Mutagenetix > Incidental Mutation

Incidental Mutation 'R0597:Mef2a'

55122

Institutional Source

Beutler Lab

Gene Symbol

Mef2a

Ensembl Gene

ENSMUSG00000030557

Gene Name

myocyte enhancer factor 2A

Synonyms

A430079H05Rik

MMRRC Submission

038786-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0597 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

66880911-67022606 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 66884896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 406 (S406*)

Ref Sequence

ENSEMBL: ENSMUSP00000117496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032776] [ENSMUST00000072460] [ENSMUST00000076325] [ENSMUST00000107476] [ENSMUST00000135493] [ENSMUST00000156690] [ENSMUST00000207715] [ENSMUST00000208512]

AlphaFold

Q60929

Predicted Effect

probably null
Transcript: ENSMUST00000032776
AA Change: S400*

SMART Domains

Protein: ENSMUSP00000032776
Gene: ENSMUSG00000030557
AA Change: S400*

Domain	Start	End	E-Value	Type
MADS	1	60	6.15e-37	SMART
Pfam:HJURP_C	90	155	5.2e-30	PFAM
low complexity region	161	181	N/A	INTRINSIC
low complexity region	255	265	N/A	INTRINSIC
low complexity region	301	316	N/A	INTRINSIC
low complexity region	412	431	N/A	INTRINSIC
low complexity region	438	457	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072460

SMART Domains

Protein: ENSMUSP00000138645
Gene: ENSMUSG00000030557

Domain	Start	End	E-Value	Type
MADS	1	60	6.15e-37	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000076325
AA Change: S400*

SMART Domains

Protein: ENSMUSP00000075664
Gene: ENSMUSG00000030557
AA Change: S400*

Domain	Start	End	E-Value	Type
MADS	1	60	6.15e-37	SMART
Pfam:HJURP_C	90	155	5.2e-30	PFAM
low complexity region	161	181	N/A	INTRINSIC
low complexity region	255	265	N/A	INTRINSIC
low complexity region	301	316	N/A	INTRINSIC
low complexity region	412	431	N/A	INTRINSIC
low complexity region	438	457	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000107476
AA Change: S398*

SMART Domains

Protein: ENSMUSP00000103100
Gene: ENSMUSG00000030557
AA Change: S398*

Domain	Start	End	E-Value	Type
MADS	1	60	6.15e-37	SMART
Pfam:HJURP_C	90	153	3.7e-8	PFAM
low complexity region	159	179	N/A	INTRINSIC
low complexity region	253	263	N/A	INTRINSIC
low complexity region	299	314	N/A	INTRINSIC
low complexity region	410	429	N/A	INTRINSIC
low complexity region	436	455	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000135493
AA Change: S406*

SMART Domains

Protein: ENSMUSP00000138566
Gene: ENSMUSG00000030557
AA Change: S406*

Domain	Start	End	E-Value	Type
MADS	1	60	6.15e-37	SMART
Pfam:HJURP_C	90	153	3.7e-8	PFAM
low complexity region	159	179	N/A	INTRINSIC
low complexity region	253	263	N/A	INTRINSIC
low complexity region	288	294	N/A	INTRINSIC
low complexity region	307	322	N/A	INTRINSIC
low complexity region	418	437	N/A	INTRINSIC
low complexity region	444	463	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000156690
AA Change: S406*

SMART Domains

Protein: ENSMUSP00000117496
Gene: ENSMUSG00000030557
AA Change: S406*

Domain	Start	End	E-Value	Type
MADS	1	60	6.15e-37	SMART
Pfam:HJURP_C	90	152	1.3e-8	PFAM
low complexity region	159	179	N/A	INTRINSIC
low complexity region	253	263	N/A	INTRINSIC
low complexity region	288	294	N/A	INTRINSIC
low complexity region	307	322	N/A	INTRINSIC
low complexity region	418	437	N/A	INTRINSIC
low complexity region	444	463	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207794

Predicted Effect

probably benign
Transcript: ENSMUST00000208512

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.4%
20x: 94.1%

Validation Efficiency

97% (71/73)

