Mutagenetix > Incidental Mutation

Incidental Mutation 'R7833:Atf2'

605755

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.927) question?

Stock #

R7833 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73816509-73892639 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73853885 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 19 (T19A)

Ref Sequence

ENSEMBL: ENSMUSP00000107647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055833] [ENSMUST00000090802] [ENSMUST00000100009] [ENSMUST00000112007] [ENSMUST00000112010] [ENSMUST00000112016] [ENSMUST00000112017] [ENSMUST00000128531] [ENSMUST00000136958] [ENSMUST00000154456] [ENSMUST00000173010]

AlphaFold

P16951

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055833
AA Change: T19A

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000058521
Gene: ENSMUSG00000027104
AA Change: T19A

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 benign
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

possibly damaging
Transcript: ENSMUST00000100009
AA Change: T19A

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097588
Gene: ENSMUSG00000027104
AA Change: T19A

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 benign
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 benign
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

possibly damaging
Transcript: ENSMUST00000112016
AA Change: T19A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107647
Gene: ENSMUSG00000027104
AA Change: T19A

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

possibly damaging
Transcript: ENSMUST00000112017
AA Change: T19A

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107648
Gene: ENSMUSG00000027104
AA Change: T19A

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

possibly damaging
Transcript: ENSMUST00000128531
AA Change: T19A

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118560
Gene: ENSMUSG00000027104
AA Change: T19A

Domain	Start	End	E-Value	Type
ZnF_C2H2	7	31	4.4e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136958
AA Change: T19A

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118357
Gene: ENSMUSG00000027104
AA Change: T19A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154456

