Mutagenetix > Incidental Mutation

Incidental Mutation 'R0090:Ern1'

20162

Institutional Source

Beutler Lab

Gene Symbol

Ern1

Ensembl Gene

ENSMUSG00000020715

Gene Name

endoplasmic reticulum to nucleus signalling 1

Synonyms

Ire1p, 9030414B18Rik, Ire1a, Ire1alpha

MMRRC Submission

038377-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0090 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

106285476-106378678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106296649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 767 (V767A)

Ref Sequence

ENSEMBL: ENSMUSP00000001059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001059]

AlphaFold

Q9EQY0

PDB Structure

Crystal structure of murine IRE1 in complex with MKC9989 inhibitor [X-RAY DIFFRACTION]
Crystal structure of murine IRE1 in complex with OICR464 inhibitor [X-RAY DIFFRACTION]
Crystal structure of murine IRE1 in complex with OICR573 inhibitor [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000001059
AA Change: V767A

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

SMART Domains

Protein: ENSMUSP00000001059
Gene: ENSMUSG00000020715
AA Change: V767A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PQQ	28	59	3.46e-5	SMART
PQQ	110	142	1.11e-3	SMART
PQQ	148	180	7.84e-4	SMART
PQQ	191	223	3.26e-1	SMART
PQQ	279	310	5.01e1	SMART
low complexity region	471	501	N/A	INTRINSIC
low complexity region	513	551	N/A	INTRINSIC
Pfam:Pkinase	571	832	1.8e-44	PFAM
Pfam:Pkinase_Tyr	572	829	8.7e-26	PFAM
PUG	895	952	5.25e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131895

