Mutagenetix > Incidental Mutation

Incidental Mutation 'R9271:Atf6'

702894

Institutional Source

Beutler Lab

Gene Symbol

Atf6

Ensembl Gene

ENSMUSG00000026663

Gene Name

activating transcription factor 6

Synonyms

Atf6alpha, 9130025P16Rik, ESTM49

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R9271 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

170532243-170695340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 170622245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 459 (N459D)

Ref Sequence

ENSEMBL: ENSMUSP00000027974 (fasta)

Gene Model

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

AlphaFold

F6VAN0

Predicted Effect

probably damaging
Transcript: ENSMUST00000027974
AA Change: N459D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027974
Gene: ENSMUSG00000026663
AA Change: N459D

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

Meta Mutation Damage Score

0.5624

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (107/107)

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,901,940 (GRCm39)	S819T	probably damaging	Het
Abca13	A	T	11: 9,241,698 (GRCm39)	D1187V	probably damaging	Het
Ak9	C	A	10: 41,300,623 (GRCm39)	T1611K	unknown	Het
Als2	G	T	1: 59,242,189 (GRCm39)	T622K	probably benign	Het
Ankrd40	G	A	11: 94,225,262 (GRCm39)	A98T	probably benign	Het
Ap1b1	T	C	11: 4,973,174 (GRCm39)	L339P	probably damaging	Het
Appl1	A	C	14: 26,669,084 (GRCm39)	H363Q	probably benign	Het
Ccdc6	A	T	10: 70,024,993 (GRCm39)	Q432L	unknown	Het
Ccl21a	T	A	4: 42,773,486 (GRCm39)	Q84L	probably damaging	Het
Cct4	A	G	11: 22,951,389 (GRCm39)	I348V	probably benign	Het
Cd300ld2	A	G	11: 114,904,550 (GRCm39)	Y106H	probably damaging	Het
Cdh19	C	T	1: 110,876,947 (GRCm39)	E131K	probably damaging	Het
Cdon	A	G	9: 35,403,175 (GRCm39)	D1095G	probably damaging	Het
Cep85l	T	A	10: 53,157,670 (GRCm39)	R678*	probably null	Het
Chst3	T	A	10: 60,021,465 (GRCm39)	S461C	probably damaging	Het
Clk1	A	G	1: 58,459,312 (GRCm39)	I149T	possibly damaging	Het
Clvs2	T	A	10: 33,389,301 (GRCm39)	D313V	possibly damaging	Het
Dap3	T	C	3: 88,840,913 (GRCm39)	T75A	probably benign	Het
Dnaaf1	T	A	8: 120,324,392 (GRCm39)	F631L	probably benign	Het
Dnah14	A	T	1: 181,597,325 (GRCm39)	N3549I	probably benign	Het
Dnah17	A	T	11: 117,931,870 (GRCm39)	Y3701N	probably damaging	Het
Dock6	A	G	9: 21,752,796 (GRCm39)	V339A	possibly damaging	Het
Dpp6	T	A	5: 27,803,832 (GRCm39)	C259*	probably null	Het
Dqx1	A	G	6: 83,036,024 (GRCm39)	T119A	probably benign	Het
Dync1h1	G	T	12: 110,583,310 (GRCm39)	R469L	probably benign	Het
Eno4	C	T	19: 58,951,260 (GRCm39)	A424V	probably benign	Het
Entrep1	A	T	19: 23,972,221 (GRCm39)	I161N	possibly damaging	Het