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173010
AA Change: T19A

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133632
Gene: ENSMUSG00000027104
AA Change: T19A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (71/71)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaed1	T	C	13: 64,312,278	S84G	probably benign	Het
Acin1	A	T	14: 54,664,602	S578T	possibly damaging	Het
Acot5	A	G	12: 84,075,827	Q395R	probably damaging	Het
Adamts15	T	A	9: 30,922,105	T45S	probably benign	Het
Agbl2	A	G	2: 90,815,433	K837E	probably benign	Het
Atp6v0a2	T	C	5: 124,645,031	V238A	probably damaging	Het
Atp9a	A	T	2: 168,674,857	V430E	probably benign	Het
Cachd1	G	A	4: 100,974,815	V725I	probably benign	Het
Ccnb1	G	A	13: 100,781,351	T247M	probably damaging	Het
Cd40	A	T	2: 165,066,511	D169V	probably benign	Het
Cdc25c	G	A	18: 34,747,243	T146I	probably benign	Het
Ceacam3	C	A	7: 17,159,853	Q430K		Het
Cerkl	G	A	2: 79,341,380	T378I	probably benign	Het
Cpn2	G	T	16: 30,260,345	N179K	probably damaging	Het
Duox1	A	G	2: 122,324,388	D418G	probably damaging	Het
Eps8l1	C	A	7: 4,468,867	P11T	possibly damaging	Het
Erc1	C	T	6: 119,824,486	W190*	probably null	Het
Exosc7	A	T	9: 123,130,919	E195V	probably benign	Het
F2rl2	A	G	13: 95,700,918	N157S	probably damaging	Het
Fgd2	T	C	17: 29,367,395	L270P	possibly damaging	Het
Fitm2	A	T	2: 163,470,099	W65R	probably damaging	Het
Gabbr1	T	G	17: 37,056,969	I437S	possibly damaging	Het
Galntl6	A	T	8: 57,857,537	S377T	probably benign	Het
Gm17727	T	A	9: 35,777,110	S60C	probably damaging	Het
Gm21936	G	A	12: 87,795,552	R14K	unknown	Het
Gm281	A	T	14: 13,896,968		probably null	Het
Gm340	A	G	19: 41,584,585	D593G	probably benign	Het
Gml2	T	A	15: 74,821,368	C73*	probably null	Het
Htr6	G	T	4: 139,061,831	F304L	probably damaging	Het
Hydin	G	A	8: 110,589,460	G4328D	probably damaging	Het
Kcnj14	T	C	7: 45,817,893	D343G	probably damaging	Het
Klhdc1	T	A	12: 69,283,168	I357N	probably benign	Het
Man2a1	A	G	17: 64,666,751	T341A	probably damaging	Het
Mrm1	A	C	11: 84,818,643	V196G	probably damaging	Het
Mybbp1a	A	G	11: 72,442,901		probably null	Het
Myo19	G	A	11: 84,909,267	C826Y	probably benign	Het
Nbea	A	G	3: 56,002,797	W1326R	probably damaging	Het
Notch1	A	G	2: 26,459,533	*2532Q	probably null	Het
Npas2	A	G	1: 39,326,147	Y287C	probably damaging	Het
Olfr1016	T	A	2: 85,799,949	D107V	probably benign	Het
Olfr401	G	A	11: 74,121,837	D183N	probably damaging	Het
Pcdhga7	C	A	18: 37,716,024	D361E	possibly damaging	Het
Pde10a	T	A	17: 8,961,920	Y447N	possibly damaging	Het
Piwil2	T	A	14: 70,395,441	I561F	probably benign	Het
Pml	C	A	9: 58,234,685	R288L	probably benign	Het
Ppp4r4	A	G	12: 103,598,148	T591A	probably benign	Het
Ptprb	A	G	10: 116,315,251	T273A	probably benign	Het
Ptpro	T	A	6: 137,416,863	L843*	probably null	Het
Qrfpr	T	C	3: 36,189,602	I117V	probably benign	Het
Qrich2	T	C	11: 116,455,765	D1411G	probably benign	Het
Rad51ap2	T	C	12: 11,456,655	S193P	probably benign	Het
Raver1	T	C	9: 21,081,314	E273G	probably benign	Het
Rubcn	C	A	16: 32,868,274		probably benign	Het
S1pr4	C	T	10: 81,498,492	V383I	possibly damaging	Het
Scn7a	T	C	2: 66,676,150	D1465G	probably damaging	Het
Smarca4	T	A	9: 21,647,359	D607E	possibly damaging	Het
Srbd1	T	A	17: 85,985,454	I896L	possibly damaging	Het
Sulf2	G	T	2: 166,079,536	N722K	possibly damaging	Het
Surf1	A	G	2: 26,916,268	Y22H	probably benign	Het
Syngr2	A	G	11: 117,813,156	T150A	probably benign	Het
Szt2	G	T	4: 118,366,219	H3056N	unknown	Het
Tmf1	A	T	6: 97,161,411	S849T	probably benign	Het
Tns1	T	A	1: 74,091,331		probably benign	Het
Trio	G	T	15: 27,774,086	P1764Q	probably damaging	Het
Trpc3	A	T	3: 36,640,672	V711D	probably damaging	Het
Ttll3	G	T	6: 113,409,337	K710N	probably damaging	Het
Unc13c	A	G	9: 73,481,109	S2132P	possibly damaging	Het
Utp20	G	A	10: 88,801,136	P738S	possibly damaging	Het
Vmn2r76	C	T	7: 86,228,684	V502I	probably benign	Het
Vsig1	C	T	X: 140,933,126	H232Y	probably benign	Het
Wdr64	T	G	1: 175,763,945	F390V	probably damaging	Het
Ybx3	T	G	6: 131,367,863	T341P	possibly damaging	Het
Zdhhc11	C	A	13: 73,973,747	Q126K	possibly damaging	Het
Zfp777	G	A	6: 48,025,138	P673S	probably damaging	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
R5161:Atf2	UTSW	2	73829790	critical splice donor site	probably null
R5853:Atf2	UTSW	2	73828469	splice site	probably null
R7419:Atf2	UTSW	2	73842433	missense	probably benign	0.01
R9202:Atf2	UTSW	2	73819128	missense	probably damaging	0.99
R9266:Atf2	UTSW	2	73818927	missense	probably benign	0.27
R9690:Atf2	UTSW	2	73845469	missense	probably benign	0.26
X0033:Atf2	UTSW	2	73846281	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- GAAGCAATTGGACTATCACCAG -3'
(R):5'- CAGGTCGCTCAGATGAGTTATATAC -3'

Sequencing Primer
(F):5'- GCAATTGGACTATCACCAGACTATAG -3'
(R):5'- GTGGGTTTCTCTGATTATTTGAAAAC -3'

Posted On

2019-12-20