Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03351:Ero1a'

419725

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ero1a

Ensembl Gene

ENSMUSG00000021831

Gene Name

endoplasmic reticulum oxidoreductase 1 alpha

Synonyms

Ero1l

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

IGL03351

Quality Score

Status

Chromosome

Chromosomal Location

45520544-45556029 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45531990 bp (GRCm39)

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	A	2: 68,561,427 (GRCm39)	D251E	probably benign	Het
5730460C07Rik	C	T	3: 153,495,595 (GRCm39)		noncoding transcript	Het
Coch	G	A	12: 51,649,989 (GRCm39)	R326Q	probably benign	Het
Cpa3	A	G	3: 20,270,126 (GRCm39)	V366A	probably benign	Het
Csf1r	C	T	18: 61,250,180 (GRCm39)	Q382*	probably null	Het
Csta1	C	A	16: 35,951,411 (GRCm39)	G4*	probably null	Het
Cts7	T	C	13: 61,504,417 (GRCm39)	R49G	probably damaging	Het
Dlg5	A	G	14: 24,220,522 (GRCm39)	V575A	probably benign	Het
Faap24	G	T	7: 35,094,734 (GRCm39)	C58*	probably null	Het
Hfm1	G	A	5: 107,059,441 (GRCm39)	Q194*	probably null	Het
Hs3st5	T	A	10: 36,709,319 (GRCm39)	Y285N	probably damaging	Het
Hyal6	G	A	6: 24,743,428 (GRCm39)	G375R	probably damaging	Het
Itgb5	T	C	16: 33,730,922 (GRCm39)	S93P	probably benign	Het
Kcnj6	A	T	16: 94,633,442 (GRCm39)	M205K	probably damaging	Het
Kdm6a	C	T	X: 18,113,343 (GRCm39)	Q92*	probably null	Het
Klhl38	A	G	15: 58,186,726 (GRCm39)	M1T	probably null	Het
Krtap7-1	T	C	16: 89,304,884 (GRCm39)		probably benign	Het
L1cam	T	C	X: 72,906,634 (GRCm39)	T270A	probably damaging	Het
Lmod2	A	G	6: 24,598,015 (GRCm39)	N45S	probably benign	Het
Magea13	G	A	X: 57,964,297 (GRCm39)	V19I	probably benign	Het
Mmp2	A	G	8: 93,565,970 (GRCm39)	I424V	probably benign	Het
Myh8	A	G	11: 67,194,739 (GRCm39)	Q1650R	possibly damaging	Het
Naalad2	T	A	9: 18,275,483 (GRCm39)	E313V	possibly damaging	Het
Nipsnap3a	A	G	4: 52,994,134 (GRCm39)	T74A	probably benign	Het
Npr2	G	T	4: 43,640,652 (GRCm39)	M368I	probably benign	Het
Nup58	T	C	14: 60,466,224 (GRCm39)	T445A	probably benign	Het
Or14a256	A	G	7: 86,264,885 (GRCm39)	Y323H	possibly damaging	Het
Or52r1b	A	G	7: 102,691,337 (GRCm39)	D212G	probably damaging	Het
Pkp3	A	G	7: 140,662,606 (GRCm39)	T73A	probably benign	Het
Pole	A	G	5: 110,449,864 (GRCm39)		probably benign	Het
Ppp2r3d	C	T	9: 101,088,391 (GRCm39)	G644D	probably benign	Het
Pramel23	G	A	4: 143,423,658 (GRCm39)	T377I	possibly damaging	Het
Ptprb	T	C	10: 116,175,487 (GRCm39)	Y1161H	probably benign	Het
Ptprs	T	A	17: 56,744,943 (GRCm39)	K264N	probably damaging	Het
Rasal2	T	C	1: 157,020,311 (GRCm39)		probably benign	Het
Serpina6	A	T	12: 103,613,172 (GRCm39)	I376N	probably damaging	Het
Setx	T	G	2: 29,051,811 (GRCm39)	I2062M	probably benign	Het
Slc9c1	A	G	16: 45,363,531 (GRCm39)	D99G	probably benign	Het
Spata31h1	T	C	10: 82,119,401 (GRCm39)		probably benign	Het
Taok1	A	G	11: 77,451,154 (GRCm39)	Y309H	probably damaging	Het
Trappc10	T	C	10: 78,024,595 (GRCm39)	D1178G	probably damaging	Het
Trav5-1	G	A	14: 52,860,302 (GRCm39)	E36K	probably damaging	Het
Vmn1r237	T	C	17: 21,535,099 (GRCm39)	V274A	probably benign	Het
Vmn1r29	A	T	6: 58,284,735 (GRCm39)	S152C	probably damaging	Het
Washc5	C	A	15: 59,235,199 (GRCm39)		probably benign	Het
Zfp369	T	G	13: 65,443,967 (GRCm39)	L370R	possibly damaging	Het
Zfp750	T	C	11: 121,404,173 (GRCm39)	Y234C	probably damaging	Het

Other mutations in Ero1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Ero1a	APN	14	45,541,043 (GRCm39)	missense	probably benign	0.19
IGL01672:Ero1a	APN	14	45,529,887 (GRCm39)	missense	probably benign	0.05
IGL01914:Ero1a	APN	14	45,544,069 (GRCm39)	missense	probably damaging	1.00
IGL01979:Ero1a	APN	14	45,525,201 (GRCm39)	missense	probably damaging	1.00
IGL02302:Ero1a	APN	14	45,530,619 (GRCm39)	missense	probably benign	0.34
R0844:Ero1a	UTSW	14	45,530,457 (GRCm39)	missense	probably damaging	1.00
R1696:Ero1a	UTSW	14	45,537,392 (GRCm39)	missense	probably damaging	1.00
R1828:Ero1a	UTSW	14	45,525,217 (GRCm39)	missense	probably damaging	1.00
R2410:Ero1a	UTSW	14	45,542,723 (GRCm39)	missense	possibly damaging	0.89
R2504:Ero1a	UTSW	14	45,536,545 (GRCm39)	splice site	probably null
R3415:Ero1a	UTSW	14	45,525,323 (GRCm39)	missense	possibly damaging	0.91
R3417:Ero1a	UTSW	14	45,525,323 (GRCm39)	missense	possibly damaging	0.91
R4074:Ero1a	UTSW	14	45,529,893 (GRCm39)	splice site	probably null
R6369:Ero1a	UTSW	14	45,537,415 (GRCm39)	missense	probably damaging	0.99
R6899:Ero1a	UTSW	14	45,530,396 (GRCm39)	missense	probably benign	0.00
R7052:Ero1a	UTSW	14	45,544,040 (GRCm39)	nonsense	probably null
R7064:Ero1a	UTSW	14	45,544,049 (GRCm39)	missense	probably damaging	0.96
R7516:Ero1a	UTSW	14	45,525,480 (GRCm39)	missense	probably benign	0.06
R7520:Ero1a	UTSW	14	45,544,032 (GRCm39)	missense	probably damaging	1.00
R8326:Ero1a	UTSW	14	45,531,805 (GRCm39)	missense	probably damaging	1.00
R9201:Ero1a	UTSW	14	45,525,214 (GRCm39)	missense	probably damaging	0.99
R9735:Ero1a	UTSW	14	45,533,435 (GRCm39)	missense	possibly damaging	0.85
Z1176:Ero1a	UTSW	14	45,537,347 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02