Mutagenetix > Incidental Mutation

Incidental Mutation 'R2256:Atf2'

243323

Institutional Source

Beutler Lab

Gene Symbol

Atf2

Ensembl Gene

ENSMUSG00000027104

Gene Name

activating transcription factor 2

Synonyms

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

MMRRC Submission

040256-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R2256 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73646853-73722983 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 73675855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118357 (fasta)

Gene Model

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

AlphaFold

P16951

Predicted Effect

probably benign
Transcript: ENSMUST00000055833
AA Change: N205K

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000058521
Gene: ENSMUSG00000027104
AA Change: N205K

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: ENSMUST00000090802
AA Change: N165K

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000088311
Gene: ENSMUSG00000027104
AA Change: N165K

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: ENSMUST00000100009
AA Change: N205K

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097588
Gene: ENSMUSG00000027104
AA Change: N205K

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: ENSMUST00000112007
AA Change: N165K

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107638
Gene: ENSMUSG00000027104
AA Change: N165K

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: ENSMUST00000112010
AA Change: N165K

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107641
Gene: ENSMUSG00000027104
AA Change: N165K

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 benign
Transcript: ENSMUST00000112017
AA Change: N205K

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107648
Gene: ENSMUSG00000027104
AA Change: N205K

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: ENSMUST00000154456
AA Change: N122K

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000128531
AA Change: N205K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000118560
Gene: ENSMUSG00000027104
AA Change: N205K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173010
AA Change: N205K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000133632
Gene: ENSMUSG00000027104
AA Change: N205K

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: ENSMUST00000129555

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156455

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 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 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 null
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

