Mutagenetix > Incidental Mutation

Incidental Mutation 'R8956:Atf6'

681984

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: 0.139) question?

Stock #

R8956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

170704674-170867771 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 170794007 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 482 (T482A)

Ref Sequence

ENSEMBL: ENSMUSP00000027974 (fasta)

Gene Model

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

AlphaFold

F6VAN0

Predicted Effect

probably damaging
Transcript: ENSMUST00000027974
AA Change: T482A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027974
Gene: ENSMUSG00000026663
AA Change: T482A

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (87/89)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	C	T	7: 79,100,965	T1828I	probably benign	Het
Acsf2	A	G	11: 94,570,385	S322P	probably benign	Het
Acss2	T	A	2: 155,549,518	I170N	probably damaging	Het
Adam22	G	A	5: 8,092,343	T814I	probably damaging	Het
Agrn	G	T	4: 156,166,538	D1914E	probably damaging	Het
Akap6	T	C	12: 53,140,344	S1514P	probably benign	Het
Akap9	T	C	5: 3,948,805	L58P	possibly damaging	Het
Apof	A	G	10: 128,269,843	I289V	probably benign	Het
Arhgap35	G	A	7: 16,614,479		probably benign	Het
Atad3a	A	C	4: 155,753,597	F239L	probably damaging	Het
Atg9b	T	C	5: 24,386,852		probably benign	Het
Atp8b4	T	A	2: 126,325,407		probably null	Het
B4galt5	T	C	2: 167,301,340	Y388C	probably damaging	Het
Bahd1	T	C	2: 118,919,208	L495P	probably damaging	Het
Bcl6	T	C	16: 23,974,966	E77G	probably damaging	Het
Bst1	C	A	5: 43,825,374	S187*	probably null	Het
Car4	A	G	11: 84,964,551	N170S	probably null	Het
Cdk14	A	T	5: 5,227,182	V131E	probably damaging	Het
Cdk4	T	A	10: 127,064,677		probably benign	Het
Cebpe	T	C	14: 54,711,664	R99G	probably damaging	Het
Col9a1	G	A	1: 24,237,219	G736D	probably damaging	Het
Copa	T	A	1: 172,109,913	V477D	possibly damaging	Het
Coq9	G	A	8: 94,850,258	G166D	probably benign	Het
Cttnbp2	A	T	6: 18,434,166	N564K	possibly damaging	Het
Dgkq	T	C	5: 108,650,229	N721S	probably benign	Het
Dnhd1	A	T	7: 105,692,645	Y1217F	probably damaging	Het
Eef1akmt4	G	T	16: 20,618,648	E247*	probably null	Het
Elmsan1	T	A	12: 84,162,328	I667L	probably benign	Het
Elovl7	A	T	13: 108,256,786	I18F	probably benign	Het
Eml5	T	C	12: 98,852,693	K785E	possibly damaging	Het
Faap100	C	A	11: 120,377,359	C196F	probably damaging	Het
Fat2	G	A	11: 55,282,903	T2328M	probably damaging	Het
Gcnt2	T	A	13: 40,887,728	I121N	probably benign	Het
Gm12253	A	G	11: 58,436,779	K152E	probably benign	Het
Gm16440	T	A	14: 6,387,488	R167*	probably null	Het
Gm43302	T	A	5: 105,277,736	I276F	possibly damaging	Het
Gys2	A	G	6: 142,428,541	S593P	probably damaging	Het
H2-M10.4	T	A	17: 36,461,353	N168Y	probably benign	Het
Hpca	C	A	4: 129,118,494	R83L	probably damaging	Het
Igkv8-28	A	G	6: 70,144,125	F13L	probably benign	Het
Il17ra	A	T	6: 120,481,504	I539F	probably damaging	Het
