Mutagenetix > Incidental Mutation

Incidental Mutation 'R5860:Atf6'

453817

Institutional Source

Beutler Lab

Gene Symbol

Atf6

Ensembl Gene

ENSMUSG00000026663

Gene Name

activating transcription factor 6

Synonyms

Atf6alpha, 9130025P16Rik, ESTM49

MMRRC Submission

044072-MU

Accession Numbers

Essential gene?

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

Stock #

R5860 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

170532243-170695340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 170669345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 119 (L119F)

Ref Sequence

ENSEMBL: ENSMUSP00000027974 (fasta)

Gene Model

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

AlphaFold

F6VAN0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027974
AA Change: L119F

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027974
Gene: ENSMUSG00000026663
AA Change: L119F

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

0.0870

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.1%
20x: 90.8%

Validation Efficiency

97% (75/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568A12Rik	A	G	1: 34,524,661 (GRCm39)		noncoding transcript	Het
A2ml1	T	C	6: 128,518,024 (GRCm39)	T1421A	probably benign	Het
Actr8	T	A	14: 29,708,242 (GRCm39)	Y150*	probably null	Het
Adamts1	A	G	16: 85,595,432 (GRCm39)	C249R	probably damaging	Het
Adgre1	T	A	17: 57,752,034 (GRCm39)	I594N	probably damaging	Het
B3gat2	G	A	1: 23,854,400 (GRCm39)	W33*	probably null	Het
Bach2	A	G	4: 32,580,268 (GRCm39)	D831G	probably damaging	Het
Ccnk	A	T	12: 108,153,466 (GRCm39)	I76F	probably damaging	Het
Cdyl	A	C	13: 36,042,066 (GRCm39)	K368T	possibly damaging	Het
Chi3l1	A	G	1: 134,112,909 (GRCm39)	T114A	probably benign	Het
Cnppd1	A	G	1: 75,113,131 (GRCm39)	V379A	probably benign	Het
Col11a2	C	A	17: 34,283,159 (GRCm39)		probably benign	Het
Creb3l1	T	C	2: 91,854,399 (GRCm39)	S18G	probably benign	Het
Crybg3	A	C	16: 59,385,632 (GRCm39)	D197E	probably damaging	Het
Cryga	T	C	1: 65,142,527 (GRCm39)		probably benign	Het
Cthrc1	T	C	15: 38,950,080 (GRCm39)	C146R	probably damaging	Het
Cyp2c39	A	T	19: 39,525,270 (GRCm39)	D191V	probably damaging	Het
Dchs1	C	T	7: 105,421,242 (GRCm39)	A393T	probably damaging	Het
Dhx30	G	A	9: 109,913,645 (GRCm39)	T1126I	probably damaging	Het
Dock2	C	T	11: 34,206,562 (GRCm39)	G1345R	probably damaging	Het
Dsc1	T	C	18: 20,228,081 (GRCm39)	E425G	probably damaging	Het
Dynlt2b	A	G	16: 32,247,614 (GRCm39)	Y143C	probably damaging	Het
Exosc8	C	T	3: 54,642,463 (GRCm39)		probably benign	Het
Fat1	C	T	8: 45,504,166 (GRCm39)	A4553V	probably benign	Het
Flnb	T	A	14: 7,931,135 (GRCm38)	L2119Q	probably damaging	Het
Fnbp4	T	A	2: 90,587,826 (GRCm39)	D401E	probably benign	Het
Glyctk	T	C	9: 106,032,906 (GRCm39)	E369G	possibly damaging	Het
Gm14149	C	A	2: 151,066,225 (GRCm39)		noncoding transcript	Het
