Mutagenetix > Incidental Mutation

Incidental Mutation 'R7472:Atf6'

581254

Institutional Source

Beutler Lab

Gene Symbol

Atf6

Ensembl Gene

ENSMUSG00000026663

Gene Name

activating transcription factor 6

Synonyms

9130025P16Rik, ESTM49, Atf6alpha

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R7472 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

170704674-170867771 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 170815491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 360 (S360R)

Ref Sequence

ENSEMBL: ENSMUSP00000027974 (fasta)

Gene Model

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

AlphaFold

F6VAN0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027974
AA Change: S360R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027974
Gene: ENSMUSG00000026663
AA Change: S360R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (99/100)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,540,408	I78T	probably benign	Het
4921524J17Rik	G	A	8: 85,432,809		probably benign	Het
4932415D10Rik	T	C	10: 82,283,587	I4530V	probably benign	Het
4932438H23Rik	T	C	16: 91,055,856	T131A	probably benign	Het
Acbd6	G	T	1: 155,587,467	E138*	probably null	Het
Ago3	A	G	4: 126,345,517	V847A	probably damaging	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Als2cl	C	A	9: 110,898,106	H913Q	probably benign	Het
Atm	G	C	9: 53,448,125	N2789K	possibly damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Bpifa6	A	T	2: 153,989,329	I272F	possibly damaging	Het
Cabin1	G	T	10: 75,658,647	P1633T	probably damaging	Het
Camsap2	A	G	1: 136,281,393	V119A	probably damaging	Het
Ccdc40	A	G	11: 119,263,148	E1082G	probably benign	Het
Cchcr1	C	A	17: 35,528,351	A479D	probably damaging	Het
Chpt1	C	T	10: 88,476,368	V349I	probably benign	Het
Cldn13	A	T	5: 134,915,121	I70K	probably damaging	Het
Col6a6	T	A	9: 105,782,423	D441V	probably damaging	Het
Cpne5	G	T	17: 29,204,740	T138K	probably benign	Het
Creb3l3	A	T	10: 81,089,467		probably null	Het
Cst10	C	T	2: 149,405,576	L71F	probably benign	Het
Ctsb	T	C	14: 63,138,101	V172A	probably benign	Het
Cyp19a1	A	G	9: 54,166,993	Y426H	possibly damaging	Het
Cyth4	T	C	15: 78,605,894	F72S	probably damaging	Het
D430041D05Rik	G	T	2: 104,410,139	Q9K	unknown	Het
Dnah1	T	A	14: 31,261,590	I4099F	probably damaging	Het
Dnah1	T	A	14: 31,300,791	I1130F	possibly damaging	Het
Dnah12	A	G	14: 26,856,635	K3117R	probably benign	Het
Dpf3	A	T	12: 83,272,385	S275R	probably benign	Het
Dst	A	G	1: 34,218,497	N2450S	probably benign	Het
Dync1h1	C	T	12: 110,665,675	R4460W	probably damaging	Het
Ecm1	A	C	3: 95,735,320	C414G	possibly damaging	Het
Eef2	G	A	10: 81,179,550	D302N	probably benign	Het
Egf	T	C	3: 129,686,263	D1038G	possibly damaging	Het
Epm2aip1	T	C	9: 111,272,399	S147P	probably damaging	Het
Esam	C	A	9: 37,537,567	P324T	possibly damaging	Het
Fam160b1	A	G	19: 57,368,585	Y36C	probably damaging	Het
Fbxo36	A	G	1: 84,896,580	D99G	probably damaging	Het
Fhad1	G	A	4: 141,964,626	R400C	probably benign	Het
Fndc3b	T	C	3: 27,461,744	T638A	probably benign	Het
Gba2	T	C	4: 43,568,967	T563A	probably benign	Het
Gm11237	G	A	4: 73,624,499	G79S	probably damaging	Het
Gm156	A	T	6: 129,775,382	F57I	probably benign	Het
Gm8180	T	A	14: 43,783,637	N38I	possibly damaging	Het
