Mutagenetix > Incidental Mutation

Incidental Mutation 'R0285:Atf6b'

24703

Institutional Source

Beutler Lab

Gene Symbol

Atf6b

Ensembl Gene

ENSMUSG00000015461

Gene Name

activating transcription factor 6 beta

Synonyms

ATF6beta, Creb-rp, Crebl1

MMRRC Submission

038506-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

R0285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34866120-34874048 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 34869370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015605] [ENSMUST00000036720] [ENSMUST00000173984] [ENSMUST00000174519] [ENSMUST00000174614]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000015605

SMART Domains

Protein: ENSMUSP00000015605
Gene: ENSMUSG00000015461

Domain	Start	End	E-Value	Type
low complexity region	86	110	N/A	INTRINSIC
internal_repeat_1	113	156	2.55e-13	PROSPERO
low complexity region	162	180	N/A	INTRINSIC
internal_repeat_1	186	230	2.55e-13	PROSPERO
low complexity region	238	255	N/A	INTRINSIC
low complexity region	289	301	N/A	INTRINSIC
BRLZ	320	384	7.08e-15	SMART
low complexity region	415	428	N/A	INTRINSIC
low complexity region	484	497	N/A	INTRINSIC
low complexity region	544	557	N/A	INTRINSIC
low complexity region	667	693	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000036720

SMART Domains

Protein: ENSMUSP00000037273
Gene: ENSMUSG00000033739

Domain	Start	End	E-Value	Type
TPR	208	241	2.92e1	SMART
TPR	250	283	4.77e-2	SMART
TPR	284	317	1.89e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173984

SMART Domains

Protein: ENSMUSP00000133516
Gene: ENSMUSG00000015461

Domain	Start	End	E-Value	Type
low complexity region	89	113	N/A	INTRINSIC
internal_repeat_1	116	159	2.54e-13	PROSPERO
low complexity region	165	183	N/A	INTRINSIC
internal_repeat_1	189	233	2.54e-13	PROSPERO
low complexity region	241	258	N/A	INTRINSIC
low complexity region	292	304	N/A	INTRINSIC
BRLZ	323	387	2.9e-17	SMART
low complexity region	418	431	N/A	INTRINSIC
low complexity region	487	500	N/A	INTRINSIC
low complexity region	547	560	N/A	INTRINSIC
low complexity region	670	696	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174156

Predicted Effect

probably benign
Transcript: ENSMUST00000174519

SMART Domains

Protein: ENSMUSP00000133558
Gene: ENSMUSG00000015461

Domain	Start	End	E-Value	Type
low complexity region	23	47	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174614

