Mutagenetix > Incidental Mutation

Incidental Mutation 'R1945:Atf6'

216541

Institutional Source

Beutler Lab

Gene Symbol

Atf6

Ensembl Gene

ENSMUSG00000026663

Gene Name

activating transcription factor 6

Synonyms

9130025P16Rik, ESTM49, Atf6alpha

MMRRC Submission

039963-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R1945 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

170704674-170867771 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 170855141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 34 (V34E)

Ref Sequence

ENSEMBL: ENSMUSP00000027974 (fasta)

Gene Model

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

AlphaFold

F6VAN0

Predicted Effect

probably benign
Transcript: ENSMUST00000027974
AA Change: V34E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000027974
Gene: ENSMUSG00000026663
AA Change: V34E

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	A	14: 49,768,483	E585V	probably damaging	Het
4930562C15Rik	A	G	16: 4,835,685	I33V	unknown	Het
4931408C20Rik	C	A	1: 26,682,314	V1262F	probably benign	Het
Abca1	ACGTCTTCACCAGGTAATC	AC	4: 53,061,509		probably null	Het
Amotl2	T	C	9: 102,720,554	S171P	probably benign	Het
Atrip	T	A	9: 109,071,867	I135F	probably damaging	Het
Bglap	A	G	3: 88,383,664	Y87H	probably damaging	Het
Camk2n1	G	A	4: 138,456,783	V78I	possibly damaging	Het
Ccdc92b	A	G	11: 74,630,009	I46V	probably benign	Het
Cdc14b	T	C	13: 64,219,890	Y208C	probably damaging	Het
Cdc42bpb	C	T	12: 111,299,133	R1455Q	probably damaging	Het
Cep170	C	A	1: 176,793,534	G26*	probably null	Het
Cfap46	A	G	7: 139,679,903	F217S	probably damaging	Het
Col11a2	A	T	17: 34,059,168	D691V	probably damaging	Het
Col7a1	G	A	9: 108,960,010	V798I	unknown	Het
Coq8b	CGCA	CGCAGCA	7: 27,233,980		probably benign	Het
Coq8b	GCA	GCAACA	7: 27,233,981		probably benign	Het
Dcaf5	T	C	12: 80,338,694	D886G	probably benign	Het
Ern1	A	G	11: 106,421,950	S202P	probably damaging	Het
Etaa1	A	G	11: 17,947,233	C295R	probably damaging	Het
Fam129a	T	C	1: 151,696,228	I308T	probably damaging	Het
Ghdc	C	T	11: 100,769,205	A239T	probably benign	Het
Gm906	C	T	13: 50,245,491	G933E	probably damaging	Het
Grik4	T	C	9: 42,521,004	D899G	possibly damaging	Het
Hacd2	C	A	16: 35,101,984	T181K	possibly damaging	Het
Havcr2	T	C	11: 46,455,050	L17P	unknown	Het
Herc3	T	C	6: 58,887,439	V686A	probably damaging	Het
Hyal3	T	C	9: 107,585,472	L235P	probably damaging	Het
Itgb4	C	T	11: 115,993,453	Q988*	probably null	Het
Krt32	T	A	11: 100,084,844		probably null	Het
Krt33a	T	C	11: 100,012,709	N199S	probably benign	Het
Lama1	T	A	17: 67,745,853	S394T	probably benign	Het
Lamp1	T	C	8: 13,172,545	V243A	probably benign	Het
Loxhd1	A	G	18: 77,404,808	Y1315C	probably damaging	Het
Macf1	A	T	4: 123,490,660	L1148*	probably null	Het
Mill2	A	G	7: 18,841,494	H42R	probably benign	Het
