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

Atf6alpha, 9130025P16Rik, ESTM49

MMRRC Submission

045546-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R7472 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

170532243-170695340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 170643060 bp (GRCm39)

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: 19,545,219 (GRCm39)	I78T	probably benign	Het
4921524J17Rik	G	A	8: 86,159,438 (GRCm39)		probably benign	Het
4932438H23Rik	T	C	16: 90,852,744 (GRCm39)	T131A	probably benign	Het
Acbd6	G	T	1: 155,463,213 (GRCm39)	E138*	probably null	Het
Ago3	A	G	4: 126,239,310 (GRCm39)	V847A	probably damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Als2cl	C	A	9: 110,727,174 (GRCm39)	H913Q	probably benign	Het
Atm	G	C	9: 53,359,425 (GRCm39)	N2789K	possibly damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Bpifa6	A	T	2: 153,831,249 (GRCm39)	I272F	possibly damaging	Het
Cabin1	G	T	10: 75,494,481 (GRCm39)	P1633T	probably damaging	Het
Camsap2	A	G	1: 136,209,131 (GRCm39)	V119A	probably damaging	Het
Ccdc40	A	G	11: 119,153,974 (GRCm39)	E1082G	probably benign	Het
Cchcr1	C	A	17: 35,839,248 (GRCm39)	A479D	probably damaging	Het
Chpt1	C	T	10: 88,312,230 (GRCm39)	V349I	probably benign	Het
Cldn13	A	T	5: 134,943,975 (GRCm39)	I70K	probably damaging	Het
Col6a6	T	A	9: 105,659,622 (GRCm39)	D441V	probably damaging	Het
Cpne5	G	T	17: 29,423,714 (GRCm39)	T138K	probably benign	Het
Creb3l3	A	T	10: 80,925,301 (GRCm39)		probably null	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Ctsb	T	C	14: 63,375,550 (GRCm39)	V172A	probably benign	Het
Cyp19a1	A	G	9: 54,074,277 (GRCm39)	Y426H	possibly damaging	Het
Cyth4	T	C	15: 78,490,094 (GRCm39)	F72S	probably damaging	Het
D430041D05Rik	G	T	2: 104,240,484 (GRCm39)	Q9K	unknown	Het
Dnah1	T	A	14: 30,983,547 (GRCm39)	I4099F	probably damaging	Het
Dnah1	T	A	14: 31,022,748 (GRCm39)	I1130F	possibly damaging	Het
Dnah12	A	G	14: 26,578,592 (GRCm39)	K3117R	probably benign	Het
Dpf3	A	T	12: 83,319,159 (GRCm39)	S275R	probably benign	Het
Dst	A	G	1: 34,257,578 (GRCm39)	N2450S	probably benign	Het
Dync1h1	C	T	12: 110,632,109 (GRCm39)	R4460W	probably damaging	Het
Ecm1	A	C	3: 95,642,632 (GRCm39)	C414G	possibly damaging	Het
Eef2	G	A	10: 81,015,384 (GRCm39)	D302N	probably benign	Het
Egf	T	C	3: 129,479,912 (GRCm39)	D1038G	possibly damaging	Het
Epm2aip1	T	C	9: 111,101,467 (GRCm39)	S147P	probably damaging	Het
Esam	C	A	9: 37,448,863 (GRCm39)	P324T	possibly damaging	Het
Fbxo36	A	G	1: 84,874,301 (GRCm39)	D99G	probably damaging	Het
Fhad1	G	A	4: 141,691,937 (GRCm39)	R400C	probably benign	Het
Fhip2a	A	G	19: 57,357,017 (GRCm39)	Y36C	probably damaging	Het
Fndc3b	T	C	3: 27,515,893 (GRCm39)	T638A	probably benign	Het
Gba2	T	C	4: 43,568,967 (GRCm39)	T563A	probably benign	Het
Gm8180	T	A	14: 44,021,094 (GRCm39)	N38I	possibly damaging	Het
Hs3st4	A	G	7: 123,996,249 (GRCm39)	E305G	probably damaging	Het
Ireb2	T	A	9: 54,791,338 (GRCm39)	F191I	probably benign	Het
Irx3	T	G	8: 92,526,625 (GRCm39)	T360P	probably benign	Het
Itpr1	T	A	6: 108,380,357 (GRCm39)	I1375N	probably benign	Het
Klrh1	A	T	6: 129,752,345 (GRCm39)	F57I	probably benign	Het
Lama4	A	T	10: 38,963,369 (GRCm39)	I1314F	possibly damaging	Het