Meta Mutation Damage Score

0.8978

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.7%
20x: 91.4%

Validation Efficiency

99% (90/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the ER to nucleus signalling 1 protein, a human homologue of the yeast Ire1 gene product. This protein possesses intrinsic kinase activity and an endoribonuclease activity and it is important in altering gene expression as a response to endoplasmic reticulum-based stress signals. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null mutations display embryonic lethality during organogenesis. Homozygous mice may also display decreased embryo size, impaired hematopoiesis, and/or placental abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4933427I04Rik	A	G	4: 123,754,775 (GRCm39)	T230A	possibly damaging	Het
Acsm1	T	C	7: 119,261,412 (GRCm39)		probably benign	Het
Acta1	T	C	8: 124,620,396 (GRCm39)	N14S	probably damaging	Het
Aff4	A	G	11: 53,283,609 (GRCm39)	T362A	probably benign	Het
Aggf1	A	G	13: 95,501,467 (GRCm39)	I305T	probably benign	Het
Ap4b1	A	G	3: 103,727,745 (GRCm39)	D325G	possibly damaging	Het
Ap4e1	C	T	2: 126,906,905 (GRCm39)	T1055I	possibly damaging	Het
Arhgef2	A	T	3: 88,546,655 (GRCm39)	Q496L	probably damaging	Het
Arhgef28	A	G	13: 98,211,618 (GRCm39)	F122L	probably damaging	Het
Baiap3	G	A	17: 25,469,044 (GRCm39)		probably benign	Het
Casp8ap2	T	A	4: 32,640,327 (GRCm39)	H460Q	probably damaging	Het
Casz1	A	G	4: 149,017,868 (GRCm39)	T386A	probably benign	Het
Cd53	A	T	3: 106,674,725 (GRCm39)	V114E	possibly damaging	Het
Celsr2	A	G	3: 108,300,643 (GRCm39)		probably benign	Het
Cfap300	T	A	9: 8,027,184 (GRCm39)	N118I	probably benign	Het
Chaf1b	G	T	16: 93,684,012 (GRCm39)	A88S	possibly damaging	Het
Cldn10	A	T	14: 119,111,612 (GRCm39)	Y194F	probably damaging	Het
Clec2e	A	C	6: 129,072,181 (GRCm39)		probably null	Het
Cmpk2	A	T	12: 26,528,021 (GRCm39)	T413S	probably benign	Het
Col9a1	T	A	1: 24,262,643 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,405,139 (GRCm39)	Q2468K	probably benign	Het
Ddx60	A	G	8: 62,395,327 (GRCm39)	D88G	probably damaging	Het
Dnah8	A	G	17: 31,003,064 (GRCm39)	R3588G	probably benign	Het
Ect2	T	C	3: 27,169,625 (GRCm39)	T774A	probably benign	Het
Ect2	C	T	3: 27,192,651 (GRCm39)	E431K	probably null	Het
Fbln1	A	C	15: 85,108,489 (GRCm39)	E75A	possibly damaging	Het
Fgf5	C	T	5: 98,409,846 (GRCm39)	R132*	probably null	Het
Folh1	T	C	7: 86,375,076 (GRCm39)		probably benign	Het
Gdf15	A	T	8: 71,082,334 (GRCm39)	H257Q	probably damaging	Het
Ghitm	T	C	14: 36,844,176 (GRCm39)	T322A	probably benign	Het
Gm5709	A	G	3: 59,526,192 (GRCm39)		noncoding transcript	Het
Hbb-y	C	T	7: 103,501,950 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,316,210 (GRCm39)	D3771V	probably damaging	Het
Hspa12a	T	C	19: 58,787,941 (GRCm39)	D627G	probably benign	Het
Idh2	T	C	7: 79,747,662 (GRCm39)	E286G	probably damaging	Het
Idh3b	C	A	2: 130,122,899 (GRCm39)	A297S	probably benign	Het
Igsf3	A	G	3: 101,342,968 (GRCm39)	E535G	probably damaging	Het
