Mutagenetix > Incidental Mutation

Incidental Mutation 'R3417:Ero1a'

266862

Institutional Source

Beutler Lab

Gene Symbol

Ero1a

Ensembl Gene

ENSMUSG00000021831

Gene Name

endoplasmic reticulum oxidoreductase 1 alpha

Synonyms

Ero1l

MMRRC Submission

040635-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R3417 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45520544-45556029 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45525323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 401 (T401A)

Ref Sequence

ENSEMBL: ENSMUSP00000022378 (fasta)

Gene Model

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

AlphaFold

Q8R180

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022378
AA Change: T401A

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022378
Gene: ENSMUSG00000021831
AA Change: T401A

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: T186A

Meta Mutation Damage Score

0.5984

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,224,302 (GRCm39)		probably benign	Het
Adgrl2	T	C	3: 148,564,965 (GRCm39)	Y201C	probably damaging	Het
Ankar	A	G	1: 72,698,135 (GRCm39)		probably null	Het
Ankrd17	G	A	5: 90,391,772 (GRCm39)	T1857I	possibly damaging	Het
Atp6v0d2	A	G	4: 19,888,829 (GRCm39)		probably benign	Het
Cep170	G	T	1: 176,583,610 (GRCm39)	P923Q	probably damaging	Het
Cfc1	A	T	1: 34,575,457 (GRCm39)	R44*	probably null	Het
Col6a1	C	T	10: 76,548,203 (GRCm39)	V618M	unknown	Het
Crmp1	A	T	5: 37,426,031 (GRCm39)	I159L	possibly damaging	Het
Crocc	G	A	4: 140,773,758 (GRCm39)	T103I	possibly damaging	Het
Cyp4f39	T	C	17: 32,708,716 (GRCm39)	V421A	possibly damaging	Het
Exoc6b	C	G	6: 84,867,547 (GRCm39)	L288F	possibly damaging	Het
Fsip2	G	A	2: 82,816,854 (GRCm39)	V4196I	possibly damaging	Het
Icosl	A	T	10: 77,907,869 (GRCm39)	N143I	possibly damaging	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Irag1	T	C	7: 110,476,161 (GRCm39)	T597A	possibly damaging	Het
Jrk	A	G	15: 74,578,734 (GRCm39)	Y184H	probably damaging	Het
Kdm5b	T	C	1: 134,515,715 (GRCm39)	L113P	probably damaging	Het
Klhl42	G	A	6: 147,009,378 (GRCm39)	V406M	probably damaging	Het
Lrp12	A	G	15: 39,741,678 (GRCm39)	F365L	probably damaging	Het
Lrrc37	A	T	11: 103,505,435 (GRCm39)	S2178T	possibly damaging	Het
Map4k5	A	T	12: 69,856,038 (GRCm39)	V716E	probably damaging	Het
Mcm9	T	C	10: 53,413,503 (GRCm39)	T1264A	possibly damaging	Het
Mia3	T	A	1: 183,143,444 (GRCm39)	D100V	probably damaging	Het
Mrgprb2	C	A	7: 48,202,281 (GRCm39)	R148L	probably damaging	Het
Mterf1a	A	G	5: 3,940,795 (GRCm39)	S358P	probably damaging	Het
Myd88	T	C	9: 119,166,556 (GRCm39)	I253V	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nqo2	G	T	13: 34,163,616 (GRCm39)	V92L	probably benign	Het
Or4k2	T	A	14: 50,424,069 (GRCm39)	T202S	possibly damaging	Het
Pcdhb15	A	T	18: 37,608,216 (GRCm39)	N483Y	probably damaging	Het
Pds5a	A	G	5: 65,795,235 (GRCm39)	F667S	probably damaging	Het
Plxnb1	C	A	9: 108,929,828 (GRCm39)	A228E	probably damaging	Het
Prpsap1	T	C	11: 116,369,410 (GRCm39)	S179G	probably benign	Het
Rtl4	C	T	X: 143,902,901 (GRCm39)	Q108*	probably null	Het
Scn8a	A	G	15: 100,869,549 (GRCm39)		probably benign	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Slc44a1	G	A	4: 53,553,549 (GRCm39)	V519I	probably benign	Het
Smg1	G	C	7: 117,748,076 (GRCm39)		probably benign	Het
Sptlc2	A	G	12: 87,393,582 (GRCm39)		probably benign	Het
St13	A	T	15: 81,253,651 (GRCm39)		probably benign	Het
Strbp	C	G	2: 37,480,737 (GRCm39)	R610T	possibly damaging	Het
Tas2r124	A	T	6: 132,732,601 (GRCm39)	R303S	probably benign	Het
Tex55	A	C	16: 38,649,102 (GRCm39)	D2E	probably benign	Het
Tgm3	G	A	2: 129,889,692 (GRCm39)	V629M	possibly damaging	Het
Tnr	T	C	1: 159,722,612 (GRCm39)	V1019A	probably benign	Het
Ttn	A	T	2: 76,615,908 (GRCm39)	C14932*	probably null	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	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
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

Predicted Primers

PCR Primer
(F):5'- TGGCTAGCAGAAGCAGTTTC -3'
(R):5'- TCACGGAAAGCACTGGGAAC -3'

Sequencing Primer
(F):5'- CTAGCAGAAGCAGTTTCAGGACATC -3'
(R):5'- GAGGACTTCCGGCTACACTTTAG -3'

Posted On

2015-02-18