Golga4	T	C	9: 118,387,174 (GRCm39)	L1432P	probably damaging	Het
Gtpbp4	A	T	13: 9,023,196 (GRCm39)	S623T	probably benign	Het
Insc	A	C	7: 114,390,383 (GRCm39)	S85R	probably damaging	Het
Lgr4	G	A	2: 109,821,496 (GRCm39)	R126H	probably damaging	Het
M1ap	T	A	6: 82,980,795 (GRCm39)	L227Q	probably damaging	Het
Marchf7	T	C	2: 60,067,187 (GRCm39)	I569T	probably damaging	Het
Mbd1	C	A	18: 74,409,768 (GRCm39)	C339*	probably null	Het
Moxd2	T	A	6: 40,857,341 (GRCm39)	Y473F	probably damaging	Het
Mrgpra6	T	C	7: 46,839,099 (GRCm39)	H2R	probably benign	Het
Mtus1	T	G	8: 41,529,303 (GRCm39)	L742F	probably damaging	Het
Nek11	A	G	9: 105,270,160 (GRCm39)	Y21H	probably benign	Het
Notch4	G	T	17: 34,801,392 (GRCm39)	C1080F	probably damaging	Het
Nsd3	C	A	8: 26,156,107 (GRCm39)	P558Q	probably damaging	Het
Oas1e	A	T	5: 120,930,015 (GRCm39)	S168T	probably benign	Het
Ogfr	T	C	2: 180,234,285 (GRCm39)	S119P	probably damaging	Het
Or2y15	A	G	11: 49,350,563 (GRCm39)	D19G	probably damaging	Het
Or8g20	T	A	9: 39,395,767 (GRCm39)	M261L	probably benign	Het
Pde4dip	A	G	3: 97,631,504 (GRCm39)	I1135T	possibly damaging	Het
Prex1	G	A	2: 166,486,604 (GRCm39)		probably benign	Het
Ptprf	T	C	4: 118,068,486 (GRCm39)		probably benign	Het
Rapsn	T	C	2: 90,875,859 (GRCm39)	V359A	probably damaging	Het
Ric1	A	G	19: 29,577,245 (GRCm39)	S1050G	possibly damaging	Het
Rnft2	A	G	5: 118,366,868 (GRCm39)	I290T	possibly damaging	Het
Senp7	C	A	16: 55,975,722 (GRCm39)	A476E	possibly damaging	Het
Serpinh1	G	A	7: 98,995,571 (GRCm39)	S337L	probably damaging	Het
Slc5a12	C	A	2: 110,427,969 (GRCm39)	A8D	probably benign	Het
Smg5	T	A	3: 88,250,214 (GRCm39)	C109S	probably damaging	Het
Speer4b	T	C	5: 27,705,226 (GRCm39)	H49R	possibly damaging	Het
Tas2r109	T	C	6: 132,957,664 (GRCm39)	I89V	probably benign	Het
Tet1	A	G	10: 62,648,399 (GRCm39)		probably null	Het
Tmed6	G	T	8: 107,790,786 (GRCm39)	T87K	probably damaging	Het
Tpgs1	G	A	10: 79,505,545 (GRCm39)	G101D	probably damaging	Het
Trim13	T	G	14: 61,842,188 (GRCm39)	S68R	probably damaging	Het
Vwf	A	G	6: 125,620,053 (GRCm39)	N1577S		Het
Vwf	G	T	6: 125,656,228 (GRCm39)		probably benign	Het
Xpr1	T	C	1: 155,207,868 (GRCm39)		probably benign	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zftraf1	A	T	15: 76,532,391 (GRCm39)	I239N	probably damaging	Het
Zftraf1	T	C	15: 76,540,615 (GRCm39)	Y101C	probably damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably 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
R2164:Atf6	UTSW	1	170,622,304 (GRCm39)	missense	probably damaging	1.00
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	170,669,344 (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'- TCAAGTGGGCCTGGATTCTG -3'
(R):5'- TGAGCGTTGACTTACCAATAGTC -3'

Sequencing Primer
(F):5'- AGCATGCACTTGGTTCACAG -3'
(R):5'- CTTACCAATAGTCACTTATACTGTGC -3'

Posted On

2017-02-10