Ilf3	T	A	9: 21,306,710 (GRCm39)	D314E	probably damaging	Het
Itgb8	A	G	12: 119,166,298 (GRCm39)	S78P	probably benign	Het
Itih5	G	A	2: 10,169,495 (GRCm39)	V31I	probably benign	Het
Kcnj2	T	C	11: 110,963,853 (GRCm39)	V415A	probably benign	Het
Kin	A	G	2: 10,090,584 (GRCm39)	Q53R	possibly damaging	Het
Krt78	A	T	15: 101,856,272 (GRCm39)	M513K	probably benign	Het
Krtap4-8	A	T	11: 99,671,312 (GRCm39)		probably benign	Het
Ltbr	T	C	6: 125,286,412 (GRCm39)		probably benign	Het
Mgat4a	G	A	1: 37,529,414 (GRCm39)	T146I	probably damaging	Het
Mrps2	G	C	2: 28,358,268 (GRCm39)	W19C	probably damaging	Het
Mthfs	T	C	9: 89,093,344 (GRCm39)	S33P	probably damaging	Het
Myh6	T	C	14: 55,196,161 (GRCm39)	D546G	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ndst2	T	C	14: 20,777,335 (GRCm39)	T553A	probably damaging	Het
Nlrp12	T	C	7: 3,288,664 (GRCm39)	E616G	probably damaging	Het
Nrde2	T	C	12: 100,095,545 (GRCm39)		probably benign	Het
Nup210l	G	A	3: 90,119,086 (GRCm39)	V1832I	probably benign	Het
Or1e1c	G	A	11: 73,266,402 (GRCm39)	V276I	probably benign	Het
Or4k77	A	T	2: 111,199,639 (GRCm39)	I221F	probably damaging	Het
Pcm1	A	T	8: 41,709,078 (GRCm39)	E9D	probably damaging	Het
Pear1	A	T	3: 87,661,649 (GRCm39)	D541E	possibly damaging	Het
Peg10	A	G	6: 4,756,063 (GRCm39)		probably benign	Het
Prss1	G	A	6: 41,438,166 (GRCm39)	R31Q	probably benign	Het
Ptpn13	T	C	5: 103,717,369 (GRCm39)	V1837A	probably damaging	Het
Rasgrp3	A	G	17: 75,805,456 (GRCm39)	D149G	probably damaging	Het
Reg3d	A	T	6: 78,355,466 (GRCm39)	H8Q	possibly damaging	Het
Rhox4f	A	C	X: 36,789,122 (GRCm39)	V15G	probably benign	Het
Sacs	T	A	14: 61,442,889 (GRCm39)	L1645H	probably damaging	Het
Slc16a5	A	T	11: 115,355,751 (GRCm39)	S71C	probably damaging	Het
Slc9a3	A	G	13: 74,306,847 (GRCm39)	E324G	probably damaging	Het
Smgc	T	C	15: 91,743,960 (GRCm39)	V574A	possibly damaging	Het
Stac3	C	T	10: 127,339,799 (GRCm39)		probably benign	Het
Supv3l1	A	G	10: 62,265,485 (GRCm39)	L685P	probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tas2r125	G	T	6: 132,887,361 (GRCm39)	A250S	probably benign	Het
Tdrd6	C	T	17: 43,939,132 (GRCm39)	V639I	probably benign	Het
Thap12	T	G	7: 98,365,100 (GRCm39)	W423G	probably damaging	Het
Tmem245	T	C	4: 56,899,410 (GRCm39)	I217V	probably benign	Het
Trip12	T	A	1: 84,709,857 (GRCm39)		probably benign	Het
Tshz3	T	C	7: 36,468,317 (GRCm39)	V102A	probably benign	Het
Ubap1	T	C	4: 41,379,826 (GRCm39)	S347P	probably damaging	Het
Usp10	C	T	8: 120,679,935 (GRCm39)	Q612*	probably null	Het
Vmn2r72	T	C	7: 85,404,084 (GRCm39)	I36V	probably benign	Het
Vps37a	T	C	8: 40,980,030 (GRCm39)	I63T	possibly damaging	Het
Whrn	C	A	4: 63,350,969 (GRCm39)	R9L	possibly damaging	Het
Xrcc1	T	C	7: 24,269,642 (GRCm39)	Y401H	probably damaging	Het
Ylpm1	GCCTAAGCAGCAACCTAAG	GCCTAAG	12: 85,075,814 (GRCm39)		probably benign	Het
Zfhx3	G	A	8: 109,676,689 (GRCm39)	D2580N	possibly damaging	Het
Zfhx4	A	G	3: 5,308,685 (GRCm39)	N637S	probably damaging	Het
Zfp268	A	T	4: 145,349,195 (GRCm39)	K211*	probably null	Het
Zyg11a	A	T	4: 108,058,544 (GRCm39)		probably benign	Het

