Incidental Mutation 'R4074:Ero1l'
ID 316483
Institutional Source Beutler Lab
Gene Symbol Ero1l
Ensembl Gene ENSMUSG00000021831
Gene Name ERO1-like (S. cerevisiae)
Synonyms
MMRRC Submission 040855-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # R4074 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 45283087-45318771 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 45292436 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000022378]
AlphaFold Q8R180
Predicted Effect probably null
Transcript: ENSMUST00000022378
SMART Domains Protein: ENSMUSP00000022378
Gene: ENSMUSG00000021831

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:ERO1 60 453 3.7e-128 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000227147
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228564
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 95% (63/66)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T C 2: 19,480,590 E422G probably damaging Het
5830473C10Rik T A 5: 90,592,868 probably null Het
8430408G22Rik A G 6: 116,652,068 N124S possibly damaging Het
Ace3 A G 11: 105,997,214 Y287C probably damaging Het
Arfgap3 C T 15: 83,303,129 A510T probably damaging Het
Atg12 A G 18: 46,737,424 F92L probably benign Het
Axl A G 7: 25,763,911 probably benign Het
Chgb C A 2: 132,793,927 D596E possibly damaging Het
Cmtr2 T A 8: 110,221,217 F53Y possibly damaging Het
Cnot10 A G 9: 114,622,947 F254L possibly damaging Het
Crb2 G T 2: 37,786,843 C251F probably damaging Het
Crybg3 A T 16: 59,555,757 probably benign Het
Cytl1 A G 5: 37,735,596 I17V unknown Het
D930020B18Rik A G 10: 121,656,218 probably benign Het
Dnah11 A G 12: 118,045,678 M2083T probably benign Het
Dst A G 1: 34,192,269 E2656G probably benign Het
Dst T C 1: 34,228,461 F4995L probably damaging Het
Egf C T 3: 129,735,969 R264Q probably benign Het
Eps15l1 A G 8: 72,380,284 I482T probably damaging Het
Eqtn A G 4: 94,919,962 I201T possibly damaging Het
Etl4 T C 2: 20,809,219 probably benign Het
Fcho1 T C 8: 71,710,369 H672R probably damaging Het
Glt6d1 T C 2: 25,794,127 D289G probably damaging Het
Gm16427 A T 5: 93,485,198 M50K probably damaging Het
Gm5134 T A 10: 76,008,531 W574R probably damaging Het
Gm5346 A T 8: 43,626,350 F279Y probably damaging Het
Gm5414 T C 15: 101,625,553 N332D probably benign Het
Gnb3 T A 6: 124,836,979 E215D probably benign Het
Ighv1-30 C T 12: 114,817,401 noncoding transcript Het
Ighv1-4 A G 12: 114,487,527 S15P possibly damaging Het
Igkv1-133 T G 6: 67,725,521 Y74* probably null Het
Il17f G A 1: 20,777,763 probably benign Het
Itpr2 C T 6: 146,373,244 probably null Het
Krtap31-1 T C 11: 99,908,232 I87T possibly damaging Het
Lilra6 A T 7: 3,914,890 F85Y probably benign Het
Lrig3 C T 10: 126,013,408 T999I probably benign Het
Myh7b T C 2: 155,618,758 I277T probably damaging Het
Myo3b T C 2: 70,289,464 F984S probably damaging Het
Naip5 G A 13: 100,246,064 R46W probably damaging Het
Nup205 T A 6: 35,192,040 probably null Het
Olfr670 A T 7: 104,960,716 N5K probably damaging Het
Pde11a C T 2: 76,337,898 R237H probably damaging Het
Pdk4 T C 6: 5,491,865 N69S probably benign Het
Pot1a T C 6: 25,752,357 probably null Het
Psg23 A T 7: 18,607,118 S404T possibly damaging Het
Rev1 T G 1: 38,054,238 K1075T possibly damaging Het
Rrbp1 T G 2: 143,963,110 Q1045P probably benign Het
Scg2 A C 1: 79,436,857 F50V probably damaging Het
Sel1l3 A G 5: 53,154,287 Y619H probably damaging Het
Slco1a5 A T 6: 142,268,224 I57K possibly damaging Het
Srp72 C A 5: 76,998,251 T633K probably benign Het
Swt1 A G 1: 151,394,769 V565A probably benign Het
Tesk1 A G 4: 43,443,606 I58V possibly damaging Het
Tm2d3 T A 7: 65,697,750 L49* probably null Het
Tmprss11e T C 5: 86,715,643 T188A possibly damaging Het
Tnxb A G 17: 34,671,871 N396S probably benign Het
Tuba8 T A 6: 121,222,797 S147T probably damaging Het
Usp8 A G 2: 126,752,370 D822G probably damaging Het
Vmn2r13 T A 5: 109,156,700 I622F probably damaging Het
Vmn2r24 A T 6: 123,787,415 H417L possibly damaging Het
Zfp608 A T 18: 54,898,108 V920E probably damaging Het
Zmym2 T C 14: 56,903,004 L100P 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
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
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
R9735:Ero1l UTSW 14 45295978 missense possibly damaging 0.85
Z1176:Ero1l UTSW 14 45299890 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGTCAAGATCTCCCACCTATCC -3'
(R):5'- TTGAGGCCACACTTCTAATACAC -3'

Sequencing Primer
(F):5'- TGTCCTCAGCCTCTCAAAAG -3'
(R):5'- GTTGGCGTTACTGAATTTTATTC -3'
Posted On 2015-05-15