Mutagenetix > Incidental Mutations

Incidental Mutation 'R5161:Atf2'

453055

Institutional Source

Beutler Lab

Gene Symbol

Atf2

Ensembl Gene

ENSMUSG00000027104

Gene Name

activating transcription factor 2

Synonyms

D130078H02Rik, mXBP, Creb2, ATF-2, CRE-BP

MMRRC Submission

042743-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R5161 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73816509-73892639 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 73829790 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055833] [ENSMUST00000090802] [ENSMUST00000100009] [ENSMUST00000112007] [ENSMUST00000112010] [ENSMUST00000112016] [ENSMUST00000112017] [ENSMUST00000136958] [ENSMUST00000173010]

AlphaFold

P16951

Predicted Effect

probably null
Transcript: ENSMUST00000055833

SMART Domains

Protein: ENSMUSP00000058521
Gene: ENSMUSG00000027104

Domain	Start	End	E-Value	Type
ZnF_C2H2	7	31	4.4e-2	SMART
low complexity region	237	254	N/A	INTRINSIC
low complexity region	300	316	N/A	INTRINSIC
BRLZ	332	396	3.15e-21	SMART
low complexity region	437	449	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000090802

SMART Domains

Protein: ENSMUSP00000088311
Gene: ENSMUSG00000027104

Domain	Start	End	E-Value	Type
low complexity region	197	214	N/A	INTRINSIC
low complexity region	260	276	N/A	INTRINSIC
BRLZ	292	356	3.15e-21	SMART
low complexity region	397	409	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000100009

SMART Domains

Protein: ENSMUSP00000097588
Gene: ENSMUSG00000027104

Domain	Start	End	E-Value	Type
ZnF_C2H2	7	31	4.4e-2	SMART
low complexity region	237	254	N/A	INTRINSIC
low complexity region	300	316	N/A	INTRINSIC
BRLZ	332	396	3.15e-21	SMART
low complexity region	437	449	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112007

SMART Domains

Protein: ENSMUSP00000107638
Gene: ENSMUSG00000027104

Domain	Start	End	E-Value	Type
low complexity region	197	214	N/A	INTRINSIC
low complexity region	260	276	N/A	INTRINSIC
BRLZ	292	356	3.15e-21	SMART
low complexity region	397	409	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112010

SMART Domains

Protein: ENSMUSP00000107641
Gene: ENSMUSG00000027104

Domain	Start	End	E-Value	Type
low complexity region	197	214	N/A	INTRINSIC
low complexity region	260	276	N/A	INTRINSIC
BRLZ	292	356	3.15e-21	SMART
low complexity region	397	409	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112016

SMART Domains

Protein: ENSMUSP00000107647
Gene: ENSMUSG00000027104

Domain	Start	End	E-Value	Type
ZnF_C2H2	7	31	4.4e-2	SMART
low complexity region	139	156	N/A	INTRINSIC
low complexity region	202	218	N/A	INTRINSIC
BRLZ	234	298	3.15e-21	SMART
low complexity region	339	351	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112017

SMART Domains

Protein: ENSMUSP00000107648
Gene: ENSMUSG00000027104

Domain	Start	End	E-Value	Type
ZnF_C2H2	7	31	4.4e-2	SMART
low complexity region	237	254	N/A	INTRINSIC
low complexity region	300	316	N/A	INTRINSIC
BRLZ	332	396	3.15e-21	SMART
low complexity region	437	449	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000124737

SMART Domains

Protein: ENSMUSP00000114828
Gene: ENSMUSG00000027104

Domain	Start	End	E-Value	Type
low complexity region	31	48	N/A	INTRINSIC
low complexity region	94	110	N/A	INTRINSIC
BRLZ	126	190	3.89e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136958

SMART Domains

Protein: ENSMUSP00000118357
Gene: ENSMUSG00000027104

Domain	Start	End	E-Value	Type
ZnF_C2H2	7	31	4.4e-2	SMART
low complexity region	139	156	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156455

