Mutagenetix > Incidental Mutation

Incidental Mutation 'R8870:Mef2a'

676207

Institutional Source

Beutler Lab

Gene Symbol

Mef2a

Ensembl Gene

ENSMUSG00000030557

Gene Name

myocyte enhancer factor 2A

Synonyms

A430079H05Rik

MMRRC Submission

068684-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8870 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66880911-67022606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66890176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 299 (I299V)

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 benign
Transcript: ENSMUST00000032776
AA Change: I293V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000032776
Gene: ENSMUSG00000030557
AA Change: I293V

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 benign
Transcript: ENSMUST00000076325
AA Change: I293V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000075664
Gene: ENSMUSG00000030557
AA Change: I293V

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: ENSMUST00000107476
AA Change: I291V

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103100
Gene: ENSMUSG00000030557
AA Change: I291V

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 benign
Transcript: ENSMUST00000135493
AA Change: I299V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138566
Gene: ENSMUSG00000030557
AA Change: I299V

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 benign
Transcript: ENSMUST00000156690
AA Change: I299V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117496
Gene: ENSMUSG00000030557
AA Change: I299V

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
AA Change: I135V

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000208512

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,471,840 (GRCm39)	N1082Y	possibly damaging	Het
4930444P10Rik	G	A	1: 16,136,451 (GRCm39)	Q122*	probably null	Het
Afg2a	A	G	3: 37,502,661 (GRCm39)	N607D	probably benign	Het
Ak8	C	T	2: 28,625,602 (GRCm39)	T215M	probably benign	Het
Ano3	T	A	2: 110,614,074 (GRCm39)	I210F	probably benign	Het
Atg9b	A	G	5: 24,592,032 (GRCm39)	F656L	probably damaging	Het
Bscl2	T	C	19: 8,824,793 (GRCm39)	M292T	probably benign	Het
Cachd1	G	T	4: 100,754,978 (GRCm39)	C143F	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Ccnb1ip1	C	T	14: 51,029,450 (GRCm39)	G204E	probably benign	Het
Ccr1	T	A	9: 123,764,022 (GRCm39)	L169F	probably benign	Het
Cdc42bpg	A	G	19: 6,364,550 (GRCm39)	N593D	possibly damaging	Het
Cdh20	T	C	1: 104,873,048 (GRCm39)	S265P	probably damaging	Het
Cenpk	A	G	13: 104,367,365 (GRCm39)	E67G	probably damaging	Het
Cep76	A	T	18: 67,773,190 (GRCm39)	I36K	probably benign	Het
Clock	A	T	5: 76,383,632 (GRCm39)	I507N	probably benign	Het
Cpne1	T	C	2: 155,920,873 (GRCm39)	T110A	probably benign	Het
Crybg2	A	T	4: 133,818,525 (GRCm39)	E1427V	possibly damaging	Het
Ctu1	A	C	7: 43,324,746 (GRCm39)	K62Q	probably damaging	Het
Dnai4	C	T	4: 102,944,529 (GRCm39)		probably null	Het
Drd5	C	A	5: 38,477,747 (GRCm39)	Q247K	possibly damaging	Het
Ect2l	A	T	10: 18,014,608 (GRCm39)	L808*	probably null	Het
Efcab3	A	G	11: 104,791,500 (GRCm39)	T2905A	probably benign	Het
Ficd	A	T	5: 113,876,248 (GRCm39)	D141V	probably damaging	Het
Fnbp1	A	G	2: 30,938,222 (GRCm39)	Y148H		Het
Gm49368	A	G	7: 127,700,685 (GRCm39)	K485R	probably benign	Het
Gpr75	C	A	11: 30,841,860 (GRCm39)	A255D	probably benign	Het
Hcrtr2	G	T	9: 76,153,666 (GRCm39)	A242D	probably damaging	Het
