Incidental Mutation 'IGL03179:D6Wsu163e'
ID412140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D6Wsu163e
Ensembl Gene ENSMUSG00000030347
Gene NameDNA segment, Chr 6, Wayne State University 163, expressed
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03179
Quality Score
Status
Chromosome6
Chromosomal Location126939962-126975967 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 126950111 bp
ZygosityHeterozygous
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]
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
4932429P05Rik G A X: 89,752,828 G89S possibly damaging Het
AI314180 C T 4: 58,832,777 G861D probably damaging Het
Akap11 T A 14: 78,507,740 H1736L probably benign Het
App A G 16: 85,082,847 C133R probably damaging Het
Atxn7l2 G T 3: 108,203,647 C524* probably null Het
Cckbr T C 7: 105,434,923 V288A probably benign Het
Ccr1l1 T C 9: 123,977,750 Y220C probably damaging Het
Cdc42se2 A T 11: 54,723,591 F47I possibly damaging Het
Cep290 T A 10: 100,568,088 I2317N possibly damaging Het
Chrnd T C 1: 87,195,780 S347P probably damaging Het
Clcn5 T A X: 7,163,326 probably null Het
Dnajc13 T A 9: 104,167,435 I1852F probably benign Het
Fcnb A G 2: 28,076,634 S296P possibly damaging Het
Fut2 C T 7: 45,650,649 R233K probably benign Het
Gm21985 G A 2: 112,358,555 V1078I possibly damaging Het
Gpc3 A T X: 52,397,213 probably benign Het
Krt10 A G 11: 99,389,218 probably benign Het
Lrrk2 A G 15: 91,700,578 E370G probably damaging Het
Myo5c A T 9: 75,255,866 I326F possibly damaging Het
Neb A T 2: 52,176,641 L5906Q probably damaging Het
Nrd1 A T 4: 109,046,691 probably benign Het
Nrip2 A G 6: 128,404,975 N17S possibly damaging Het
Olfr568 T C 7: 102,878,072 probably benign Het
Olfr750 T C 14: 51,071,010 I128V probably benign Het
P2rx7 A G 5: 122,673,700 Y358C possibly damaging Het
Pex10 A C 4: 155,067,897 I61L probably benign Het
Phax T C 18: 56,580,292 F248L probably damaging Het
Phtf2 A T 5: 20,782,399 D366E probably damaging Het
Pnpo A G 11: 96,939,259 Y205H possibly damaging Het
Pparg T A 6: 115,439,872 W9R probably damaging Het
Prex1 C T 2: 166,585,194 S867N probably benign Het
Pyroxd2 T A 19: 42,747,562 N59I possibly damaging Het
Rnf135 T A 11: 80,194,011 S203R possibly damaging Het
Sall1 T A 8: 89,031,661 N605I probably benign Het
Scara3 C T 14: 65,931,154 R338H probably damaging Het
Slc25a14 T C X: 48,637,440 S152P probably benign Het
Strip1 A T 3: 107,620,255 F436I probably damaging Het
Tgfa T C 6: 86,271,421 L135P probably benign Het
Tgif1 T C 17: 70,844,947 Q170R possibly damaging Het
Tmc2 G A 2: 130,229,187 E279K probably damaging Het
Tnks G T 8: 34,848,670 N987K probably benign Het
Traf3ip3 T C 1: 193,194,368 E209G probably damaging Het
Vmn2r73 T A 7: 85,870,260 I497L probably benign Het
Wrn C A 8: 33,310,706 probably null Het
Zcchc24 T C 14: 25,719,662 I193V possibly damaging Het
Other mutations in D6Wsu163e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:D6Wsu163e APN 6 126944852 missense possibly damaging 0.89
IGL02019:D6Wsu163e APN 6 126955221 missense probably damaging 1.00
IGL02890:D6Wsu163e APN 6 126974487 missense probably damaging 1.00
IGL02954:D6Wsu163e APN 6 126974478 splice site probably benign
R0267:D6Wsu163e UTSW 6 126946491 missense probably benign 0.17
R1405:D6Wsu163e UTSW 6 126974483 splice site probably benign
R1483:D6Wsu163e UTSW 6 126954770 missense probably benign 0.03
R1636:D6Wsu163e UTSW 6 126946601 missense possibly damaging 0.54
R1847:D6Wsu163e UTSW 6 126955149 missense probably damaging 1.00
R5883:D6Wsu163e UTSW 6 126966916 missense probably damaging 1.00
R7402:D6Wsu163e UTSW 6 126962005 missense probably damaging 0.98
R7587:D6Wsu163e UTSW 6 126955896 missense probably benign 0.00
Posted On2016-08-02