Meta Mutation Damage Score

0.1611

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

98% (97/99)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 9,008,431 (GRCm39)	S1200P	probably damaging	Het
Acadsb	A	G	7: 131,045,382 (GRCm39)	Y438C	probably benign	Het
Acp7	A	C	7: 28,313,838 (GRCm39)	W399G	probably damaging	Het
Actr3b	A	G	5: 26,027,403 (GRCm39)	T113A	possibly damaging	Het
Adgrv1	T	C	13: 81,654,259 (GRCm39)	D2204G	probably benign	Het
Ago1	A	G	4: 126,335,704 (GRCm39)	V669A	possibly damaging	Het
Ang5	T	A	14: 44,199,978 (GRCm39)	L14Q	probably null	Het
Aoc1	T	C	6: 48,883,374 (GRCm39)	Y417H	possibly damaging	Het
Arhgap32	T	C	9: 32,158,793 (GRCm39)	I186T	probably damaging	Het
Atg4a	A	G	X: 139,890,984 (GRCm39)	I91V	probably benign	Het
Atp7b	T	G	8: 22,488,282 (GRCm39)	T1102P	probably damaging	Het
Bend5	A	C	4: 111,288,207 (GRCm39)		probably benign	Het
Camkk2	T	C	5: 122,884,398 (GRCm39)	D341G	probably damaging	Het
Cast	T	A	13: 74,888,024 (GRCm39)	I208L	probably damaging	Het
Ccdc141	A	T	2: 76,962,606 (GRCm39)	W113R	probably damaging	Het
Cdk14	T	A	5: 4,938,924 (GRCm39)	M433L	probably benign	Het
Cel	A	G	2: 28,451,204 (GRCm39)	F51S	probably damaging	Het
Cenpc1	A	G	5: 86,164,062 (GRCm39)	L853S	probably damaging	Het
Cep162	C	A	9: 87,088,967 (GRCm39)	D972Y	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Clasrp	A	G	7: 19,320,510 (GRCm39)		probably benign	Het
Cntnap5c	T	A	17: 58,637,310 (GRCm39)	N1062K	probably benign	Het
Col3a1	A	G	1: 45,360,792 (GRCm39)	D74G	unknown	Het
Copb1	T	A	7: 113,853,110 (GRCm39)	D29V	possibly damaging	Het
Cox6a1	C	T	5: 115,486,907 (GRCm39)	E35K	possibly damaging	Het
Cyp2b9	G	A	7: 25,873,030 (GRCm39)		probably null	Het
Ddx46	A	G	13: 55,795,521 (GRCm39)	K177E	possibly damaging	Het
Dmbt1	T	C	7: 130,692,224 (GRCm39)	F823L	probably benign	Het
Drc7	A	T	8: 95,801,637 (GRCm39)	H666L	probably benign	Het
Fam228a	T	C	12: 4,787,775 (GRCm39)		probably benign	Het
Fam83e	A	T	7: 45,378,193 (GRCm39)	K406*	probably null	Het
Fam83e	A	T	7: 45,378,194 (GRCm39)	K406M	possibly damaging	Het
Fam90a1a	T	A	8: 22,453,533 (GRCm39)	L296Q	possibly damaging	Het
Fat1	A	G	8: 45,403,408 (GRCm39)	Y53C	probably damaging	Het
Fhdc1	T	C	3: 84,353,353 (GRCm39)	E624G	probably benign	Het
Fryl	T	A	5: 73,230,187 (GRCm39)	N1657Y	possibly damaging	Het
Fsip2	T	A	2: 82,793,095 (GRCm39)	D417E	probably benign	Het
Garin5b	T	A	7: 4,774,020 (GRCm39)	M31L	probably benign	Het
Greb1l	A	G	18: 10,503,307 (GRCm39)	M453V	possibly damaging	Het
Gtf2b	A	G	3: 142,487,185 (GRCm39)	D207G	probably benign	Het
Has3	C	A	8: 107,600,888 (GRCm39)	L117I	probably damaging	Het
Iqca1l	C	T	5: 24,757,038 (GRCm39)		probably benign	Het
Jmjd1c	T	A	10: 67,061,073 (GRCm39)	I1142N	probably damaging	Het
Lipt2	C	T	7: 99,808,601 (GRCm39)	T38I	probably benign	Het
Magea2	A	T	X: 153,810,855 (GRCm39)	L243Q	probably damaging	Het
Mast4	A	T	13: 102,872,259 (GRCm39)	C2178S	possibly damaging	Het
Mctp2	A	G	7: 71,835,568 (GRCm39)	L543P	probably damaging	Het
Mmut	A	T	17: 41,267,210 (GRCm39)	I595F	probably benign	Het
Mphosph9	C	T	5: 124,421,722 (GRCm39)	V740I	probably benign	Het
Mtrex	A	T	13: 113,013,046 (GRCm39)	M890K	probably damaging	Het
Myo1e	G	A	9: 70,285,655 (GRCm39)		probably null	Het
Nlrc4	A	G	17: 74,752,625 (GRCm39)	I586T	probably damaging	Het
Nom1	T	A	5: 29,642,750 (GRCm39)	V417D	probably damaging	Het
Nphs1	A	T	7: 30,167,417 (GRCm39)	I782F	possibly damaging	Het
Numa1	A	G	7: 101,649,998 (GRCm39)	E1243G	probably damaging	Het
Or4a81	T	C	2: 89,618,814 (GRCm39)	H294R	probably benign	Het
Or4k42	T	C	2: 111,320,323 (GRCm39)	Y60C	probably damaging	Het
Or52e7	A	G	7: 104,685,026 (GRCm39)	Y207C	probably benign	Het
Or5g23	T	A	2: 85,438,807 (GRCm39)	Y149F	possibly damaging	Het
Or5p54	A	T	7: 107,554,244 (GRCm39)	Y132F	probably damaging	Het
Orai2	C	T	5: 136,190,454 (GRCm39)	V52I	probably damaging	Het
Osbpl5	A	G	7: 143,262,831 (GRCm39)	C186R	probably damaging	Het
Osbpl6	A	G	2: 76,414,818 (GRCm39)	E403G	probably damaging	Het
Padi4	G	A	4: 140,487,251 (GRCm39)	T217I	possibly damaging	Het
Parm1	C	T	5: 91,741,980 (GRCm39)	T116I	possibly damaging	Het
Pde4dip	T	A	3: 97,625,500 (GRCm39)	Q1366L	probably damaging	Het
Phgdh	T	C	3: 98,235,607 (GRCm39)	K108E	probably benign	Het
Pold1	T	C	7: 44,183,223 (GRCm39)		probably null	Het
Ppp1r37	G	T	7: 19,295,943 (GRCm39)		probably benign	Het
Sdk2	T	C	11: 113,721,620 (GRCm39)	N1332S	probably benign	Het
Sema6d	A	G	2: 124,506,070 (GRCm39)	D626G	probably damaging	Het
Slc18b1	A	G	10: 23,686,820 (GRCm39)	N212S	probably benign	Het
Slc2a9	T	C	5: 38,610,542 (GRCm39)	T86A	probably damaging	Het
Slco1a6	A	T	6: 142,036,742 (GRCm39)	M555K	probably benign	Het
Sntg2	C	T	12: 30,286,687 (GRCm39)	W302*	probably null	Het
Spata22	T	A	11: 73,231,301 (GRCm39)	M185K	possibly damaging	Het
Stk35	T	A	2: 129,652,427 (GRCm39)	Y309*	probably null	Het
Taar8c	A	G	10: 23,976,969 (GRCm39)	V281A	probably benign	Het
Thoc1	C	A	18: 9,993,466 (GRCm39)	D608E	possibly damaging	Het
Tmem121b	A	T	6: 120,469,030 (GRCm39)	Y562*	probably null	Het
Tmem121b	A	G	6: 120,469,032 (GRCm39)	Y562H	probably damaging	Het
Tmtc4	A	T	14: 123,178,820 (GRCm39)	I449N	probably benign	Het
Tmub1	C	A	5: 24,651,922 (GRCm39)	G14V	possibly damaging	Het
Tmub1	G	A	5: 24,652,175 (GRCm39)		probably benign	Het
Tshz2	A	G	2: 169,728,397 (GRCm39)	T529A	probably damaging	Het
Ugdh	A	T	5: 65,574,458 (GRCm39)		probably benign	Het
Usp25	A	G	16: 76,910,682 (GRCm39)	K913E	probably benign	Het
Vgf	A	G	5: 137,060,401 (GRCm39)		probably benign	Het
Vmn2r19	T	A	6: 123,306,845 (GRCm39)	F451Y	probably benign	Het
Vmn2r59	A	T	7: 41,661,669 (GRCm39)	C715*	probably null	Het
Vps9d1	C	A	8: 123,971,860 (GRCm39)	A582S	probably benign	Het
Xbp1	T	G	11: 5,474,841 (GRCm39)	H247Q	probably damaging	Het
Zfp1008	A	T	13: 62,755,210 (GRCm39)	I36N	probably benign	Het
Zfp319	A	T	8: 96,055,129 (GRCm39)	M358K	possibly damaging	Het
Zfp438	A	T	18: 5,213,508 (GRCm39)	N483K	probably damaging	Het
Zfp518b	T	C	5: 38,828,979 (GRCm39)	N1009D	possibly damaging	Het
Zfp644	A	T	5: 106,783,711 (GRCm39)	H945Q	probably damaging	Het
Zgrf1	T	A	3: 127,355,646 (GRCm39)	S291T	probably benign	Het