Iapp	G	T	6: 142,244,602 (GRCm39)	V10F	probably benign	Het
Ikzf2	A	G	1: 69,722,417 (GRCm39)	S31P	possibly damaging	Het
Il18rap	G	A	1: 40,564,280 (GRCm39)		probably benign	Het
Irak2	A	T	6: 113,663,902 (GRCm39)	N423Y	probably damaging	Het
Itpkb	A	G	1: 180,159,744 (GRCm39)		probably benign	Het
Itpr1	A	G	6: 108,365,172 (GRCm39)	I874M	probably damaging	Het
Kif26b	G	T	1: 178,692,594 (GRCm39)	V512F	probably damaging	Het
Lhx6	G	A	2: 35,995,232 (GRCm39)		probably benign	Het
Lrfn1	A	G	7: 28,158,918 (GRCm39)	E279G	possibly damaging	Het
Masp1	A	C	16: 23,314,882 (GRCm39)	D126E	probably damaging	Het
Midn	A	G	10: 79,985,939 (GRCm39)	S10G	probably damaging	Het
Mrps12	A	T	7: 28,439,361 (GRCm39)	L118Q	probably damaging	Het
Mxi1	G	A	19: 53,360,126 (GRCm39)	G283S	probably damaging	Het
Mzf1	A	G	7: 12,786,836 (GRCm39)	V78A	probably benign	Het
Ncoa6	A	G	2: 155,263,078 (GRCm39)	V452A	probably damaging	Het
Neb	A	G	2: 52,051,481 (GRCm39)	Y6600H	probably damaging	Het
Nlgn2	A	G	11: 69,716,297 (GRCm39)	L748P	possibly damaging	Het
Nnmt	A	T	9: 48,514,801 (GRCm39)	L72H	probably damaging	Het
Nrxn3	A	G	12: 90,171,560 (GRCm39)	T964A	probably benign	Het
Or12k7	A	G	2: 36,958,982 (GRCm39)	I222V	probably benign	Het
Or1e35	T	G	11: 73,797,725 (GRCm39)	M198L	probably benign	Het
Or2y16	T	A	11: 49,335,350 (GRCm39)	V224E	probably damaging	Het
Or4k35	T	A	2: 111,100,464 (GRCm39)	I83F	possibly damaging	Het
Or5h27	G	A	16: 59,006,130 (GRCm39)	P239S	unknown	Het
Or8c11	A	G	9: 38,289,720 (GRCm39)	N175S	probably benign	Het
Or8g33	A	G	9: 39,337,548 (GRCm39)	V273A	probably damaging	Het
Osbpl11	A	G	16: 33,034,850 (GRCm39)	N280D	probably benign	Het
Peg10	A	T	6: 4,754,825 (GRCm39)	Y202F	probably damaging	Het
Pick1	A	G	15: 79,140,107 (GRCm39)	R469G	unknown	Het
Rev3l	A	G	10: 39,738,786 (GRCm39)	I2847V	probably damaging	Het
Rmc1	A	G	18: 12,321,618 (GRCm39)	E473G	probably benign	Het
Rnaseh2b	T	A	14: 62,569,617 (GRCm39)	L18Q	probably damaging	Het
Rpl19	A	G	11: 97,920,615 (GRCm39)	Y122C	probably benign	Het
Selp	A	G	1: 163,964,787 (GRCm39)	Y483C	probably damaging	Het
Setd2	T	A	9: 110,423,321 (GRCm39)	F347L		Het
Snx14	A	G	9: 88,295,541 (GRCm39)	I208T	probably benign	Het
Spag16	T	A	1: 70,036,017 (GRCm39)	F348L	probably benign	Het
Spata22	A	T	11: 73,231,091 (GRCm39)	N115I	probably damaging	Het
Spata31	T	C	13: 65,068,818 (GRCm39)	V322A	probably benign	Het
Stc1	A	T	14: 69,275,825 (GRCm39)	H206L	probably benign	Het
Tas2r129	A	G	6: 132,928,522 (GRCm39)	D153G	probably damaging	Het
Tmem196	T	A	12: 119,982,268 (GRCm39)	N167K	possibly damaging	Het
Tmpo	T	C	10: 90,987,581 (GRCm39)	T356A	probably damaging	Het
Tnks	A	G	8: 35,314,433 (GRCm39)		probably null	Het
Ttbk1	A	C	17: 46,781,661 (GRCm39)	L364R	probably damaging	Het
Vmn1r176	A	T	7: 23,534,480 (GRCm39)	N224K	probably damaging	Het
Vmn1r36	T	A	6: 66,693,720 (GRCm39)	M52L	probably benign	Het
Vmn2r93	A	T	17: 18,525,320 (GRCm39)	H326L	possibly damaging	Het
Wrn	A	T	8: 33,819,220 (GRCm39)	M244K	probably benign	Het
Zcchc24	C	T	14: 25,757,578 (GRCm39)	A102T	probably benign	Het
Zfp1010	T	A	2: 176,957,312 (GRCm39)	Q62L	probably benign	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
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
X0011:Mef2a	UTSW	7	66,884,912 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTTGTTTAGAAAGCAGCAAGAAC -3'
(R):5'- GACATGCATCTGGGATTAATATGC -3'

Sequencing Primer
(F):5'- CAGAGTCCAGGAAAAGGCCC -3'
(R):5'- GCATCTGGGATTAATATGCTGTAATC -3'

Posted On

2021-07-15