Incidental Mutation 'IGL03193:C130074G19Rik'
ID 412715
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C130074G19Rik
Ensembl Gene ENSMUSG00000039349
Gene Name RIKEN cDNA C130074G19 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL03193
Quality Score
Status
Chromosome 1
Chromosomal Location 184604123-184615233 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 184614899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 97 (L97Q)
Ref Sequence ENSEMBL: ENSMUSP00000041904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048308]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000048308
AA Change: L97Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041904
Gene: ENSMUSG00000039349
AA Change: L97Q

DomainStartEndE-ValueType
Pfam:DUF4710 62 134 1.6e-28 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530053G22Rik T C 6: 60,379,137 (GRCm39) noncoding transcript Het
Arhgef12 T C 9: 42,903,829 (GRCm39) probably benign Het
Bmper C A 9: 23,277,544 (GRCm39) H211Q possibly damaging Het
Csmd3 A T 15: 47,492,626 (GRCm39) probably benign Het
Cyb561a3 T C 19: 10,559,764 (GRCm39) Y30H probably benign Het
Cyp2a22 T A 7: 26,635,846 (GRCm39) D239V probably benign Het
Fras1 A T 5: 96,925,965 (GRCm39) Y3723F probably damaging Het
Frem1 C T 4: 82,912,263 (GRCm39) probably benign Het
Gm382 G A X: 125,971,321 (GRCm39) A1169T probably damaging Het
Golga2 T C 2: 32,195,020 (GRCm39) L696P probably damaging Het
Gse1 G T 8: 121,298,079 (GRCm39) probably null Het
Herc1 T C 9: 66,309,962 (GRCm39) L1104P probably benign Het
Myh14 A G 7: 44,279,369 (GRCm39) V945A possibly damaging Het
Myo7a A G 7: 97,740,264 (GRCm39) F577L probably damaging Het
Ndst2 A T 14: 20,779,917 (GRCm39) S108T probably damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Neo1 T C 9: 58,815,767 (GRCm39) Y836C probably damaging Het
Nlrp4e T C 7: 23,020,251 (GRCm39) L246P probably damaging Het
Or52n2 A G 7: 104,542,263 (GRCm39) C191R probably benign Het
Osbpl9 A G 4: 108,924,163 (GRCm39) S471P possibly damaging Het
Patl1 T A 19: 11,898,204 (GRCm39) D127E possibly damaging Het
Pla2g6 G A 15: 79,201,985 (GRCm39) P62L probably damaging Het
Prlr T A 15: 10,328,376 (GRCm39) S284T possibly damaging Het
Prps2 A T X: 166,157,080 (GRCm39) N75K possibly damaging Het
Sec16b A T 1: 157,362,963 (GRCm39) M265L probably benign Het
Slc9a2 G T 1: 40,795,431 (GRCm39) V511L probably benign Het
Tm9sf5 A G X: 56,463,503 (GRCm39) probably benign Het
Tnp1 G A 1: 73,054,923 (GRCm39) R34W probably damaging Het
Tpr A G 1: 150,315,831 (GRCm39) D2036G possibly damaging Het
Trpm6 T C 19: 18,803,236 (GRCm39) V893A possibly damaging Het
Tshb T C 3: 102,685,515 (GRCm39) Y38C probably damaging Het
Usp17lb A T 7: 104,490,484 (GRCm39) S148T possibly damaging Het
Other mutations in C130074G19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02966:C130074G19Rik APN 1 184,614,943 (GRCm39) missense probably damaging 0.99
R0008:C130074G19Rik UTSW 1 184,615,119 (GRCm39) missense probably benign 0.02
R0798:C130074G19Rik UTSW 1 184,614,873 (GRCm39) splice site probably benign
R1512:C130074G19Rik UTSW 1 184,615,103 (GRCm39) missense probably damaging 1.00
R1957:C130074G19Rik UTSW 1 184,615,095 (GRCm39) missense probably benign
R2351:C130074G19Rik UTSW 1 184,615,060 (GRCm39) missense probably benign 0.03
R7246:C130074G19Rik UTSW 1 184,615,166 (GRCm39) missense probably damaging 0.99
R7478:C130074G19Rik UTSW 1 184,606,624 (GRCm39) missense probably damaging 1.00
R7950:C130074G19Rik UTSW 1 184,606,571 (GRCm39) splice site probably null
R8694:C130074G19Rik UTSW 1 184,615,184 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02