Myo15	T	C	11: 60,502,083	F2194L	probably damaging	Het
Myo15b	A	T	11: 115,878,398	I1472F	probably damaging	Het
Nasp	T	C	4: 116,622,768	S36G	possibly damaging	Het
Nav2	A	G	7: 49,464,872	Y868C	probably damaging	Het
Nono	T	C	X: 101,441,823		probably null	Het
Npc1l1	T	A	11: 6,214,588	I1154F	possibly damaging	Het
Npc1l1	C	T	11: 6,225,199	W592*	probably null	Het
Nsg2	T	C	11: 32,055,068	V90A	probably damaging	Het
Odf4	T	C	11: 68,922,157	N225S	possibly damaging	Het
Olfr1230	T	C	2: 89,296,784	Y162C	probably damaging	Het
Olfr340	T	C	2: 36,453,031	W149R	probably damaging	Het
Oosp2	C	T	19: 11,649,595		probably null	Het
Pcdhb4	A	T	18: 37,308,868	R410S	probably damaging	Het
Pde6c	T	A	19: 38,157,519	D418E	probably damaging	Het
Pik3ap1	A	T	19: 41,274,337	S799T	probably benign	Het
Pitx2	A	G	3: 129,218,536	N198S	probably damaging	Het
Psmb3	T	C	11: 97,711,155	F117S	probably benign	Het
Ptprq	A	T	10: 107,582,388	M1709K	probably benign	Het
Recql5	G	A	11: 115,928,297	R148*	probably null	Het
Reep3	A	G	10: 67,035,899	S97P	probably damaging	Het
Rnase12	T	A	14: 51,057,006	Q72L	possibly damaging	Het
Scd3	T	C	19: 44,235,780	Y151H	probably benign	Het
Scn10a	A	T	9: 119,691,454	S127T	possibly damaging	Het
Scn7a	A	T	2: 66,675,980	W1522R	probably damaging	Het
Senp7	A	G	16: 56,123,946	H211R	probably damaging	Het
Sept10	C	T	10: 59,181,019		probably null	Het
Serpinb6d	T	C	13: 33,667,680	V140A	possibly damaging	Het
Sned1	A	G	1: 93,271,238	E457G	probably benign	Het
Spag17	A	C	3: 99,939,982	M76L	probably benign	Het
Ssfa2	T	C	2: 79,662,652	V1181A	probably benign	Het
Sspo	A	T	6: 48,489,773	E105V	possibly damaging	Het
Stoml3	T	A	3: 53,505,445	D173E	possibly damaging	Het
Sun3	T	C	11: 9,038,296	I9V	probably benign	Het
Svil	T	C	18: 5,117,059	W2165R	probably damaging	Het
Tbl2	T	A	5: 135,157,600	S184T	possibly damaging	Het
Tdrd7	A	T	4: 45,965,474	T31S	probably benign	Het
Tmeff1	A	G	4: 48,614,960	N139S	possibly damaging	Het
Trip13	T	C	13: 73,927,924	R199G	probably damaging	Het
Tshb	G	T	3: 102,777,515	Y124*	probably null	Het
Ttn	T	C	2: 76,730,022	E29345G	probably damaging	Het
Usp33	T	A	3: 152,379,586	S620T	probably benign	Het
Vipr1	G	A	9: 121,668,474	G353R	probably damaging	Het
Vipr1	G	T	9: 121,668,475	G353V	probably damaging	Het
Vps13c	A	T	9: 67,886,276	D437V	probably damaging	Het
Ylpm1	T	A	12: 85,015,418	S240T	probably damaging	Het
Zfp772	A	G	7: 7,203,630	I354T	probably benign	Het
Zfp959	T	A	17: 55,897,231	Y86*	probably null	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
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
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'- GAATCTGGATCTCTCTTATGGCAAAC -3'
(R):5'- CACATTGCTTGAGCTTGTCAG -3'

Sequencing Primer
(F):5'- CTGTACTTATTGACTACAAGAGGTGC -3'
(R):5'- TTGTCAGCAGCAGCAGTG -3'

Posted On

2014-08-01