Mutagenetix > Incidental Mutation

Incidental Mutation 'R2164:Atf6'

235323

Institutional Source

Beutler Lab

Gene Symbol

Atf6

Ensembl Gene

ENSMUSG00000026663

Gene Name

activating transcription factor 6

Synonyms

Atf6alpha, 9130025P16Rik, ESTM49

MMRRC Submission

040167-MU

Accession Numbers

Essential gene?

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

Stock #

R2164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

170532243-170695340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 170622304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 439 (M439T)

Ref Sequence

ENSEMBL: ENSMUSP00000027974 (fasta)

Gene Model

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

AlphaFold

F6VAN0

Predicted Effect

probably damaging
Transcript: ENSMUST00000027974
AA Change: M439T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027974
Gene: ENSMUSG00000026663
AA Change: M439T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182787

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	CTGTAGGAAATCTTCAATGT	CTGT	11: 110,101,019 (GRCm39)		probably null	Het
Adcy8	C	T	15: 64,792,783 (GRCm39)	G58S	probably benign	Het
Adgra2	T	A	8: 27,604,232 (GRCm39)	L24*	probably null	Het
Ampd2	C	A	3: 107,992,685 (GRCm39)		probably benign	Het
Ankrd26	T	G	6: 118,502,752 (GRCm39)	E806A	probably damaging	Het
Apol9b	A	G	15: 77,619,639 (GRCm39)	D145G	probably benign	Het
Ash1l	T	A	3: 88,892,726 (GRCm39)	M1535K	probably benign	Het
B3glct	A	T	5: 149,677,621 (GRCm39)	M417L	probably damaging	Het
Cep192	A	T	18: 67,953,431 (GRCm39)	T483S	probably damaging	Het
Cep290	G	A	10: 100,354,657 (GRCm39)	E914K	probably damaging	Het
Chst15	C	T	7: 131,872,114 (GRCm39)	A56T	probably damaging	Het
Col27a1	A	T	4: 63,143,661 (GRCm39)	T450S	probably benign	Het
Cpsf2	A	G	12: 101,951,594 (GRCm39)	N177S	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Ctc1	C	T	11: 68,926,441 (GRCm39)	A859V	possibly damaging	Het
Dcakd	A	G	11: 102,888,183 (GRCm39)	Y134H	possibly damaging	Het
Dctn3	G	T	4: 41,723,065 (GRCm39)	Y22*	probably null	Het
Dync2h1	T	A	9: 7,124,797 (GRCm39)	D2025V	probably damaging	Het
Dync2li1	T	C	17: 84,943,702 (GRCm39)	S92P	probably damaging	Het
Eml5	A	G	12: 98,853,356 (GRCm39)	V81A	probably damaging	Het
Espl1	C	T	15: 102,228,023 (GRCm39)	R1625C	probably damaging	Het
Fam181a	T	C	12: 103,282,785 (GRCm39)	V230A	probably benign	Het
Fanci	T	A	7: 79,045,743 (GRCm39)	D28E	probably benign	Het
Fmn1	A	G	2: 113,195,962 (GRCm39)	N554S	unknown	Het
Frem2	T	C	3: 53,444,751 (GRCm39)	Y2460C	probably damaging	Het
Fscb	G	A	12: 64,520,567 (GRCm39)	P300S	probably damaging	Het
Gm28042	A	G	2: 119,867,229 (GRCm39)	D438G	probably benign	Het
Ldaf1	A	G	7: 119,719,462 (GRCm39)	E157G	possibly damaging	Het
Map1b	C	T	13: 99,565,846 (GRCm39)	V2292M	unknown	Het
Nbas	A	G	12: 13,380,647 (GRCm39)	D635G	possibly damaging	Het
Ncapg2	A	G	12: 116,414,095 (GRCm39)		probably null	Het
Nrp2	A	T	1: 62,783,514 (GRCm39)	E205V	probably damaging	Het
Pcdhb3	A	T	18: 37,435,239 (GRCm39)	T402S	possibly damaging	Het
Phc1	T	C	6: 122,299,296 (GRCm39)	N638D	possibly damaging	Het
Plcb1	A	G	2: 135,188,250 (GRCm39)	N781S	possibly damaging	Het
Prkdc	T	A	16: 15,523,071 (GRCm39)	D1164E	probably damaging	Het
Proser2	T	A	2: 6,105,506 (GRCm39)	R353W	possibly damaging	Het
Prxl2b	T	G	4: 154,982,606 (GRCm39)	Y56S	probably damaging	Het
Ptges	T	A	2: 30,782,708 (GRCm39)	T115S	probably benign	Het
Ptprk	A	T	10: 28,436,138 (GRCm39)	D833V	probably damaging	Het
Pum1	T	A	4: 130,455,394 (GRCm39)	L173*	probably null	Het
Pum1	G	T	4: 130,455,395 (GRCm39)	L269F	probably damaging	Het
Rasgrp4	A	G	7: 28,838,470 (GRCm39)	Y106C	probably damaging	Het
Rbbp6	T	A	7: 122,598,697 (GRCm39)		probably benign	Het
Rdh1	A	G	10: 127,596,041 (GRCm39)	T79A	possibly damaging	Het
Relb	A	C	7: 19,347,686 (GRCm39)		probably null	Het
Rnf122	G	A	8: 31,602,192 (GRCm39)	W6*	probably null	Het
Rnf31	A	G	14: 55,829,994 (GRCm39)	E138G	possibly damaging	Het
Scaf8	G	A	17: 3,247,485 (GRCm39)	R936Q	probably damaging	Het
Scube3	T	A	17: 28,385,108 (GRCm39)	V686D	possibly damaging	Het
Snrnp27	A	T	6: 86,653,196 (GRCm39)	C141S	probably benign	Het
Spns2	C	T	11: 72,349,497 (GRCm39)	V252M	possibly damaging	Het
Tomm40l	C	T	1: 171,047,703 (GRCm39)	S220N	probably damaging	Het
Trim17	A	G	11: 58,862,237 (GRCm39)	D423G	probably damaging	Het
Trpc6	A	AT	9: 8,610,466 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,360,226 (GRCm39)	R481Q	possibly damaging	Het
Uba5	A	T	9: 103,937,442 (GRCm39)	M89K	probably damaging	Het
Vav2	T	C	2: 27,163,718 (GRCm39)	D628G	probably damaging	Het
Vmn2r107	T	C	17: 20,595,904 (GRCm39)	L819P	probably damaging	Het
Vmn2r25	A	T	6: 123,816,518 (GRCm39)	D354E	possibly damaging	Het
Xrn1	A	G	9: 95,888,873 (GRCm39)	E984G	possibly damaging	Het
Zbtb17	T	C	4: 141,191,557 (GRCm39)	V223A	probably benign	Het
Zfp592	T	C	7: 80,691,186 (GRCm39)	S1122P	possibly 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
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
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'- TGCAAGTCAGATTCTCTTGGC -3'
(R):5'- AACTGAGAGAATGACAGTCCAC -3'

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

Posted On

2014-10-01