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 DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Inactivation of this gene results in cardiac sudden death. Mice dying in the early postnatal period exhibit ventricular dilation, while mice dying in adulthood show a reduced number of mitochondria in the heart. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,352,631 (GRCm39)		probably null	Het
Anxa11	T	C	14: 25,874,652 (GRCm39)	I221T	probably damaging	Het
Arhgap33	C	G	7: 30,225,871 (GRCm39)	R565P	probably damaging	Het
Bmpr2	T	C	1: 59,880,584 (GRCm39)		probably benign	Het
Btn2a2	T	A	13: 23,670,580 (GRCm39)	H51L	probably benign	Het
Casz1	T	C	4: 149,028,851 (GRCm39)	S1099P	probably benign	Het
Cnot4	A	G	6: 35,028,438 (GRCm39)	S393P	possibly damaging	Het
Cntnap5a	T	C	1: 116,112,191 (GRCm39)		probably benign	Het
Cobl	T	C	11: 12,204,699 (GRCm39)	T586A	probably benign	Het
Crocc	T	C	4: 140,747,224 (GRCm39)	K1528R	probably benign	Het
Crocc	A	G	4: 140,744,382 (GRCm39)	L1838P	probably benign	Het
Dact2	A	G	17: 14,417,303 (GRCm39)	V299A	probably benign	Het
Dapk1	C	A	13: 60,909,198 (GRCm39)	N1270K	probably benign	Het
Ddx41	T	C	13: 55,680,819 (GRCm39)	Y375C	probably damaging	Het
Dock5	T	A	14: 68,022,383 (GRCm39)		probably null	Het
Dyrk4	T	G	6: 126,863,612 (GRCm39)		probably null	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fam210b	A	G	2: 172,187,773 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,819,712 (GRCm39)	I229T	probably benign	Het
Fbxo39	A	G	11: 72,207,747 (GRCm39)	D33G	probably damaging	Het
Fbxw11	A	G	11: 32,670,496 (GRCm39)	E120G	probably damaging	Het
Fbxw2	A	T	2: 34,701,032 (GRCm39)	L261Q	probably damaging	Het
Gm5800	A	C	14: 51,953,461 (GRCm39)	N51K	probably benign	Het
Gm6899	A	G	11: 26,543,768 (GRCm39)		probably benign	Het
Gpx8	T	C	13: 113,182,035 (GRCm39)	T133A	possibly damaging	Het
Grin3a	C	T	4: 49,665,351 (GRCm39)	V1095M	probably damaging	Het
Grip2	T	C	6: 91,773,178 (GRCm39)		probably benign	Het
Hacd4	A	G	4: 88,355,757 (GRCm39)	F43L	probably damaging	Het
Hif1a	T	G	12: 73,989,049 (GRCm39)	S645R	probably benign	Het
Hipk3	A	G	2: 104,263,982 (GRCm39)	S839P	possibly damaging	Het
Idi2l	C	A	13: 8,990,802 (GRCm39)		probably benign	Het
Il16	A	T	7: 83,327,183 (GRCm39)		probably benign	Het
Il3ra	T	A	14: 14,351,166 (GRCm38)		probably null	Het
Il5ra	A	G	6: 106,721,296 (GRCm39)	M1T	probably null	Het
Klra2	G	A	6: 131,197,148 (GRCm39)	R251C	probably benign	Het
Lamc2	C	T	1: 153,009,367 (GRCm39)	V813M	probably benign	Het
Lbr	A	G	1: 181,659,778 (GRCm39)	V139A	probably benign	Het
Lrp5	T	C	19: 3,650,777 (GRCm39)	D1219G	possibly damaging	Het
Map3k6	C	T	4: 132,972,863 (GRCm39)	P341S	possibly damaging	Het
Mcts2	A	G	2: 152,529,609 (GRCm39)	E140G	probably benign	Het
Med1	T	C	11: 98,060,264 (GRCm39)	M222V	probably benign	Het
Muc19	A	T	15: 91,784,696 (GRCm39)		noncoding transcript	Het
Nr1h2	A	G	7: 44,201,684 (GRCm39)		probably benign	Het
Or13j1	A	T	4: 43,706,592 (GRCm39)		probably null	Het
Or2w6	C	A	13: 21,843,316 (GRCm39)	R59L	probably damaging	Het
Or56a42-ps1	A	G	7: 104,777,425 (GRCm39)	V73A	possibly damaging	Het
Or5ac23	A	T	16: 59,149,123 (GRCm39)	F250I	probably damaging	Het
P4hb	G	A	11: 120,459,070 (GRCm39)	T141I	possibly damaging	Het
Polr3a	A	G	14: 24,534,202 (GRCm39)	V101A	probably benign	Het
Pou4f2	A	G	8: 79,161,869 (GRCm39)	S245P	probably benign	Het
Pramel26	G	T	4: 143,539,222 (GRCm39)	N90K	probably damaging	Het
Rnpep	A	G	1: 135,200,157 (GRCm39)	V266A	probably damaging	Het
Scly	G	A	1: 91,237,555 (GRCm39)	G206R	probably damaging	Het
Sec14l3	A	T	11: 4,024,814 (GRCm39)	K254N	probably damaging	Het
Sgpp1	A	T	12: 75,781,874 (GRCm39)	I155N	probably damaging	Het
Slc22a14	A	G	9: 119,001,190 (GRCm39)	L468P	probably damaging	Het
Slc22a27	A	G	19: 7,843,249 (GRCm39)	F377L	probably benign	Het
Slc44a3	T	C	3: 121,253,719 (GRCm39)	I625V	probably benign	Het
Slc47a2	A	T	11: 61,200,802 (GRCm39)	I373N	probably damaging	Het
Slfn10-ps	A	T	11: 82,926,479 (GRCm39)		noncoding transcript	Het
Smarcd1	T	A	15: 99,608,975 (GRCm39)	I383N	probably damaging	Het
Sort1	A	G	3: 108,246,226 (GRCm39)	D401G	probably damaging	Het
Sprr2a3	G	T	3: 92,195,897 (GRCm39)	M1I	probably null	Het
Sycp2	A	C	2: 177,998,373 (GRCm39)	V1049G	possibly damaging	Het
Tecrl	T	A	5: 83,502,775 (GRCm39)	K10*	probably null	Het
Tnpo3	A	T	6: 29,578,564 (GRCm39)	C303*	probably null	Het
Vmn2r23	A	G	6: 123,706,680 (GRCm39)	I503M	probably benign	Het
Zbtb8os	T	A	4: 129,240,670 (GRCm39)	I164N	probably damaging	Het
Zfp292	T	C	4: 34,807,399 (GRCm39)	N1882D	probably benign	Het
Zfp91	T	C	19: 12,747,459 (GRCm39)	I555V	possibly damaging	Het