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.1%
20x: 92.9%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased cellular sensitivity to thapsigargin and tunicamycin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy3	A	G	19: 4,038,193 (GRCm39)	E162G	probably benign	Het
Angptl1	T	C	1: 156,672,785 (GRCm39)	S204P	probably benign	Het
Card11	G	A	5: 140,872,856 (GRCm39)	S619F	probably damaging	Het
Ccdc192	G	A	18: 57,666,937 (GRCm39)	G5S	probably damaging	Het
Ccl11	G	A	11: 81,953,084 (GRCm39)	V81I	probably damaging	Het
Cds1	T	C	5: 101,944,904 (GRCm39)	I126T	probably damaging	Het
Chd1	A	G	17: 17,594,942 (GRCm39)		probably benign	Het
Cndp1	C	A	18: 84,636,363 (GRCm39)	V384F	possibly damaging	Het
Cuta	A	G	17: 27,158,423 (GRCm39)		probably null	Het
Diaph3	G	A	14: 87,352,460 (GRCm39)	T47I	possibly damaging	Het
Dop1a	A	T	9: 86,394,692 (GRCm39)	S598C	probably damaging	Het
Dsp	A	G	13: 38,356,770 (GRCm39)	M217V	probably benign	Het
Entrep1	G	A	19: 23,956,749 (GRCm39)		probably benign	Het
Esyt1	T	A	10: 128,348,087 (GRCm39)	I898F	possibly damaging	Het
Fcsk	G	C	8: 111,620,349 (GRCm39)	H235Q	probably benign	Het
Fgd3	A	T	13: 49,417,424 (GRCm39)	W680R	possibly damaging	Het
Folh1	A	G	7: 86,391,373 (GRCm39)		probably benign	Het
Gadl1	C	A	9: 115,859,806 (GRCm39)		probably benign	Het
Garem1	A	G	18: 21,262,669 (GRCm39)	M715T	probably benign	Het
Gpd2	A	T	2: 57,228,967 (GRCm39)	D257V	probably benign	Het
Hdac7	A	G	15: 97,696,103 (GRCm39)		probably null	Het
Heatr5b	A	G	17: 79,115,882 (GRCm39)	M858T	probably benign	Het
Inpp4b	A	T	8: 82,761,145 (GRCm39)		probably benign	Het
Iqgap3	G	T	3: 88,004,297 (GRCm39)	C461F	probably benign	Het
Lamb1	C	A	12: 31,376,644 (GRCm39)	C559*	probably null	Het
Lratd2	T	C	15: 60,694,816 (GRCm39)	H310R	probably benign	Het
Lrrc31	T	C	3: 30,739,097 (GRCm39)	N308S	probably benign	Het
Ly75	T	C	2: 60,148,663 (GRCm39)	Y1222C	probably damaging	Het
Map3k10	C	A	7: 27,373,325 (GRCm39)	R42L	probably benign	Het
Meioc	A	G	11: 102,563,017 (GRCm39)	T72A	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mmp11	T	C	10: 75,761,502 (GRCm39)	Y366C	probably damaging	Het
N4bp2	T	A	5: 65,963,902 (GRCm39)	D650E	probably benign	Het
Ncoa6	T	C	2: 155,257,621 (GRCm39)	M641V	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nol4l	G	A	2: 153,325,773 (GRCm39)		probably benign	Het
Notch1	T	G	2: 26,350,873 (GRCm39)	D2089A	possibly damaging	Het
Or10q3	A	G	19: 11,848,502 (GRCm39)	L26P	probably damaging	Het
Or13c7	G	A	4: 43,854,398 (GRCm39)	V30M	possibly damaging	Het
Or52h2	A	T	7: 103,838,531 (GRCm39)	Y294*	probably null	Het
Or5b24	A	T	19: 12,912,536 (GRCm39)	M145L	probably benign	Het
Or5l13	A	G	2: 87,780,475 (GRCm39)	I34T	probably damaging	Het
Or5p68	A	G	7: 107,945,706 (GRCm39)	S161P	probably benign	Het
Or8d23	T	A	9: 38,842,070 (GRCm39)	I201N	possibly damaging	Het
Otof	C	T	5: 30,536,877 (GRCm39)		probably null	Het
Paox	T	C	7: 139,709,053 (GRCm39)	F324L	probably damaging	Het
Pycr1	A	T	11: 120,531,142 (GRCm39)	I277N	probably benign	Het
R3hcc1l	A	T	19: 42,564,568 (GRCm39)	H627L	probably damaging	Het
Rab21	G	A	10: 115,126,768 (GRCm39)	S193L	probably benign	Het
Ralgds	T	G	2: 28,440,581 (GRCm39)		probably null	Het
Rbm42	A	G	7: 30,345,265 (GRCm39)	S169P	possibly damaging	Het
Rfpl4	A	G	7: 5,113,377 (GRCm39)	V262A	probably benign	Het
Rhobtb3	A	G	13: 76,025,628 (GRCm39)	I496T	possibly damaging	Het
Rnf31	G	A	14: 55,838,846 (GRCm39)	A901T	probably damaging	Het
Ryr2	T	C	13: 11,731,863 (GRCm39)	D2359G	probably damaging	Het
Sgo2b	A	C	8: 64,381,823 (GRCm39)	Y336*	probably null	Het
Slc16a7	T	A	10: 125,130,500 (GRCm39)	I62L	probably benign	Het
Slc22a21	A	T	11: 53,850,022 (GRCm39)		probably benign	Het
Slc25a21	A	G	12: 56,904,810 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,898,117 (GRCm39)	I532M	probably damaging	Het
Spata31f1a	G	A	4: 42,850,236 (GRCm39)	T640M	probably benign	Het
Srrm4	C	A	5: 116,605,848 (GRCm39)		probably benign	Het
Stxbp1	C	A	2: 32,713,554 (GRCm39)	E27D	probably benign	Het
Sult2a5	T	A	7: 13,362,685 (GRCm39)	Y131N	probably damaging	Het
Svopl	T	C	6: 37,961,457 (GRCm39)	Q492R	probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem87a	A	G	2: 120,224,905 (GRCm39)	S119P	probably benign	Het
Tmprss11c	A	G	5: 86,419,289 (GRCm39)	L90P	probably damaging	Het
Tmprss6	T	A	15: 78,337,068 (GRCm39)	D346V	probably damaging	Het
Ubr4	A	C	4: 139,168,112 (GRCm39)	S2820R	probably damaging	Het
Usp4	T	C	9: 108,255,763 (GRCm39)	V607A	probably benign	Het
Usp45	A	G	4: 21,798,603 (GRCm39)		probably null	Het
Vill	C	T	9: 118,899,895 (GRCm39)		probably benign	Het
Vmn1r13	C	A	6: 57,186,979 (GRCm39)	T46N	probably benign	Het
Vmn2r107	A	G	17: 20,565,873 (GRCm39)	T63A	probably benign	Het
Vmn2r82	T	A	10: 79,232,391 (GRCm39)	W797R	probably damaging	Het
Washc2	T	A	6: 116,198,800 (GRCm39)	D287E	probably damaging	Het
Xpc	G	A	6: 91,475,046 (GRCm39)	L660F	probably damaging	Het

