Mutagenetix > Incidental Mutation

Incidental Mutation 'R7419:Atf2'

575500

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

045497-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R7419 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73646853-73722983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73672777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 194 (V194A)

Ref Sequence

ENSEMBL: ENSMUSP00000107641 (fasta)

Gene Model

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

AlphaFold

P16951

Predicted Effect

probably benign
Transcript: ENSMUST00000055833
AA Change: V234A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000058521
Gene: ENSMUSG00000027104
AA Change: V234A

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
AA Change: V194A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000088311
Gene: ENSMUSG00000027104
AA Change: V194A

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: V234A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000097588
Gene: ENSMUSG00000027104
AA Change: V234A

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
AA Change: V194A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000107638
Gene: ENSMUSG00000027104
AA Change: V194A

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
AA Change: V194A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000107641
Gene: ENSMUSG00000027104
AA Change: V194A

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: V136A

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107647
Gene: ENSMUSG00000027104
AA Change: V136A

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: V234A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107648
Gene: ENSMUSG00000027104
AA Change: V234A

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

SMART Domains

Protein: ENSMUSP00000114828
Gene: ENSMUSG00000027104
AA Change: V27A

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: ENSMUST00000128531

SMART Domains

Protein: ENSMUSP00000118560
Gene: ENSMUSG00000027104

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136958
AA Change: V136A

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118357
Gene: ENSMUSG00000027104
AA Change: V136A

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

probably benign
Transcript: ENSMUST00000173010
AA Change: V234A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000133632
Gene: ENSMUSG00000027104
AA Change: V234A

