Incidental Mutation 'IGL00485:E330017A01Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E330017A01Rik
Ensembl Gene ENSMUSG00000055789
Gene NameRIKEN cDNA E330017A01 gene
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL00485
Quality Score
Chromosomal Location58635167-58638739 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58635491 bp
Amino Acid Change Tyrosine to Histidine at position 140 (Y140H)
Ref Sequence ENSEMBL: ENSMUSP00000056475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053249]
Predicted Effect probably damaging
Transcript: ENSMUST00000053249
AA Change: Y140H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000056475
Gene: ENSMUSG00000055789
AA Change: Y140H

Pfam:Ferritin 12 149 3.2e-11 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 G A 11: 97,492,671 probably benign Het
Arhgef37 G A 18: 61,523,871 T41I probably damaging Het
BC030867 C T 11: 102,255,957 S353F possibly damaging Het
Brms1 A C 19: 5,049,042 probably benign Het
Cdkn1a C A 17: 29,098,520 A38E possibly damaging Het
Col4a2 A G 8: 11,439,012 M1133V probably benign Het
Ctps T C 4: 120,552,944 Y314C probably damaging Het
Defa30 T A 8: 21,135,451 M77K probably benign Het
Eif3a T C 19: 60,769,890 R817G unknown Het
Fam189a2 G A 19: 23,984,722 R306W probably damaging Het
Gm13119 G A 4: 144,363,442 V351I probably damaging Het
Greb1l A G 18: 10,555,962 S1725G possibly damaging Het
Hmgxb4 T C 8: 75,029,503 S545P probably damaging Het
Kif13b A G 14: 64,765,073 E1049G possibly damaging Het
Mug1 T C 6: 121,887,416 V1424A probably benign Het
Nlrp2 A G 7: 5,337,548 V89A probably benign Het
Osbpl11 T G 16: 33,241,745 W741G probably damaging Het
Pam A G 1: 97,822,953 V914A possibly damaging Het
Phldb2 T A 16: 45,757,188 I1117F possibly damaging Het
Pign A T 1: 105,597,723 L460* probably null Het
Prdm10 A T 9: 31,327,546 I196F possibly damaging Het
Stk36 T C 1: 74,634,085 S1044P probably benign Het
Trim43b T C 9: 89,091,642 T13A probably benign Het
Unc5b T C 10: 60,783,216 Y49C possibly damaging Het
Urb2 T C 8: 124,028,694 I380T probably damaging Het
Zfyve27 T A 19: 42,183,433 C229S probably benign Het
Other mutations in E330017A01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:E330017A01Rik APN 16 58637696 missense probably benign 0.03
IGL03025:E330017A01Rik APN 16 58637713 missense probably damaging 0.99
R0833:E330017A01Rik UTSW 16 58635523 missense probably damaging 0.96
R0836:E330017A01Rik UTSW 16 58635523 missense probably damaging 0.96
R1213:E330017A01Rik UTSW 16 58637694 nonsense probably null
R5817:E330017A01Rik UTSW 16 58636793 missense probably benign 0.22
R7122:E330017A01Rik UTSW 16 58637777 missense probably benign 0.02
Posted On2012-04-20