Incidental Mutation 'IGL00895:E330017A01Rik'
ID 29125
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E330017A01Rik
Ensembl Gene ENSMUSG00000055789
Gene Name RIKEN cDNA E330017A01 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL00895
Quality Score
Status
Chromosome 16
Chromosomal Location 58635167-58638739 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58637696 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 81 (Y81N)
Ref Sequence ENSEMBL: ENSMUSP00000056475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053249]
AlphaFold Q8BU47
Predicted Effect probably benign
Transcript: ENSMUST00000053249
AA Change: Y81N

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000056475
Gene: ENSMUSG00000055789
AA Change: Y81N

DomainStartEndE-ValueType
Pfam:Ferritin 12 149 3.2e-11 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl6ip6 T A 2: 53,202,924 W154R probably damaging Het
Ccnc T A 4: 21,742,642 Y156* probably null Het
Clca1 A C 3: 145,024,596 W163G probably damaging Het
Cntnap5b C T 1: 100,383,585 T972I probably damaging Het
Cpn2 C T 16: 30,260,520 S121N probably benign Het
Dcc T C 18: 71,810,800 E260G probably damaging Het
Dnah6 A T 6: 73,156,350 N1091K possibly damaging Het
Dpp9 G T 17: 56,205,240 F249L probably damaging Het
Dscaml1 A G 9: 45,751,253 D1839G probably damaging Het
Esr1 C T 10: 4,997,890 R481L probably benign Het
Frem2 G T 3: 53,585,595 D1833E probably damaging Het
Ica1 T C 6: 8,653,514 D343G probably benign Het
Il27 T C 7: 126,589,383 H206R probably benign Het
Med14 A G X: 12,680,800 V723A probably damaging Het
Msh3 C A 13: 92,344,964 G347C probably damaging Het
Nfasc T A 1: 132,573,798 K1262* probably null Het
Nlrp9a A T 7: 26,558,678 M485L probably benign Het
Olfr1216 A G 2: 89,013,609 F152L probably benign Het
Olfr1313 A G 2: 112,071,755 V276A probably damaging Het
Pcdhb5 T G 18: 37,320,983 L139V probably benign Het
Rbfox1 A T 16: 7,369,834 K43N probably benign Het
Scn5a G T 9: 119,513,104 probably null Het
Senp7 G T 16: 56,082,377 R21L probably damaging Het
Ssb G A 2: 69,866,262 V47I probably benign Het
Ttll8 T A 15: 88,933,528 S221C probably damaging Het
Other mutations in E330017A01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:E330017A01Rik APN 16 58635491 missense probably damaging 0.99
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 On 2013-04-17