Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01015:Ero1b'

53937

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ero1b

Ensembl Gene

ENSMUSG00000057069

Gene Name

endoplasmic reticulum oxidoreductase 1 beta

Synonyms

1700065B09Rik, 1300013B24Rik, Ero1lb

Accession Numbers

Essential gene?

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

Stock #

IGL01015

Quality Score

Status

Chromosome

Chromosomal Location

12580701-12624422 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 12616623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152393 (fasta)

Gene Model

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

AlphaFold

Q8R2E9

Predicted Effect

probably null
Transcript: ENSMUST00000071973

SMART Domains

Protein: ENSMUSP00000071864
Gene: ENSMUSG00000057069

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 null
Transcript: ENSMUST00000071973

SMART Domains

Protein: ENSMUSP00000071864
Gene: ENSMUSG00000057069

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 null
Transcript: ENSMUST00000220811

Predicted Effect

probably null
Transcript: ENSMUST00000220811

Predicted Effect

probably null
Transcript: ENSMUST00000221560

Predicted Effect

probably null
Transcript: ENSMUST00000221560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221739

Coding Region Coverage

Validation Efficiency

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	A	G	10: 88,870,961 (GRCm39)	Y238H	probably damaging	Het
Apol7a	T	C	15: 77,274,055 (GRCm39)		probably benign	Het
Cacna1d	A	T	14: 29,773,699 (GRCm39)		probably benign	Het
Col12a1	A	G	9: 79,541,023 (GRCm39)	V2368A	probably damaging	Het
Creb3l4	A	G	3: 90,150,138 (GRCm39)	M1T	probably null	Het
Dpys	T	C	15: 39,710,045 (GRCm39)	D128G	probably damaging	Het
Fcgbpl1	T	C	7: 27,854,743 (GRCm39)	C1790R	probably damaging	Het
Fcgr4	A	G	1: 170,853,358 (GRCm39)	S188G	possibly damaging	Het
Fry	A	G	5: 150,346,252 (GRCm39)	D1587G	probably benign	Het
Gm43638	T	A	5: 87,634,473 (GRCm39)	R45*	probably null	Het
Gm7647	T	A	5: 95,111,746 (GRCm39)	C152S	probably benign	Het
Golga3	T	G	5: 110,335,583 (GRCm39)	M299R	probably benign	Het
Iqub	A	T	6: 24,501,005 (GRCm39)		probably benign	Het
Irak3	A	T	10: 119,978,695 (GRCm39)	Y493*	probably null	Het
Jakmip1	G	T	5: 37,242,750 (GRCm39)	E13*	probably null	Het
Morc3	G	A	16: 93,659,534 (GRCm39)	C446Y	probably damaging	Het
Mroh2b	G	A	15: 4,971,024 (GRCm39)	D1010N	probably damaging	Het
Or14c44	A	G	7: 86,061,998 (GRCm39)	T184A	probably damaging	Het
Or2y16	T	A	11: 49,335,201 (GRCm39)	N174K	probably damaging	Het
Or5m9	A	T	2: 85,876,996 (GRCm39)	M57L	possibly damaging	Het
Pkhd1	G	A	1: 20,593,482 (GRCm39)	H1544Y	possibly damaging	Het
Rps2-ps10	C	T	18: 61,392,896 (GRCm39)		probably benign	Het
Smco1	T	C	16: 32,092,887 (GRCm39)	V186A	probably damaging	Het
Snx1	C	T	9: 66,001,713 (GRCm39)	E314K	possibly damaging	Het
Timd2	T	C	11: 46,567,170 (GRCm39)	Y255C	probably benign	Het
Tnc	A	T	4: 63,935,571 (GRCm39)	I455K	probably benign	Het
Tsc22d1	A	G	14: 76,656,181 (GRCm39)	I31V	possibly damaging	Het
Tyk2	A	G	9: 21,031,996 (GRCm39)	S360P	probably benign	Het
Uroc1	G	T	6: 90,335,883 (GRCm39)		probably benign	Het
Vmn1r122	A	T	7: 20,867,761 (GRCm39)	V98E	probably damaging	Het

Other mutations in Ero1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9371:Ero1b	UTSW	13	12,589,728 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-28