Mutagenetix > Incidental Mutation

Incidental Mutation 'R9090:Atf6'

690864

Institutional Source

Beutler Lab

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 #

R9090 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

170704674-170867771 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 170794676 bp (GRCm38)

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: 99.9%
10x: 99.7%
20x: 99.2%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 120,011,114	S819T	probably damaging	Het
Abca13	A	T	11: 9,291,698	D1187V	probably damaging	Het
AF366264	T	C	8: 13,836,697	T465A	possibly damaging	Het
Ak9	C	A	10: 41,424,627	T1611K	unknown	Het
Als2	G	T	1: 59,203,030	T622K	probably benign	Het
Ankrd40	G	A	11: 94,334,436	A98T	probably benign	Het
Ap1b1	T	C	11: 5,023,174	L339P	probably damaging	Het
Appl1	A	C	14: 26,947,127	H363Q	probably benign	Het
Ccdc129	G	T	6: 55,967,066	R417L	probably benign	Het
Ccdc6	A	T	10: 70,189,163	Q432L	unknown	Het
Ccl21a	T	A	4: 42,773,486	Q84L	probably damaging	Het
Cct4	A	G	11: 23,001,389	I348V	probably benign	Het
Cd300ld2	A	G	11: 115,013,724	Y106H	probably damaging	Het
Cdh19	C	T	1: 110,949,217	E131K	probably damaging	Het
Cdon	A	G	9: 35,491,879	D1095G	probably damaging	Het
Cep85l	T	A	10: 53,281,574	R678*	probably null	Het
Chst3	T	A	10: 60,185,643	S461C	probably damaging	Het
Clk1	A	G	1: 58,420,153	I149T	possibly damaging	Het
Clvs2	T	A	10: 33,513,305	D313V	possibly damaging	Het
Dap3	T	C	3: 88,933,606	T75A	probably benign	Het
Dnaaf1	T	A	8: 119,597,653	F631L	probably benign	Het
Dnah14	A	T	1: 181,769,760	N3549I	probably benign	Het
Dnah17	A	T	11: 118,041,044	Y3701N	probably damaging	Het
Dock6	A	G	9: 21,841,500	V339A	possibly damaging	Het
Dpp6	T	A	5: 27,598,834	C259*	probably null	Het
Dqx1	A	G	6: 83,059,043	T119A	probably benign	Het
Dync1h1	G	T	12: 110,616,876	R469L	probably benign	Het
Eno4	C	T	19: 58,962,828	A424V	probably benign	Het
Fads1	T	A	19: 10,185,798	D146E	probably damaging	Het
Fam171a1	C	T	2: 3,223,506	T303M	probably damaging	Het
Fam189a2	A	T	19: 23,994,857	I161N	possibly damaging	Het
Fam71a	A	G	1: 191,162,956	S497P	probably damaging	Het
Fbxw20	C	T	9: 109,221,355	D401N	probably benign	Het
Fcho1	T	A	8: 71,710,424	T654S	possibly damaging	Het
Flad1	C	A	3: 89,408,551	E235*	probably null	Het
Flrt2	G	T	12: 95,779,133	A82S	probably benign	Het
Gabrg3	A	T	7: 57,179,638	S124T	probably benign	Het
Galt	C	T	4: 41,756,777	T139I	probably benign	Het
Gfod1	T	C	13: 43,303,385	E38G	possibly damaging	Het
Gm10330	A	G	12: 23,779,991	I63T	possibly damaging	Het
Gm15448	T	A	7: 3,816,998	E640V	unknown	Het
Gm49359	A	G	13: 62,455,053	V111A	probably benign	Het
Gpank1	C	T	17: 35,121,758		probably benign	Het
Hck	T	C	2: 153,131,265	L156P	probably damaging	Het
Hcn3	G	T	3: 89,149,960	R444S	probably damaging	Het
Hephl1	T	C	9: 15,076,940	N624S	probably damaging	Het
Hmcn1	A	G	1: 150,756,558	I876T	probably damaging	Het
Ifi207	CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	1: 173,729,196		probably benign	Het
Itga9	T	A	9: 118,671,791	D377E	possibly damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Klk11	C	T	7: 43,776,530	L32F	probably benign	Het
