Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02141:Atf6b'

281570

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atf6b

Ensembl Gene

ENSMUSG00000015461

Gene Name

activating transcription factor 6 beta

Synonyms

Creb-rp, ATF6beta, Crebl1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

IGL02141

Quality Score

Status

Chromosome

Chromosomal Location

34647146-34655074 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34653277 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 539 (H539Q)

Ref Sequence

ENSEMBL: ENSMUSP00000133516 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000015605
AA Change: H536Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000015605
Gene: ENSMUSG00000015461
AA Change: H536Q

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: ENSMUST00000173984
AA Change: H539Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000133516
Gene: ENSMUSG00000015461
AA Change: H539Q

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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	C	T	5: 146,183,465	A188T	probably benign	Het
2310022B05Rik	A	T	8: 124,637,906		probably benign	Het
4931423N10Rik	T	C	2: 23,230,200	F203L	probably damaging	Het
Arntl2	T	A	6: 146,828,095		probably benign	Het
Bpifb5	G	T	2: 154,229,557		probably null	Het
Cep89	T	A	7: 35,420,924	M377K	probably damaging	Het
Clpx	G	T	9: 65,312,118		probably null	Het
Cops5	T	C	1: 10,035,117	K47E	probably damaging	Het
Cryba2	T	C	1: 74,892,784	N35S	probably benign	Het
Ddx27	A	G	2: 167,020,523	K162E	possibly damaging	Het
Dhx36	A	G	3: 62,493,889	S319P	probably benign	Het
Dram2	A	G	3: 106,571,696		probably benign	Het
Eci2	T	A	13: 34,978,673	T300S	probably benign	Het
Egf	C	A	3: 129,739,982	G70*	probably null	Het
Eif5b	T	C	1: 38,032,322	V444A	probably benign	Het
Elf3	T	C	1: 135,257,707	D23G	possibly damaging	Het
Epb41l4b	A	T	4: 57,103,422		probably null	Het
Fam167a	T	A	14: 63,452,259	S2T	probably benign	Het
Flrt3	A	G	2: 140,660,688	V340A	probably damaging	Het
Gimap3	T	C	6: 48,765,378	E206G	probably benign	Het
Gp6	T	C	7: 4,394,104		probably benign	Het
Gpr158	A	T	2: 21,783,290	M581L	probably damaging	Het
Hapln3	A	G	7: 79,118,145	V167A	probably damaging	Het
Hnrnpll	G	A	17: 80,050,713	T203I	probably benign	Het
Ighv3-6	A	G	12: 114,288,362	I47T	probably damaging	Het
Iqgap1	G	A	7: 80,738,121	T926M	probably damaging	Het
Lonp1	A	T	17: 56,615,086	S765T	probably benign	Het
Lpp	C	T	16: 24,761,615	S27F	probably damaging	Het
Lrit2	T	C	14: 37,068,074		probably benign	Het
Luc7l	C	A	17: 26,253,080	T17K	probably damaging	Het
Mroh1	G	T	15: 76,446,599	S1161I	possibly damaging	Het
Muc5b	T	G	7: 141,853,367	C1091G	unknown	Het
Mut	A	G	17: 40,938,817	T228A	possibly damaging	Het
Nppb	A	T	4: 147,986,006	I11F	probably benign	Het
Nsf	A	T	11: 103,828,525	D650E	probably benign	Het
Ogdh	A	G	11: 6,355,015	K907E	probably damaging	Het
Olfr1351	A	G	10: 79,017,721	Y133C	probably damaging	Het
Olfr344	A	G	2: 36,568,808	D70G	probably damaging	Het
Olfr362	G	A	2: 37,105,425	S75F	probably benign	Het
Pcnx	A	T	12: 81,860,382	Q4L	possibly damaging	Het
Pgc	T	A	17: 47,726,931	L9H	probably damaging	Het
Pikfyve	T	A	1: 65,246,397	S887T	probably benign	Het
Plec	T	C	15: 76,175,615	D3239G	probably damaging	Het
Pole4	T	C	6: 82,648,034	T116A	probably benign	Het
Prpf8	A	G	11: 75,490,672	N300D	possibly damaging	Het
Rara	T	A	11: 98,968,081	Y119N	probably damaging	Het
Rbck1	G	T	2: 152,318,374	R462S	possibly damaging	Het
Setdb2	C	T	14: 59,402,315	R709Q	probably damaging	Het
Slfn2	C	A	11: 83,069,844	N216K	probably benign	Het
Suox	A	G	10: 128,672,098		probably benign	Het
Tars	T	A	15: 11,391,194	Y283F	probably damaging	Het
Trpm4	A	T	7: 45,318,179		probably null	Het
Ubtd2	A	T	11: 32,499,262	K36N	probably benign	Het
Unkl	T	C	17: 25,229,434	L327P	probably damaging	Het
Vmn1r11	T	A	6: 57,137,379	Y9*	probably null	Het
Vps13b	T	C	15: 35,572,081	V948A	probably benign	Het
Zbtb17	A	G	4: 141,464,953	H403R	probably damaging	Het

