Incidental Mutation 'IGL01666:D630039A03Rik'
ID103314
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D630039A03Rik
Ensembl Gene ENSMUSG00000052117
Gene NameRIKEN cDNA D630039A03 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.029) question?
Stock #IGL01666
Quality Score
Status
Chromosome4
Chromosomal Location57908483-57916297 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 57910570 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 81 (V81I)
Ref Sequence ENSEMBL: ENSMUSP00000068932 (fasta)
Predicted Effect possibly damaging
Transcript: ENSMUST00000063816
AA Change: V81I

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik G A 7: 28,153,292 V1335M probably damaging Het
9530077C05Rik A G 9: 22,431,698 D163G probably benign Het
Adgrb3 C A 1: 25,460,751 A664S probably damaging Het
Ankrd61 T A 5: 143,891,136 L297F probably damaging Het
Chrnd A T 1: 87,198,736 S513C possibly damaging Het
Col24a1 G A 3: 145,344,686 V645M possibly damaging Het
Csn3 T C 5: 87,930,157 V174A unknown Het
Deptor G A 15: 55,149,379 R54Q probably damaging Het
Ell A G 8: 70,585,813 H400R probably benign Het
Itga2 A G 13: 114,837,091 probably null Het
Itpr3 A G 17: 27,117,178 I2293V probably benign Het
Mrps27 A G 13: 99,409,816 E241G probably damaging Het
Mut T C 17: 40,958,811 L687P probably damaging Het
Myh9 C T 15: 77,761,931 A1951T probably benign Het
Oca2 G A 7: 56,314,811 probably null Het
Olfr135 C T 17: 38,208,889 L215F probably benign Het
Olfr215 T A 6: 116,582,335 I204F possibly damaging Het
Ptgdr2 T C 19: 10,940,910 F264L probably benign Het
Ptpn23 T C 9: 110,386,545 T1384A possibly damaging Het
Rasgrf2 A T 13: 92,038,210 D170E probably damaging Het
Rnf20 C T 4: 49,654,486 Q848* probably null Het
Other mutations in D630039A03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02071:D630039A03Rik APN 4 57910309 missense possibly damaging 0.94
IGL03338:D630039A03Rik APN 4 57910509 missense probably benign 0.12
R1828:D630039A03Rik UTSW 4 57910240 missense probably benign 0.02
R2883:D630039A03Rik UTSW 4 57910560 missense probably damaging 1.00
R3874:D630039A03Rik UTSW 4 57910606 missense probably benign 0.27
R3875:D630039A03Rik UTSW 4 57910606 missense probably benign 0.27
R4776:D630039A03Rik UTSW 4 57910452 missense possibly damaging 0.72
R5152:D630039A03Rik UTSW 4 57910434 missense probably damaging 1.00
R7003:D630039A03Rik UTSW 4 57910521 missense probably damaging 0.97
Posted On2014-01-21