Mutagenetix > Incidental Mutation

Incidental Mutation 'R6369:Ero1l'

512867

Institutional Source

Beutler Lab

Gene Symbol

Ero1l

Ensembl Gene

ENSMUSG00000021831

Gene Name

ERO1-like (S. cerevisiae)

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.253) 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	R571*	probably null	Het
Asb18	A	T	1: 90,014,471	I36N	probably damaging	Het
Ascc3	G	A	10: 50,699,985	G779S	probably damaging	Het
Atl2	T	C	17: 79,854,555	Q205R	probably damaging	Het
Axdnd1	A	G	1: 156,392,745	I235T	probably damaging	Het
Bri3bp	A	G	5: 125,454,701	N237S	probably damaging	Het
Ccdc191	A	G	16: 43,915,485	N256S	probably benign	Het
Cchcr1	T	C	17: 35,528,176	I474T	probably damaging	Het
Cd209c	T	C	8: 3,944,984	Y60C	probably damaging	Het
Cd300c	C	A	11: 114,957,555	D171Y	probably damaging	Het
Crb1	C	T	1: 139,237,462	V975M	probably damaging	Het
Csmd1	C	T	8: 17,535,004		probably benign	Het
Ctnna2	A	G	6: 76,980,695	S524P	possibly damaging	Het
Eno1	T	C	4: 150,239,568		probably null	Het
Fam186a	A	G	15: 99,947,331	M344T	unknown	Het
Frem1	A	T	4: 82,913,792		probably null	Het
Gjb5	G	T	4: 127,355,930	D140E	possibly damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Hk2	G	T	6: 82,736,753	S449R	probably damaging	Het
Hs3st3a1	A	T	11: 64,520,601	I322F	probably benign	Het
Itga1	T	C	13: 114,965,660	I1145V	probably damaging	Het
Kcp	A	G	6: 29,484,694	L1295S	probably damaging	Het
Macf1	T	C	4: 123,410,562	D49G	possibly damaging	Het
Mef2b	T	A	8: 70,165,559	D96E	probably benign	Het
Megf10	A	T	18: 57,261,187	D461V	probably benign	Het
Myom1	T	C	17: 71,101,076	S1104P	probably damaging	Het
Nab1	A	G	1: 52,490,222	L172P	probably damaging	Het
Olfr123	T	G	17: 37,795,496	D17E	probably benign	Het
Pate1	A	G	9: 35,687,028	V18A	probably benign	Het
Pink1	T	C	4: 138,320,734		probably null	Het
Pnpla1	T	A	17: 28,878,481	I207N	probably damaging	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Ppp1r21	C	A	17: 88,582,412		probably null	Het
Rad52	A	G	6: 119,914,207	E76G	unknown	Het
Rad54l	A	G	4: 116,111,189		probably null	Het
Rasgrf2	T	C	13: 92,131,446	M17V	probably benign	Het
Rbm42	A	G	7: 30,641,313	M411T	unknown	Het
Reln	A	G	5: 22,051,361	I495T	probably benign	Het
Rnf224	A	G	2: 25,235,942	F133S	probably damaging	Het
Rrm1	C	A	7: 102,446,702	H87Q	probably damaging	Het
Sec14l2	T	C	11: 4,103,962	D235G	possibly damaging	Het
Serpinb3d	G	T	1: 107,080,753	N127K	probably benign	Het
Skint7	A	T	4: 111,980,293	E89D	probably benign	Het
Slc22a5	T	G	11: 53,891,370	N57T	probably damaging	Het
Smarcd3	A	T	5: 24,594,984	F263I	probably damaging	Het
Sncaip	A	G	18: 52,868,604	I66V	probably damaging	Het
Syngr1	A	C	15: 80,115,590		probably benign	Het
Tbc1d2	A	G	4: 46,614,420	Y554H	probably benign	Het
Tmem198	T	C	1: 75,479,743	V44A	probably benign	Het
Trappc11	T	C	8: 47,512,285		probably null	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vmn2r111	C	T	17: 22,548,602	C638Y	probably damaging	Het
Washc4	A	G	10: 83,574,444	Y632C	probably damaging	Het
Zfp212	T	C	6: 47,930,897	V270A	probably benign	Het
Zfp92	G	A	X: 73,421,968	R189H	possibly damaging	Homo

Other mutations in Ero1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Ero1l	APN	14	45303586	missense	probably benign	0.19
IGL01672:Ero1l	APN	14	45292430	missense	probably benign	0.05
IGL01914:Ero1l	APN	14	45306612	missense	probably damaging	1.00
IGL01979:Ero1l	APN	14	45287744	missense	probably damaging	1.00
IGL02302:Ero1l	APN	14	45293162	missense	probably benign	0.34
IGL03351:Ero1l	APN	14	45294533	missense	probably benign
R0844:Ero1l	UTSW	14	45293000	missense	probably damaging	1.00
R1696:Ero1l	UTSW	14	45299935	missense	probably damaging	1.00
R1828:Ero1l	UTSW	14	45287760	missense	probably damaging	1.00
R2410:Ero1l	UTSW	14	45305266	missense	possibly damaging	0.89
R2504:Ero1l	UTSW	14	45299088	splice site	probably null
R3415:Ero1l	UTSW	14	45287866	missense	possibly damaging	0.91
R3417:Ero1l	UTSW	14	45287866	missense	possibly damaging	0.91
R4074:Ero1l	UTSW	14	45292436	splice site	probably null
R6899:Ero1l	UTSW	14	45292939	missense	probably benign	0.00
R7052:Ero1l	UTSW	14	45306583	nonsense	probably null
R7064:Ero1l	UTSW	14	45306592	missense	probably damaging	0.96
R7516:Ero1l	UTSW	14	45288023	missense	probably benign	0.06
R7520:Ero1l	UTSW	14	45306575	missense	probably damaging	1.00
R8326:Ero1l	UTSW	14	45294348	missense	probably damaging	1.00
R9201:Ero1l	UTSW	14	45287757	missense	probably damaging	0.99
Z1176:Ero1l	UTSW	14	45299890	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