Predicted Effect

probably benign
Transcript: ENSMUST00000173010

SMART Domains

Protein: ENSMUSP00000133632
Gene: ENSMUSG00000027104

Domain	Start	End	E-Value	Type
ZnF_C2H2	7	31	4.4e-2	SMART
low complexity region	237	254	N/A	INTRINSIC
low complexity region	300	316	N/A	INTRINSIC
BRLZ	332	377	1.32e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184729

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (56/57)

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 is a member of the leucine zipper family of DNA binding proteins. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. It forms a homodimer or a heterodimer with c-Jun and stimulates CRE-dependent transcription. This protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. The encoded protein may also be involved in cell's DNA damage response independent of its role in transcriptional regulation. Several alternatively spliced transcript variants have been found for this gene [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous mutation of this gene results in increased postnatal lethality, skeletal development defects, runting, decreased hearing, inner ear and brain abnormalities, hyperactivity, and ataxia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,001	E27*	probably null	Het
1700061G19Rik	A	T	17: 56,882,888	I305F	possibly damaging	Het
3110035E14Rik	G	T	1: 9,622,677	G145*	probably null	Het
4930407I10Rik	G	T	15: 82,063,341	E480*	probably null	Het
Acad11	T	C	9: 104,124,028	I591T	probably benign	Het
Adamts13	G	A	2: 26,993,008	E857K	probably benign	Het
Apopt1	C	A	12: 111,722,774	Q97K	possibly damaging	Het
Cass4	C	A	2: 172,432,324	A675E	probably damaging	Het
Ctsd	A	T	7: 142,377,144	L283Q	probably damaging	Het
Ddrgk1	A	T	2: 130,663,376	M1K	probably null	Het
Dock1	G	A	7: 134,734,062	A62T	possibly damaging	Het
Ehmt1	T	C	2: 24,858,195	D407G	possibly damaging	Het
Eml6	A	G	11: 30,024,467	V37A	probably damaging	Het
Fam20a	C	T	11: 109,673,370	R519Q	probably benign	Het
Fam69b	C	T	2: 26,636,248	T398M	possibly damaging	Het
Fat1	A	G	8: 44,952,512	T767A	probably benign	Het
Fbxl8	A	T	8: 105,268,906	H350L	possibly damaging	Het
Gm10226	A	C	17: 21,691,927	Q23P	possibly damaging	Het
Gm17677	T	A	9: 35,741,588	L42*	probably null	Het
Gm2075	T	A	12: 88,012,117	D90E	possibly damaging	Het
Gm21994	A	T	2: 150,255,215	I98K	probably damaging	Het
Gm38706	A	T	6: 130,482,905		noncoding transcript	Het
Gpatch2l	G	T	12: 86,267,176	R362L	probably benign	Het
H2afy	T	C	13: 56,089,781	D222G	probably benign	Het
Hyal5	A	T	6: 24,891,603	D472V	probably benign	Het
Ighv5-9-1	T	C	12: 113,736,157	S102G	possibly damaging	Het
Itpripl1	A	C	2: 127,141,857	L115R	probably damaging	Het
Itsn1	G	A	16: 91,908,838	C169Y	possibly damaging	Het
Krt88	T	A	15: 101,450,468	C12S	probably benign	Het
Muc4	G	A	16: 32,762,521	V2557M	probably damaging	Het
Myh7b	G	C	2: 155,632,373	R1669S	possibly damaging	Het
Nbeal2	G	T	9: 110,629,868	Q1996K	probably benign	Het
Obscn	T	C	11: 59,028,604	E6205G	probably damaging	Het
Obscn	A	G	11: 59,064,310	Y3926H	possibly damaging	Het
Olfr1436	A	T	19: 12,298,789	S114R	probably damaging	Het
Olfr305	T	C	7: 86,364,338		probably null	Het
P2ry2	A	T	7: 100,998,929	Y56*	probably null	Het
Pde1a	T	C	2: 79,878,144	N242S	probably null	Het
Pik3cg	C	T	12: 32,204,978	E337K	possibly damaging	Het
Plxna2	A	G	1: 194,751,404	N587S	probably benign	Het
Pmpca	T	C	2: 26,395,171		probably null	Het
Ptpn4	C	T	1: 119,707,863	W370*	probably null	Het
Qk	A	T	17: 10,215,490		probably null	Het
Rapgef3	A	G	15: 97,757,725	V427A	probably damaging	Het
Rbbp8	T	G	18: 11,722,114	D465E	probably damaging	Het
Scn2a	A	G	2: 65,764,591	K1928R	probably benign	Het
Slc5a5	A	C	8: 70,888,848	C346G	probably damaging	Het
Spata2l	A	G	8: 123,235,549	L91P	probably damaging	Het
Syt3	C	A	7: 44,396,015	H560N	possibly damaging	Het
Timm23	G	A	14: 32,193,925	P63L	probably damaging	Het
Tmem191c	T	C	16: 17,276,879	S108P	possibly damaging	Het
Ttc21b	A	G	2: 66,229,023	C545R	probably damaging	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Usp17ld	A	T	7: 103,250,372	L451*	probably null	Het
Vmn1r15	T	C	6: 57,258,512	Y122H	probably benign	Het

