Incidental Mutation 'IGL03351:Ero1l'
ID 419725
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ero1l
Ensembl Gene ENSMUSG00000021831
Gene Name ERO1-like (S. cerevisiae)
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.318) question?
Stock # IGL03351
Quality Score
Status
Chromosome 14
Chromosomal Location 45283087-45318771 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 45294533 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 227 (N227K)
Ref Sequence ENSEMBL: ENSMUSP00000022378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022378]
AlphaFold Q8R180
Predicted Effect probably benign
Transcript: ENSMUST00000022378
AA Change: N227K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022378
Gene: ENSMUSG00000021831
AA Change: N227K

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: N12K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228564
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228836
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550L24Rik G A X: 58,918,937 V19I probably benign Het
4932414N04Rik T A 2: 68,731,083 D251E probably benign Het
4932415D10Rik T C 10: 82,283,567 probably benign Het
5730460C07Rik C T 3: 153,789,958 noncoding transcript Het
Coch G A 12: 51,603,206 R326Q probably benign Het
Cpa3 A G 3: 20,215,962 V366A probably benign Het
Csf1r C T 18: 61,117,108 Q382* probably null Het
Csta1 C A 16: 36,131,041 G4* probably null Het
Cts7 T C 13: 61,356,603 R49G probably damaging Het
Dlg5 A G 14: 24,170,454 V575A probably benign Het
Faap24 G T 7: 35,395,309 C58* probably null Het
Gm13089 G A 4: 143,697,088 T377I possibly damaging Het
Hfm1 G A 5: 106,911,575 Q194* probably null Het
Hs3st5 T A 10: 36,833,323 Y285N probably damaging Het
Hyal6 G A 6: 24,743,429 G375R probably damaging Het
Itgb5 T C 16: 33,910,552 S93P probably benign Het
Kcnj6 A T 16: 94,832,583 M205K probably damaging Het
Kdm6a C T X: 18,247,104 Q92* probably null Het
Klhl38 A G 15: 58,323,330 M1T probably null Het
Krtap7-1 T C 16: 89,507,996 probably benign Het
L1cam T C X: 73,863,028 T270A probably damaging Het
Lmod2 A G 6: 24,598,016 N45S probably benign Het
Mmp2 A G 8: 92,839,342 I424V probably benign Het
Myh8 A G 11: 67,303,913 Q1650R possibly damaging Het
Naalad2 T A 9: 18,364,187 E313V possibly damaging Het
Nipsnap3a A G 4: 52,994,134 T74A probably benign Het
Npr2 G T 4: 43,640,652 M368I probably benign Het
Nupl1 T C 14: 60,228,775 T445A probably benign Het
Olfr294 A G 7: 86,615,677 Y323H possibly damaging Het
Olfr582 A G 7: 103,042,130 D212G probably damaging Het
Pkp3 A G 7: 141,082,693 T73A probably benign Het
Pole A G 5: 110,301,998 probably benign Het
Ppp2r3a C T 9: 101,211,192 G644D probably benign Het
Ptprb T C 10: 116,339,582 Y1161H probably benign Het
Ptprs T A 17: 56,437,943 K264N probably damaging Het
Rasal2 T C 1: 157,192,741 probably benign Het
Serpina6 A T 12: 103,646,913 I376N probably damaging Het
Setx T G 2: 29,161,799 I2062M probably benign Het
Slc9c1 A G 16: 45,543,168 D99G probably benign Het
Taok1 A G 11: 77,560,328 Y309H probably damaging Het
Trappc10 T C 10: 78,188,761 D1178G probably damaging Het
Trav5-1 G A 14: 52,622,845 E36K probably damaging Het
Vmn1r237 T C 17: 21,314,837 V274A probably benign Het
Vmn1r29 A T 6: 58,307,750 S152C probably damaging Het
Washc5 C A 15: 59,363,350 probably benign Het
Zfp369 T G 13: 65,296,153 L370R possibly damaging Het
Zfp750 T C 11: 121,513,347 Y234C probably damaging 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
IGL01979:Ero1l APN 14 45287744 missense probably damaging 1.00
IGL02302:Ero1l APN 14 45293162 missense probably benign 0.34
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
R9201:Ero1l UTSW 14 45287757 missense probably damaging 0.99
Z1176:Ero1l UTSW 14 45299890 missense probably damaging 0.99
Posted On 2016-08-02