Incidental Mutation 'IGL00233:C030048H21Rik'
ID 306831
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 # IGL00233
Quality Score
Status
Chromosome 2
Chromosomal Location 26133481-26136719 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 26146632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 1227 (R1227W)
Ref Sequence ENSEMBL: ENSMUSP00000153797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000217256] [ENSMUST00000227200]
AlphaFold no structure available at present
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000217256
AA Change: R1188W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000227200
AA Change: R1227W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aimp1 A T 3: 132,382,904 (GRCm39) probably benign Het
Arpc5 A G 1: 152,644,658 (GRCm39) I64V probably benign Het
Cacnb1 T C 11: 97,913,190 (GRCm39) E21G possibly damaging Het
Catsper3 A G 13: 55,946,635 (GRCm39) K111E possibly damaging Het
Cda T C 4: 138,095,157 (GRCm39) Y33C probably damaging Het
Celsr3 A T 9: 108,726,124 (GRCm39) R3118W probably damaging Het
Clvs1 G A 4: 9,281,939 (GRCm39) G128R probably damaging Het
Col9a1 A G 1: 24,224,306 (GRCm39) S163G unknown Het
Cyp4v3 T C 8: 45,760,040 (GRCm39) D64G probably benign Het
Dst C A 1: 34,290,920 (GRCm39) L837M probably damaging Het
Eif2ak4 T A 2: 118,294,536 (GRCm39) I1349N probably damaging Het
Elob C A 17: 24,043,954 (GRCm39) probably null Het
Glipr1 T A 10: 111,821,555 (GRCm39) I216L probably benign Het
Gm3238 C T 10: 77,607,126 (GRCm39) probably benign Het
Gm43638 C T 5: 87,608,258 (GRCm39) R527H probably damaging Het
H2-M11 A G 17: 36,858,445 (GRCm39) K80E probably benign Het
Htt A G 5: 35,053,370 (GRCm39) probably null Het
Kif26a A G 12: 112,124,066 (GRCm39) S224G probably damaging Het
Mgat5b T A 11: 116,822,488 (GRCm39) M74K probably damaging Het
Ms4a7 A T 19: 11,299,724 (GRCm39) V89D probably damaging Het
Nlrx1 G A 9: 44,175,365 (GRCm39) T137I probably benign Het
Pcdhb12 A G 18: 37,570,035 (GRCm39) T394A probably benign Het
Pkhd1l1 T C 15: 44,340,982 (GRCm39) I151T probably damaging Het
Plcl1 T C 1: 55,445,695 (GRCm39) V50A probably benign Het
Prkd2 T C 7: 16,599,787 (GRCm39) F750S probably damaging Het
Psmd13 T C 7: 140,477,534 (GRCm39) V311A probably damaging Het
Rec8 C T 14: 55,860,972 (GRCm39) Q334* probably null Het
Rfx7 G A 9: 72,514,972 (GRCm39) V157I probably damaging Het
Sele G A 1: 163,879,403 (GRCm39) C312Y probably damaging Het
Sorcs3 A G 19: 48,736,758 (GRCm39) T694A probably benign Het
Tma16 G T 8: 66,933,097 (GRCm39) Q95K probably benign Het
Vmn1r191 T C 13: 22,362,890 (GRCm39) D288G probably damaging Het
Vmn1r231 A T 17: 21,110,828 (GRCm39) I29N possibly damaging Het
Vmn2r1 T A 3: 64,012,389 (GRCm39) L750* probably null Het
Other mutations in C030048H21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01380:C030048H21Rik APN 2 26,146,659 (GRCm39) nonsense probably null
IGL01723:C030048H21Rik APN 2 26,144,780 (GRCm39) missense possibly damaging 0.83
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 2015-04-16