Other mutations in Atf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Atf2	APN	2	73845503	missense	possibly damaging	0.85
IGL01608:Atf2	APN	2	73819078	missense	probably damaging	1.00
IGL02112:Atf2	APN	2	73819037	missense	probably damaging	1.00
IGL02469:Atf2	APN	2	73846332	missense	probably damaging	0.99
IGL02686:Atf2	APN	2	73845500	missense	possibly damaging	0.90
IGL03381:Atf2	APN	2	73828668	missense	probably benign	0.13
R0020:Atf2	UTSW	2	73846284	missense	possibly damaging	0.81
R0020:Atf2	UTSW	2	73846284	missense	possibly damaging	0.81
R0045:Atf2	UTSW	2	73829856	missense	probably benign	0.02
R0045:Atf2	UTSW	2	73829856	missense	probably benign	0.02
R0480:Atf2	UTSW	2	73819156	splice site	probably benign
R0732:Atf2	UTSW	2	73845500	missense	possibly damaging	0.90
R1188:Atf2	UTSW	2	73845537	missense	probably damaging	0.96
R1285:Atf2	UTSW	2	73845509	missense	probably damaging	1.00
R1287:Atf2	UTSW	2	73845509	missense	probably damaging	1.00
R1523:Atf2	UTSW	2	73863208	missense	probably damaging	1.00
R1622:Atf2	UTSW	2	73853789	splice site	probably null
R1731:Atf2	UTSW	2	73845509	missense	probably damaging	1.00
R1935:Atf2	UTSW	2	73846219	missense	probably damaging	1.00
R1939:Atf2	UTSW	2	73846219	missense	probably damaging	1.00
R1965:Atf2	UTSW	2	73850898	missense	possibly damaging	0.87
R2000:Atf2	UTSW	2	73863240	critical splice acceptor site	probably null
R2045:Atf2	UTSW	2	73863208	missense	probably damaging	1.00
R2256:Atf2	UTSW	2	73845511	splice site	probably null
R3147:Atf2	UTSW	2	73850939	splice site	probably null
R3890:Atf2	UTSW	2	73863213	missense	probably damaging	1.00
R4680:Atf2	UTSW	2	73828681	splice site	probably null
R4715:Atf2	UTSW	2	73823300	missense	probably damaging	1.00
R5853:Atf2	UTSW	2	73828469	splice site	probably null
R7419:Atf2	UTSW	2	73842433	missense	probably benign	0.01
R7833:Atf2	UTSW	2	73853885	missense	possibly damaging	0.94
R9202:Atf2	UTSW	2	73819128	missense	probably damaging	0.99
R9266:Atf2	UTSW	2	73818927	missense	probably benign	0.27
X0033:Atf2	UTSW	2	73846281	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- AAAGCTCTTGGAAGTGATGCTGAG -3'
(R):5'- AATGGCGTTTGCATTTCAGAG -3'

Sequencing Primer
(F):5'- CTGACTACTAGCATGGGTTCCAAAG -3'
(R):5'- CAGAGATTAAAAGCTGCTTTGACCC -3'

Posted On

2017-01-26