
immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
55 UTSW Tlr9 Cpg11 9 106222598-106226883 bp (+) 106224586 Autosomal Semidominant  TLR signaling defect: TNF production by macrophages
56 UTSW Tlr9 Cpg2 9 106222598-106226883 bp (+) 106226465 Autosomal Semidominant  immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
57 UTSW Tlr9 Cpg3 9 106222598-106226883 bp (+) 106224152 Autosomal Semidominant  decrease in response to injected CpG DNA
immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
TLR signaling defect: type I IFN production by macrophages
58 UTSW Tlr9 Cpg5 9 106222598-106226883 bp (+) 106224689 Autosomal Semidominant  immune system
MCMV susceptibility
TLR signaling defect: TNF production by macrophages
59 UTSW Tlr9 Cpg6 9 106222598-106226883 bp (+) 106226593 Autosomal Semidominant  decrease in response to injected CpG DNA
immune system
TLR signaling defect: TNF production by macrophages
60 UTSW Tlr9 Cpg7 9 106222598-106226883 bp (+) 106225349 Autosomal Semidominant  DSS: sensitive
immune system
TLR signaling defect: TNF production by macrophages
61 UTSW Cd79a crab 7 24897381-24902197 bp (+) 24899175 Autosomal Recessive  decrease in B cells
immune system
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
62 UTSW Galc Crabby2 12 98202304-98259459 bp (-) 98234266 Autosomal Semidominant  decrease in body weight
63 UTSW Cd4 craw 6 124864692-124888221 bp (-) 124867746 Autosomal Recessive  decrease in CD4+ T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
64 UTSW Lyn Cress 4 3678115-3813122 bp (+) 3789908 Autosomal Semidominant  decrease in B cells
decrease in B:T cells
decrease in B220 MFI in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in B1a cells
increase in B1a cells in B1 cells
increase in CD4+ T cells
increase in CD8+ T cells
increase in T cells
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
65 UTSW Cd22 crullers 7 30865402-30880342 bp (-) 30869883 Autosomal Recessive  decrease in B cells
decrease in B2 cells
decrease in IgD MFI in B cells
increase in B1a cells
increase in B1b cells
post-MCMV decrease in B cells
post-MCMV decrease in IgD+ B cells
post-MCMV decrease in IgM+ B cells
66 UTSW Tlr4 cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive  Macrophage necroptosis: low
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
67 UTSW Neurod1 cruz 2 79452521-79456751 bp (-) 79454595 Autosomal Recessive  behavior/neurological
hearing/vestibular/ear
68 UTSW Ltbp3 csp 19 5740904-5758532 bp (+) 5747688 Autosomal Recessive  craniofacial
growth/size
limbs/digits/tail phenotype
skeleton phenotype
69 UTSW Themis currant 10 28668360-28883818 bp (+) 28782011 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in T cells
increase in CD44 MFI in CD4
increase in CD44 MFI in CD8
increase in CD8+ T cells in CD3+ T cells
70 UTSW Nek7 Cuties 1 138482875-138620141 bp (-) 138544242 Autosomal Semidominant  NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
71 UTSW Atp7b daffodil 8 21992785-22060305 bp (-) 21998266 Unknown  liver/biliary system
MTT value of PECs: decreased
72 UTSW Myd88 Dani_alves 9 119335934-119341411 bp (-) 119337823 Autosomal Semidominant  TLR signaling defect: hyposensitivity to CpG
TLR signaling defect: hyposensitivity to R848
73 UTSW Tap2 date 17 34203527-34216321 bp (+) 34212354 Autosomal Recessive  decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
increase in B:T cells
increase in CD4+ T cells in CD3+ T cells
increase in CD44 MFI in CD8
74 UTSW Tap2 date2 17 34203527-34216321 bp (+) 34214032 Autosomal Recessive  decrease in CD44 MFI in CD4
decrease in CD44+ CD8 T cells
decrease in CD8+ T cells
decrease in CD8+ T cells in CD3+ T cells
decrease in CTL killing dominant epitope
decrease in effector memory CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
increase in CD4:CD8
increase in CD4+ T cells
increase in CD4+ T cells in CD3+ T cells
increase in CD44 MFI in CD8
increase in central memory CD8 T cells in CD8 T cells
increase in naive CD4 T cells in CD4 T cells
increase in NK cells
75 UTSW Themis death_valley 10 28668360-28883818 bp (+) 28668727 Autosomal Recessive  decrease in CD4:CD8
decrease in CD4+ T cells
decrease in CD4+ T cells in CD3+ T cells
decrease in naive CD4 T cells in CD4 T cells
decrease in T cells
increase in B:T cells
increase in CD44 MFI in CD4
increase in CD44 MFI in T cells
increase in CD8+ T cells in CD3+ T cells
increase in effector memory CD4 T cells in CD4 T cells
76 UTSW Cdh23 dee_dee 10 60302748-60696490 bp (-) 60308056 Autosomal Recessive  hearing/vestibular/ear