Other mutations in Atf6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01592:Atf6b	APN	17	34649137	missense	probably damaging	0.99
IGL02010:Atf6b	APN	17	34654652	missense	probably benign	0.00
IGL02023:Atf6b	APN	17	34651867	missense	possibly damaging	0.93
IGL02511:Atf6b	APN	17	34654641	missense	probably benign	0.01
IGL03347:Atf6b	APN	17	34653240	missense	probably damaging	1.00
R0112:Atf6b	UTSW	17	34651626	missense	probably damaging	0.97
R0285:Atf6b	UTSW	17	34650396	unclassified	probably benign
R0544:Atf6b	UTSW	17	34648299	critical splice donor site	probably null
R1618:Atf6b	UTSW	17	34647728	nonsense	probably null
R1689:Atf6b	UTSW	17	34650302	missense	probably damaging	0.98
R1823:Atf6b	UTSW	17	34648644	missense	possibly damaging	0.48
R1996:Atf6b	UTSW	17	34652987	critical splice acceptor site	probably null
R2057:Atf6b	UTSW	17	34648575	critical splice acceptor site	probably null
R2058:Atf6b	UTSW	17	34648575	critical splice acceptor site	probably null
R2059:Atf6b	UTSW	17	34648575	critical splice acceptor site	probably null
R4290:Atf6b	UTSW	17	34652674	missense	probably benign	0.00
R4291:Atf6b	UTSW	17	34652674	missense	probably benign	0.00
R4293:Atf6b	UTSW	17	34652674	missense	probably benign	0.00
R4880:Atf6b	UTSW	17	34654555	missense	probably damaging	1.00
R4893:Atf6b	UTSW	17	34648612	missense	probably damaging	1.00
R5406:Atf6b	UTSW	17	34653797	nonsense	probably null
R5549:Atf6b	UTSW	17	34651683	missense	probably damaging	1.00
R5702:Atf6b	UTSW	17	34651004	missense	possibly damaging	0.93
R6386:Atf6b	UTSW	17	34651851	missense	probably damaging	0.97
R6833:Atf6b	UTSW	17	34649157	missense	probably damaging	1.00
R6834:Atf6b	UTSW	17	34649157	missense	probably damaging	1.00
R7094:Atf6b	UTSW	17	34653816	critical splice donor site	probably null
R7205:Atf6b	UTSW	17	34653729	missense	probably damaging	1.00
R7261:Atf6b	UTSW	17	34650818	missense	probably damaging	0.96
R7969:Atf6b	UTSW	17	34648575	critical splice acceptor site	probably null
R8103:Atf6b	UTSW	17	34653975	missense	probably damaging	1.00
R8179:Atf6b	UTSW	17	34653994	missense	probably damaging	0.99
R8355:Atf6b	UTSW	17	34648223	missense	probably benign	0.01
R8455:Atf6b	UTSW	17	34648223	missense	probably benign	0.01
R8499:Atf6b	UTSW	17	34650822	missense	probably damaging	1.00
R8685:Atf6b	UTSW	17	34650346	missense	probably benign	0.18
R9273:Atf6b	UTSW	17	34653994	missense	probably damaging	0.99
R9633:Atf6b	UTSW	17	34653533	missense	possibly damaging	0.68

Posted On

2015-04-16