Mutagenetix > Incidental Mutations

Incidental Mutation 'R6520:Atf6'

521061

Institutional Source

Beutler Lab

Gene Symbol

Atf6

Ensembl Gene

ENSMUSG00000026663

Gene Name

activating transcription factor 6

Synonyms

9130025P16Rik, ESTM49, Atf6alpha

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R6520 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

170704674-170867771 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 170867669 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 11 (H11Q)

Ref Sequence

ENSEMBL: ENSMUSP00000027974 (fasta)

Gene Model

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

AlphaFold

F6VAN0

Predicted Effect

probably benign
Transcript: ENSMUST00000027974
AA Change: H11Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027974
Gene: ENSMUSG00000026663
AA Change: H11Q

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: ENSMUST00000171747

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037H04Rik	G	T	2: 131,147,254	H111N	probably damaging	Het
1700093K21Rik	T	C	11: 23,517,285	D116G	possibly damaging	Het
Adam22	C	T	5: 8,116,635	V699M	probably damaging	Het
Adh7	A	G	3: 138,224,010	Y149C	probably damaging	Het
Angptl3	A	C	4: 99,037,848	N405T	probably benign	Het
Ank3	A	G	10: 69,988,387	H180R	probably damaging	Het
Apob	T	A	12: 7,983,124	I159N	probably damaging	Het
Arhgap24	T	C	5: 102,880,793	V185A	probably benign	Het
Atxn3	C	A	12: 101,934,401	D208Y	probably damaging	Het
Brd9	G	A	13: 73,942,794	R273K	probably benign	Het
Cbfa2t3	T	A	8: 122,635,801	R302W	probably benign	Het
Ccdc175	C	A	12: 72,140,030	G347C	probably damaging	Het
Ccdc87	A	G	19: 4,841,789	K770E	probably damaging	Het
Ccl17	T	C	8: 94,810,550	F27L	probably benign	Het
Cd3g	A	T	9: 44,971,315		probably null	Het
Cep350	A	G	1: 155,933,336	V498A	probably benign	Het
Cfap45	A	G	1: 172,540,584	D381G	probably damaging	Het
Cfap46	A	G	7: 139,614,405		probably null	Het
Cnrip1	T	A	11: 17,078,536	M156K	probably damaging	Het
Col23a1	T	C	11: 51,549,725		probably null	Het
Col4a1	C	T	8: 11,219,152	G933S	probably damaging	Het
Col5a3	C	T	9: 20,774,052	V1443I	unknown	Het
Col6a6	T	C	9: 105,785,825	E171G	possibly damaging	Het
Dennd1a	A	T	2: 37,961,747		probably null	Het
Dlk2	C	T	17: 46,302,512	T188I	probably damaging	Het
Dusp8	A	G	7: 142,083,681	I203T	probably damaging	Het
Eno2	C	T	6: 124,767,715	R56H	probably damaging	Het
Erich3	A	T	3: 154,763,465	T1185S	probably damaging	Het
Evi5l	A	T	8: 4,205,906	Q575L	possibly damaging	Het
Fam187a	T	A	11: 102,885,875	H168Q	possibly damaging	Het
Fat2	T	A	11: 55,284,988	E1633V	probably damaging	Het
Fbln2	G	A	6: 91,259,659	D719N	probably damaging	Het
Fbn2	A	T	18: 58,102,390	S672T	probably damaging	Het
Gas8	C	G	8: 123,526,474	A187G	probably benign	Het
Gm2696	G	A	10: 77,836,498		probably benign	Het
Gnl1	A	T	17: 35,982,953	K272M	probably benign	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Hemgn	T	G	4: 46,396,466	K257Q	probably damaging	Het
