Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02989:Atf6'

406870

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atf6

Ensembl Gene

ENSMUSG00000026663

Gene Name

activating transcription factor 6

Synonyms

9130025P16Rik, ESTM49, Atf6alpha

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

IGL02989

Quality Score

Status

Chromosome

Chromosomal Location

170704674-170867771 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 170788683 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027974 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027974]

AlphaFold

F6VAN0

Predicted Effect

probably benign
Transcript: ENSMUST00000027974

SMART Domains

Protein: ENSMUSP00000027974
Gene: ENSMUSG00000026663

Domain	Start	End	E-Value	Type
low complexity region	78	101	N/A	INTRINSIC
low complexity region	109	121	N/A	INTRINSIC
low complexity region	168	178	N/A	INTRINSIC
BRLZ	291	355	2.72e-16	SMART
Blast:BRLZ	384	419	5e-6	BLAST
low complexity region	445	457	N/A	INTRINSIC
low complexity region	631	650	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182787

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit increased sensitivity to dithiothreitol, thapsigargin, and tunicamycin. Mice homozygous for a conditional allele activated in islet cells exhibit reduced sensitivity to TUDCA. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	T	A	19: 20,640,058		probably benign	Het
Arhgap15	A	G	2: 43,780,736	D44G	probably damaging	Het
Arhgap35	A	T	7: 16,497,655	*1500R	probably null	Het
Arid1b	A	G	17: 5,335,047	Y1413C	probably damaging	Het
BC030867	A	G	11: 102,255,299	I134V	probably benign	Het
Cant1	T	C	11: 118,411,212	Y93C	probably damaging	Het
Cat	A	G	2: 103,472,973	F153S	probably damaging	Het
Ccdc187	G	A	2: 26,276,431	R712W	possibly damaging	Het
Clpb	T	C	7: 101,779,220	S396P	probably damaging	Het
Cntnap5a	A	G	1: 116,412,083		probably benign	Het
Dap3	G	A	3: 88,930,571		probably benign	Het
Dnah6	T	A	6: 73,069,420	D3195V	probably damaging	Het
Eprs	T	G	1: 185,418,366	F1355C	probably benign	Het
Faim2	A	G	15: 99,520,362		probably benign	Het
Fam208b	A	T	13: 3,584,820	H662Q	probably benign	Het
Fancg	A	G	4: 43,007,121		probably benign	Het
Fbxo42	T	A	4: 141,199,534	I375N	probably damaging	Het
Gabrr3	A	T	16: 59,448,008	D328V	probably damaging	Het
Gm5849	T	A	3: 90,777,800	D26V	probably damaging	Het
Gm6563	T	C	19: 23,675,870	L8P	possibly damaging	Het
Gpld1	A	G	13: 24,990,036	N815D	possibly damaging	Het
Idh2	T	A	7: 80,099,108	I142F	probably damaging	Het
Kcnh7	A	C	2: 62,721,925	N907K	probably benign	Het
Mcm3ap	A	G	10: 76,471,060	T336A	possibly damaging	Het
Olfr1211	A	T	2: 88,929,704	S204T	possibly damaging	Het
Olfr1469	C	A	19: 13,411,486	Q306K	probably benign	Het
Olfr556	T	C	7: 102,670,444	S175P	possibly damaging	Het
Pilrb1	C	A	5: 137,857,230	R133L	possibly damaging	Het
Pitpnm3	C	A	11: 72,120,186		probably benign	Het
Prkdc	C	T	16: 15,800,016	T3237I	possibly damaging	Het
Pspc1	A	G	14: 56,771,696		probably benign	Het
Rasgrp4	G	A	7: 29,148,406	E414K	probably damaging	Het
Rgs12	T	A	5: 34,965,119	L82Q	probably damaging	Het
Sh3gl3	T	C	7: 82,273,879	V117A	probably benign	Het
Shisa5	G	A	9: 109,055,994	A112T	probably damaging	Het
Tedc1	A	G	12: 113,163,321	E401G	probably benign	Het
Tsc22d1	T	C	14: 76,418,901	M940T	probably benign	Het
Vmn1r129	A	T	7: 21,360,738	V185E	probably damaging	Het
Zfp982	C	A	4: 147,512,595	D136E	possibly damaging	Het

Other mutations in Atf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Atf6	APN	1	170788606	critical splice donor site	probably null
IGL01431:Atf6	APN	1	170853002	splice site	probably benign
IGL01755:Atf6	APN	1	170788611	missense	possibly damaging	0.63
IGL02060:Atf6	APN	1	170819420	missense	probably damaging	0.99
IGL02416:Atf6	APN	1	170747157	nonsense	probably null
IGL02903:Atf6	APN	1	170799714	missense	probably benign	0.00
IGL03209:Atf6	APN	1	170834894	missense	probably benign
R0455:Atf6	UTSW	1	170834923	missense	probably benign	0.00
R0467:Atf6	UTSW	1	170794020	missense	probably damaging	1.00
R0491:Atf6	UTSW	1	170787344	critical splice donor site	probably null
R0784:Atf6	UTSW	1	170709947	missense	probably benign	0.19
R1486:Atf6	UTSW	1	170794691	missense	probably damaging	1.00
R1850:Atf6	UTSW	1	170819286	missense	probably damaging	1.00
R1945:Atf6	UTSW	1	170855141	missense	probably benign	0.00
R2164:Atf6	UTSW	1	170794735	missense	probably damaging	1.00
R3782:Atf6	UTSW	1	170794767	nonsense	probably null
R4454:Atf6	UTSW	1	170794039	missense	probably damaging	0.99
R4631:Atf6	UTSW	1	170747197	splice site	probably null
R4676:Atf6	UTSW	1	170787410	missense	probably damaging	1.00
R5772:Atf6	UTSW	1	170747189	missense	probably damaging	1.00
R5860:Atf6	UTSW	1	170841775	missense	probably damaging	1.00
R5860:Atf6	UTSW	1	170841776	missense	possibly damaging	0.95
R5950:Atf6	UTSW	1	170834879	missense	probably damaging	1.00
R6242:Atf6	UTSW	1	170793976	missense	possibly damaging	0.46
R6520:Atf6	UTSW	1	170867669	missense	probably benign	0.00
R7032:Atf6	UTSW	1	170799612	critical splice donor site	probably null
R7472:Atf6	UTSW	1	170815491	missense	possibly damaging	0.83
R7923:Atf6	UTSW	1	170794706	missense	probably benign
R8002:Atf6	UTSW	1	170819254	missense	probably benign	0.43
R8860:Atf6	UTSW	1	170852966	missense	probably null	0.95
R8956:Atf6	UTSW	1	170794007	missense	probably damaging	0.98
R9090:Atf6	UTSW	1	170794676	missense	probably damaging	1.00
R9271:Atf6	UTSW	1	170794676	missense	probably damaging	1.00
R9323:Atf6	UTSW	1	170855113	nonsense	probably null
R9500:Atf6	UTSW	1	170747139	missense	probably damaging	0.98
R9594:Atf6	UTSW	1	170840833	missense	probably benign	0.18
R9733:Atf6	UTSW	1	170834833	missense	probably benign	0.00

Posted On

2016-08-02