Lamb2	C	A	9: 108,363,347 (GRCm39)	A842D	probably benign	Het
Ldlrap1	A	G	4: 134,486,307 (GRCm39)	Y51H	possibly damaging	Het
Leo1	A	G	9: 75,355,623 (GRCm39)	D321G	probably damaging	Het
Lrrc14b	A	G	13: 74,511,226 (GRCm39)	S285P	probably damaging	Het
Macf1	A	G	4: 123,326,860 (GRCm39)	V4881A	probably benign	Het
Mfsd2b	A	T	12: 4,916,481 (GRCm39)	F333I	probably damaging	Het
Micall1	T	C	15: 79,006,760 (GRCm39)	S196P	unknown	Het
Mrps21	T	C	3: 95,770,110 (GRCm39)	N73S	probably benign	Het
Msantd5f5	G	A	4: 73,542,736 (GRCm39)	G79S	probably damaging	Het
Msln	C	T	17: 25,969,708 (GRCm39)	V341M	possibly damaging	Het
Mybpc3	A	T	2: 90,962,001 (GRCm39)	M840L	probably damaging	Het
Myo7a	A	C	7: 97,714,000 (GRCm39)	F1613V	probably damaging	Het
Naprt	C	T	15: 75,763,607 (GRCm39)		probably null	Het
Nbr1	T	C	11: 101,462,765 (GRCm39)	V572A	probably damaging	Het
Nfkbie	A	T	17: 45,870,233 (GRCm39)	T193S	probably damaging	Het
Nlrp14	T	G	7: 106,789,251 (GRCm39)	N672K	probably benign	Het
Or11l3	A	T	11: 58,516,260 (GRCm39)	I204N	probably damaging	Het
Or4b1d	A	G	2: 89,968,668 (GRCm39)	Y272H	probably damaging	Het
Or52ab2	A	G	7: 102,969,656 (GRCm39)	T13A		Het
Or5b101	T	C	19: 13,005,439 (GRCm39)	T85A	probably benign	Het
Or6k14	A	T	1: 173,927,299 (GRCm39)	I92F	probably damaging	Het
Or8b49	A	T	9: 38,506,200 (GRCm39)	I228L	probably benign	Het
Oscar	T	C	7: 3,614,149 (GRCm39)	T197A	possibly damaging	Het
P3h3	C	A	6: 124,827,594 (GRCm39)	A481S	possibly damaging	Het
Pcdh8	T	C	14: 80,008,691 (GRCm39)		probably null	Het
Pcsk9	A	T	4: 106,316,094 (GRCm39)	H116Q	probably benign	Het
Ptcd1	A	G	5: 145,091,540 (GRCm39)	F520L	possibly damaging	Het
Rapgef2	T	C	3: 78,976,580 (GRCm39)	T1261A	probably benign	Het
Ribc2	T	A	15: 85,019,446 (GRCm39)	M76K	probably benign	Het
Sin3b	A	G	8: 73,479,853 (GRCm39)	E853G	probably damaging	Het
Slit2	A	G	5: 48,414,180 (GRCm39)	D940G	probably damaging	Het
Smarcb1	T	A	10: 75,733,373 (GRCm39)	N342Y	probably damaging	Het
Smurf2	A	T	11: 106,726,921 (GRCm39)	I469N	probably damaging	Het
Spata31h1	T	C	10: 82,119,421 (GRCm39)	I4530V	probably benign	Het
Spta1	T	C	1: 174,074,065 (GRCm39)	Y2335H	probably damaging	Het
Suz12	C	T	11: 79,915,801 (GRCm39)	R425C	probably benign	Het
Synpo	G	A	18: 60,762,895 (GRCm39)	A4V	probably benign	Het
Tet1	A	C	10: 62,649,129 (GRCm39)	S157A	possibly damaging	Het
Themis	A	G	10: 28,637,415 (GRCm39)	E173G	possibly damaging	Het
Timmdc1	A	T	16: 38,325,780 (GRCm39)	L197*	probably null	Het
Tmem63c	T	C	12: 87,115,932 (GRCm39)	F191S	possibly damaging	Het
Tnn	G	A	1: 159,937,917 (GRCm39)	T1200I	probably benign	Het
Traf6	A	G	2: 101,527,537 (GRCm39)	H429R	probably benign	Het
Trem3	T	C	17: 48,556,873 (GRCm39)	S115P	probably benign	Het
Trip11	A	T	12: 101,851,639 (GRCm39)	N808K	probably benign	Het
Trub2	A	T	2: 29,673,385 (GRCm39)	V106E	probably damaging	Het
Ugcg	A	G	4: 59,217,156 (GRCm39)	I227V	probably benign	Het
Vat1l	G	A	8: 114,963,539 (GRCm39)		probably null	Het
Vmn1r184	T	C	7: 25,966,824 (GRCm39)	M190T	possibly damaging	Het
Vmn2r3	T	C	3: 64,182,953 (GRCm39)	T249A	probably benign	Het
Zfp729b	A	C	13: 67,742,002 (GRCm39)	S88A	probably benign	Het
Zfp995	T	C	17: 22,099,181 (GRCm39)	Y351C	probably damaging	Het

