Mutagenetix > Incidental Mutation

Incidental Mutation 'P0024:Mef2a'

7741

Institutional Source

Beutler Lab

Gene Symbol

Mef2a

Ensembl Gene

ENSMUSG00000030557

Gene Name

myocyte enhancer factor 2A

Synonyms

A430079H05Rik

MMRRC Submission

038277-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

P0024 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

66880911-67022606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66945322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 20 (T20I)

Ref Sequence

ENSEMBL: ENSMUSP00000117496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032776] [ENSMUST00000072460] [ENSMUST00000076325] [ENSMUST00000107476] [ENSMUST00000133074] [ENSMUST00000135493] [ENSMUST00000156690] [ENSMUST00000208512]

AlphaFold

Q60929

Predicted Effect

probably damaging
Transcript: ENSMUST00000032776
AA Change: T20I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032776
Gene: ENSMUSG00000030557
AA Change: T20I

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

possibly damaging
Transcript: ENSMUST00000072460
AA Change: T20I

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138645
Gene: ENSMUSG00000030557
AA Change: T20I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000076325
AA Change: T20I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075664
Gene: ENSMUSG00000030557
AA Change: T20I

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 damaging
Transcript: ENSMUST00000107476
AA Change: T20I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103100
Gene: ENSMUSG00000030557
AA Change: T20I

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

possibly damaging
Transcript: ENSMUST00000133074
AA Change: T20I

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116144
Gene: ENSMUSG00000030557
AA Change: T20I

Domain	Start	End	E-Value	Type
MADS	1	60	6.15e-37	SMART
Pfam:HJURP_C	90	153	8.7e-9	PFAM
low complexity region	159	179	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000135493
AA Change: T20I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138566
Gene: ENSMUSG00000030557
AA Change: T20I

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 damaging
Transcript: ENSMUST00000156690
AA Change: T20I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117496
Gene: ENSMUSG00000030557
AA Change: T20I

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: ENSMUST00000208512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207486

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208823

Meta Mutation Damage Score

0.9504

Coding Region Coverage

1x: 71.8%
3x: 61.2%
10x: 33.0%
20x: 13.9%

Validation Efficiency

80% (70/87)

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: 3 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdca8	C	T	4: 124,820,457 (GRCm39)		probably null	Het
Scmh1	T	C	4: 120,335,231 (GRCm39)	F139L	probably damaging	Het
Zfp708	C	A	13: 67,218,984 (GRCm39)	E247*	probably null	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
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
R0597: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

Posted On

2012-10-29