Incidental Mutation 'IGL02954: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 #IGL02954
Quality Score
Chromosomal Location126939962-126975967 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 126974478 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032497]
Predicted Effect probably benign
Transcript: ENSMUST00000032497
SMART Domains Protein: ENSMUSP00000032497
Gene: ENSMUSG00000030347

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
Abcb1a G T 5: 8,732,341 R908L probably benign Het
Abcc9 T C 6: 142,646,281 N774S probably damaging Het
Alpk2 C T 18: 65,306,136 V729I probably benign Het
Atf3 T C 1: 191,171,655 N125D probably damaging Het
Bcat1 C T 6: 145,019,219 G215D probably damaging Het
Bptf G T 11: 107,054,749 Q2555K possibly damaging Het
Cthrc1 A G 15: 39,076,994 probably benign Het
Cyp2c38 A G 19: 39,391,076 M443T probably damaging Het
Dgkg T A 16: 22,622,253 E3D probably benign Het
Dnah8 G T 17: 30,704,835 R1259L probably benign Het
Dnah9 A G 11: 66,118,967 L698P probably damaging Het
Ebag9 A C 15: 44,630,205 H141P probably benign Het
Emilin2 T C 17: 71,256,531 R840G probably benign Het
Faap100 A T 11: 120,372,131 H800Q probably damaging Het
Fh1 A T 1: 175,609,735 I266N probably damaging Het
Fkbp15 A G 4: 62,321,065 probably benign Het
Gm17334 A G 11: 53,772,828 probably benign Het
Gm5773 G T 3: 93,773,051 W10L probably benign Het
Gng13 T C 17: 25,718,752 Y18H probably damaging Het
Hivep3 T C 4: 120,133,641 S2113P probably damaging Het
Ift81 A T 5: 122,610,185 probably benign Het
Irak3 A C 10: 120,176,242 L206V probably damaging Het
Kcng4 C T 8: 119,633,053 A195T probably benign Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Nars2 T G 7: 97,039,893 probably null Het
Nol8 T C 13: 49,661,172 V234A probably benign Het
Olfr533 A T 7: 140,466,440 K80* probably null Het
Olfr99 T A 17: 37,280,304 N39Y probably damaging Het
Patz1 A G 11: 3,291,761 Y383C probably damaging Het
Pdcd5 T C 7: 35,643,664 Y152C probably damaging Het
Phkg1 A G 5: 129,866,069 W214R probably damaging Het
Plxna1 A G 6: 89,324,667 L1459P probably damaging Het
Pspc1 G A 14: 56,771,760 P206S probably benign Het
St7 A T 6: 17,848,031 N198I probably damaging Het
Supt3 A G 17: 45,038,128 D249G probably damaging Het
Taf1c T C 8: 119,600,486 Y418C probably damaging Het
Tdrd6 A G 17: 43,627,262 V965A possibly damaging Het
Ugt2b35 A G 5: 87,011,321 N458S probably benign Het
Vmn1r8 A G 6: 57,036,330 Y122C probably benign 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
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