Mutagenetix > Incidental Mutation

Incidental Mutation 'R0390:Mef2a'

31598

Institutional Source

Beutler Lab

Gene Symbol

Mef2a

Ensembl Gene

ENSMUSG00000030557

Gene Name

myocyte enhancer factor 2A

Synonyms

A430079H05Rik

MMRRC Submission

038596-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0390 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67231163-67372858 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67251724 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 100 (M100T)

Ref Sequence

ENSEMBL: ENSMUSP00000146872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032776] [ENSMUST00000072460] [ENSMUST00000076325] [ENSMUST00000107476] [ENSMUST00000133074] [ENSMUST00000135493] [ENSMUST00000156690] [ENSMUST00000207715] [ENSMUST00000208512]

AlphaFold

Q60929

Predicted Effect

probably benign
Transcript: ENSMUST00000032776
AA Change: M266T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000032776
Gene: ENSMUSG00000030557
AA Change: M266T

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: M266T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000075664
Gene: ENSMUSG00000030557
AA Change: M266T

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: M264T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000103100
Gene: ENSMUSG00000030557
AA Change: M264T

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: ENSMUST00000133074

SMART Domains

Protein: ENSMUSP00000116144
Gene: ENSMUSG00000030557

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 benign
Transcript: ENSMUST00000135493
AA Change: M264T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000138566
Gene: ENSMUSG00000030557
AA Change: M264T

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: M264T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000117496
Gene: ENSMUSG00000030557
AA Change: M264T

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 damaging
Transcript: ENSMUST00000207715
AA Change: M100T

