Incidental Mutation 'IGL00233:C030048H21Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C030048H21Rik
Ensembl Gene ENSMUSG00000079537
Gene NameRIKEN cDNA C030048H21 gene
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00233
Quality Score
Chromosomal Location26251757-26257554 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 26256620 bp
Amino Acid Change Arginine to Tryptophan at position 1227 (R1227W)
Ref Sequence ENSEMBL: ENSMUSP00000153797 (fasta)
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: 132,677,143 probably benign Het
Arpc5 A G 1: 152,768,907 I64V probably benign Het
Cacnb1 T C 11: 98,022,364 E21G possibly damaging Het
Catsper3 A G 13: 55,798,822 K111E possibly damaging Het
Cda T C 4: 138,367,846 Y33C probably damaging Het
Celsr3 A T 9: 108,848,925 R3118W probably damaging Het
Clvs1 G A 4: 9,281,939 G128R probably damaging Het
Col9a1 A G 1: 24,185,225 S163G unknown Het
Cyp4v3 T C 8: 45,307,003 D64G probably benign Het
Dst C A 1: 34,251,839 L837M probably damaging Het
Eif2ak4 T A 2: 118,464,055 I1349N probably damaging Het
Elob C A 17: 23,824,980 probably null Het
Glipr1 T A 10: 111,985,650 I216L probably benign Het
Gm3238 C T 10: 77,771,292 probably benign Het
Gm43638 C T 5: 87,460,399 R527H probably damaging Het
H2-M11 A G 17: 36,547,553 K80E probably benign Het
Htt A G 5: 34,896,026 probably null Het
Kif26a A G 12: 112,157,632 S224G probably damaging Het
Mgat5b T A 11: 116,931,662 M74K probably damaging Het
Ms4a7 A T 19: 11,322,360 V89D probably damaging Het
Nlrx1 G A 9: 44,264,068 T137I probably benign Het
Pcdhb12 A G 18: 37,436,982 T394A probably benign Het
Pkhd1l1 T C 15: 44,477,586 I151T probably damaging Het
Plcl1 T C 1: 55,406,536 V50A probably benign Het
Prkd2 T C 7: 16,865,862 F750S probably damaging Het
Psmd13 T C 7: 140,897,621 V311A probably damaging Het
Rec8 C T 14: 55,623,515 Q334* probably null Het
Rfx7 G A 9: 72,607,690 V157I probably damaging Het
Sele G A 1: 164,051,834 C312Y probably damaging Het
Sorcs3 A G 19: 48,748,319 T694A probably benign Het
Tma16 G T 8: 66,480,445 Q95K probably benign Het
Vmn1r191 T C 13: 22,178,720 D288G probably damaging Het
Vmn1r231 A T 17: 20,890,566 I29N possibly damaging Het
Vmn2r1 T A 3: 64,104,968 L750* probably null Het
Other mutations in C030048H21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01380:C030048H21Rik APN 2 26256647 nonsense probably null
IGL01723:C030048H21Rik APN 2 26254768 missense possibly damaging 0.83
IGL03186:C030048H21Rik APN 2 26253338 critical splice donor site probably null
R1515:C030048H21Rik UTSW 2 26257503 splice site probably null
R4460:C030048H21Rik UTSW 2 26255863 critical splice donor site probably null
R5517:C030048H21Rik UTSW 2 26255887 missense probably damaging 0.99
Posted On2015-04-16