Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01672:Ero1a'

103545

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 #

IGL01672

Quality Score

Status

Chromosome

Chromosomal Location

45520544-45556029 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 45529887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 349 (S349A)

Ref Sequence

ENSEMBL: ENSMUSP00000022378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022378]

AlphaFold

Q8R180

Predicted Effect

probably benign
Transcript: ENSMUST00000022378
AA Change: S349A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022378
Gene: ENSMUSG00000021831
AA Change: S349A

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: S134A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228564

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,618,316 (GRCm39)	E203G	probably damaging	Het
Ano1	G	T	7: 144,209,412 (GRCm39)	Q206K	probably damaging	Het
Ap4e1	T	A	2: 126,894,109 (GRCm39)	S620T	probably damaging	Het
Arfip1	A	T	3: 84,455,339 (GRCm39)		probably benign	Het
Atp8a2	A	T	14: 59,928,982 (GRCm39)	M1024K	probably benign	Het
Brap	T	C	5: 121,816,908 (GRCm39)		probably benign	Het
Calcrl	T	A	2: 84,175,414 (GRCm39)	T287S	probably damaging	Het
Clptm1l	G	A	13: 73,755,992 (GRCm39)		probably null	Het
Cpb1	T	A	3: 20,329,585 (GRCm39)	Q47L	probably null	Het
Cse1l	T	C	2: 166,771,887 (GRCm39)	I402T	probably damaging	Het
Dnah17	A	G	11: 117,932,986 (GRCm39)	S3591P	probably damaging	Het
Dst	T	G	1: 34,264,774 (GRCm39)	I2322S	probably damaging	Het
Dync2h1	G	A	9: 7,118,884 (GRCm39)	R2194*	probably null	Het
Ecpas	A	G	4: 58,814,041 (GRCm39)	V1355A	probably benign	Het
Eno4	A	G	19: 58,931,977 (GRCm39)	N30S	possibly damaging	Het
Fat1	C	T	8: 45,493,737 (GRCm39)	T3938I	probably benign	Het
Focad	T	C	4: 88,278,827 (GRCm39)		probably null	Het
Gnai3	A	T	3: 108,016,775 (GRCm39)	I343N	probably damaging	Het
Golph3	T	C	15: 12,349,643 (GRCm39)	V221A	probably benign	Het
Gpr153	C	A	4: 152,364,370 (GRCm39)	S142*	probably null	Het
Itpr1	C	A	6: 108,357,993 (GRCm39)	Y557*	probably null	Het
Nat8f5	A	G	6: 85,794,934 (GRCm39)	Y9H	probably damaging	Het
Nbas	T	C	12: 13,429,650 (GRCm39)	V1045A	possibly damaging	Het
Nol8	T	C	13: 49,828,883 (GRCm39)	V1047A	possibly damaging	Het
Or2t48	A	C	11: 58,419,948 (GRCm39)	L288R	probably benign	Het
Or5p1	T	A	7: 107,916,725 (GRCm39)	V208E	probably benign	Het
Osbpl1a	G	A	18: 12,899,881 (GRCm39)	T178I	probably damaging	Het
Palld	T	A	8: 62,330,536 (GRCm39)	I114F	probably benign	Het
Pcca	A	T	14: 122,927,557 (GRCm39)	Y440F	probably benign	Het
Pclo	T	C	5: 14,728,549 (GRCm39)		probably benign	Het
Piwil1	T	C	5: 128,827,037 (GRCm39)	M599T	possibly damaging	Het
Pkd1l2	T	A	8: 117,807,471 (GRCm39)	Y189F	possibly damaging	Het
Plscr3	A	G	11: 69,738,508 (GRCm39)	K91R	possibly damaging	Het
Rars1	A	T	11: 35,699,380 (GRCm39)	C638S	probably damaging	Het
Relb	T	A	7: 19,345,619 (GRCm39)	H406L	probably benign	Het
Ros1	G	T	10: 51,977,899 (GRCm39)	T1449K	possibly damaging	Het
Samd3	A	T	10: 26,146,067 (GRCm39)	N364I	possibly damaging	Het
Scn2a	T	A	2: 65,582,278 (GRCm39)	I1542N	probably damaging	Het
Sdk1	T	A	5: 142,170,930 (GRCm39)	M1931K	probably benign	Het
Sphk2	T	C	7: 45,361,077 (GRCm39)	D309G	possibly damaging	Het
Stil	T	C	4: 114,889,986 (GRCm39)	S825P	probably damaging	Het
Swt1	C	T	1: 151,270,359 (GRCm39)		probably null	Het
Virma	C	T	4: 11,527,792 (GRCm39)	R1228C	probably damaging	Het
Xirp2	T	A	2: 67,338,846 (GRCm39)	H362Q	probably benign	Het
Zfp451	C	A	1: 33,801,247 (GRCm39)	M1056I	probably benign	Het
Zfp458	T	A	13: 67,405,300 (GRCm39)	M380L	probably benign	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
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
IGL03351:Ero1a	APN	14	45,531,990 (GRCm39)	missense	probably benign
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

2014-01-21