Mutagenetix > Incidental Mutation

Incidental Mutation 'R0112:Atf6b'

20555

Institutional Source

Beutler Lab

Gene Symbol

Atf6b

Ensembl Gene

ENSMUSG00000015461

Gene Name

activating transcription factor 6 beta

Synonyms

ATF6beta, Creb-rp, Crebl1

MMRRC Submission

038398-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.620) question?

Stock #

R0112 (G1)

Quality Score

Status

Validated (trace)

Chromosome

Chromosomal Location

34866120-34874048 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34870600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 351 (R351L)

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 damaging
Transcript: ENSMUST00000015605
AA Change: R348L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000015605
Gene: ENSMUSG00000015461
AA Change: R348L

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 damaging
Transcript: ENSMUST00000173984
AA Change: R351L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133516
Gene: ENSMUSG00000015461
AA Change: R351L

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (86/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,244,815 (GRCm39)	Y179F	probably benign	Het
Abcd4	A	G	12: 84,659,673 (GRCm39)		probably benign	Het
Abhd12b	C	T	12: 70,227,791 (GRCm39)	T191M	probably benign	Het
Adcy5	A	G	16: 34,976,548 (GRCm39)	E27G	possibly damaging	Het
Adgb	G	A	10: 10,282,902 (GRCm39)		probably benign	Het
Afdn	T	C	17: 14,104,899 (GRCm39)	S1186P	probably damaging	Het
Axin2	T	C	11: 108,830,223 (GRCm39)	S348P	possibly damaging	Het
Bfsp1	A	C	2: 143,669,563 (GRCm39)		probably null	Het
Brd1	A	G	15: 88,614,586 (GRCm39)	V103A	probably benign	Het
Ccdc13	C	A	9: 121,642,547 (GRCm39)	K392N	probably damaging	Het
Ccdc18	A	G	5: 108,321,627 (GRCm39)	K577R	probably damaging	Het
Csmd2	G	T	4: 128,389,822 (GRCm39)	G2186C	probably damaging	Het
Cyp2j5	A	T	4: 96,517,760 (GRCm39)	M484K	probably benign	Het
Defb3	T	A	8: 19,343,423 (GRCm39)	L12Q	probably null	Het
Defb7	G	T	8: 19,545,186 (GRCm39)		probably null	Het
Dhx35	T	A	2: 158,682,540 (GRCm39)	M491K	probably damaging	Het
Dnah17	T	C	11: 117,965,260 (GRCm39)	S2261G	possibly damaging	Het
Dnah5	A	C	15: 28,263,825 (GRCm39)	E853D	probably benign	Het
Dner	C	A	1: 84,560,774 (GRCm39)	A23S	probably benign	Het
Dock5	A	C	14: 68,057,090 (GRCm39)	S539A	probably benign	Het
Dsg2	T	A	18: 20,716,099 (GRCm39)	F317I	probably benign	Het
Enox1	A	T	14: 77,936,638 (GRCm39)	I539F	possibly damaging	Het
Eogt	G	A	6: 97,112,245 (GRCm39)		probably benign	Het
Fbxo22	A	G	9: 55,130,630 (GRCm39)	T300A	probably benign	Het
Fes	T	C	7: 80,033,753 (GRCm39)	D166G	probably damaging	Het
Fn1	A	G	1: 71,648,812 (GRCm39)	S1366P	probably damaging	Het
Fndc3a	A	T	14: 72,777,935 (GRCm39)		probably benign	Het
Foxh1	T	C	15: 76,553,210 (GRCm39)	H168R	probably benign	Het
Galnt14	T	G	17: 73,881,979 (GRCm39)		probably benign	Het
Gdf6	A	G	4: 9,844,482 (GRCm39)	D2G	probably damaging	Het
Gp6	C	A	7: 4,373,183 (GRCm39)	A247S	probably benign	Het
Gp6	G	C	7: 4,374,626 (GRCm39)	P232A	probably benign	Het
Grin2c	A	G	11: 115,141,960 (GRCm39)	Y820H	probably damaging	Het
Gtf2h4	T	C	17: 35,981,340 (GRCm39)	T198A	possibly damaging	Het
