Mutagenetix > Incidental Mutation

Incidental Mutation 'R6242:Atf6'

505271

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: 0.153) question?

Stock #

R6242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

170704674-170867771 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 170793976 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 492 (Q492L)

Ref Sequence

ENSEMBL: ENSMUSP00000027974 (fasta)

Gene Model

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

AlphaFold

F6VAN0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027974
AA Change: Q492L

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027974
Gene: ENSMUSG00000026663
AA Change: Q492L

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

99% (75/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	C	T	9: 50,763,915	E148K	probably benign	Het
1700016K19Rik	T	C	11: 76,000,155	S32P	probably damaging	Het
4933425L06Rik	T	A	13: 105,109,540	V203E	probably benign	Het
Adcy6	G	T	15: 98,604,015	C239*	probably null	Het
Akr1c6	A	G	13: 4,436,362	Q56R	probably benign	Het
Apaf1	T	A	10: 91,062,163	D244V	probably damaging	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Arhgef11	C	A	3: 87,728,078	A898E	probably benign	Het
Asxl3	A	T	18: 22,522,376	N1148Y	probably damaging	Het
Atrnl1	G	T	19: 57,642,478	V226F	probably benign	Het
Cntnap1	A	T	11: 101,182,538	Y615F	probably damaging	Het
Crybg3	T	C	16: 59,555,690	T1734A	probably benign	Het
Ctdp1	A	C	18: 80,459,212	V161G	probably damaging	Het
Cyp4a30b	T	A	4: 115,454,390	V85E	possibly damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Epha6	A	T	16: 59,682,662	W961R	probably damaging	Het
Fam114a1	A	G	5: 65,031,352	E475G	probably damaging	Het
Fam186a	A	G	15: 99,939,907	Y2819H	unknown	Het
Fancm	A	T	12: 65,116,442	Q1460L	probably benign	Het
Fancm	C	A	12: 65,116,449	N1462K	probably benign	Het
Fgf14	T	C	14: 124,676,528	K64E	probably benign	Het
Fndc5	T	C	4: 129,139,895	V152A	probably benign	Het
Garem1	C	G	18: 21,129,172	V862L	possibly damaging	Het
Grin3b	G	A	10: 79,976,179	G814R	probably damaging	Het
Hacd4	A	G	4: 88,414,287	S226P	probably benign	Het
Htt	A	G	5: 34,846,012	Y1277C	probably damaging	Het
Igkv1-131	T	A	6: 67,766,078	D107V	probably damaging	Het
Iqcc	T	C	4: 129,616,846	D292G	probably damaging	Het
Krtap13	C	T	16: 88,751,496	V35I	probably damaging	Het
Lrrc59	G	T	11: 94,634,983	L132F	possibly damaging	Het
Mcub	T	C	3: 129,915,795	S290G	probably benign	Het
Mettl4	A	G	17: 94,735,374	W345R	probably damaging	Het
Msgn1	G	A	12: 11,208,525	R142W	probably damaging	Het
Myo5c	A	G	9: 75,273,611	I761V	probably benign	Het
Neb	T	A	2: 52,176,812	K5879M	probably damaging	Het
Nkd2	C	T	13: 73,822,786	V226M	probably damaging	Het
Olfr1459	T	A	19: 13,146,086	H191L	probably benign	Het
Olfr645	T	G	7: 104,084,564	H172P	possibly damaging	Het
Parp4	T	A	14: 56,595,399	L393*	probably null	Het
Pcdhgb6	G	A	18: 37,743,555	V439I	probably benign	Het
Pde1a	T	A	2: 80,128,792	T15S	probably benign	Het
Pgr	T	A	9: 8,900,979	I171N	probably benign	Het
Podxl	T	A	6: 31,526,245	D296V	probably benign	Het
Polr3e	A	T	7: 120,940,467	E479V	possibly damaging	Het
Prdm10	A	T	9: 31,341,252	H427L	possibly damaging	Het
Prl5a1	A	T	13: 28,142,555	K5*	probably null	Het
Prph	A	G	15: 99,057,123	S325G	probably damaging	Het
Rabl2	C	A	15: 89,584,352	W49L	probably benign	Het
Rbbp8nl	T	A	2: 180,280,974	I209F	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Scn7a	T	C	2: 66,700,766	D589G	probably benign	Het
Sdr42e1	A	T	8: 117,663,197	L235Q	possibly damaging	Het
Serpina3a	T	C	12: 104,116,001	M11T	probably benign	Het
Slc6a4	A	T	11: 77,018,358	K399*	probably null	Het
Slco4c1	T	A	1: 96,839,283	T337S	probably damaging	Het
Spc25	A	T	2: 69,197,211	F112L	probably damaging	Het
Swt1	A	G	1: 151,407,614	S331P	probably benign	Het
Tab1	A	T	15: 80,155,770	K264*	probably null	Het
Tagln3	T	A	16: 45,724,338		probably benign	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Tbck	A	G	3: 132,694,428	D80G	probably benign	Het
Tcim	A	T	8: 24,438,895	M1K	probably null	Het
Thap2	A	G	10: 115,372,926	S37P	unknown	Het
Tjp2	A	T	19: 24,099,603		probably null	Het
Tln1	G	A	4: 43,533,145	S2390L	probably damaging	Het
Trpm5	T	G	7: 143,073,182	I1101L	probably benign	Het
Ttc3	T	G	16: 94,442,695	M831R	probably benign	Het
Tulp3	A	G	6: 128,323,087	C459R	probably damaging	Het
Uaca	G	A	9: 60,870,044	R571Q	probably damaging	Het
Unc13b	A	T	4: 43,165,800	T195S	possibly damaging	Het
Urgcp	A	G	11: 5,716,691	L549P	probably benign	Het
Usp10	G	T	8: 119,941,838	A293S	probably benign	Het
Vmn2r23	A	G	6: 123,704,400	E89G	possibly damaging	Het
Vmn2r75	A	C	7: 86,165,384	D300E	probably damaging	Het
Wif1	T	C	10: 121,034,461	I40T	possibly damaging	Het
Zmynd8	G	A	2: 165,898,947	R6C	possibly 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
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'- TTGATACAGTACCCTGCCTGC -3'
(R):5'- GCTGTTCTTTGGGTCCTATAGAAC -3'

Sequencing Primer
(F):5'- GATACAGTACCCTGCCTGCTAGAG -3'
(R):5'- ATGAACTTCGAGGCTGG -3'

Posted On

2018-02-28