Mutagenetix > Incidental Mutation

Incidental Mutation 'R6369:Ero1a'

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

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

Domain	Start	End	E-Value	Type
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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
(F):5'- AGGGCATTTTAGTTTCTATGTCCT -3'
(R):5'- TCTGCATTGGCTAGGCAAAA -3'

Sequencing Primer
(F):5'- GATCTGCACAGGTCTAGA -3'
(R):5'- TGTTAAGCATCCCAGCTAAGGTC -3'

Posted On

2018-04-27