Incidental Mutation 'IGL03025:E330017A01Rik'
ID 408134
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 # IGL03025
Quality Score
Status
Chromosome 16
Chromosomal Location 58635167-58638739 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 58637713 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 75 (I75S)
Ref Sequence ENSEMBL: ENSMUSP00000056475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053249]
AlphaFold Q8BU47
Predicted Effect probably damaging
Transcript: ENSMUST00000053249
AA Change: I75S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000056475
Gene: ENSMUSG00000055789
AA Change: I75S

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,473,485 N91S possibly damaging Het
Adora1 T C 1: 134,203,069 Y288C probably damaging Het
Avil A T 10: 127,013,577 T581S probably benign Het
Cacna1h C T 17: 25,432,894 W92* probably null Het
Calr3 A C 8: 72,434,891 probably benign Het
Cdan1 T C 2: 120,730,741 E181G probably damaging Het
Clca4a T C 3: 144,957,318 N590S probably benign Het
Cnga1 T A 5: 72,605,413 I253F probably benign Het
Cngb3 T G 4: 19,283,498 probably benign Het
Cstf3 T A 2: 104,608,931 Y30N possibly damaging Het
Cyp2a12 T A 7: 27,031,206 S199T probably benign Het
Dlg1 A G 16: 31,805,727 I412V probably benign Het
Fasn C T 11: 120,818,148 V570M probably benign Het
Fhit A G 14: 10,421,534 S85P probably damaging Het
Frmd5 T A 2: 121,553,344 M369L probably benign Het
Gatb T C 3: 85,575,874 W63R probably damaging Het
Gga1 G T 15: 78,888,182 L227F probably damaging Het
Itgb1 A G 8: 128,722,584 N557S possibly damaging Het
Ltf T C 9: 111,025,101 V328A possibly damaging Het
Nefh T C 11: 4,945,289 E300G probably damaging Het
Nrip1 A G 16: 76,294,465 V68A probably benign Het
Olfr24 T C 9: 18,755,369 N89D probably benign Het
Pcdhb13 T G 18: 37,442,764 V65G probably damaging Het
Pcdhb4 A T 18: 37,309,977 Y780F possibly damaging Het
Plcd3 C T 11: 103,074,898 E503K probably benign Het
Rbm6 T A 9: 107,774,719 D903V possibly damaging Het
Rnf133 A G 6: 23,649,135 M265T probably benign Het
Sbf1 T C 15: 89,289,645 T1775A probably damaging Het
Serpina1f T A 12: 103,693,546 D159V probably damaging Het
Skap1 C A 11: 96,702,682 S118R probably damaging Het
Slc17a9 C A 2: 180,739,816 probably null Het
Slc30a5 A G 13: 100,813,887 S231P probably damaging Het
Stac2 A G 11: 98,043,722 F52S probably damaging Het
Them7 T C 2: 105,297,805 S44P probably benign Het
Tnmd A G X: 133,865,413 probably benign Het
Trdmt1 A T 2: 13,523,435 I105N probably damaging Het
Trpc1 C T 9: 95,710,260 G554E probably damaging Het
Vmn1r37 A G 6: 66,731,756 Y85C probably benign Het
Zim1 T C 7: 6,682,059 T131A probably benign Het
Other mutations in E330017A01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:E330017A01Rik APN 16 58635491 missense probably damaging 0.99
IGL00895:E330017A01Rik APN 16 58637696 missense probably benign 0.03
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 2016-08-02