Incidental Mutation 'IGL01147: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 #IGL01147
Quality Score
Chromosomal Location126939962-126975967 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 126944852 bp
Amino Acid Change Aspartic acid to Glycine at position 80 (D80G)
Ref Sequence ENSEMBL: ENSMUSP00000144570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032497] [ENSMUST00000201617]
Predicted Effect probably benign
Transcript: ENSMUST00000032497
AA Change: D80G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000032497
Gene: ENSMUSG00000030347
AA Change: D80G

Pfam:DUF2362 41 546 4.4e-218 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201113
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201603
Predicted Effect possibly damaging
Transcript: ENSMUST00000201617
AA Change: D80G

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144570
Gene: ENSMUSG00000030347
AA Change: D80G

Pfam:DUF2362 41 83 2.4e-7 PFAM
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,343,785 probably benign Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Cdh1 C A 8: 106,660,884 T472K probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cfap57 A T 4: 118,589,001 V688E probably damaging Het
Cfp G A X: 20,928,742 R155C probably damaging Het
Chst7 T C X: 20,060,752 I346T probably damaging Het
Crybg2 G A 4: 134,089,264 probably null Het
Ctsc T A 7: 88,302,271 V242D possibly damaging Het
Cyp27b1 C T 10: 127,050,386 T312I possibly damaging Het
Enpp3 G T 10: 24,774,907 T777K probably damaging Het
H2-M1 T A 17: 36,671,307 H134L possibly damaging Het
Heatr1 T C 13: 12,437,912 S2105P probably damaging Het
Herc2 T C 7: 56,156,949 S2388P probably benign Het
Igkv6-23 A G 6: 70,260,938 probably benign Het
Il1rapl2 C T X: 138,220,576 probably benign Het
Itpka T C 2: 119,742,773 L132P probably benign Het
Jak3 T C 8: 71,683,403 S616P probably benign Het
Kcnj11 T C 7: 46,098,769 K377E probably benign Het
Map4k3 A T 17: 80,636,718 probably null Het
Parp1 T C 1: 180,589,580 I643T probably damaging Het
Phf3 T C 1: 30,804,169 D1903G probably damaging Het
Picalm G T 7: 90,177,592 S416I probably benign Het
Pkn2 T C 3: 142,829,009 N285S probably benign Het
Sh3gl2 A C 4: 85,347,196 probably benign Het
Smpd1 C A 7: 105,555,736 T274K probably damaging Het
Snap91 G A 9: 86,798,558 T424M probably benign Het
Sox13 T A 1: 133,393,135 T46S probably benign Het
Syne1 G A 10: 5,052,691 Q8075* probably null Het
Trio T C 15: 27,881,320 E555G probably damaging Het
Upf3b T C X: 37,096,933 E298G probably damaging Het
Vmn1r158 A G 7: 22,790,779 S2P probably benign Het
Vmn1r6 T A 6: 57,002,641 L74H probably damaging Het
Vwa2 T C 19: 56,901,634 S224P probably damaging Het
Wbp1l T A 19: 46,644,369 V36E probably damaging Het
Zfp367 A G 13: 64,135,439 S300P probably damaging Het
Other mutations in D6Wsu163e
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2013-06-21