Incidental Mutation 'IGL00672:C130032M10Rik'
ID 14582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C130032M10Rik
Ensembl Gene ENSMUSG00000097821
Gene Name RIKEN cDNA C130032M10 gene
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL00672
Quality Score
Status
Chromosome 9
Chromosomal Location 114344765-114345669 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114344898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 340 (V340A)
Ref Sequence ENSEMBL: ENSMUSP00000107447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111816] [ENSMUST00000180393]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000111816
AA Change: V340A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107447
Gene: ENSMUSG00000079259
AA Change: V340A

DomainStartEndE-ValueType
RING 12 93 7.16e-6 SMART
low complexity region 129 176 N/A INTRINSIC
BBOX 181 230 1.49e-1 SMART
BBOX 260 301 4.54e-8 SMART
Blast:BBC 325 433 1e-9 BLAST
IG_FLMN 470 570 5.04e-24 SMART
Pfam:NHL 593 620 2.9e-12 PFAM
Pfam:NHL 640 667 1.8e-9 PFAM
Pfam:NHL 687 714 4.4e-12 PFAM
Pfam:NHL 734 761 1.4e-10 PFAM
Pfam:NHL 781 808 4.4e-12 PFAM
Pfam:NHL 828 855 8.3e-10 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000180393
AA Change: T45A
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik A G 9: 50,657,736 (GRCm39) probably benign Het
Adamts20 A G 15: 94,238,986 (GRCm39) I744T probably damaging Het
Akap11 G A 14: 78,748,781 (GRCm39) A1202V probably damaging Het
Csnk1g1 G T 9: 65,915,028 (GRCm39) S229I probably damaging Het
E130308A19Rik A G 4: 59,719,697 (GRCm39) S410G probably benign Het
Eif2s2 T A 2: 154,729,629 (GRCm39) I98L probably benign Het
En1 T C 1: 120,534,667 (GRCm39) F319L unknown Het
Fmnl3 A T 15: 99,223,562 (GRCm39) Y345N probably damaging Het
Fras1 T C 5: 96,907,309 (GRCm39) probably benign Het
Gm12695 A G 4: 96,637,419 (GRCm39) L366P probably damaging Het
Golga3 T C 5: 110,360,110 (GRCm39) L1156S probably damaging Het
Gpcpd1 G T 2: 132,372,468 (GRCm39) probably benign Het
Hvcn1 C A 5: 122,376,534 (GRCm39) F155L probably benign Het
Jcad T C 18: 4,674,835 (GRCm39) S866P possibly damaging Het
Kdm4c A G 4: 74,261,751 (GRCm39) N642S probably benign Het
Kif2c T C 4: 117,035,443 (GRCm39) I2V probably benign Het
Klri2 T A 6: 129,710,034 (GRCm39) I189F probably damaging Het
Lair1 T A 7: 4,031,730 (GRCm39) T126S probably benign Het
Lins1 A T 7: 66,364,279 (GRCm39) K725* probably null Het
Lman2l T A 1: 36,477,915 (GRCm39) probably null Het
Map3k10 T C 7: 27,361,026 (GRCm39) K496E probably damaging Het
Nr2f2 A G 7: 70,007,514 (GRCm39) S170P possibly damaging Het
Polr1b G A 2: 128,967,392 (GRCm39) M928I probably damaging Het
Rffl G A 11: 82,709,310 (GRCm39) P38S probably damaging Het
Rtl1 T C 12: 109,559,434 (GRCm39) S802G probably benign Het
Sema5a A G 15: 32,619,026 (GRCm39) E518G probably benign Het
Smdt1 G A 15: 82,230,384 (GRCm39) V34I possibly damaging Het
Ssr3 C A 3: 65,298,831 (GRCm39) A59S probably benign Het
Stk4 A G 2: 163,959,999 (GRCm39) K59E probably benign Het
Syne2 C T 12: 76,110,958 (GRCm39) T1024M probably damaging Het
Taf5 A T 19: 47,070,740 (GRCm39) D723V probably damaging Het
Tescl T C 7: 24,033,035 (GRCm39) T97A probably benign Het
Thada A T 17: 84,751,646 (GRCm39) S443R probably benign Het
Trp53bp2 A T 1: 182,268,541 (GRCm39) H205L probably benign Het
Ube4b A G 4: 149,465,823 (GRCm39) V209A probably benign Het
Zfp957 G T 14: 79,450,838 (GRCm39) D320E unknown Het
Zfr2 T C 10: 81,077,919 (GRCm39) S249P probably damaging Het
Zmpste24 A G 4: 120,923,057 (GRCm39) I386T probably damaging Het
Other mutations in C130032M10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7915:C130032M10Rik UTSW 9 114,345,123 (GRCm39) missense unknown
Posted On 2012-12-06