Hs3st4	A	G	7: 124,397,026	E305G	probably damaging	Het
Ireb2	T	A	9: 54,884,054	F191I	probably benign	Het
Irx3	T	G	8: 91,799,997	T360P	probably benign	Het
Itpr1	T	A	6: 108,403,396	I1375N	probably benign	Het
Lama4	A	T	10: 39,087,373	I1314F	possibly damaging	Het
Lamb2	C	A	9: 108,486,148	A842D	probably benign	Het
Ldlrap1	A	G	4: 134,758,996	Y51H	possibly damaging	Het
Leo1	A	G	9: 75,448,341	D321G	probably damaging	Het
Lrrc14b	A	G	13: 74,363,107	S285P	probably damaging	Het
Macf1	A	G	4: 123,433,067	V4881A	probably benign	Het
Mfsd2b	A	T	12: 4,866,481	F333I	probably damaging	Het
Micall1	T	C	15: 79,122,560	S196P	unknown	Het
Mrps21	T	C	3: 95,862,798	N73S	probably benign	Het
Msln	C	T	17: 25,750,734	V341M	possibly damaging	Het
Mybpc3	A	T	2: 91,131,656	M840L	probably damaging	Het
Myo7a	A	C	7: 98,064,793	F1613V	probably damaging	Het
Naprt	C	T	15: 75,891,758		probably null	Het
Nbr1	T	C	11: 101,571,939	V572A	probably damaging	Het
Nfkbie	A	T	17: 45,559,307	T193S	probably damaging	Het
Nlrp14	T	G	7: 107,190,044	N672K	probably benign	Het
Olfr1453	T	C	19: 13,028,075	T85A	probably benign	Het
Olfr32	A	G	2: 90,138,324	Y272H	probably damaging	Het
Olfr323	A	T	11: 58,625,434	I204N	probably damaging	Het
Olfr427	A	T	1: 174,099,733	I92F	probably damaging	Het
Olfr597	A	G	7: 103,320,449	T13A		Het
Olfr913	A	T	9: 38,594,904	I228L	probably benign	Het
Oscar	T	C	7: 3,611,150	T197A	possibly damaging	Het
P3h3	C	A	6: 124,850,631	A481S	possibly damaging	Het
Pcdh8	T	C	14: 79,771,251		probably null	Het
Pcsk9	A	T	4: 106,458,897	H116Q	probably benign	Het
Ptcd1	A	G	5: 145,154,730	F520L	possibly damaging	Het
Rapgef2	T	C	3: 79,069,273	T1261A	probably benign	Het
Ribc2	T	A	15: 85,135,245	M76K	probably benign	Het
Sin3b	A	G	8: 72,753,225	E853G	probably damaging	Het
Slit2	A	G	5: 48,256,838	D940G	probably damaging	Het
Smarcb1	T	A	10: 75,897,539	N342Y	probably damaging	Het
Smurf2	A	T	11: 106,836,095	I469N	probably damaging	Het
Spta1	T	C	1: 174,246,499	Y2335H	probably damaging	Het
Suz12	C	T	11: 80,024,975	R425C	probably benign	Het
Synpo	G	A	18: 60,629,823	A4V	probably benign	Het
Tet1	A	C	10: 62,813,350	S157A	possibly damaging	Het
Themis	A	G	10: 28,761,419	E173G	possibly damaging	Het
Timmdc1	A	T	16: 38,505,418	L197*	probably null	Het
Tmem63c	T	C	12: 87,069,158	F191S	possibly damaging	Het
Tnn	G	A	1: 160,110,347	T1200I	probably benign	Het
Traf6	A	G	2: 101,697,192	H429R	probably benign	Het
Trem3	T	C	17: 48,249,845	S115P	probably benign	Het
Trip11	A	T	12: 101,885,380	N808K	probably benign	Het
Trub2	A	T	2: 29,783,373	V106E	probably damaging	Het
Ugcg	A	G	4: 59,217,156	I227V	probably benign	Het
Vat1l	G	A	8: 114,236,799		probably null	Het
Vmn1r184	T	C	7: 26,267,399	M190T	possibly damaging	Het
Vmn2r3	T	C	3: 64,275,532	T249A	probably benign	Het
Zfp729b	A	C	13: 67,593,883	S88A	probably benign	Het
Zfp995	T	C	17: 21,880,200	Y351C	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
R6520:Atf6	UTSW	1	170867669	missense	probably benign	0.00
R7032:Atf6	UTSW	1	170799612	critical splice donor site	probably null
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

Predicted Primers

PCR Primer
(F):5'- TGAAAGCACGTGTCACCTGTC -3'
(R):5'- CGGAGGGAGAATAATTCCTTCC -3'

Sequencing Primer
(F):5'- ACACATCTGGAATGCTGATTTTC -3'
(R):5'- TGGGAAGCTGTCTTTTTAAAAGTAC -3'

Posted On

2019-10-17