Mutagenetix > Incidental Mutation

Incidental Mutation 'R9371:Ero1b'

709332

Institutional Source

Beutler Lab

Gene Symbol

Ero1b

Ensembl Gene

ENSMUSG00000057069

Gene Name

endoplasmic reticulum oxidoreductase 1 beta

Synonyms

1700065B09Rik, 1300013B24Rik, Ero1lb

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R9371 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12580701-12624422 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 12589728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 44 (C44G)

Ref Sequence

ENSEMBL: ENSMUSP00000152393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071973] [ENSMUST00000220811] [ENSMUST00000221560]

AlphaFold

Q8R2E9

Predicted Effect

probably damaging
Transcript: ENSMUST00000071973
AA Change: C44G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071864
Gene: ENSMUSG00000057069
AA Change: C44G

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
low complexity region	39	50	N/A	INTRINSIC
Pfam:ERO1	56	456	2.5e-130	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000220811
AA Change: C44G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221560
AA Change: C44G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased circulating glucose levels, decreased pancreas insulin levels, and disorganized islets. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	C	6: 40,943,663 (GRCm39)	I109T	probably damaging	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Abca8b	T	G	11: 109,858,498 (GRCm39)	Q568P	probably damaging	Het
Add3	A	G	19: 53,221,499 (GRCm39)	T204A	probably damaging	Het
Afg3l2	C	A	18: 67,567,262 (GRCm39)	R196L	possibly damaging	Het
Agps	T	A	2: 75,742,024 (GRCm39)		probably null	Het
Akap9	A	G	5: 4,011,852 (GRCm39)	S852G	possibly damaging	Het
Aoc1	A	G	6: 48,883,102 (GRCm39)	D326G	probably benign	Het
Cecr2	A	G	6: 120,739,229 (GRCm39)	T1319A	probably benign	Het
Cenpo	C	T	12: 4,266,686 (GRCm39)	V141I	probably benign	Het
Clca4b	A	G	3: 144,631,845 (GRCm39)	L220S	possibly damaging	Het
Dicer1	A	G	12: 104,670,991 (GRCm39)	L1017P	probably damaging	Het
Ffar2	A	T	7: 30,518,929 (GRCm39)	W204R	probably benign	Het
Fmo3	T	A	1: 162,796,281 (GRCm39)	E97V	probably benign	Het
Gcnt4	G	T	13: 97,083,634 (GRCm39)	R310L	possibly damaging	Het
Gm7298	A	G	6: 121,744,541 (GRCm39)	I520V	probably benign	Het
Gmpr	T	C	13: 45,699,471 (GRCm39)	L327P	probably damaging	Het
Grid2	T	A	6: 64,677,506 (GRCm39)	H108Q	unknown	Het
Hmcn2	G	T	2: 31,301,917 (GRCm39)	L2935F	probably damaging	Het
Hnf1b	T	C	11: 83,779,986 (GRCm39)	S440P	probably benign	Het
Hsph1	A	T	5: 149,543,395 (GRCm39)	Y644N	probably damaging	Het
Igf2r	A	G	17: 12,924,646 (GRCm39)	I1057T	possibly damaging	Het
Igfn1	T	C	1: 135,906,001 (GRCm39)	E269G	probably damaging	Het
Igkv14-126	A	G	6: 67,873,352 (GRCm39)	T27A	possibly damaging	Het
Inhca	A	T	9: 103,158,252 (GRCm39)	Y103N	probably benign	Het
Kcnj15	A	G	16: 95,097,556 (GRCm39)	R393G	unknown	Het
Lamb1	A	G	12: 31,348,863 (GRCm39)	T632A	probably damaging	Het
Lrrk2	T	C	15: 91,607,407 (GRCm39)	L590P	probably damaging	Het
Mrm3	A	G	11: 76,138,286 (GRCm39)	T225A	possibly damaging	Het
Mthfd1l	A	G	10: 4,053,335 (GRCm39)	T895A	possibly damaging	Het
Myh1	G	A	11: 67,110,631 (GRCm39)		probably null	Het
Naip2	T	A	13: 100,298,354 (GRCm39)	K561*	probably null	Het
Necab2	C	T	8: 120,173,923 (GRCm39)	P44S	probably benign	Het
Nrde2	T	C	12: 100,092,477 (GRCm39)	S1126G	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or14j6	A	G	17: 38,214,962 (GRCm39)	H175R	probably benign	Het
Or8c17	T	A	9: 38,179,926 (GRCm39)	V31E	possibly damaging	Het
Pecam1	T	G	11: 106,581,947 (GRCm39)	D333A	probably benign	Het
Prss27	T	C	17: 24,257,141 (GRCm39)		probably benign	Het
Rapgef2	T	C	3: 79,082,300 (GRCm39)	E100G	probably damaging	Het
Rnft2	A	G	5: 118,340,982 (GRCm39)	F299L	probably damaging	Het
Rptor	A	G	11: 119,562,152 (GRCm39)	N105S	possibly damaging	Het
S100a7l2	T	C	3: 90,997,698 (GRCm39)	T6A	unknown	Het
Scgb2b3	T	A	7: 31,059,642 (GRCm39)	H44L	probably benign	Het
Slc22a17	A	T	14: 55,147,139 (GRCm39)	V53D	possibly damaging	Het
Slc39a14	G	A	14: 70,547,569 (GRCm39)	T298M	probably benign	Het
Sorbs1	G	A	19: 40,315,324 (GRCm39)	T496M	probably damaging	Het
Spata31e1	G	C	13: 49,939,052 (GRCm39)	T886S	unknown	Het
Taar8a	T	C	10: 23,952,753 (GRCm39)	V119A	probably benign	Het
Tas1r3	T	C	4: 155,945,059 (GRCm39)	T721A	possibly damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmie	A	T	9: 110,696,651 (GRCm39)	C77S	probably damaging	Het
Tpp2	T	A	1: 43,999,369 (GRCm39)	I381K	probably damaging	Het
Ttn	G	C	2: 76,776,822 (GRCm39)	A1526G	unknown	Het
Vmn2r12	T	A	5: 109,234,452 (GRCm39)	M587L	probably benign	Het
Zeb2	G	T	2: 44,888,912 (GRCm39)	H344Q	probably damaging	Het
Zfp292	A	G	4: 34,810,800 (GRCm39)	I753T	probably damaging	Het
Zfp442	A	T	2: 150,250,676 (GRCm39)	C409S	unknown	Het
Zfp677	C	T	17: 21,618,053 (GRCm39)	T370M	probably damaging	Het
Zfp947	G	A	17: 22,364,384 (GRCm39)	T430I	possibly damaging	Het