Other mutations in Ern1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00825:Ern1	APN	11	106,312,793 (GRCm39)	missense	probably benign	0.02
IGL01938:Ern1	APN	11	106,302,483 (GRCm39)	missense	probably benign
IGL02813:Ern1	APN	11	106,314,251 (GRCm39)	missense	probably damaging	1.00
IGL02928:Ern1	APN	11	106,296,705 (GRCm39)	splice site	probably benign
IGL02931:Ern1	APN	11	106,314,266 (GRCm39)	missense	probably damaging	1.00
IGL03153:Ern1	APN	11	106,300,924 (GRCm39)	missense	possibly damaging	0.63
Immoderate	UTSW	11	106,310,868 (GRCm39)	missense	possibly damaging	0.93
Militant	UTSW	11	106,302,478 (GRCm39)	missense	probably damaging	1.00
K7371:Ern1	UTSW	11	106,291,101 (GRCm39)	missense	probably damaging	1.00
R0391:Ern1	UTSW	11	106,298,004 (GRCm39)	nonsense	probably null
R0411:Ern1	UTSW	11	106,289,412 (GRCm39)	missense	probably benign
R0627:Ern1	UTSW	11	106,289,519 (GRCm39)	missense	probably benign	0.00
R1416:Ern1	UTSW	11	106,312,806 (GRCm39)	splice site	probably benign
R1831:Ern1	UTSW	11	106,290,668 (GRCm39)	splice site	probably null
R1837:Ern1	UTSW	11	106,349,783 (GRCm39)	missense	probably damaging	1.00
R1944:Ern1	UTSW	11	106,312,776 (GRCm39)	missense	probably damaging	1.00
R1945:Ern1	UTSW	11	106,312,776 (GRCm39)	missense	probably damaging	1.00
R1954:Ern1	UTSW	11	106,312,800 (GRCm39)	splice site	probably benign
R1957:Ern1	UTSW	11	106,317,723 (GRCm39)	missense	probably damaging	1.00
R2192:Ern1	UTSW	11	106,300,750 (GRCm39)	missense	probably benign
R4276:Ern1	UTSW	11	106,298,007 (GRCm39)	missense	probably benign
R4277:Ern1	UTSW	11	106,298,007 (GRCm39)	missense	probably benign
R4471:Ern1	UTSW	11	106,310,868 (GRCm39)	missense	possibly damaging	0.93
R4583:Ern1	UTSW	11	106,298,031 (GRCm39)	missense	probably damaging	1.00
R4731:Ern1	UTSW	11	106,325,676 (GRCm39)	intron	probably benign
R5177:Ern1	UTSW	11	106,302,601 (GRCm39)	missense	probably benign	0.01
R5489:Ern1	UTSW	11	106,298,355 (GRCm39)	missense	probably damaging	1.00
R5538:Ern1	UTSW	11	106,312,727 (GRCm39)	missense	possibly damaging	0.83
R5806:Ern1	UTSW	11	106,289,531 (GRCm39)	missense	probably damaging	0.96
R5922:Ern1	UTSW	11	106,312,556 (GRCm39)	missense	probably damaging	0.97
R5931:Ern1	UTSW	11	106,317,699 (GRCm39)	missense	possibly damaging	0.86
R5990:Ern1	UTSW	11	106,302,595 (GRCm39)	missense	probably benign
R6149:Ern1	UTSW	11	106,296,641 (GRCm39)	nonsense	probably null
R6253:Ern1	UTSW	11	106,317,734 (GRCm39)	missense	possibly damaging	0.89
R6721:Ern1	UTSW	11	106,302,478 (GRCm39)	missense	probably damaging	1.00
R6957:Ern1	UTSW	11	106,294,365 (GRCm39)	missense	probably damaging	1.00
R7362:Ern1	UTSW	11	106,327,949 (GRCm39)	missense	probably damaging	1.00
R7387:Ern1	UTSW	11	106,312,778 (GRCm39)	missense	probably damaging	0.98
R7494:Ern1	UTSW	11	106,298,361 (GRCm39)	missense	probably damaging	1.00
R7514:Ern1	UTSW	11	106,300,719 (GRCm39)	critical splice donor site	probably null
R7767:Ern1	UTSW	11	106,291,134 (GRCm39)	missense	probably damaging	1.00
R7811:Ern1	UTSW	11	106,325,694 (GRCm39)	missense	unknown
R7869:Ern1	UTSW	11	106,349,845 (GRCm39)	nonsense	probably null
R8750:Ern1	UTSW	11	106,312,776 (GRCm39)	missense	probably damaging	1.00
R9129:Ern1	UTSW	11	106,300,946 (GRCm39)	missense	probably benign
R9369:Ern1	UTSW	11	106,305,259 (GRCm39)	missense	probably benign	0.09
R9546:Ern1	UTSW	11	106,300,853 (GRCm39)	missense	probably benign	0.21
R9688:Ern1	UTSW	11	106,349,836 (GRCm39)	missense	possibly damaging	0.52
R9735:Ern1	UTSW	11	106,312,708 (GRCm39)	nonsense	probably null
X0021:Ern1	UTSW	11	106,289,432 (GRCm39)	missense	probably damaging	1.00
X0022:Ern1	UTSW	11	106,349,745 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCTCTGTATGGCTCAGCACTTC -3'
(R):5'- CATCCCAGGTTGTCAGCCCATAAG -3'

Sequencing Primer
(F):5'- ACTTCCTGAGGCCAGACAG -3'
(R):5'- GTTGTCAGCCCATAAGCCAATG -3'

Posted On

2013-04-11