Hgsnat	T	C	8: 25,953,300	Y474C	probably damaging	Het
Hoxc4	T	C	15: 103,034,954	S78P	probably benign	Het
Igkv14-100	T	A	6: 68,519,234	L37Q	probably damaging	Het
Iqck	A	T	7: 118,941,631	K251M	probably damaging	Het
Itgal	A	T	7: 127,330,331	Q1140L	probably benign	Het
Itpka	A	G	2: 119,750,778	R431G	probably benign	Het
Jade1	A	G	3: 41,604,482	N333D	possibly damaging	Het
Jmjd7	A	G	2: 120,031,319	H181R	probably damaging	Het
Jmy	A	G	13: 93,454,039	S519P	probably benign	Het
Klra10	T	A	6: 130,275,792	H173L	probably benign	Het
Krt72	T	G	15: 101,781,046	I284L	probably benign	Het
Krt78	C	A	15: 101,951,771	V237F	probably benign	Het
Mapkapk3	G	A	9: 107,257,449	T296M	probably damaging	Het
Mcmbp	A	C	7: 128,712,727	V255G	possibly damaging	Het
Mcoln1	T	G	8: 3,505,855	M50R	probably damaging	Het
Mocos	T	A	18: 24,666,390	V227E	probably benign	Het
Mpeg1	A	G	19: 12,461,958	E260G	probably benign	Het
Mrc1	A	T	2: 14,307,949	N894I	probably damaging	Het
Mroh7	A	G	4: 106,721,263	S73P	probably benign	Het
Myo3a	A	T	2: 22,399,926	I690L	possibly damaging	Het
Naa50	T	G	16: 44,159,509	F87V	probably damaging	Het
Ndufs6	G	T	13: 73,328,352	T32K	probably damaging	Het
Nfe2l2	A	G	2: 75,676,568	V396A	probably benign	Het
Nptn	A	G	9: 58,643,734	E348G	probably damaging	Het
Nsun4	A	T	4: 116,044,738	L177Q	probably damaging	Het
Olfr1083-ps	A	G	2: 86,607,118	L151P	unknown	Het
Olfr504	A	G	7: 108,564,839	*319Q	probably null	Het
Olfr974	T	C	9: 39,942,362	I34T	possibly damaging	Het
Plekha7	A	G	7: 116,164,482	V233A	probably benign	Het
Polq	C	A	16: 37,060,377	Q968K	possibly damaging	Het
Prmt7	C	T	8: 106,234,884	T143M	probably damaging	Het
Ptprc	G	A	1: 138,080,143	Q886*	probably null	Het
Rbp7	C	A	4: 149,452,914	V36L	possibly damaging	Het
Rev3l	A	T	10: 39,822,702	N1065I	probably benign	Het
Scamp5	A	T	9: 57,447,206		probably null	Het
Sec16a	A	G	2: 26,426,106	S1698P	probably damaging	Het
Spr	C	A	6: 85,137,492	R85L	probably benign	Het
Sptlc2	A	C	12: 87,355,662	N163K	probably benign	Het
Stk10	C	T	11: 32,588,839	T226M	probably damaging	Het
Sv2c	A	G	13: 95,986,721	Y415H	probably benign	Het
Tet1	A	G	10: 62,880,013	M1T	probably null	Het
Tnnt1	T	A	7: 4,509,061	K150*	probably null	Het
Trappc10	C	T	10: 78,201,453	V839M	probably benign	Het
Ubap2	T	C	4: 41,195,155	N1131S	probably damaging	Het
Upk2	T	C	9: 44,453,506	E132G	probably damaging	Het
Vmn2r117	A	T	17: 23,460,219	V677D	probably damaging	Het
Vps13a	A	T	19: 16,725,579	L670H	probably damaging	Het
Wwc1	C	T	11: 35,853,437	E853K	probably benign	Het
Zfp512	G	A	5: 31,466,640	R67H	probably damaging	Het
Zfp804b	T	A	5: 6,769,283	H1260L	probably damaging	Het
Zzef1	C	A	11: 72,826,065	N360K	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TATTGCTACGGCCAGGACAG -3'
(R):5'- AGCTTTGGATCCCAGTTCC -3'

Sequencing Primer
(F):5'- TACGGCCAGGACAGAAGCC -3'
(R):5'- GTGAGATAGTTTGCCTCCGCC -3'

Posted On

2018-06-06