Fads1	T	A	19: 10,163,162 (GRCm39)	D146E	probably damaging	Het
Fam171a1	C	T	2: 3,224,543 (GRCm39)	T303M	probably damaging	Het
Fbxw20	C	T	9: 109,050,423 (GRCm39)	D401N	probably benign	Het
Fcho1	T	A	8: 72,163,068 (GRCm39)	T654S	possibly damaging	Het
Flad1	C	A	3: 89,315,858 (GRCm39)	E235*	probably null	Het
Flrt2	G	T	12: 95,745,907 (GRCm39)	A82S	probably benign	Het
Gabrg3	A	T	7: 56,829,386 (GRCm39)	S124T	probably benign	Het
Galt	C	T	4: 41,756,777 (GRCm39)	T139I	probably benign	Het
Garin4	A	G	1: 190,895,153 (GRCm39)	S497P	probably damaging	Het
Gfod1	T	C	13: 43,456,861 (GRCm39)	E38G	possibly damaging	Het
Gm10330	A	G	12: 23,829,992 (GRCm39)	I63T	possibly damaging	Het
Gm3033	A	T	14: 3,846,968 (GRCm38)	N28I		Het
Gm49359	A	G	13: 62,602,867 (GRCm39)	V111A	probably benign	Het
Gpank1	C	T	17: 35,340,734 (GRCm39)		probably benign	Het
Hck	T	C	2: 152,973,185 (GRCm39)	L156P	probably damaging	Het
Hcn3	G	T	3: 89,057,267 (GRCm39)	R444S	probably damaging	Het
Hephl1	T	C	9: 14,988,236 (GRCm39)	N624S	probably damaging	Het
Hmcn1	A	G	1: 150,632,309 (GRCm39)	I876T	probably damaging	Het
Itga9	T	A	9: 118,500,859 (GRCm39)	D377E	possibly damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Itprid1	G	T	6: 55,944,051 (GRCm39)	R417L	probably benign	Het
Kcnk1	T	A	8: 126,752,152 (GRCm39)		probably null	Het
Klk1b11	C	T	7: 43,425,954 (GRCm39)	L32F	probably benign	Het
Lta4h	A	G	10: 93,310,412 (GRCm39)	S427G	probably benign	Het
Lxn	T	A	3: 67,368,651 (GRCm39)	I122F	probably damaging	Het
Lyz1	A	G	10: 117,124,492 (GRCm39)	V148A	possibly damaging	Het
Mael	G	T	1: 166,032,424 (GRCm39)	Q326K	probably benign	Het
Magi3	T	C	3: 103,923,264 (GRCm39)	D1151G	possibly damaging	Het
Map3k9	C	A	12: 81,769,261 (GRCm39)	G929V	probably benign	Het
Mcoln1	A	G	8: 3,555,771 (GRCm39)	Y22C	probably damaging	Het
Mier3	G	T	13: 111,827,870 (GRCm39)	M45I	probably benign	Het
Mrpl1	T	C	5: 96,371,746 (GRCm39)	V91A	probably damaging	Het
Msra	T	C	14: 64,471,269 (GRCm39)		probably null	Het
Myo7a	T	C	7: 97,740,281 (GRCm39)	H571R	probably benign	Het
Myom1	T	A	17: 71,374,325 (GRCm39)	W601R	probably damaging	Het
Myom3	C	T	4: 135,505,479 (GRCm39)	T456I	probably benign	Het
Nags	A	T	11: 102,037,584 (GRCm39)	H225L	probably benign	Het
Ncaph	C	A	2: 126,958,554 (GRCm39)	K488N	probably damaging	Het
Nkain3	C	T	4: 20,484,897 (GRCm39)	R60H	probably damaging	Het
Nlrp9a	A	T	7: 26,261,944 (GRCm39)	M698L	probably benign	Het
Nmur2	A	C	11: 55,931,308 (GRCm39)	I134M	probably benign	Het
Nrp2	A	C	1: 62,784,670 (GRCm39)	E273A	probably benign	Het
Nup85	A	G	11: 115,468,787 (GRCm39)	D210G	possibly damaging	Het
Obscn	A	G	11: 59,006,643 (GRCm39)	F1173S	probably damaging	Het
Or5ac24	A	T	16: 59,165,145 (GRCm39)	C306*	probably null	Het
