Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03033:Ero1b'

408527

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 #

IGL03033

Quality Score

Status

Chromosome

Chromosomal Location

12580701-12624422 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12596551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 117 (Y117C)

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: Y117C

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

SMART Domains

Protein: ENSMUSP00000071864
Gene: ENSMUSG00000057069
AA Change: Y117C

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: Y117C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000221560
AA Change: Y117C

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	A	T	6: 48,909,452 (GRCm39)	T566S	probably benign	Het
Ap3b1	A	G	13: 94,585,003 (GRCm39)	T405A	probably benign	Het
Bicd2	G	T	13: 49,533,396 (GRCm39)	V587L	probably benign	Het
Bsn	A	T	9: 107,993,192 (GRCm39)	D853E	probably damaging	Het
Cacna1i	C	A	15: 80,246,440 (GRCm39)	N611K	probably damaging	Het
Capn11	A	G	17: 45,953,473 (GRCm39)	L227P	probably damaging	Het
Copb2	A	G	9: 98,452,426 (GRCm39)	N70S	probably benign	Het
Ddb1	T	C	19: 10,603,290 (GRCm39)	V866A	possibly damaging	Het
Dst	A	G	1: 34,208,826 (GRCm39)		probably benign	Het
Esyt1	T	G	10: 128,352,252 (GRCm39)	R758S	probably benign	Het
Gm20441	A	G	10: 75,607,326 (GRCm39)	F55S	probably damaging	Het
Gm20547	A	T	17: 35,078,492 (GRCm39)	M362K	probably damaging	Het
Gucy1b2	A	G	14: 62,653,393 (GRCm39)	V334A	probably benign	Het
Hnrnph3	A	T	10: 62,853,958 (GRCm39)	F53L	probably benign	Het
Kcnk18	C	T	19: 59,223,616 (GRCm39)	P254S	probably benign	Het
Lrfn5	T	A	12: 61,886,833 (GRCm39)	L207Q	probably damaging	Het
Lrp3	T	C	7: 34,902,052 (GRCm39)	M589V	possibly damaging	Het
Nlrp1b	A	G	11: 71,052,665 (GRCm39)	V918A	probably benign	Het
Nsg2	A	G	11: 31,951,836 (GRCm39)	T29A	probably damaging	Het
Or51b4	T	A	7: 103,530,724 (GRCm39)	H242L	probably damaging	Het
Pank4	C	T	4: 155,059,172 (GRCm39)	T435I	probably damaging	Het
Prom1	C	T	5: 44,163,502 (GRCm39)		probably null	Het
Prr14	G	T	7: 127,071,135 (GRCm39)	L3F	probably damaging	Het
Rfx7	A	T	9: 72,440,271 (GRCm39)		probably benign	Het
Rhbdl3	A	G	11: 80,237,653 (GRCm39)	N295S	probably damaging	Het
Ripk3	A	G	14: 56,024,622 (GRCm39)		probably benign	Het
Ror1	A	T	4: 100,269,092 (GRCm39)	N310I	possibly damaging	Het
Rpl23a	T	C	11: 78,072,408 (GRCm39)	Y74C	possibly damaging	Het
Rtp3	A	T	9: 110,815,162 (GRCm39)		probably benign	Het
Sbno1	A	T	5: 124,514,213 (GRCm39)	N1326K	probably damaging	Het
Sepsecs	T	C	5: 52,818,018 (GRCm39)	N253S	probably damaging	Het
Setd2	A	C	9: 110,380,343 (GRCm39)	E1386A	possibly damaging	Het
Sf3b3	T	C	8: 111,537,596 (GRCm39)	I1211V	possibly damaging	Het
Sh3tc2	G	A	18: 62,107,549 (GRCm39)	V187M	possibly damaging	Het
Slc30a6	G	T	17: 74,716,373 (GRCm39)	E136*	probably null	Het
Sptan1	T	A	2: 29,881,045 (GRCm39)	V438E	probably damaging	Het
Stab2	A	G	10: 86,832,667 (GRCm39)		probably null	Het
Sult2a1	T	A	7: 13,566,635 (GRCm39)		probably benign	Het
Tmem198	A	G	1: 75,459,612 (GRCm39)	D189G	possibly damaging	Het
Tnfrsf8	C	A	4: 145,019,219 (GRCm39)	L205F	possibly damaging	Het
Vmn1r68	T	A	7: 10,262,074 (GRCm39)	E8V	probably damaging	Het
Wnk3	G	A	X: 150,059,924 (GRCm39)	D742N	probably damaging	Het
Xpc	A	T	6: 91,468,297 (GRCm39)		probably null	Het
Zfp113	A	T	5: 138,149,458 (GRCm39)		probably benign	Het
Zfp120	A	T	2: 149,961,794 (GRCm39)	D51E	probably benign	Het
Zfp473	C	T	7: 44,382,522 (GRCm39)	V603M	probably benign	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
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

2016-08-02