Incidental Mutation 'IGL01723:C030048H21Rik'
ID 105185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C030048H21Rik
Ensembl Gene ENSMUSG00000079537
Gene Name RIKEN cDNA C030048H21 gene
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL01723
Quality Score
Status
Chromosome 2
Chromosomal Location 26133481-26136719 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26144780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1316 (S1316P)
Ref Sequence ENSEMBL: ENSMUSP00000153797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000217256] [ENSMUST00000227200]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000137586
AA Change: S134P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217256
AA Change: S1277P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227200
AA Change: S1316P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,353,327 (GRCm39) A705V probably benign Het
Abcc10 A T 17: 46,624,671 (GRCm39) C728S probably damaging Het
Alms1 G A 6: 85,605,076 (GRCm39) R1773Q probably benign Het
Cd86 A G 16: 36,427,486 (GRCm39) L281S probably benign Het
Cdon C T 9: 35,414,634 (GRCm39) P1170S probably benign Het
Col11a2 T A 17: 34,280,254 (GRCm39) probably benign Het
Cspg4b A T 13: 113,504,091 (GRCm39) Q198L possibly damaging Het
Cyp2j12 A G 4: 95,990,363 (GRCm39) V401A possibly damaging Het
Cyp7a1 A T 4: 6,272,442 (GRCm39) I257N probably damaging Het
Ddhd2 A T 8: 26,225,038 (GRCm39) L593* probably null Het
Dnah8 T C 17: 30,927,445 (GRCm39) L1367S probably damaging Het
Dsg4 G A 18: 20,599,567 (GRCm39) V728M probably damaging Het
Dsp G A 13: 38,363,060 (GRCm39) V447M probably damaging Het
Epx C T 11: 87,760,228 (GRCm39) R462H probably damaging Het
Fgf18 T C 11: 33,084,332 (GRCm39) T41A probably damaging Het
Fh1 G T 1: 175,429,108 (GRCm39) A469D probably damaging Het
Hcn1 A C 13: 118,112,591 (GRCm39) S852R probably damaging Het
Hmcn1 A T 1: 150,620,711 (GRCm39) S1166R probably benign Het
Krt78 C T 15: 101,860,233 (GRCm39) G228S possibly damaging Het
Lrrn4 T C 2: 132,711,981 (GRCm39) E614G possibly damaging Het
Mettl9 T C 7: 120,651,492 (GRCm39) I180T possibly damaging Het
Mgat2 A G 12: 69,232,415 (GRCm39) T330A probably damaging Het
Mtcl2 T C 2: 156,872,534 (GRCm39) M938V probably benign Het
Myh13 T C 11: 67,260,045 (GRCm39) probably benign Het
Nipbl G A 15: 8,364,555 (GRCm39) T1283I possibly damaging Het
Nxpe4 A G 9: 48,309,898 (GRCm39) D387G probably benign Het
Or1e23 T A 11: 73,407,452 (GRCm39) D191V probably damaging Het
Or5aq1 A G 2: 86,965,822 (GRCm39) V281A probably benign Het
Pcdhb5 T G 18: 37,454,075 (GRCm39) S152A probably benign Het
Pcnt C T 10: 76,254,333 (GRCm39) R832H possibly damaging Het
Ptprd A C 4: 76,161,910 (GRCm39) S108R probably damaging Het
Ryr3 C T 2: 112,480,456 (GRCm39) probably null Het
Slc22a4 C T 11: 53,879,671 (GRCm39) V463M probably benign Het
Ttn T A 2: 76,560,746 (GRCm39) L29218F probably damaging Het
Ttn A T 2: 76,560,748 (GRCm39) L29218I probably damaging Het
Vmn2r44 T A 7: 8,380,915 (GRCm39) H326L probably damaging Het
Vps13d A T 4: 144,899,715 (GRCm39) M188K possibly damaging Het
Other mutations in C030048H21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:C030048H21Rik APN 2 26,146,632 (GRCm39) missense probably damaging 0.98
IGL01380:C030048H21Rik APN 2 26,146,659 (GRCm39) nonsense probably null
IGL03186:C030048H21Rik APN 2 26,143,350 (GRCm39) critical splice donor site probably null
R1515:C030048H21Rik UTSW 2 26,147,515 (GRCm39) splice site probably null
R4460:C030048H21Rik UTSW 2 26,145,875 (GRCm39) critical splice donor site probably null
R5517:C030048H21Rik UTSW 2 26,145,899 (GRCm39) missense probably damaging 0.99
Posted On 2014-01-21