Incidental Mutation 'R6369:Ero1a'
ID 512867
Institutional Source Beutler Lab
Gene Symbol Ero1a
Ensembl Gene ENSMUSG00000021831
Gene Name endoplasmic reticulum oxidoreductase 1 alpha
Synonyms Ero1l
MMRRC Submission 044519-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R6369 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 45283087-45318771 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45299958 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 170 (I170M)
Ref Sequence ENSEMBL: ENSMUSP00000022378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022378]
AlphaFold Q8R180
Predicted Effect probably damaging
Transcript: ENSMUST00000022378
AA Change: I170M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022378
Gene: ENSMUSG00000021831
AA Change: I170M

low complexity region 2 21 N/A INTRINSIC
Pfam:ERO1 60 453 3.7e-128 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227147
Predicted Effect probably benign
Transcript: ENSMUST00000227315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228564
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228836
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn C T 17: 13,835,343 (GRCm38) R571* probably null Het
Asb18 A T 1: 90,014,471 (GRCm38) I36N probably damaging Het
Ascc3 G A 10: 50,699,985 (GRCm38) G779S probably damaging Het
Atl2 T C 17: 79,854,555 (GRCm38) Q205R probably damaging Het
Axdnd1 A G 1: 156,392,745 (GRCm38) I235T probably damaging Het
Bri3bp A G 5: 125,454,701 (GRCm38) N237S probably damaging Het
Ccdc191 A G 16: 43,915,485 (GRCm38) N256S probably benign Het
Cchcr1 T C 17: 35,528,176 (GRCm38) I474T probably damaging Het
Cd209c T C 8: 3,944,984 (GRCm38) Y60C probably damaging Het
Cd300c C A 11: 114,957,555 (GRCm38) D171Y probably damaging Het
Crb1 C T 1: 139,237,462 (GRCm38) V975M probably damaging Het
Csmd1 C T 8: 17,535,004 (GRCm38) probably benign Het
Ctnna2 A G 6: 76,980,695 (GRCm38) S524P possibly damaging Het
Eno1 T C 4: 150,239,568 (GRCm38) probably null Het
Fam186a A G 15: 99,947,331 (GRCm38) M344T unknown Het
Frem1 A T 4: 82,913,792 (GRCm38) probably null Het
Gjb5 G T 4: 127,355,930 (GRCm38) D140E possibly damaging Het
Gm11595 G A 11: 99,772,555 (GRCm38) R100C unknown Het
Hk2 G T 6: 82,736,753 (GRCm38) S449R probably damaging Het
Hs3st3a1 A T 11: 64,520,601 (GRCm38) I322F probably benign Het
Itga1 T C 13: 114,965,660 (GRCm38) I1145V probably damaging Het
Kcp A G 6: 29,484,694 (GRCm38) L1295S probably damaging Het
Macf1 T C 4: 123,410,562 (GRCm38) D49G possibly damaging Het
Mef2b T A 8: 70,165,559 (GRCm38) D96E probably benign Het
Megf10 A T 18: 57,261,187 (GRCm38) D461V probably benign Het
Myom1 T C 17: 71,101,076 (GRCm38) S1104P probably damaging Het
Nab1 A G 1: 52,490,222 (GRCm38) L172P probably damaging Het
Or2g1 T G 17: 37,795,496 (GRCm38) D17E probably benign Het
Pate1 A G 9: 35,687,028 (GRCm38) V18A probably benign Het
Pink1 T C 4: 138,320,734 (GRCm38) probably null Het
Pnpla1 T A 17: 28,878,481 (GRCm38) I207N probably damaging Het
Ppp1r12b T C 1: 134,886,542 (GRCm38) E341G possibly damaging Het
