Mutagenetix > Incidental Mutation

Incidental Mutation 'R4893:Atf6b'

377441

Institutional Source

Beutler Lab

Gene Symbol

Atf6b

Ensembl Gene

ENSMUSG00000015461

Gene Name

activating transcription factor 6 beta

Synonyms

ATF6beta, Creb-rp, Crebl1

MMRRC Submission

042498-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

R4893 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34866120-34874048 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34867586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 100 (S100P)

Ref Sequence

ENSEMBL: ENSMUSP00000015605 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015605] [ENSMUST00000036720] [ENSMUST00000173984] [ENSMUST00000174519] [ENSMUST00000174614] [ENSMUST00000174796]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000015605
AA Change: S100P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000015605
Gene: ENSMUSG00000015461
AA Change: S100P

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 damaging
Transcript: ENSMUST00000173984
AA Change: S103P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133516
Gene: ENSMUSG00000015461
AA Change: S103P

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

noncoding transcript
Transcript: ENSMUST00000174600

Predicted Effect

probably benign
Transcript: ENSMUST00000174614

Predicted Effect

probably benign
Transcript: ENSMUST00000174796

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 117,697,904 (GRCm39)	I401T	probably damaging	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Acss1	C	A	2: 150,471,786 (GRCm39)	V323F	probably damaging	Het
Adgrf3	T	G	5: 30,405,476 (GRCm39)	D286A	probably benign	Het
Akap5	T	C	12: 76,376,743 (GRCm39)	V718A	probably damaging	Het
Ankk1	A	G	9: 49,326,983 (GRCm39)	V732A	probably benign	Het
Antxr2	T	A	5: 98,151,931 (GRCm39)	D180V	probably damaging	Het
Arfgef2	T	G	2: 166,708,876 (GRCm39)	F1063V	probably benign	Het
Ascl5	A	T	1: 135,978,917 (GRCm39)	I126F	probably damaging	Het
Aspm	T	A	1: 139,417,577 (GRCm39)		probably null	Het
Baz2a	C	A	10: 127,959,284 (GRCm39)	H1266Q	possibly damaging	Het
Cdh4	A	T	2: 179,489,212 (GRCm39)		probably benign	Het
Celsr3	C	G	9: 108,726,620 (GRCm39)	S3283C	probably damaging	Het
Clca4b	C	T	3: 144,630,934 (GRCm39)	V309M	possibly damaging	Het
Cnbd2	T	C	2: 156,207,104 (GRCm39)	Y436H	probably damaging	Het
Csnk1a1	T	C	18: 61,718,372 (GRCm39)		probably benign	Het
Cstf1	C	T	2: 172,222,444 (GRCm39)	R401C	probably damaging	Het
Cul3	A	G	1: 80,266,567 (GRCm39)	I117T	probably damaging	Het
Dlgap3	A	G	4: 127,088,776 (GRCm39)	D124G	probably damaging	Het
Dnah12	A	G	14: 26,431,325 (GRCm39)	D381G	possibly damaging	Het
Dtna	T	C	18: 23,702,724 (GRCm39)	L85P	probably damaging	Het
Ephb2	A	G	4: 136,387,064 (GRCm39)	I722T	probably damaging	Het
Epn3	A	T	11: 94,382,822 (GRCm39)	F421I	probably damaging	Het
Fam83f	T	A	15: 80,576,156 (GRCm39)	L269H	probably damaging	Het
Fhip2a	T	A	19: 57,370,188 (GRCm39)	H477Q	probably benign	Het
