Mutagenetix > Incidental Mutation

Incidental Mutation 'R7052:Ero1a'

547677

Institutional Source

Beutler Lab

Gene Symbol

Ero1a

Ensembl Gene

ENSMUSG00000021831

Gene Name

endoplasmic reticulum oxidoreductase 1 alpha

Synonyms

Ero1l

MMRRC Submission

045149-MU

Accession Numbers

Essential gene?

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

Stock #

R7052 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45520544-45556029 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 45544040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 55 (K55*)

Ref Sequence

ENSEMBL: ENSMUSP00000022378 (fasta)

Gene Model

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

AlphaFold

Q8R180

Predicted Effect

probably null
Transcript: ENSMUST00000022378
AA Change: K55*

SMART Domains

Protein: ENSMUSP00000022378
Gene: ENSMUSG00000021831
AA Change: K55*

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:ERO1	60	453	3.7e-128	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000227315

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (63/63)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	T	6: 142,604,261 (GRCm39)	R658H	probably benign	Het
Als2cl	C	T	9: 110,727,151 (GRCm39)	R906C	probably damaging	Het
Asb8	T	C	15: 98,034,282 (GRCm39)	H91R	probably damaging	Het
Atp8b3	C	T	10: 80,355,858 (GRCm39)	E1285K	probably benign	Het
Bves	G	A	10: 45,222,386 (GRCm39)	R172H	possibly damaging	Het
C6	A	T	15: 4,763,177 (GRCm39)	N59I	probably damaging	Het
Capn15	A	T	17: 26,180,724 (GRCm39)	V782D	probably damaging	Het
Ccdc168	T	A	1: 44,096,466 (GRCm39)	Y1544F	possibly damaging	Het
Ccdc18	T	C	5: 108,309,554 (GRCm39)	L383S	probably benign	Het
Coro6	C	A	11: 77,357,056 (GRCm39)	N119K	probably benign	Het
Cps1	T	A	1: 67,237,569 (GRCm39)	D1023E	probably damaging	Het
Dctn1	T	A	6: 83,172,262 (GRCm39)		probably null	Het
Fam209	G	A	2: 172,314,751 (GRCm39)	G80D	possibly damaging	Het
Fam89b	G	A	19: 5,779,276 (GRCm39)	R94C	probably damaging	Het
Fut1	A	G	7: 45,269,181 (GRCm39)	*323W	probably null	Het
Garin2	C	T	12: 78,766,176 (GRCm39)	T315I	probably benign	Het
Gm47985	T	A	1: 151,058,890 (GRCm39)	F177Y	possibly damaging	Het
Gstm7	T	A	3: 107,838,633 (GRCm39)	D37V	probably damaging	Het
H2-Aa	T	A	17: 34,503,484 (GRCm39)	S38C	possibly damaging	Het
Ighg2c	T	C	12: 113,252,343 (GRCm39)	T70A		Het
Ino80	A	G	2: 119,257,068 (GRCm39)		probably null	Het
Irf8	C	T	8: 121,466,581 (GRCm39)	R9W	probably damaging	Het
Kcnt2	A	G	1: 140,310,785 (GRCm39)	N197S	probably damaging	Het
Kif11	T	A	19: 37,373,040 (GRCm39)	C86*	probably null	Het
Lonp1	A	T	17: 56,933,549 (GRCm39)	F109I	probably benign	Het
Mlkl	G	A	8: 112,046,074 (GRCm39)	S312L	possibly damaging	Het
Mroh9	T	A	1: 162,866,525 (GRCm39)	Q706L	possibly damaging	Het
Mtmr7	T	C	8: 41,008,874 (GRCm39)	H315R	possibly damaging	Het
Myh7b	G	C	2: 155,456,053 (GRCm39)	R146P	probably damaging	Het
Naip5	A	G	13: 100,358,855 (GRCm39)	Y794H	probably benign	Het
Nup153	A	T	13: 46,840,949 (GRCm39)	N886K	probably benign	Het
Nup205	A	G	6: 35,192,077 (GRCm39)	R1047G	possibly damaging	Het
Oog3	A	T	4: 143,887,027 (GRCm39)	L31Q	probably damaging	Het
Or5b123	T	A	19: 13,596,990 (GRCm39)	S155T	probably benign	Het
Or6c38	T	C	10: 128,929,744 (GRCm39)	Y33C	probably damaging	Het
Palmd	T	C	3: 116,717,012 (GRCm39)	N495S	probably benign	Het
Patj	A	G	4: 98,565,497 (GRCm39)	Q1070R	probably benign	Het
Pax1	G	A	2: 147,207,824 (GRCm39)	R232H	probably damaging	Het
Pcdhb1	A	G	18: 37,399,582 (GRCm39)	N511S	probably damaging	Het
Pigs	C	T	11: 78,232,211 (GRCm39)	L448F	probably damaging	Het
Pih1d2	A	G	9: 50,533,077 (GRCm39)	Y235C	probably damaging	Het
Pkd2l2	T	A	18: 34,558,212 (GRCm39)	I297K	possibly damaging	Het
Pou2f1	C	T	1: 165,742,684 (GRCm39)	V82I	possibly damaging	Het
Pramel1	T	C	4: 143,123,074 (GRCm39)	L17P	probably damaging	Het
Riok1	C	T	13: 38,220,991 (GRCm39)		probably benign	Het
Scg3	C	A	9: 75,568,664 (GRCm39)	E358*	probably null	Het
Siglec15	T	C	18: 78,091,946 (GRCm39)	E85G	probably damaging	Het
Snx20	T	C	8: 89,356,606 (GRCm39)	H70R	probably benign	Het
Spi1	T	A	2: 90,943,685 (GRCm39)	S76R	probably damaging	Het
Stat5a	T	C	11: 100,770,111 (GRCm39)	S463P	probably damaging	Het
Svs5	A	G	2: 164,080,126 (GRCm39)	I13T	unknown	Het
Tmem132e	T	C	11: 82,328,189 (GRCm39)	S406P	probably damaging	Het
Top1mt	T	C	15: 75,540,560 (GRCm39)	N237S	possibly damaging	Het
Trav6d-4	G	A	14: 52,991,053 (GRCm39)	V30M	possibly damaging	Het
Trp73	A	T	4: 154,149,140 (GRCm39)	M217K	probably damaging	Het
Vmn1r58	A	G	7: 5,414,134 (GRCm39)	I32T	probably benign	Het
Vmn1r9	T	C	6: 57,048,396 (GRCm39)	M157T	probably benign	Het
Vmn2r100	C	T	17: 19,751,556 (GRCm39)	S533F	possibly damaging	Het
Vmn2r112	T	A	17: 22,821,507 (GRCm39)	M160K	probably benign	Het
Vps13d	C	A	4: 144,889,914 (GRCm39)	A597S	probably benign	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,594,446 (GRCm39)		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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GGACATTTGCATGCATACACAC -3'
(R):5'- TCTATCTTAGAGAACCAAGAGAAGGTG -3'

Sequencing Primer
(F):5'- CTGATGATTAGTCATCTCAGCA -3'
(R):5'- TGGGAAGATAATGTTGCTGAGTAG -3'

Posted On

2019-05-13