Helz	T	C	11: 107,563,774 (GRCm39)		probably benign	Het
Htr1d	A	G	4: 136,170,311 (GRCm39)	E180G	probably benign	Het
Igsf10	A	G	3: 59,233,429 (GRCm39)	V1768A	probably benign	Het
Ints10	A	T	8: 69,279,954 (GRCm39)	T694S	probably damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lipc	T	A	9: 70,727,709 (GRCm39)	Y131F	probably damaging	Het
Litaf	G	T	16: 10,784,375 (GRCm39)	T45K	probably damaging	Het
Lmo7	A	T	14: 102,124,629 (GRCm39)	R363*	probably null	Het
Lrrc37a	A	T	11: 103,391,739 (GRCm39)	Y1229N	probably benign	Het
Man2a2	C	T	7: 80,008,024 (GRCm39)	A943T	probably damaging	Het
Mtor	A	G	4: 148,565,380 (GRCm39)	Y1030C	probably damaging	Het
Naalad2	G	T	9: 18,262,743 (GRCm39)	Y384*	probably null	Het
Nat2	C	T	8: 67,954,378 (GRCm39)	Q163*	probably null	Het
Nell2	A	G	15: 95,329,562 (GRCm39)		probably benign	Het
Nphp3	C	T	9: 103,914,547 (GRCm39)	H102Y	possibly damaging	Het
Olr1	T	C	6: 129,465,869 (GRCm39)	S46G	possibly damaging	Het
Or2y13	A	T	11: 49,414,961 (GRCm39)	H137L	possibly damaging	Het
Or52x1	A	T	7: 104,852,866 (GRCm39)	M228K	probably benign	Het
Or5b94	C	T	19: 12,652,121 (GRCm39)	T184I	probably benign	Het
Parg	C	A	14: 31,924,390 (GRCm39)	A63E	probably damaging	Het
Pik3cg	A	G	12: 32,245,714 (GRCm39)		probably benign	Het
Ripk4	A	G	16: 97,544,761 (GRCm39)	C629R	probably benign	Het
Rnf145	A	G	11: 44,454,978 (GRCm39)	T620A	probably benign	Het
Rskr	T	C	11: 78,182,507 (GRCm39)		probably benign	Het
Samd9l	T	G	6: 3,376,031 (GRCm39)	D410A	possibly damaging	Het
Serpinb9f	A	T	13: 33,511,934 (GRCm39)		probably benign	Het
Slc19a1	T	C	10: 76,877,999 (GRCm39)	I178T	probably benign	Het
Slco1b2	A	T	6: 141,616,837 (GRCm39)	Y390F	probably benign	Het
Speg	A	G	1: 75,361,676 (GRCm39)	E230G	possibly damaging	Het
Tbc1d9	C	A	8: 83,991,466 (GRCm39)		probably benign	Het
Tmem131l	G	A	3: 83,847,894 (GRCm39)	Q324*	probably null	Het
Trf	A	G	9: 103,104,155 (GRCm39)		probably benign	Het
Trp53	T	G	11: 69,479,505 (GRCm39)	Y202D	probably damaging	Het
Trpv1	T	A	11: 73,144,098 (GRCm39)	M618K	probably damaging	Het
Trrap	C	A	5: 144,759,571 (GRCm39)	Y2250*	probably null	Het
Ttc3	A	G	16: 94,186,181 (GRCm39)		probably benign	Het
Ubtfl1	T	G	9: 18,321,083 (GRCm39)	S204A	probably benign	Het
Uck2	A	T	1: 167,055,340 (GRCm39)	Y203N	probably damaging	Het
Utrn	A	T	10: 12,562,209 (GRCm39)	L1280*	probably null	Het
Vmn1r178	A	T	7: 23,593,609 (GRCm39)	H146L	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r108	T	C	17: 20,691,897 (GRCm39)	M209V	probably benign	Het
Vmn2r9	G	A	5: 108,990,991 (GRCm39)	T790I	probably damaging	Het
Vmn2r94	C	A	17: 18,463,866 (GRCm39)	R808L	probably benign	Het
Zbtb7c	A	T	18: 76,269,962 (GRCm39)	S17C	probably damaging	Het
Zfp811	C	T	17: 33,016,738 (GRCm39)	R434Q	probably damaging	Het
Zkscan6	A	T	11: 65,705,689 (GRCm39)		probably benign	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
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
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'- TCCTAAGGAGAGGATTAGCCAGCAC -3'
(R):5'- CAGACAACCTTCCTGTTTCCAGACC -3'

Sequencing Primer
(F):5'- ATTAGCCAGCACTGTGGTC -3'
(R):5'- GTTTCCAGACCCCAGCTTG -3'

Posted On

2013-04-11