Incidental Mutation 'IGL02310:9530077C05Rik'
ID287780
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9530077C05Rik
Ensembl Gene ENSMUSG00000036411
Gene NameRIKEN cDNA 9530077C05 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02310
Quality Score
Status
Chromosome9
Chromosomal Location22411513-22444681 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 22424428 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 114 (Y114C)
Ref Sequence ENSEMBL: ENSMUSP00000062120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058868] [ENSMUST00000214436] [ENSMUST00000215715]
Predicted Effect probably benign
Transcript: ENSMUST00000058868
AA Change: Y114C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000062120
Gene: ENSMUSG00000036411
AA Change: Y114C

DomainStartEndE-ValueType
low complexity region 79 100 N/A INTRINSIC
DUF1704 202 511 1.28e-137 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213598
Predicted Effect probably benign
Transcript: ENSMUST00000214436
Predicted Effect probably benign
Transcript: ENSMUST00000215715
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 T A 10: 89,023,878 K382* probably null Het
Bcl9l A G 9: 44,509,305 Y1299C probably damaging Het
Best1 T A 19: 9,989,152 H357L probably benign Het
Cdc26 T C 4: 62,395,029 probably benign Het
Esyt2 C T 12: 116,365,921 L700F probably benign Het
Fkbp15 T C 4: 62,340,316 Y138C probably damaging Het
Gbp6 T C 5: 105,290,975 N16D probably benign Het
Gm44805 A G 7: 19,671,763 *98Q probably null Het
Hecw2 T C 1: 53,923,916 D812G probably null Het
Hic2 G A 16: 17,257,757 R150Q probably damaging Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Klhl36 T A 8: 119,869,617 probably null Het
Mug2 C T 6: 122,059,123 probably benign Het
Olfr1410 T C 1: 92,608,065 V76A possibly damaging Het
Pdcl2 A T 5: 76,317,881 I116N probably damaging Het
Pkn2 A G 3: 142,811,580 I482T probably damaging Het
Prss53 T G 7: 127,886,614 D518A probably benign Het
Psme4 A G 11: 30,837,484 D1093G probably benign Het
Tmcc2 A T 1: 132,358,907 I602N probably damaging Het
Tmem55b T C 14: 50,929,210 T187A possibly damaging Het
Ttn C T 2: 76,788,691 V16115I possibly damaging Het
Zbtb21 G T 16: 97,951,790 T459K possibly damaging Het
Other mutations in 9530077C05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:9530077C05Rik APN 9 22435164 missense probably benign 0.00
IGL01574:9530077C05Rik APN 9 22444130 missense possibly damaging 0.75
IGL01666:9530077C05Rik APN 9 22431698 missense probably benign 0.08
IGL02111:9530077C05Rik APN 9 22424179 missense probably benign
IGL02638:9530077C05Rik APN 9 22430479 nonsense probably null
LCD18:9530077C05Rik UTSW 9 22442083 intron probably benign
R1239:9530077C05Rik UTSW 9 22424699 intron probably benign
R1519:9530077C05Rik UTSW 9 22430375 missense probably benign 0.01
R2248:9530077C05Rik UTSW 9 22444114 missense probably benign 0.36
R2438:9530077C05Rik UTSW 9 22431683 missense probably damaging 0.99
R4838:9530077C05Rik UTSW 9 22424377 missense probably damaging 0.98
R5304:9530077C05Rik UTSW 9 22424232 missense probably benign 0.28
R5418:9530077C05Rik UTSW 9 22431770 missense probably damaging 1.00
R5460:9530077C05Rik UTSW 9 22439920 missense probably benign 0.01
R5652:9530077C05Rik UTSW 9 22424490 missense probably benign 0.00
R6008:9530077C05Rik UTSW 9 22424126 nonsense probably null
Posted On2015-04-16