Incidental Mutation 'IGL01071:4930544G11Rik'
ID 51255
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 # IGL01071
Quality Score
Status
Chromosome 6
Chromosomal Location 65929593-65930998 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 65930137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 124 (D124A)
Ref Sequence ENSEMBL: ENSMUSP00000045487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043382]
AlphaFold Q9CR99
Predicted Effect probably damaging
Transcript: ENSMUST00000043382
AA Change: D124A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045487
Gene: ENSMUSG00000036463
AA Change: D124A

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
Arhgef17 C A 7: 100,534,907 (GRCm39) V1137L probably damaging Het
Birc6 A G 17: 74,873,127 (GRCm39) D462G possibly damaging Het
Birc6 A T 17: 74,938,696 (GRCm39) N2701Y probably damaging Het
Cadps C T 14: 12,509,091 (GRCm38) probably null Het
Camk2a T C 18: 61,113,228 (GRCm39) probably null Het
Capn10 T A 1: 92,872,797 (GRCm39) W508R probably damaging Het
Cntn3 A T 6: 102,397,212 (GRCm39) probably null Het
Crisp4 A G 1: 18,207,231 (GRCm39) V19A probably benign Het
Depdc1b A T 13: 108,493,975 (GRCm39) Y121F probably benign Het
Dsg1b T A 18: 20,542,272 (GRCm39) S926R probably damaging Het
Eml6 A G 11: 29,800,816 (GRCm39) probably null Het
Gm26938 A C 5: 139,794,228 (GRCm39) V117G possibly damaging Het
Keg1 T A 19: 12,696,364 (GRCm39) Y183N probably damaging Het
Mpi A T 9: 57,457,875 (GRCm39) I109N probably damaging Het
Or12j3 C T 7: 139,953,098 (GRCm39) A142T probably benign Het
Or13a20 C T 7: 140,232,827 (GRCm39) H312Y possibly damaging Het
Or14a259 T C 7: 86,012,768 (GRCm39) K259R possibly damaging Het
Or4c112 A G 2: 88,853,519 (GRCm39) V276A probably benign Het
Pcdhb20 A G 18: 37,637,738 (GRCm39) E88G possibly damaging Het
Pde6b G A 5: 108,567,581 (GRCm39) W290* probably null Het
Phf20 T A 2: 156,136,008 (GRCm39) probably null Het
Pkd1l1 A T 11: 8,798,921 (GRCm39) H1830Q probably benign Het
Proc T C 18: 32,256,770 (GRCm39) D299G probably damaging Het
Psmd14 A G 2: 61,630,407 (GRCm39) T306A probably benign Het
Rab32 G A 10: 10,433,591 (GRCm39) A81V probably damaging Het
Samd14 G A 11: 94,912,294 (GRCm39) probably benign Het
Sh3rf1 T A 8: 61,678,993 (GRCm39) C12S probably damaging Het
Sipa1l3 C T 7: 29,023,645 (GRCm39) V663M possibly damaging Het
Slc2a5 A G 4: 150,205,190 (GRCm39) probably benign Het
Tasor T A 14: 27,164,579 (GRCm39) probably null Het
Tbkbp1 T C 11: 97,040,388 (GRCm39) I9V probably damaging Het
Trip10 C A 17: 57,561,332 (GRCm39) R196S possibly damaging Het
Vav1 T C 17: 57,606,176 (GRCm39) Y267H probably benign Het
Wdr1 T C 5: 38,687,410 (GRCm39) K207R probably benign Het
Other mutations in 4930544G11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00698:4930544G11Rik APN 6 65,929,879 (GRCm39) missense probably damaging 1.00
IGL02528:4930544G11Rik APN 6 65,930,357 (GRCm39) utr 3 prime probably benign
IGL02655:4930544G11Rik APN 6 65,930,074 (GRCm39) missense probably damaging 1.00
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 2013-06-21