77 UTSW Fbxl3 delargo 14 103080239-103099566 bp (-) 103089418 Autosomal Recessive  Circadian defect: decrease in circadian active phase duration
Circadian defect: decrease in circadian tau activity onset
Circadian defect: increase in circadian tau DD by eye
Circadian defect: increase in tau chi squared periodogram
Circadian rhythm
fasting hyperglycemia
78 UTSW Rims4 demure 2 163859751-163918683 bp (-) 163864120 Autosomal Recessive  decrease in body weight
growth/size
79 UTSW Dock2 denali 11 34226815-34783892 bp (-) 34229472 Autosomal Recessive  decrease in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
increase in macrophages
increase in neutrophils
increase in NK cells
increase in total IgE level
80 UTSW Dock2 dew 11 34226815-34783892 bp (-) 34248636 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
T-dependent humoral response defect- decreased antibody response to rSFV
81 UTSW Sell dim_sum 1 164061982-164084181 bp (+) 164066201 Autosomal Recessive  decrease in naive CD4 T cells in CD4 T cells
82 UTSW Sell dim_sum2 1 164061982-164084181 bp (+) 164065661 Autosomal Recessive  decrease in naive CD4 T cells in CD4 T cells
decrease in naive CD8 T cells in CD8 T cells
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
83 UTSW Rims4 diminutive 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive  decrease in body weight
growth/size
84 UTSW Tnf Dome 17 35199381-35202007 bp (-) 35201674 Autosomal Dominant  TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
85 UTSW Stat1 domino 1 52119440-52161865 bp (+) 52140588 Autosomal Recessive  decrease in NK cell response
decrease in response to injected CpG DNA
immune system
MCMV proliferation in macrophages- increased
MCMV susceptibility
RVFV susceptibility
86 UTSW Tlr4 don_knotts 4 66827584-66930284 bp (+) 66841172 Autosomal Recessive  decrease in B cells
decrease in B220 MFI in B cells
decrease in IgD+ B cells
decrease in IgM+ B cells
TLR signaling defect: hyposensitivity to LPS
87 UTSW Agtpbp1 drunk 13 59449537-59585227 bp (-) 59512323 Autosomal Recessive  behavior/neurological
nervous system
88 UTSW Socs7 Dunn 11 97362551-97398542 bp (+) 97373124 Autosomal Dominant  decrease in body weight
89 UTSW Slc6a6 durango 6 91684067-91759063 bp (+) 91723471 Autosomal Recessive  eye: decrease in BM to ILM thickness
vision/eye
90 UTSW Klc1 dwarf 12 111758849-111807844 bp (+) 111795603 Autosomal Recessive  decrease in body weight
91 UTSW Entpd5 eatsy 12 84373875-84409029 bp (-) 84382295 Autosomal Recessive  decrease in IgD MFI in B cells
decrease in phagocytosis in PECs
growth/size
increase in 125-03 response
92 APN Muc2 Eeyore 7 141690340-141754693 bp (+) 141693356 Autosomal Semidominant  DSS: sensitive
immune system
93 UTSW Slfn2 elektra 11 83065112-83070678 bp (+) 83069600 Autosomal Recessive  decrease in CD8 response
decrease in CD8+ T cells
decrease in NK T cells
hematopoietic system
immune system
MCMV susceptibility
94 UTSW Slfn2 elektra2 11 83065112-83070678 bp (+) 83069564 Autosomal Recessive  T-dependent humoral response defect- decreased antibody response to rSFV
95 UTSW Atp11c emptyhive X 60223290-60592698 bp (-) 60269987 X-linked Recessive  decrease in B cells
hematopoietic system
homeostasis/metabolism
immune system
liver/biliary system
reproductive system
96 UTSW Irf1 Endeka 11 53770014-53778374 bp (+) 53772891 Autosomal Semidominant  decrease in CD8+ T cells
decrease in NK cell response
decrease in NK cells
decrease in NK T cells
hematopoietic system
immune system
MCMV susceptibility
TLR signaling defect: type I IFN production by macrophages
97 UTSW Ern2 ernie 7 122169893-122186216 bp (-) 122171661 Autosomal Recessive  DSS: sensitive day 10
DSS: sensitive day 7
98 UTSW Ern2 Ernie2 7 122169893-122186216 bp (-) 122180862 Autosomal Semidominant  DSS: sensitive day 10
99 UTSW Ern2 ernie3 7 122169893-122186216 bp (-) 122173819 Autosomal Recessive  DSS: sensitive day 10
DSS: sensitive day 7
100 UTSW Ppp3cb everglades 14 20499364-20546573 bp (-) 20530948 Autosomal Recessive  decrease in CD4+ T cells
decrease in CD8+ T cells
decrease in naive CD8 T cells in CD8 T cells
decrease in T cells
increase in B:T cells
increase in CD44 MFI in CD8
increase in CD44 MFI in T cells
increase in central memory CD8 T cells in CD8 T cells
increase in effector memory CD8 T cells in CD8 T cells
increase in NK cells
increase in OVA-specific IgE
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
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