Incidental Mutation 'IGL00485:E330017A01Rik'
ID 5788
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E330017A01Rik
Ensembl Gene ENSMUSG00000055789
Gene Name RIKEN cDNA E330017A01 gene
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL00485
Quality Score
Chromosome 16
Chromosomal Location 58635167-58638739 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58635491 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 140 (Y140H)
Ref Sequence ENSEMBL: ENSMUSP00000056475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053249]
AlphaFold Q8BU47
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
R9441:E330017A01Rik UTSW 16 58638521 start gained probably benign
Posted On 2012-04-20