Other mutations in Atf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Atf2	APN	2	73,675,847 (GRCm39)	missense	possibly damaging	0.85
IGL01608:Atf2	APN	2	73,649,422 (GRCm39)	missense	probably damaging	1.00
IGL02112:Atf2	APN	2	73,649,381 (GRCm39)	missense	probably damaging	1.00
IGL02469:Atf2	APN	2	73,676,676 (GRCm39)	missense	probably damaging	0.99
IGL02686:Atf2	APN	2	73,675,844 (GRCm39)	missense	possibly damaging	0.90
IGL03381:Atf2	APN	2	73,659,012 (GRCm39)	missense	probably benign	0.13
R0020:Atf2	UTSW	2	73,676,628 (GRCm39)	missense	possibly damaging	0.81
R0020:Atf2	UTSW	2	73,676,628 (GRCm39)	missense	possibly damaging	0.81
R0045:Atf2	UTSW	2	73,660,200 (GRCm39)	missense	probably benign	0.02
R0045:Atf2	UTSW	2	73,660,200 (GRCm39)	missense	probably benign	0.02
R0480:Atf2	UTSW	2	73,649,500 (GRCm39)	splice site	probably benign
R0732:Atf2	UTSW	2	73,675,844 (GRCm39)	missense	possibly damaging	0.90
R1188:Atf2	UTSW	2	73,675,881 (GRCm39)	missense	probably damaging	0.96
R1285:Atf2	UTSW	2	73,675,853 (GRCm39)	missense	probably damaging	1.00
R1287:Atf2	UTSW	2	73,675,853 (GRCm39)	missense	probably damaging	1.00
R1523:Atf2	UTSW	2	73,693,552 (GRCm39)	missense	probably damaging	1.00
R1622:Atf2	UTSW	2	73,684,133 (GRCm39)	splice site	probably null
R1731:Atf2	UTSW	2	73,675,853 (GRCm39)	missense	probably damaging	1.00
R1935:Atf2	UTSW	2	73,676,563 (GRCm39)	missense	probably damaging	1.00
R1939:Atf2	UTSW	2	73,676,563 (GRCm39)	missense	probably damaging	1.00
R1965:Atf2	UTSW	2	73,681,242 (GRCm39)	missense	possibly damaging	0.87
R2000:Atf2	UTSW	2	73,693,584 (GRCm39)	critical splice acceptor site	probably null
R2045:Atf2	UTSW	2	73,693,552 (GRCm39)	missense	probably damaging	1.00
R3147:Atf2	UTSW	2	73,681,283 (GRCm39)	splice site	probably null
R3890:Atf2	UTSW	2	73,693,557 (GRCm39)	missense	probably damaging	1.00
R4680:Atf2	UTSW	2	73,659,025 (GRCm39)	splice site	probably null
R4715:Atf2	UTSW	2	73,653,644 (GRCm39)	missense	probably damaging	1.00
R5161:Atf2	UTSW	2	73,660,134 (GRCm39)	critical splice donor site	probably null
R5853:Atf2	UTSW	2	73,658,813 (GRCm39)	splice site	probably null
R7419:Atf2	UTSW	2	73,672,777 (GRCm39)	missense	probably benign	0.01
R7833:Atf2	UTSW	2	73,684,229 (GRCm39)	missense	possibly damaging	0.94
R9202:Atf2	UTSW	2	73,649,472 (GRCm39)	missense	probably damaging	0.99
R9266:Atf2	UTSW	2	73,649,271 (GRCm39)	missense	probably benign	0.27
R9690:Atf2	UTSW	2	73,675,813 (GRCm39)	missense	probably benign	0.26
X0033:Atf2	UTSW	2	73,676,625 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- TTGTAAGCCAATCAAGCAGTTC -3'
(R):5'- AACTCCCAAGACCTTTCTGATG -3'

Sequencing Primer
(F):5'- CCAACTTACTGGGACTGC -3'
(R):5'- GGAAATCCATGATTTTTCCCCAGG -3'

Posted On

2014-10-16