Other mutations in Ero1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Ero1b	APN	13	12,616,623 (GRCm39)	critical splice acceptor site	probably null
IGL02738:Ero1b	APN	13	12,619,322 (GRCm39)	missense	possibly damaging	0.94
IGL03033:Ero1b	APN	13	12,596,551 (GRCm39)	missense	probably damaging	1.00
R0607:Ero1b	UTSW	13	12,589,747 (GRCm39)	missense	probably damaging	1.00
R0801:Ero1b	UTSW	13	12,596,568 (GRCm39)	missense	probably benign	0.10
R1665:Ero1b	UTSW	13	12,594,142 (GRCm39)	critical splice donor site	probably null
R1851:Ero1b	UTSW	13	12,619,292 (GRCm39)	missense	possibly damaging	0.61
R1928:Ero1b	UTSW	13	12,616,648 (GRCm39)	missense	probably damaging	1.00
R2910:Ero1b	UTSW	13	12,615,178 (GRCm39)	missense	probably damaging	1.00
R3719:Ero1b	UTSW	13	12,598,493 (GRCm39)	critical splice donor site	probably null
R4873:Ero1b	UTSW	13	12,619,325 (GRCm39)	missense	probably damaging	0.99
R4875:Ero1b	UTSW	13	12,619,325 (GRCm39)	missense	probably damaging	0.99
R5053:Ero1b	UTSW	13	12,614,795 (GRCm39)	missense	probably damaging	1.00
R5338:Ero1b	UTSW	13	12,589,732 (GRCm39)	missense	probably damaging	1.00
R5415:Ero1b	UTSW	13	12,616,656 (GRCm39)	missense	probably benign	0.02
R5800:Ero1b	UTSW	13	12,617,190 (GRCm39)	splice site	probably null
R5907:Ero1b	UTSW	13	12,615,207 (GRCm39)	missense	probably damaging	0.98
R5909:Ero1b	UTSW	13	12,594,139 (GRCm39)	missense	probably benign	0.18
R6029:Ero1b	UTSW	13	12,589,714 (GRCm39)	missense	probably damaging	1.00
R7234:Ero1b	UTSW	13	12,615,203 (GRCm39)	missense	possibly damaging	0.72
R7331:Ero1b	UTSW	13	12,615,015 (GRCm39)	missense	probably damaging	1.00
R7577:Ero1b	UTSW	13	12,617,254 (GRCm39)	missense	probably damaging	0.99
R7726:Ero1b	UTSW	13	12,620,722 (GRCm39)	makesense	probably null
R8477:Ero1b	UTSW	13	12,616,672 (GRCm39)	missense	probably benign	0.02
R8528:Ero1b	UTSW	13	12,614,757 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAGTCTGAATCCAGTGGCGG -3'
(R):5'- AGAAGAAGAGTTCTGATTCTTGGTG -3'

Sequencing Primer
(F):5'- TACACATGTGACATGGCATGC -3'
(R):5'- GTGTGTGTTGTAAACAAGCTTTTCAC -3'

Posted On

2022-04-18