Other mutations in Atf6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01592:Atf6b	APN	17	34,868,111 (GRCm39)	missense	probably damaging	0.99
IGL02010:Atf6b	APN	17	34,873,626 (GRCm39)	missense	probably benign	0.00
IGL02023:Atf6b	APN	17	34,870,841 (GRCm39)	missense	possibly damaging	0.93
IGL02141:Atf6b	APN	17	34,872,251 (GRCm39)	missense	probably benign	0.01
IGL02511:Atf6b	APN	17	34,873,615 (GRCm39)	missense	probably benign	0.01
IGL03347:Atf6b	APN	17	34,872,214 (GRCm39)	missense	probably damaging	1.00
R0112:Atf6b	UTSW	17	34,870,600 (GRCm39)	missense	probably damaging	0.97
R0544:Atf6b	UTSW	17	34,867,273 (GRCm39)	critical splice donor site	probably null
R1618:Atf6b	UTSW	17	34,866,702 (GRCm39)	nonsense	probably null
R1689:Atf6b	UTSW	17	34,869,276 (GRCm39)	missense	probably damaging	0.98
R1823:Atf6b	UTSW	17	34,867,618 (GRCm39)	missense	possibly damaging	0.48
R1996:Atf6b	UTSW	17	34,871,961 (GRCm39)	critical splice acceptor site	probably null
R2057:Atf6b	UTSW	17	34,867,549 (GRCm39)	critical splice acceptor site	probably null
R2058:Atf6b	UTSW	17	34,867,549 (GRCm39)	critical splice acceptor site	probably null
R2059:Atf6b	UTSW	17	34,867,549 (GRCm39)	critical splice acceptor site	probably null
R4290:Atf6b	UTSW	17	34,871,648 (GRCm39)	missense	probably benign	0.00
R4291:Atf6b	UTSW	17	34,871,648 (GRCm39)	missense	probably benign	0.00
R4293:Atf6b	UTSW	17	34,871,648 (GRCm39)	missense	probably benign	0.00
R4880:Atf6b	UTSW	17	34,873,529 (GRCm39)	missense	probably damaging	1.00
R4893:Atf6b	UTSW	17	34,867,586 (GRCm39)	missense	probably damaging	1.00
R5406:Atf6b	UTSW	17	34,872,771 (GRCm39)	nonsense	probably null
R5549:Atf6b	UTSW	17	34,870,657 (GRCm39)	missense	probably damaging	1.00
R5702:Atf6b	UTSW	17	34,869,978 (GRCm39)	missense	possibly damaging	0.93
R6386:Atf6b	UTSW	17	34,870,825 (GRCm39)	missense	probably damaging	0.97
R6833:Atf6b	UTSW	17	34,868,131 (GRCm39)	missense	probably damaging	1.00
R6834:Atf6b	UTSW	17	34,868,131 (GRCm39)	missense	probably damaging	1.00
R7094:Atf6b	UTSW	17	34,872,790 (GRCm39)	critical splice donor site	probably null
R7205:Atf6b	UTSW	17	34,872,703 (GRCm39)	missense	probably damaging	1.00
R7261:Atf6b	UTSW	17	34,869,792 (GRCm39)	missense	probably damaging	0.96
R7969:Atf6b	UTSW	17	34,867,549 (GRCm39)	critical splice acceptor site	probably null
R8103:Atf6b	UTSW	17	34,872,949 (GRCm39)	missense	probably damaging	1.00
R8179:Atf6b	UTSW	17	34,872,968 (GRCm39)	missense	probably damaging	0.99
R8355:Atf6b	UTSW	17	34,867,197 (GRCm39)	missense	probably benign	0.01
R8455:Atf6b	UTSW	17	34,867,197 (GRCm39)	missense	probably benign	0.01
R8499:Atf6b	UTSW	17	34,869,796 (GRCm39)	missense	probably damaging	1.00
R8685:Atf6b	UTSW	17	34,869,320 (GRCm39)	missense	probably benign	0.18
R9273:Atf6b	UTSW	17	34,872,968 (GRCm39)	missense	probably damaging	0.99
R9633:Atf6b	UTSW	17	34,872,507 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- TTATCTGCCAGCCAACTGCTGC -3'
(R):5'- AGGAGACCCCATTACCTGAGGAAC -3'

Sequencing Primer
(F):5'- caggagagggcattactgac -3'
(R):5'- ATGCTGATCTGGACAGCTC -3'

Posted On

2013-04-16