Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02416:Atf6'

292454

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: 0.153) question?

Stock #

IGL02416

Quality Score

Status

Chromosome

Chromosomal Location

170704674-170867771 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 170747157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 571 (K571*)

Ref Sequence

ENSEMBL: ENSMUSP00000027974 (fasta)

Gene Model

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

AlphaFold

F6VAN0

Predicted Effect

probably null
Transcript: ENSMUST00000027974
AA Change: K571*

SMART Domains

Protein: ENSMUSP00000027974
Gene: ENSMUSG00000026663
AA Change: K571*

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: ENSMUST00000180190

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
Adamdec1	T	C	14: 68,572,833	N227S	probably null	Het
Adgrf5	T	G	17: 43,444,980		probably null	Het
Arid2	G	A	15: 96,350,055	G116D	possibly damaging	Het
Arsa	T	A	15: 89,474,788	H225L	probably damaging	Het
Bicdl1	A	C	5: 115,663,885	L38R	probably damaging	Het
Cct4	T	C	11: 23,002,868	S515P	probably damaging	Het
Celsr3	A	C	9: 108,832,119	D1388A	probably damaging	Het
Clca2	T	C	3: 145,085,016	T432A	probably benign	Het
Des	T	A	1: 75,362,728		probably null	Het
Dock11	T	A	X: 36,020,086	V1119E	probably damaging	Het
Dysf	A	G	6: 84,192,914	N1763S	possibly damaging	Het
Emilin1	A	G	5: 30,917,788	S458G	possibly damaging	Het
Fhdc1	T	G	3: 84,445,228	M897L	probably benign	Het
Foxj1	T	C	11: 116,332,003	S325G	probably benign	Het
Gm5407	A	G	16: 49,296,887		noncoding transcript	Het
Gm6576	T	C	15: 27,025,987		noncoding transcript	Het
Hells	G	A	19: 38,964,627	S743N	probably benign	Het
Ighv2-9-1	A	T	12: 113,770,111	L30Q	probably damaging	Het
Iqgap1	A	T	7: 80,726,038	L1363H	probably damaging	Het
Lrp2	T	C	2: 69,469,633	D3025G	probably damaging	Het
Mef2d	C	T	3: 88,156,502	R79C	probably damaging	Het
Mical1	G	T	10: 41,484,810		probably null	Het
Micu2	A	T	14: 57,923,965	V300E	probably damaging	Het
Mmgt2	T	C	11: 62,664,877	L17P	probably damaging	Het
Olfr1182	A	G	2: 88,446,830	I36T	probably benign	Het
Olfr371	T	A	8: 85,231,033	C179*	probably null	Het
Olfr873	A	T	9: 20,300,245	E15V	probably benign	Het
Pigb	A	G	9: 73,017,432	S482P	probably benign	Het
Pkd1l2	T	A	8: 117,040,835	T1239S	possibly damaging	Het
Pou1f1	T	C	16: 65,531,956	I187T	probably damaging	Het
Prox1	C	T	1: 190,161,130	A373T	probably benign	Het
Rabgap1	T	C	2: 37,561,950	I954T	probably benign	Het
Scube3	T	G	17: 28,164,136	C429W	probably damaging	Het
Slco6b1	T	A	1: 96,924,333		noncoding transcript	Het
Strc	A	T	2: 121,369,058	I1300N	probably damaging	Het
Tdrd6	T	A	17: 43,624,738	R1806S	probably benign	Het
Trpm8	T	A	1: 88,360,716	L860Q	probably damaging	Het
Vmn1r8	A	G	6: 57,036,620	R219G	probably damaging	Het
Wdr48	A	G	9: 119,924,760	S649G	probably 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
IGL02903:Atf6	APN	1	170799714	missense	probably benign	0.00
IGL02989:Atf6	APN	1	170788683	splice site	probably benign
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

2015-04-16