Other mutations in Atf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Atf6	APN	1	170,616,175 (GRCm39)	critical splice donor site	probably null
IGL01431:Atf6	APN	1	170,680,571 (GRCm39)	splice site	probably benign
IGL01755:Atf6	APN	1	170,616,180 (GRCm39)	missense	possibly damaging	0.63
IGL02060:Atf6	APN	1	170,646,989 (GRCm39)	missense	probably damaging	0.99
IGL02416:Atf6	APN	1	170,574,726 (GRCm39)	nonsense	probably null
IGL02903:Atf6	APN	1	170,627,283 (GRCm39)	missense	probably benign	0.00
IGL02989:Atf6	APN	1	170,616,252 (GRCm39)	splice site	probably benign
IGL03209:Atf6	APN	1	170,662,463 (GRCm39)	missense	probably benign
R0455:Atf6	UTSW	1	170,662,492 (GRCm39)	missense	probably benign	0.00
R0467:Atf6	UTSW	1	170,621,589 (GRCm39)	missense	probably damaging	1.00
R0491:Atf6	UTSW	1	170,614,913 (GRCm39)	critical splice donor site	probably null
R0784:Atf6	UTSW	1	170,537,516 (GRCm39)	missense	probably benign	0.19
R1486:Atf6	UTSW	1	170,622,260 (GRCm39)	missense	probably damaging	1.00
R1850:Atf6	UTSW	1	170,646,855 (GRCm39)	missense	probably damaging	1.00
R1945:Atf6	UTSW	1	170,682,710 (GRCm39)	missense	probably benign	0.00
R2164:Atf6	UTSW	1	170,622,304 (GRCm39)	missense	probably damaging	1.00
R3782:Atf6	UTSW	1	170,622,336 (GRCm39)	nonsense	probably null
R4454:Atf6	UTSW	1	170,621,608 (GRCm39)	missense	probably damaging	0.99
R4631:Atf6	UTSW	1	170,574,766 (GRCm39)	splice site	probably null
R4676:Atf6	UTSW	1	170,614,979 (GRCm39)	missense	probably damaging	1.00
R5772:Atf6	UTSW	1	170,574,758 (GRCm39)	missense	probably damaging	1.00
R5860:Atf6	UTSW	1	170,669,345 (GRCm39)	missense	possibly damaging	0.95
R5860:Atf6	UTSW	1	170,669,344 (GRCm39)	missense	probably damaging	1.00
R5950:Atf6	UTSW	1	170,662,448 (GRCm39)	missense	probably damaging	1.00
R6242:Atf6	UTSW	1	170,621,545 (GRCm39)	missense	possibly damaging	0.46
R6520:Atf6	UTSW	1	170,695,238 (GRCm39)	missense	probably benign	0.00
R7032:Atf6	UTSW	1	170,627,181 (GRCm39)	critical splice donor site	probably null
R7923:Atf6	UTSW	1	170,622,275 (GRCm39)	missense	probably benign
R8002:Atf6	UTSW	1	170,646,823 (GRCm39)	missense	probably benign	0.43
R8860:Atf6	UTSW	1	170,680,535 (GRCm39)	missense	probably null	0.95
R8956:Atf6	UTSW	1	170,621,576 (GRCm39)	missense	probably damaging	0.98
R9090:Atf6	UTSW	1	170,622,245 (GRCm39)	missense	probably damaging	1.00
R9271:Atf6	UTSW	1	170,622,245 (GRCm39)	missense	probably damaging	1.00
R9323:Atf6	UTSW	1	170,682,682 (GRCm39)	nonsense	probably null
R9500:Atf6	UTSW	1	170,574,708 (GRCm39)	missense	probably damaging	0.98
R9594:Atf6	UTSW	1	170,668,402 (GRCm39)	missense	probably benign	0.18
R9733:Atf6	UTSW	1	170,662,402 (GRCm39)	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