Ppp1r21 C A 17: 88,582,412 (GRCm38) probably null Het
Rad52 A G 6: 119,914,207 (GRCm38) E76G unknown Het
Rad54l A G 4: 116,111,189 (GRCm38) probably null Het
Rasgrf2 T C 13: 92,131,446 (GRCm38) M17V probably benign Het
Rbm42 A G 7: 30,641,313 (GRCm38) M411T unknown Het
Reln A G 5: 22,051,361 (GRCm38) I495T probably benign Het
Rnf224 A G 2: 25,235,942 (GRCm38) F133S probably damaging Het
Rrm1 C A 7: 102,446,702 (GRCm38) H87Q probably damaging Het
Sec14l2 T C 11: 4,103,962 (GRCm38) D235G possibly damaging Het
Serpinb3d G T 1: 107,080,753 (GRCm38) N127K probably benign Het
Skint7 A T 4: 111,980,293 (GRCm38) E89D probably benign Het
Slc22a5 T G 11: 53,891,370 (GRCm38) N57T probably damaging Het
Smarcd3 A T 5: 24,594,984 (GRCm38) F263I probably damaging Het
Sncaip A G 18: 52,868,604 (GRCm38) I66V probably damaging Het
Syngr1 A C 15: 80,115,590 (GRCm38) probably benign Het
Tbc1d2 A G 4: 46,614,420 (GRCm38) Y554H probably benign Het
Tmem198 T C 1: 75,479,743 (GRCm38) V44A probably benign Het
Trappc11 T C 8: 47,512,285 (GRCm38) probably null Het
Uox C T 3: 146,624,577 (GRCm38) R163* probably null Het
Vmn2r111 C T 17: 22,548,602 (GRCm38) C638Y probably damaging Het
Washc4 A G 10: 83,574,444 (GRCm38) Y632C probably damaging Het
Zfp212 T C 6: 47,930,897 (GRCm38) V270A probably benign Het
Zfp92 G A X: 73,421,968 (GRCm38) R189H possibly damaging Homo
Other mutations in Ero1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Ero1a APN 14 45,303,586 (GRCm38) missense probably benign 0.19
IGL01672:Ero1a APN 14 45,292,430 (GRCm38) missense probably benign 0.05
IGL01914:Ero1a APN 14 45,306,612 (GRCm38) missense probably damaging 1.00
IGL01979:Ero1a APN 14 45,287,744 (GRCm38) missense probably damaging 1.00
IGL02302:Ero1a APN 14 45,293,162 (GRCm38) missense probably benign 0.34
IGL03351:Ero1a APN 14 45,294,533 (GRCm38) missense probably benign
R0844:Ero1a UTSW 14 45,293,000 (GRCm38) missense probably damaging 1.00
R1696:Ero1a UTSW 14 45,299,935 (GRCm38) missense probably damaging 1.00
R1828:Ero1a UTSW 14 45,287,760 (GRCm38) missense probably damaging 1.00
R2410:Ero1a UTSW 14 45,305,266 (GRCm38) missense possibly damaging 0.89
R2504:Ero1a UTSW 14 45,299,088 (GRCm38) splice site probably null
R3415:Ero1a UTSW 14 45,287,866 (GRCm38) missense possibly damaging 0.91
R3417:Ero1a UTSW 14 45,287,866 (GRCm38) missense possibly damaging 0.91
R4074:Ero1a UTSW 14 45,292,436 (GRCm38) splice site probably null
R6899:Ero1a UTSW 14 45,292,939 (GRCm38) missense probably benign 0.00
R7052:Ero1a UTSW 14 45,306,583 (GRCm38) nonsense probably null
R7064:Ero1a UTSW 14 45,306,592 (GRCm38) missense probably damaging 0.96
R7516:Ero1a UTSW 14 45,288,023 (GRCm38) missense probably benign 0.06
R7520:Ero1a UTSW 14 45,306,575 (GRCm38) missense probably damaging 1.00
R8326:Ero1a UTSW 14 45,294,348 (GRCm38) missense probably damaging 1.00
R9201:Ero1a UTSW 14 45,287,757 (GRCm38) missense probably damaging 0.99
R9735:Ero1a UTSW 14 45,295,978 (GRCm38) missense possibly damaging 0.85
Z1176:Ero1a UTSW 14 45,299,890 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-04-27