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: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (93/94)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,226,959 (GRCm39)	S572P	probably damaging	Het
Abca13	T	C	11: 9,247,833 (GRCm39)	Y2527H	probably damaging	Het
Abcc5	A	G	16: 20,241,173 (GRCm39)	I4T	possibly damaging	Het
Adamts12	C	T	15: 11,317,365 (GRCm39)	T1355I	probably benign	Het
Aloxe3	A	G	11: 69,018,353 (GRCm39)	T117A	probably benign	Het
Asb15	A	G	6: 24,556,555 (GRCm39)	I17V	probably benign	Het
Capn7	T	C	14: 31,071,779 (GRCm39)	V221A	probably benign	Het
Ccdc107	A	T	4: 43,493,512 (GRCm39)	S28C	probably benign	Het
Cct4	C	T	11: 22,946,420 (GRCm39)	T162I	probably benign	Het
Cdc40	A	T	10: 40,717,439 (GRCm39)	H417Q	probably damaging	Het
Celf1	A	G	2: 90,833,588 (GRCm39)	I115V	probably benign	Het
Ces3a	A	G	8: 105,783,056 (GRCm39)	Y395C	probably damaging	Het
Cfh	C	A	1: 140,033,204 (GRCm39)	C798F	probably damaging	Het
Clstn3	T	C	6: 124,435,088 (GRCm39)	T313A	probably benign	Het
Crmp1	T	A	5: 37,436,229 (GRCm39)	M329K	probably benign	Het
Csf2ra	C	T	19: 61,215,491 (GRCm39)	A76T	possibly damaging	Het
Cspg4	T	A	9: 56,795,727 (GRCm39)	V1154E	possibly damaging	Het
Cyp2a4	A	T	7: 26,014,188 (GRCm39)	N455I	probably benign	Het
Cyp4a32	T	G	4: 115,468,234 (GRCm39)	M268R	probably benign	Het
Dcaf13	T	A	15: 38,993,615 (GRCm39)	I236N	probably damaging	Het
Dennd2a	A	G	6: 39,500,397 (GRCm39)	I56T	probably damaging	Het
Eif2d	T	A	1: 131,098,793 (GRCm39)	S530R	probably benign	Het
Ep300	T	A	15: 81,532,715 (GRCm39)	M1651K	unknown	Het
Epha3	G	A	16: 63,418,657 (GRCm39)	T596I	probably damaging	Het
Fam171a2	C	T	11: 102,329,628 (GRCm39)	C377Y	possibly damaging	Het
Fat4	T	A	3: 39,054,385 (GRCm39)	N4142K	probably damaging	Het
Galnt5	C	A	2: 57,904,937 (GRCm39)	S500Y	probably damaging	Het
Gas6	A	G	8: 13,521,456 (GRCm39)	V431A	probably benign	Het
Gm7544	C	T	1: 82,933,502 (GRCm39)	C56Y	unknown	Het
Golgb1	T	A	16: 36,733,281 (GRCm39)	L884I	possibly damaging	Het
Gpatch2l	T	G	12: 86,312,025 (GRCm39)		probably null	Het
Gpr33	T	C	12: 52,070,050 (GRCm39)	T330A	probably benign	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Ifi205	A	G	1: 173,855,874 (GRCm39)	M52T	possibly damaging	Het
Ino80	A	T	2: 119,210,495 (GRCm39)	D1346E	probably benign	Het
Ino80c	T	C	18: 24,241,836 (GRCm39)	K183R	unknown	Het
Itgal	G	T	7: 126,906,047 (GRCm39)	R379L	probably benign	Het
Itih3	T	A	14: 30,636,730 (GRCm39)	T582S	probably benign	Het
Kcnb2	T	C	1: 15,781,251 (GRCm39)	S708P	possibly damaging	Het
Kcnt1	A	T	2: 25,806,011 (GRCm39)	Y1200F	probably benign	Het
L3mbtl4	G	A	17: 68,948,537 (GRCm39)	D473N	probably benign	Het
Lama1	T	G	17: 68,024,169 (GRCm39)	I89R		Het
Lama2	A	G	10: 27,142,630 (GRCm39)	I616T	probably benign	Het
Lipm	A	C	19: 34,093,881 (GRCm39)	D266A	probably benign	Het
Lrrc4c	A	T	2: 97,460,106 (GRCm39)	H244L	probably benign	Het
Lrrtm3	T	C	10: 63,923,925 (GRCm39)	E414G	probably damaging	Het
Ltbp4	A	G	7: 27,029,192 (GRCm39)	V231A	unknown	Het
Me3	G	T	7: 89,385,927 (GRCm39)	R92L	probably damaging	Het
Mroh7	T	G	4: 106,541,115 (GRCm39)	I1175L	probably benign	Het
Muc16	A	G	9: 18,553,258 (GRCm39)	M4345T	probably benign	Het
Mug2	A	G	6: 122,017,529 (GRCm39)	Y422C	possibly damaging	Het
N6amt1	T	G	16: 87,164,454 (GRCm39)	S214A	possibly damaging	Het
Ogfrl1	G	A	1: 23,422,063 (GRCm39)	Q24*	probably null	Het
Or12e14	A	T	2: 87,677,406 (GRCm39)	T264S	probably benign	Het
Or1ad6	T	A	11: 50,860,152 (GRCm39)	Y102*	probably null	Het
Or2ag2b	T	C	7: 106,417,551 (GRCm39)	L87P	possibly damaging	Het
Or4f14	G	A	2: 111,742,435 (GRCm39)	P280L	probably damaging	Het
Or4k6	A	C	14: 50,475,448 (GRCm39)	V298G	possibly damaging	Het
Or4x13	A	G	2: 90,231,803 (GRCm39)	D266G	probably damaging	Het
Or6b6	A	G	7: 106,571,353 (GRCm39)	M66T	probably benign	Het
Or7g23	A	C	9: 19,086,642 (GRCm39)	M110R	possibly damaging	Het
Or8g23	T	A	9: 38,971,465 (GRCm39)	I166L	probably benign	Het
Or8k3	C	T	2: 86,058,557 (GRCm39)	G253R	probably damaging	Het
Oser1	A	T	2: 163,253,364 (GRCm39)	D48E	probably benign	Het
Piwil4	G	A	9: 14,613,691 (GRCm39)	P867L	probably damaging	Het
Pla2g6	C	T	15: 79,189,898 (GRCm39)		probably null	Het
Plxna1	A	G	6: 89,334,584 (GRCm39)	L15P	unknown	Het
Ppan	C	T	9: 20,803,140 (GRCm39)	T404I	probably benign	Het
Pros1	C	A	16: 62,748,433 (GRCm39)	Y635*	probably null	Het
Rabep2	G	A	7: 126,043,342 (GRCm39)	R414Q	probably benign	Het
Rbms3	T	A	9: 116,651,894 (GRCm39)	E201V	probably damaging	Het
Robo4	A	C	9: 37,314,105 (GRCm39)	I119L	probably benign	Het
S100b	A	T	10: 76,095,820 (GRCm39)	D66V	probably damaging	Het
Serpina1f	A	G	12: 103,656,101 (GRCm39)	S376P	probably damaging	Het
Slc24a4	T	C	12: 102,193,350 (GRCm39)		probably null	Het
Slc30a6	T	C	17: 74,730,424 (GRCm39)	V438A	probably benign	Het
Sobp	A	G	10: 42,897,804 (GRCm39)	S594P	probably benign	Het
Tcstv1b	A	G	13: 120,634,994 (GRCm39)	E92G	probably damaging	Het
Tmem45b	T	C	9: 31,339,334 (GRCm39)	D213G	probably benign	Het
Topbp1	T	A	9: 103,200,543 (GRCm39)	D525E	probably benign	Het
Trim30c	G	T	7: 104,037,472 (GRCm39)	L165I	probably benign	Het
Unc13b	A	T	4: 43,174,023 (GRCm39)	D1617V	unknown	Het
Ush1c	A	G	7: 45,878,679 (GRCm39)	L112P	probably damaging	Het
Vipr1	T	A	9: 121,490,539 (GRCm39)	I195N	probably damaging	Het
Vmn2r38	A	C	7: 9,078,354 (GRCm39)	V676G	probably damaging	Het
Vmn2r87	A	T	10: 130,307,992 (GRCm39)	Y749N	probably damaging	Het
Vps13d	A	T	4: 144,842,073 (GRCm39)	S2615R		Het
Whrn	A	G	4: 63,334,330 (GRCm39)	V828A	possibly damaging	Het
Zbp1	A	G	2: 173,050,958 (GRCm39)	V304A	probably benign	Het
Zeb2	A	T	2: 44,886,359 (GRCm39)	N899K	probably benign	Het
Zfp148	T	C	16: 33,317,511 (GRCm39)	S728P	possibly damaging	Het
Zfp518a	T	A	19: 40,902,207 (GRCm39)	I712N	possibly damaging	Het
Zfp683	T	C	4: 133,786,211 (GRCm39)	V446A	probably benign	Het
Zranb3	A	T	1: 127,891,588 (GRCm39)	V796D	possibly damaging	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
R2256:Atf2	UTSW	2	73,675,855 (GRCm39)	splice site	probably null
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
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'- AGCCAGTCACTACTCTAATGGAAG -3'
(R):5'- TGGGAAGGAGAATACAATCCTTTG -3'

Sequencing Primer
(F):5'- GTCACTACTCTAATGGAAGCTTTTC -3'
(R):5'- AAGGAGAATACAATCCTTTGAGAAAG -3'

Posted On

2019-10-07