Incidental Mutation 'IGL03179:D6Wsu163e'
ID 412140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D6Wsu163e
Ensembl Gene ENSMUSG00000030347
Gene Name DNA segment, Chr 6, Wayne State University 163, expressed
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03179
Quality Score
Status
Chromosome 6
Chromosomal Location 126916938-126952667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126927074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 187 (D187G)
Ref Sequence ENSEMBL: ENSMUSP00000032497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032497]
AlphaFold Q91YN0
Predicted Effect probably damaging
Transcript: ENSMUST00000032497
AA Change: D187G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032497
Gene: ENSMUSG00000030347
AA Change: D187G

DomainStartEndE-ValueType
Pfam:DUF2362 41 546 4.4e-218 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201113
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202086
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202964
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T A 14: 78,745,180 (GRCm39) H1736L probably benign Het
App A G 16: 84,879,735 (GRCm39) C133R probably damaging Het
Atxn7l2 G T 3: 108,110,963 (GRCm39) C524* probably null Het
Cckbr T C 7: 105,084,130 (GRCm39) V288A probably benign Het
Ccr1l1 T C 9: 123,777,787 (GRCm39) Y220C probably damaging Het
Cdc42se2 A T 11: 54,614,417 (GRCm39) F47I possibly damaging Het
Cep290 T A 10: 100,403,950 (GRCm39) I2317N possibly damaging Het
Chrnd T C 1: 87,123,502 (GRCm39) S347P probably damaging Het
Clcn5 T A X: 7,029,565 (GRCm39) probably null Het
Dnajc13 T A 9: 104,044,634 (GRCm39) I1852F probably benign Het
Ecpas C T 4: 58,832,777 (GRCm39) G861D probably damaging Het
Fcnb A G 2: 27,966,646 (GRCm39) S296P possibly damaging Het
Fut2 C T 7: 45,300,073 (GRCm39) R233K probably benign Het
Gm21985 G A 2: 112,188,900 (GRCm39) V1078I possibly damaging Het
Gpc3 A T X: 51,486,090 (GRCm39) probably benign Het
Krt10 A G 11: 99,280,044 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,584,781 (GRCm39) E370G probably damaging Het
Myo5c A T 9: 75,163,148 (GRCm39) I326F possibly damaging Het
Neb A T 2: 52,066,653 (GRCm39) L5906Q probably damaging Het
Nrdc A T 4: 108,903,888 (GRCm39) probably benign Het
Nrip2 A G 6: 128,381,938 (GRCm39) N17S possibly damaging Het
Or51f2 T C 7: 102,527,279 (GRCm39) probably benign Het
Or6s1 T C 14: 51,308,467 (GRCm39) I128V probably benign Het
P2rx7 A G 5: 122,811,763 (GRCm39) Y358C possibly damaging Het
Pex10 A C 4: 155,152,354 (GRCm39) I61L probably benign Het
Phax T C 18: 56,713,364 (GRCm39) F248L probably damaging Het
Phtf2 A T 5: 20,987,397 (GRCm39) D366E probably damaging Het
Pnpo A G 11: 96,830,085 (GRCm39) Y205H possibly damaging Het
Pparg T A 6: 115,416,833 (GRCm39) W9R probably damaging Het
Ppp4r3c2 G A X: 88,796,434 (GRCm39) G89S possibly damaging Het
Prex1 C T 2: 166,427,114 (GRCm39) S867N probably benign Het
Pyroxd2 T A 19: 42,736,001 (GRCm39) N59I possibly damaging Het
Rnf135 T A 11: 80,084,837 (GRCm39) S203R possibly damaging Het
Sall1 T A 8: 89,758,289 (GRCm39) N605I probably benign Het
Scara3 C T 14: 66,168,603 (GRCm39) R338H probably damaging Het
Slc25a14 T C X: 47,726,317 (GRCm39) S152P probably benign Het
Strip1 A T 3: 107,527,571 (GRCm39) F436I probably damaging Het
Tgfa T C 6: 86,248,403 (GRCm39) L135P probably benign Het
Tgif1 T C 17: 71,151,942 (GRCm39) Q170R possibly damaging Het
Tmc2 G A 2: 130,071,107 (GRCm39) E279K probably damaging Het
Tnks G T 8: 35,315,824 (GRCm39) N987K probably benign Het
Traf3ip3 T C 1: 192,876,676 (GRCm39) E209G probably damaging Het
Vmn2r73 T A 7: 85,519,468 (GRCm39) I497L probably benign Het
Wrn C A 8: 33,800,734 (GRCm39) probably null Het
Zcchc24 T C 14: 25,720,086 (GRCm39) I193V possibly damaging Het
Other mutations in D6Wsu163e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:D6Wsu163e APN 6 126,921,815 (GRCm39) missense possibly damaging 0.89
IGL02019:D6Wsu163e APN 6 126,932,184 (GRCm39) missense probably damaging 1.00
IGL02890:D6Wsu163e APN 6 126,951,450 (GRCm39) missense probably damaging 1.00
IGL02954:D6Wsu163e APN 6 126,951,441 (GRCm39) splice site probably benign
R0267:D6Wsu163e UTSW 6 126,923,454 (GRCm39) missense probably benign 0.17
R1405:D6Wsu163e UTSW 6 126,951,446 (GRCm39) splice site probably benign
R1483:D6Wsu163e UTSW 6 126,931,733 (GRCm39) missense probably benign 0.03
R1636:D6Wsu163e UTSW 6 126,923,564 (GRCm39) missense possibly damaging 0.54
R1847:D6Wsu163e UTSW 6 126,932,112 (GRCm39) missense probably damaging 1.00
R5883:D6Wsu163e UTSW 6 126,943,879 (GRCm39) missense probably damaging 1.00
R7402:D6Wsu163e UTSW 6 126,938,968 (GRCm39) missense probably damaging 0.98
R7587:D6Wsu163e UTSW 6 126,932,859 (GRCm39) missense probably benign 0.00
R8229:D6Wsu163e UTSW 6 126,943,966 (GRCm39) missense probably benign 0.12
R8347:D6Wsu163e UTSW 6 126,932,251 (GRCm39) nonsense probably null
R8732:D6Wsu163e UTSW 6 126,932,859 (GRCm39) missense possibly damaging 0.72
R8903:D6Wsu163e UTSW 6 126,931,778 (GRCm39) missense probably damaging 1.00
R9206:D6Wsu163e UTSW 6 126,943,932 (GRCm39) missense probably benign 0.02
R9208:D6Wsu163e UTSW 6 126,943,932 (GRCm39) missense probably benign 0.02
R9333:D6Wsu163e UTSW 6 126,952,096 (GRCm39) missense probably damaging 0.99
R9747:D6Wsu163e UTSW 6 126,938,977 (GRCm39) missense probably benign 0.15
Posted On 2016-08-02