Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03209:Atf6'

413228

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: 0.139) question?

Stock #

IGL03209

Quality Score

Status

Chromosome

Chromosomal Location

170704674-170867771 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 170834894 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 266 (S266G)

Ref Sequence

ENSEMBL: ENSMUSP00000027974 (fasta)

Gene Model

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

AlphaFold

F6VAN0

Predicted Effect

probably benign
Transcript: ENSMUST00000027974
AA Change: S266G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027974
Gene: ENSMUSG00000026663
AA Change: S266G

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: ENSMUST00000179933

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
Adamts13	C	T	2: 26,992,961	A841V	probably benign	Het
Alms1	A	G	6: 85,599,973		probably benign	Het
Arc	A	T	15: 74,671,984	L130Q	probably damaging	Het
Arhgap28	C	T	17: 67,868,956	V383I	probably damaging	Het
Cd59b	A	G	2: 104,084,560	E101G	probably benign	Het
Cdc26	T	C	4: 62,395,014	K30R	possibly damaging	Het
Clns1a	A	G	7: 97,711,730	D103G	probably null	Het
Crispld2	C	A	8: 120,031,098	A394E	possibly damaging	Het
Cyp51	A	T	5: 4,104,195	L38H	probably damaging	Het
Dnah7a	T	G	1: 53,686,614		probably benign	Het
Fbxw2	T	C	2: 34,822,663	R129G	probably damaging	Het
Fgd3	T	C	13: 49,285,818	Q234R	probably damaging	Het
Gdpgp1	A	G	7: 80,239,099	T293A	probably damaging	Het
Gm4951	T	A	18: 60,246,071	I226N	probably damaging	Het
Hspa12a	T	G	19: 58,822,061		probably null	Het
Ier5l	G	T	2: 30,473,055	D319E	possibly damaging	Het
Ikzf1	T	C	11: 11,700,226	V3A	probably benign	Het
Itga2	T	C	13: 114,880,632	N180D	probably damaging	Het
Lipt1	T	C	1: 37,875,069	S69P	probably damaging	Het
Lvrn	A	G	18: 46,889,498	I734V	probably benign	Het
Man2c1	A	G	9: 57,141,830	T871A	probably benign	Het
Ndufs1	A	T	1: 63,164,737	C129S	probably damaging	Het
Neb	A	T	2: 52,290,819	F1232I	probably damaging	Het
Ngly1	T	A	14: 16,281,831	Y362*	probably null	Het
Olfr92	A	T	17: 37,111,521	S154T	probably benign	Het
Olfr993	A	T	2: 85,414,379	S167T	probably benign	Het
Patj	A	G	4: 98,465,140	D640G	probably null	Het
Plxnd1	A	T	6: 115,962,357	M1502K	probably damaging	Het
Sccpdh	T	C	1: 179,686,673	V429A	possibly damaging	Het
Slc25a48	T	C	13: 56,470,459	V303A	probably benign	Het
Sult2a6	T	C	7: 14,225,972	D212G	probably benign	Het
Tep1	A	T	14: 50,840,703		probably benign	Het
Tmem65	A	G	15: 58,784,902		probably benign	Het
Togaram2	T	C	17: 71,695,745		probably null	Het
Trim36	T	C	18: 46,167,508	T687A	probably benign	Het
Unc13b	T	A	4: 43,239,351	D3471E	probably damaging	Het
Urgcp	T	C	11: 5,717,238		probably null	Het
Zfhx4	A	T	3: 5,401,171	I2155F	probably damaging	Het
Zfp831	T	A	2: 174,645,266	V578E	probably benign	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
IGL02989:Atf6	APN	1	170788683	splice site	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