Kdm4a	A	G	4: 118,161,816	V401A	possibly damaging	Het
Krt86	A	T	15: 101,477,276	T351S	probably benign	Het
Lig4	A	G	8: 9,971,378	C801R	probably benign	Het
Lrrn4	G	A	2: 132,872,091	P312S	probably damaging	Het
Macf1	T	A	4: 123,474,848	H2040L	probably benign	Het
Madcam1	A	G	10: 79,666,632	K317E	possibly damaging	Het
Maip1	T	C	1: 57,411,802	I201T	probably damaging	Het
Map4k4	C	A	1: 40,000,680	D513E	probably benign	Het
Mpped1	G	A	15: 83,856,268	G137R	probably damaging	Het
Mrgprd	T	G	7: 145,322,186	F265V	probably benign	Het
Myct1	C	T	10: 5,604,208	T25I	probably damaging	Het
Mylk	A	G	16: 34,971,409	T1484A	probably benign	Het
Nbas	C	T	12: 13,432,922	S1400L	possibly damaging	Het
Nedd4	T	A	9: 72,726,426	S405T	probably benign	Het
Neil2	A	G	14: 63,191,778	V22A	probably damaging	Het
Nrip1	G	C	16: 76,292,305	A788G	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,057		probably benign	Het
Olfr1344	G	A	7: 6,439,021		probably benign	Het
Olfr1535	T	C	13: 21,555,999	I8V	probably benign	Het
Olfr456	T	A	6: 42,486,896	Q99L	probably damaging	Het
Olfr479	A	G	7: 108,055,953	T324A	probably benign	Het
Olfr811	C	T	10: 129,802,353	M57I	possibly damaging	Het
Olfr961	C	T	9: 39,647,200	T158I	probably damaging	Het
Orc2	T	C	1: 58,466,062	N478S	probably damaging	Het
Oxct1	A	G	15: 4,035,324	E48G	possibly damaging	Het
Pcca	A	G	14: 122,737,912	I28V	probably benign	Het
Pcdha8	T	C	18: 36,993,188	V241A	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pkd2	T	A	5: 104,483,224	W505R	probably damaging	Het
Plxnc1	C	T	10: 94,910,586	V430I	probably benign	Het
Prkd3	A	G	17: 78,971,454	M401T	probably damaging	Het
Rgmb	A	G	17: 15,807,486	C324R	probably benign	Het
Rsph6a	A	T	7: 19,065,439		probably benign	Het
Sclt1	A	T	3: 41,681,774	M264K	probably benign	Het
Serhl	T	A	15: 83,101,698	V30D	possibly damaging	Het
Sfrp1	T	C	8: 23,412,143	V120A	probably damaging	Het
Slc22a8	C	T	19: 8,609,666	Q408*	probably null	Het
Slc35b2	A	G	17: 45,566,747	T218A	probably damaging	Het
Slco4c1	A	T	1: 96,837,517	F403I	probably damaging	Het
Sorbs1	T	A	19: 40,363,216	H250L	probably damaging	Het
Sorcs3	T	A	19: 48,749,371	C742*	probably null	Het
Tmem8	T	A	17: 26,120,400	S563T	possibly damaging	Het
Tnc	T	C	4: 64,000,733	Y1151C	probably damaging	Het
Tor1aip1	T	A	1: 156,033,836		probably benign	Het
Trim9	T	C	12: 70,346,891	Q93R	probably damaging	Het
Tsnaxip1	A	G	8: 105,844,181	Y613C	probably damaging	Het
Ttc6	C	T	12: 57,728,410	Q1631*	probably null	Het
Ubr5	A	G	15: 38,015,123	L881P	probably damaging	Het
Upp2	C	T	2: 58,567,442		probably benign	Het
Vmn1r203	T	A	13: 22,524,834	S262T	possibly damaging	Het
Vmn2r116	A	T	17: 23,386,762	D216V	probably damaging	Het
Vps52	A	G	17: 33,958,075	Q96R	probably benign	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
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'- TCAGAAGCAGCCACAGTGAG -3'
(R):5'- GGAGGTTACCTTATAACAATCCATGTC -3'

Sequencing Primer
(F):5'- GAAGTAAATGAGGCTGAAGTTCCC -3'
(R):5'- CTGTTCTTTGGGTCCTATAG -3'

Posted On

2021-08-31