Incidental Mutation 'IGL02890:D6Wsu163e'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D6Wsu163e
Ensembl Gene ENSMUSG00000030347
Gene NameDNA segment, Chr 6, Wayne State University 163, expressed
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02890
Quality Score
Chromosomal Location126939962-126975967 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 126974487 bp
Amino Acid Change Glycine to Aspartic acid at position 500 (G500D)
Ref Sequence ENSEMBL: ENSMUSP00000032497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032497]
Predicted Effect probably damaging
Transcript: ENSMUST00000032497
AA Change: G500D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032497
Gene: ENSMUSG00000030347
AA Change: G500D

Pfam:DUF2362 41 546 4.4e-218 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202086
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900055J20Rik A G 18: 40,257,027 probably benign Het
Adam39 A T 8: 40,825,153 I194L probably benign Het
Akirin1 A G 4: 123,738,062 V171A probably damaging Het
Camk2b A T 11: 6,001,340 D91E possibly damaging Het
Ccser1 A G 6: 62,379,831 D751G probably damaging Het
Dchs1 G T 7: 105,756,491 D2395E probably damaging Het
Fam189b A T 3: 89,186,782 T223S possibly damaging Het
Fat3 T C 9: 15,915,340 T4439A probably benign Het
Fn1 A G 1: 71,598,372 probably null Het
Galnt14 A C 17: 73,509,524 probably null Het
Gemin4 A C 11: 76,211,264 S890R probably damaging Het
Glrp1 T A 1: 88,509,788 probably null Het
Grik1 A G 16: 87,896,802 probably benign Het
Hist1h2bm G T 13: 21,722,186 R30L probably benign Het
Hspa12a C T 19: 58,820,999 probably null Het
Hykk C T 9: 54,920,711 P78L probably benign Het
Kctd13 G A 7: 126,930,731 G115R probably benign Het
Ltn1 C T 16: 87,409,297 probably null Het
Mat2a A G 6: 72,436,246 L167P probably damaging Het
Myo6 A G 9: 80,266,174 E532G probably damaging Het
Nrbp2 G T 15: 76,089,457 L272M probably damaging Het
Nrd1 A G 4: 109,053,919 D790G possibly damaging Het
Olfr1507 T A 14: 52,490,911 T18S probably benign Het
Olfr180 T C 16: 58,916,374 D89G probably benign Het
Olfr943 T C 9: 39,184,268 L27P probably damaging Het
Pcdh10 A T 3: 45,392,617 H949L probably damaging Het
Pikfyve A G 1: 65,230,797 Y547C probably benign Het
Pkhd1 A T 1: 20,361,011 V2392D probably damaging Het
Ppp1r3g A T 13: 35,969,331 T245S probably damaging Het
Prkaa1 A G 15: 5,177,086 N439S possibly damaging Het
Radil A G 5: 142,543,708 Y78H probably damaging Het
Ric8b A T 10: 85,001,867 M513L possibly damaging Het
Slc4a10 T C 2: 62,286,916 S740P probably damaging Het
Slc5a12 T C 2: 110,624,133 probably benign Het
Smg1 G A 7: 118,185,501 probably benign Het
Spef2 C T 15: 9,748,767 M1I probably null Het
Tmc5 A T 7: 118,645,430 probably benign Het
Tpp2 C T 1: 43,999,690 A1132V probably damaging Het
Ttll4 A T 1: 74,687,339 K699* probably null 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
IGL02954:D6Wsu163e APN 6 126974478 splice site probably benign
IGL03179:D6Wsu163e APN 6 126950111 missense probably damaging 1.00
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 On2015-12-18