Incidental Mutation 'IGL01979:Ero1l'
ID181805
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ero1l
Ensembl Gene ENSMUSG00000021831
Gene NameERO1-like (S. cerevisiae)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.228) question?
Stock #IGL01979
Quality Score
Status
Chromosome14
Chromosomal Location45283087-45318771 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 45287744 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 441 (N441K)
Ref Sequence ENSEMBL: ENSMUSP00000022378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022378]
Predicted Effect probably damaging
Transcript: ENSMUST00000022378
AA Change: N441K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022378
Gene: ENSMUSG00000021831
AA Change: N441K

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:ERO1 60 453 3.7e-128 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000227147
AA Change: N226K
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the endoplasmic reticulum oxidoreductin family. The encoded protein is localized to the endoplasmic reticulum and promotes the formation of disulfide bonds by oxidizing protein disulfide isomerase. This gene may play a role in endoplasmic reticulum stress-induced apoptosis and the cellular response to hypoxia. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit decreased apoptosis and calcium release in macrophages exposed to endoplasmic reticulum stress. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930435E12Rik A C 16: 38,827,893 S285A possibly damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Ap3b1 T A 13: 94,448,463 L394* probably null Het
Cdk2ap1 C T 5: 124,348,709 V57M probably damaging Het
Csnk2b T A 17: 35,118,016 N65I possibly damaging Het
Dennd4a G A 9: 64,894,409 E945K probably benign Het
Eif2b2 A G 12: 85,219,834 D59G probably benign Het
Fam91a1 A G 15: 58,432,584 D383G probably damaging Het
Fbxl7 C A 15: 26,789,563 S26I probably damaging Het
Il20 A T 1: 130,911,102 I42K probably damaging Het
Nav3 A G 10: 109,704,929 F1947L probably benign Het
Ncapd3 T A 9: 27,071,965 probably null Het
Numb G T 12: 83,842,277 H23N probably damaging Het
Olfr1419 G A 19: 11,871,223 probably benign Het
Olfr507 A G 7: 108,622,441 I210V probably benign Het
Ppp1r1b C T 11: 98,356,840 T111I probably damaging Het
Rad50 G A 11: 53,686,178 Q528* probably null Het
Scara3 A T 14: 65,930,963 S402T probably benign Het
Sept3 A G 15: 82,284,392 Y132C probably damaging Het
Sim2 C A 16: 94,123,482 N495K possibly damaging Het
Slc9b1 A G 3: 135,371,982 probably null Het
Tanc2 A G 11: 105,776,920 D109G probably benign Het
Traf1 T C 2: 34,943,893 I404V probably benign Het
Vmn2r68 C A 7: 85,222,117 V653L probably benign Het
Wdr93 A T 7: 79,776,652 Q555L probably benign Het
Other mutations in Ero1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Ero1l APN 14 45303586 missense probably benign 0.19
IGL01672:Ero1l APN 14 45292430 missense probably benign 0.05
IGL01914:Ero1l APN 14 45306612 missense probably damaging 1.00
IGL02302:Ero1l APN 14 45293162 missense probably benign 0.34
IGL03351:Ero1l APN 14 45294533 missense probably benign
R0844:Ero1l UTSW 14 45293000 missense probably damaging 1.00
R1696:Ero1l UTSW 14 45299935 missense probably damaging 1.00
R1828:Ero1l UTSW 14 45287760 missense probably damaging 1.00
R2410:Ero1l UTSW 14 45305266 missense possibly damaging 0.89
R2504:Ero1l UTSW 14 45299088 splice site probably null
R3415:Ero1l UTSW 14 45287866 missense possibly damaging 0.91
R3417:Ero1l UTSW 14 45287866 missense possibly damaging 0.91
R4074:Ero1l UTSW 14 45292436 splice site probably null
R6369:Ero1l UTSW 14 45299958 missense probably damaging 0.99
R6899:Ero1l UTSW 14 45292939 missense probably benign 0.00
R7052:Ero1l UTSW 14 45306583 nonsense probably null
R7064:Ero1l UTSW 14 45306592 missense probably damaging 0.96
R7516:Ero1l UTSW 14 45288023 missense probably benign 0.06
R7520:Ero1l UTSW 14 45306575 missense probably damaging 1.00
R8326:Ero1l UTSW 14 45294348 missense probably damaging 1.00
Z1176:Ero1l UTSW 14 45299890 missense probably damaging 0.99
Posted On2014-05-07