Other mutations in Mef2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01923:Mef2a	APN	7	66,914,620 (GRCm39)	missense	probably damaging	0.98
IGL02112:Mef2a	APN	7	66,914,620 (GRCm39)	missense	probably damaging	0.98
R0597_Mef2a_122	UTSW	7	66,884,896 (GRCm39)	nonsense	probably null
R4635_Mef2a_439	UTSW	7	66,890,175 (GRCm39)	missense	possibly damaging	0.67
P0024:Mef2a	UTSW	7	66,945,322 (GRCm39)	missense	probably damaging	1.00
R0390:Mef2a	UTSW	7	66,901,472 (GRCm39)	missense	probably damaging	0.96
R0583:Mef2a	UTSW	7	66,884,896 (GRCm39)	nonsense	probably null
R0584:Mef2a	UTSW	7	66,884,896 (GRCm39)	nonsense	probably null
R0589:Mef2a	UTSW	7	66,884,896 (GRCm39)	nonsense	probably null
R0608:Mef2a	UTSW	7	66,884,896 (GRCm39)	nonsense	probably null
R0704:Mef2a	UTSW	7	66,884,896 (GRCm39)	nonsense	probably null
R1859:Mef2a	UTSW	7	66,915,766 (GRCm39)	missense	probably damaging	0.97
R2166:Mef2a	UTSW	7	66,915,870 (GRCm39)	missense	probably damaging	1.00
R2427:Mef2a	UTSW	7	66,915,808 (GRCm39)	missense	probably damaging	0.98
R3618:Mef2a	UTSW	7	66,918,075 (GRCm39)	missense	probably benign	0.34
R3619:Mef2a	UTSW	7	66,918,075 (GRCm39)	missense	probably benign	0.34
R4576:Mef2a	UTSW	7	66,890,187 (GRCm39)	missense	probably benign	0.00
R4577:Mef2a	UTSW	7	66,890,187 (GRCm39)	missense	probably benign	0.00
R4578:Mef2a	UTSW	7	66,890,187 (GRCm39)	missense	probably benign	0.00
R4635:Mef2a	UTSW	7	66,890,175 (GRCm39)	missense	possibly damaging	0.67
R5805:Mef2a	UTSW	7	66,901,416 (GRCm39)	missense	possibly damaging	0.89
R7655:Mef2a	UTSW	7	66,945,142 (GRCm39)	missense	probably damaging	0.99
R7656:Mef2a	UTSW	7	66,945,142 (GRCm39)	missense	probably damaging	0.99
R8182:Mef2a	UTSW	7	66,917,875 (GRCm39)	missense	probably benign	0.08
R8526:Mef2a	UTSW	7	66,901,473 (GRCm39)	missense	possibly damaging	0.82
R8870:Mef2a	UTSW	7	66,890,176 (GRCm39)	missense	probably benign
X0011:Mef2a	UTSW	7	66,884,912 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCCTTAGGTCACCCATGTGTCC -3'
(R):5'- TTAGGCCCTCAGTCTTCTCAGACAG -3'

Sequencing Primer
(F):5'- CCTCATGCGTTTTACAGAAGG -3'
(R):5'- CAGACAGTTTCCTGAGCTTTG -3'

Posted On

2013-07-11