Gata4	G	A	14: 63,439,045 (GRCm39)	A139V	probably benign	Het
Glce	T	C	9: 61,975,777 (GRCm39)	D241G	probably benign	Het
Gm17728	A	T	17: 9,641,063 (GRCm39)	I58F	probably benign	Het
Inhba	A	T	13: 16,201,134 (GRCm39)	D232V	possibly damaging	Het
Itgb2l	C	A	16: 96,229,021 (GRCm39)	R394L	probably benign	Het
Klhl14	T	C	18: 21,690,992 (GRCm39)	Y486C	probably damaging	Het
Krt1	A	G	15: 101,758,555 (GRCm39)	I203T	probably damaging	Het
Lims2	T	C	18: 32,074,864 (GRCm39)		probably null	Het
Lrrc31	T	G	3: 30,733,446 (GRCm39)	I423L	probably benign	Het
Map7d1	C	T	4: 126,127,015 (GRCm39)	D732N	unknown	Het
Mau2	A	T	8: 70,483,290 (GRCm39)		probably null	Het
Mbtps1	G	A	8: 120,244,932 (GRCm39)	R840W	probably damaging	Het
Morn3	T	C	5: 123,175,745 (GRCm39)	I214M	probably damaging	Het
Mrpl44	A	G	1: 79,755,582 (GRCm39)	K63E	probably damaging	Het
Muc20	T	C	16: 32,615,042 (GRCm39)	T112A	possibly damaging	Het
Myo6	T	A	9: 80,136,159 (GRCm39)	L94Q	probably damaging	Het
Nos1	C	A	5: 118,090,942 (GRCm39)	T1423K	possibly damaging	Het
Or2l13	A	G	16: 19,305,653 (GRCm39)	T22A	probably benign	Het
Or2t1	T	C	14: 14,328,852 (GRCm38)	V247A	probably damaging	Het
Pdzd2	T	C	15: 12,385,429 (GRCm39)	T1114A	probably benign	Het
Pgm2	T	C	5: 64,263,283 (GRCm39)	V310A	probably benign	Het
Pi4ka	T	C	16: 17,194,900 (GRCm39)	E166G	probably benign	Het
Pign	A	T	1: 105,574,436 (GRCm39)	D303E	probably damaging	Het
Pik3c3	G	T	18: 30,415,053 (GRCm39)	V149L	probably benign	Het
Pkd1l3	A	T	8: 110,365,026 (GRCm39)	Y1126F	probably benign	Het
Pkd2l1	T	A	19: 44,142,210 (GRCm39)	Q516L	probably benign	Het
Pnliprp2	C	A	19: 58,759,853 (GRCm39)	Q355K	probably benign	Het
Pnpla7	T	A	2: 24,943,688 (GRCm39)	Y1314*	probably null	Het
Ppp1r1b	A	G	11: 98,246,170 (GRCm39)	T51A	possibly damaging	Het
Prkcd	A	T	14: 30,321,382 (GRCm39)	S544T	probably damaging	Het
Pusl1	G	A	4: 155,973,998 (GRCm39)	T252I	probably benign	Het
Rnf44	A	G	13: 54,829,745 (GRCm39)		probably null	Het
Slc24a2	A	T	4: 87,145,145 (GRCm39)	V303E	probably damaging	Het
Slc28a2	T	A	2: 122,285,697 (GRCm39)		probably null	Het
Sox8	T	C	17: 25,787,963 (GRCm39)	D162G	probably damaging	Het
Spag1	T	C	15: 36,197,992 (GRCm39)		probably null	Het
Taar6	T	C	10: 23,861,298 (GRCm39)	I83V	probably benign	Het
Tes	T	A	6: 17,104,595 (GRCm39)	C359S	probably damaging	Het
Vmn2r4	A	T	3: 64,313,676 (GRCm39)	L435H	probably damaging	Het
Zfhx3	G	T	8: 109,683,639 (GRCm39)	D3693Y	unknown	Het
Zfp931	G	A	2: 177,709,996 (GRCm39)	P130L	probably damaging	Het
Zfr	T	G	15: 12,136,628 (GRCm39)	V95G	unknown	Het
Zw10	A	G	9: 48,985,325 (GRCm39)	E587G	possibly 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
R0285:Atf6b	UTSW	17	34,869,370 (GRCm39)	unclassified	probably benign
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
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'- ACAGGCAATGCTAGGCTCTG -3'
(R):5'- CTGCATGTTCAAAAGGCCCC -3'

Sequencing Primer
(F):5'- AATGCTAGGCTCTGCTCCTC -3'
(R):5'- ATGTTCAAAAGGCCCCTGTCTTC -3'

Posted On

2016-03-17