Otogl	T	A	10: 107,652,974 (GRCm39)	E1126V	probably null	Het
Pfkl	T	C	10: 77,833,426 (GRCm39)	I259V	probably benign	Het
Phkg1	A	T	5: 129,893,863 (GRCm39)	Y291N	probably benign	Het
Piezo2	T	G	18: 63,163,450 (GRCm39)	H2156P	probably damaging	Het
Piezo2	C	A	18: 63,208,790 (GRCm39)	V1408L	probably damaging	Het
Pira13	T	A	7: 3,819,997 (GRCm39)	E640V	unknown	Het
Pkd2	A	G	5: 104,626,959 (GRCm39)		probably null	Het
Plekhg3	A	G	12: 76,622,694 (GRCm39)	T646A	probably benign	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ppp1r12a	T	C	10: 108,098,224 (GRCm39)	S838P	probably damaging	Het
Rarb	A	T	14: 16,435,235 (GRCm38)	Y270*	probably null	Het
Rbm15	T	C	3: 107,239,312 (GRCm39)	E362G	possibly damaging	Het
Rcan1	A	G	16: 92,262,741 (GRCm39)	F76L		Het
Rdh19	T	C	10: 127,696,142 (GRCm39)	L298P	probably damaging	Het
Rims1	T	A	1: 22,498,773 (GRCm39)	H57L		Het
Rlf	T	C	4: 121,004,751 (GRCm39)	T1520A	probably benign	Het
Rnase1	T	A	14: 51,382,964 (GRCm39)	H130L	possibly damaging	Het
Samd8	T	A	14: 21,842,569 (GRCm39)	M360K	probably damaging	Het
Samhd1	A	G	2: 156,956,205 (GRCm39)	L329P	probably damaging	Het
Scube1	C	T	15: 83,494,394 (GRCm39)	E878K	probably damaging	Het
Sema3b	T	C	9: 107,476,154 (GRCm39)	Y689C	probably damaging	Het
Semp2l2a	T	C	8: 13,886,697 (GRCm39)	T465A	possibly damaging	Het
Sgo1	T	C	17: 53,983,931 (GRCm39)		probably benign	Het
Sh3pxd2b	A	T	11: 32,373,361 (GRCm39)	N843Y	possibly damaging	Het
Slco1a6	C	T	6: 142,035,575 (GRCm39)	C583Y	probably damaging	Het
Smg1	A	C	7: 117,811,786 (GRCm39)	V88G	unknown	Het
Spata24	T	A	18: 35,790,054 (GRCm39)	N146Y	probably damaging	Het
Tcf3	C	A	10: 80,253,191 (GRCm39)	V258L	probably benign	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tiam2	T	C	17: 3,465,011 (GRCm39)	Y247H	probably damaging	Het
Ticrr	T	C	7: 79,310,604 (GRCm39)	F173L	possibly damaging	Het
Tpp2	A	G	1: 43,993,811 (GRCm39)	E232G	probably damaging	Het
Trank1	T	A	9: 111,174,547 (GRCm39)	V138E	probably damaging	Het
Ttll3	T	C	6: 113,369,596 (GRCm39)	S47P	probably benign	Het
Utp4	C	T	8: 107,632,857 (GRCm39)	T280M	probably damaging	Het
Vmn1r123	A	T	7: 20,896,794 (GRCm39)	N229Y	probably benign	Het
Vmn1r85	A	T	7: 12,818,942 (GRCm39)	Y67*	probably null	Het
Zbtb12	T	A	17: 35,114,320 (GRCm39)	V35E	possibly damaging	Het
Zmym6	T	A	4: 127,017,854 (GRCm39)	F1212I	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
R7472:Atf6	UTSW	1	170,643,060 (GRCm39)	missense	possibly damaging	0.83
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
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'- ACCTGGACAATTGTTATCCTGG -3'
(R):5'- CTGAGAGAATGACAGTCCACC -3'

Sequencing Primer
(F):5'- GGCTTGCAGTTATCCAATGCAAG -3'
(R):5'- CTGAGAGAATGACAGTCCACCATATG -3'

Posted On

2022-03-25