Incidental Mutation 'IGL02655:4930544G11Rik'
ID 302312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930544G11Rik
Ensembl Gene ENSMUSG00000036463
Gene Name RIKEN cDNA 4930544G11 gene
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.775) question?
Stock # IGL02655
Quality Score
Status
Chromosome 6
Chromosomal Location 65929593-65930998 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 65930074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 103 (V103G)
Ref Sequence ENSEMBL: ENSMUSP00000045487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043382]
AlphaFold Q9CR99
Predicted Effect probably damaging
Transcript: ENSMUST00000043382
AA Change: V103G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045487
Gene: ENSMUSG00000036463
AA Change: V103G

DomainStartEndE-ValueType
RHO 8 181 5.39e-125 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A T 2: 35,270,498 (GRCm39) S68T possibly damaging Het
Adam7 A T 14: 68,754,060 (GRCm39) D346E probably damaging Het
Adamts1 A G 16: 85,599,505 (GRCm39) S32P probably benign Het
Adamtsl2 T C 2: 26,972,542 (GRCm39) probably benign Het
Adgrb2 C A 4: 129,885,972 (GRCm39) Y37* probably null Het
Apba3 A G 10: 81,108,788 (GRCm39) R547G probably benign Het
Ccnd2 C T 6: 127,125,733 (GRCm39) G101D probably damaging Het
Cpm A G 10: 117,519,186 (GRCm39) T365A probably benign Het
Cpt2 A G 4: 107,764,624 (GRCm39) V380A probably damaging Het
Dnah7b A T 1: 46,155,461 (GRCm39) probably benign Het
Enpp1 A C 10: 24,553,872 (GRCm39) D105E probably damaging Het
Ermp1 C A 19: 29,623,610 (GRCm39) E127* probably null Het
Evi5 T C 5: 107,961,446 (GRCm39) K375R probably benign Het
Gm11564 A T 11: 99,705,982 (GRCm39) C149* probably null Het
Golgb1 A T 16: 36,738,442 (GRCm39) E2260D probably damaging Het
Gpc2 T C 5: 138,277,187 (GRCm39) D80G possibly damaging Het
Hsd11b2 A G 8: 106,248,960 (GRCm39) I151V probably benign Het
Knl1 T C 2: 118,901,473 (GRCm39) I1058T possibly damaging Het
Krtap4-8 A T 11: 99,671,454 (GRCm39) probably benign Het
Me1 A G 9: 86,536,780 (GRCm39) probably benign Het
Mki67 C T 7: 135,315,748 (GRCm39) R38H probably damaging Het
Nsmaf A G 4: 6,424,933 (GRCm39) F272L possibly damaging Het
Pcyox1 A T 6: 86,366,326 (GRCm39) V78E probably damaging Het
Pkp1 G T 1: 135,817,511 (GRCm39) T208N probably benign Het
Plagl2 T C 2: 153,074,337 (GRCm39) E188G probably damaging Het
Pramel15 A G 4: 144,099,416 (GRCm39) F450L probably benign Het
Relch G A 1: 105,605,971 (GRCm39) V204M probably damaging Het
Ric1 T A 19: 29,572,851 (GRCm39) S764T probably damaging Het
Sec24a G A 11: 51,625,482 (GRCm39) T247M probably benign Het
Slc25a17 C T 15: 81,207,844 (GRCm39) R248Q probably benign Het
Stk36 C T 1: 74,673,694 (GRCm39) P1068S probably damaging Het
Tcn2 C A 11: 3,876,158 (GRCm39) S90I possibly damaging Het
Tfec C T 6: 16,834,308 (GRCm39) A200T possibly damaging Het
Vmn2r4 A G 3: 64,305,886 (GRCm39) I512T probably damaging Het
Other mutations in 4930544G11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00698:4930544G11Rik APN 6 65,929,879 (GRCm39) missense probably damaging 1.00
IGL01071:4930544G11Rik APN 6 65,930,137 (GRCm39) missense probably damaging 1.00
IGL02528:4930544G11Rik APN 6 65,930,357 (GRCm39) utr 3 prime probably benign
IGL02692:4930544G11Rik APN 6 65,929,792 (GRCm39) missense probably damaging 1.00
PIT4576001:4930544G11Rik UTSW 6 65,929,983 (GRCm39) missense probably damaging 1.00
R2407:4930544G11Rik UTSW 6 65,930,212 (GRCm39) missense probably benign 0.06
R7070:4930544G11Rik UTSW 6 65,930,232 (GRCm39) missense probably damaging 0.98
R7203:4930544G11Rik UTSW 6 65,930,317 (GRCm39) missense probably benign
R7910:4930544G11Rik UTSW 6 65,930,289 (GRCm39) missense probably benign 0.01
R8462:4930544G11Rik UTSW 6 65,930,074 (GRCm39) missense possibly damaging 0.78
Posted On 2015-04-16