Lta4h	A	G	10: 93,474,550	S427G	probably benign	Het
Lxn	T	A	3: 67,461,318	I122F	probably damaging	Het
Lyz1	A	G	10: 117,288,587	V148A	possibly damaging	Het
Mael	G	T	1: 166,204,855	Q326K	probably benign	Het
Magi3	T	C	3: 104,015,948	D1151G	possibly damaging	Het
Map3k9	C	A	12: 81,722,487	G929V	probably benign	Het
Mcoln1	A	G	8: 3,505,771	Y22C	probably damaging	Het
Mier3	G	T	13: 111,691,336	M45I	probably benign	Het
Mrpl1	T	C	5: 96,223,887	V91A	probably damaging	Het
Myo7a	T	C	7: 98,091,074	H571R	probably benign	Het
Myom1	T	A	17: 71,067,330	W601R	probably damaging	Het
Myom3	C	T	4: 135,778,168	T456I	probably benign	Het
Nags	A	T	11: 102,146,758	H225L	probably benign	Het
Ncaph	C	A	2: 127,116,634	K488N	probably damaging	Het
Nkain3	C	T	4: 20,484,897	R60H	probably damaging	Het
Nlrp9a	A	T	7: 26,562,519	M698L	probably benign	Het
Nmur2	A	C	11: 56,040,482	I134M	probably benign	Het
Nrp2	A	C	1: 62,745,511	E273A	probably benign	Het
Nup85	A	G	11: 115,577,961	D210G	possibly damaging	Het
Obscn	A	G	11: 59,115,817	F1173S	probably damaging	Het
Olfr206	A	T	16: 59,344,782	C306*	probably null	Het
Otogl	T	A	10: 107,817,113	E1126V	probably null	Het
Pfkl	T	C	10: 77,997,592	I259V	probably benign	Het
Phkg1	A	T	5: 129,865,022	Y291N	probably benign	Het
Piezo2	T	G	18: 63,030,379	H2156P	probably damaging	Het
Piezo2	C	A	18: 63,075,719	V1408L	probably damaging	Het
Plekhg3	A	G	12: 76,575,920	T646A	probably benign	Het
Plk5	C	G	10: 80,357,996	R40G	probably damaging	Het
Ppp1r12a	T	C	10: 108,262,363	S838P	probably damaging	Het
Rarb	A	T	14: 16,435,235	Y270*	probably null	Het
Rbm15	T	C	3: 107,331,996	E362G	possibly damaging	Het
Rcan1	A	G	16: 92,465,853	F76L		Het
Rdh19	T	C	10: 127,860,273	L298P	probably damaging	Het
Rims1	T	A	1: 22,428,522	H57L		Het
Rlf	T	C	4: 121,147,554	T1520A	probably benign	Het
Rnase1	T	A	14: 51,145,507	H130L	possibly damaging	Het
Samd8	T	A	14: 21,792,501	M360K	probably damaging	Het
Samhd1	A	G	2: 157,114,285	L329P	probably damaging	Het
Scube1	C	T	15: 83,610,193	E878K	probably damaging	Het
Sema3b	T	C	9: 107,598,955	Y689C	probably damaging	Het
Sh3pxd2b	A	T	11: 32,423,361	N843Y	possibly damaging	Het
Slco1a6	C	T	6: 142,089,849	C583Y	probably damaging	Het
Smg1	A	C	7: 118,212,563	V88G	unknown	Het
Spata24	T	A	18: 35,657,001	N146Y	probably damaging	Het
Tcf3	C	A	10: 80,417,357	V258L	probably benign	Het
Tiam2	T	C	17: 3,414,736	Y247H	probably damaging	Het
Ticrr	T	C	7: 79,660,856	F173L	possibly damaging	Het
Tpp2	A	G	1: 43,954,651	E232G	probably damaging	Het
Trank1	T	A	9: 111,345,479	V138E	probably damaging	Het
Ttll3	T	C	6: 113,392,635	S47P	probably benign	Het
Utp4	C	T	8: 106,906,225	T280M	probably damaging	Het
Vmn1r123	A	T	7: 21,162,869	N229Y	probably benign	Het
Vmn1r85	A	T	7: 13,085,015	Y67*	probably null	Het
Zbtb12	T	A	17: 34,895,344	V35E	possibly damaging	Het
Zmym6	T	A	4: 127,124,061	F1212I	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
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
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'- TACCTGGACAATTGTTATCCTGG -3'
(R):5'- ACTGAGAGAATGACAGTCCACC -3'

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

Posted On

2021-12-30