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207794

Predicted Effect

probably benign
Transcript: ENSMUST00000208512

Meta Mutation Damage Score

0.2074

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 92.0%

Validation Efficiency

98% (110/112)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	T	A	18: 59,075,688 (GRCm38)	V136E	probably damaging	Het
Adam18	C	T	8: 24,674,054 (GRCm38)	G38R	probably benign	Het
Ap2m1	T	C	16: 20,541,099 (GRCm38)	M183T	probably damaging	Het
Apob	A	T	12: 7,988,678 (GRCm38)	I364F	probably damaging	Het
Arl6	A	T	16: 59,622,421 (GRCm38)		probably benign	Het
Cand2	A	G	6: 115,774,653 (GRCm38)	M15V	possibly damaging	Het
Cbl	A	G	9: 44,201,005 (GRCm38)	F131S	probably damaging	Het
Ccdc151	T	A	9: 21,991,708 (GRCm38)	H442L	probably benign	Het
Ccdc74a	A	G	16: 17,650,476 (GRCm38)	S321G	probably benign	Het
Cdc14b	T	C	13: 64,210,192 (GRCm38)		probably benign	Het
Cep152	T	C	2: 125,576,869 (GRCm38)		probably benign	Het
Cep290	A	G	10: 100,508,758 (GRCm38)	E479G	probably benign	Het
Chrm2	T	G	6: 36,524,111 (GRCm38)	I301R	probably benign	Het
Clec2e	A	G	6: 129,093,468 (GRCm38)	W197R	probably damaging	Het
Cnot10	G	T	9: 114,629,150 (GRCm38)	S96*	probably null	Het
Col19a1	A	G	1: 24,289,655 (GRCm38)		probably benign	Het
Csmd2	T	C	4: 128,133,673 (GRCm38)		probably benign	Het
Cthrc1	A	T	15: 39,086,764 (GRCm38)	*172L	probably null	Het
Cul9	A	T	17: 46,528,589 (GRCm38)	I821N	probably benign	Het
Daam1	G	C	12: 71,975,304 (GRCm38)		probably benign	Het
Dhx58	A	T	11: 100,699,264 (GRCm38)	I398N	probably damaging	Het
Dip2b	T	A	15: 100,193,913 (GRCm38)	H844Q	probably damaging	Het
Dmac2	A	G	7: 25,621,029 (GRCm38)	D50G	probably damaging	Het
Dmxl1	C	A	18: 49,879,362 (GRCm38)	Q1529K	probably benign	Het
Dtna	C	T	18: 23,597,501 (GRCm38)	P315L	probably damaging	Het
Ep300	T	C	15: 81,640,116 (GRCm38)	S1382P	unknown	Het
Fat2	A	T	11: 55,310,777 (GRCm38)	N490K	probably damaging	Het
Flg2	T	A	3: 93,200,355 (GRCm38)		probably benign	Het
Gm13084	T	A	4: 143,811,699 (GRCm38)	D234V	probably benign	Het
Gpatch1	T	C	7: 35,281,381 (GRCm38)		probably benign	Het
Grin2a	C	A	16: 9,579,585 (GRCm38)	K879N	possibly damaging	Het
Hacd3	A	C	9: 65,001,022 (GRCm38)	I164S	possibly damaging	Het
Hinfp	A	C	9: 44,298,948 (GRCm38)	C197G	probably damaging	Het
Hsd17b12	T	C	2: 94,114,990 (GRCm38)		probably benign	Het
Hsd3b1	A	T	3: 98,853,039 (GRCm38)	L212Q	probably damaging	Het
Ifrd1	C	T	12: 40,214,094 (GRCm38)		probably null	Het
Igf2bp2	A	G	16: 22,081,801 (GRCm38)	F129L	possibly damaging	Het
Kirrel3	T	A	9: 35,020,163 (GRCm38)	I409N	probably damaging	Het
Klhdc10	T	C	6: 30,447,412 (GRCm38)	I204T	probably damaging	Het
Kpna6	A	T	4: 129,657,804 (GRCm38)	S65R	possibly damaging	Het
Lama3	A	T	18: 12,407,563 (GRCm38)	D308V	probably benign	Het
Larp4b	T	A	13: 9,158,107 (GRCm38)		probably null	Het
Lgr6	C	T	1: 134,994,010 (GRCm38)	A199T	probably damaging	Het
Lyzl1	A	T	18: 4,169,175 (GRCm38)	T11S	probably benign	Het
Man1c1	A	G	4: 134,578,315 (GRCm38)	L366P	probably damaging	Het
Mettl13	G	A	1: 162,538,889 (GRCm38)	H474Y	possibly damaging	Het
Mmp3	A	G	9: 7,451,320 (GRCm38)	D352G	probably benign	Het
Mns1	T	C	9: 72,452,804 (GRCm38)	I412T	probably damaging	Het
Mon2	T	C	10: 123,007,021 (GRCm38)	D1501G	probably null	Het
Mylk	G	T	16: 34,875,620 (GRCm38)	G242W	probably damaging	Het
Nav1	T	C	1: 135,449,966 (GRCm38)	D1715G	possibly damaging	Het
Nckap1l	T	C	15: 103,453,883 (GRCm38)	S2P	probably damaging	Het
Nek3	A	T	8: 22,128,729 (GRCm38)		probably benign	Het
Nfrkb	A	G	9: 31,388,897 (GRCm38)		probably benign	Het
Nlrp4d	T	C	7: 10,388,778 (GRCm38)	D53G	probably benign	Het
Nol8	T	C	13: 49,662,152 (GRCm38)	S561P	probably damaging	Het
Nuf2	A	C	1: 169,525,297 (GRCm38)		probably benign	Het
Ofcc1	T	A	13: 40,015,313 (GRCm38)	D866V	possibly damaging	Het
Olfr195	A	G	16: 59,149,299 (GRCm38)	I150V	probably benign	Het
Optn	A	G	2: 5,046,195 (GRCm38)	L125P	probably benign	Het
Otoa	T	A	7: 121,131,341 (GRCm38)	F588Y	probably benign	Het
Pappa	T	A	4: 65,351,613 (GRCm38)		probably null	Het
Pde5a	T	G	3: 122,835,583 (GRCm38)	C635W	probably damaging	Het
Pdgfb	A	T	15: 80,003,419 (GRCm38)		probably null	Het
Pih1d2	T	A	9: 50,621,046 (GRCm38)	C135S	probably damaging	Het
Plcg1	G	T	2: 160,752,366 (GRCm38)	C361F	probably damaging	Het
Ppp4r4	T	C	12: 103,601,360 (GRCm38)		probably benign	Het
Prdm10	G	A	9: 31,349,268 (GRCm38)		probably null	Het
Prex2	T	A	1: 11,089,706 (GRCm38)		probably null	Het
Prss56	T	G	1: 87,184,730 (GRCm38)		probably null	Het
Prtg	A	G	9: 72,844,958 (GRCm38)	K209E	probably benign	Het
Ptprc	G	A	1: 138,122,575 (GRCm38)	T36I	possibly damaging	Het
Rasgrp4	A	G	7: 29,145,860 (GRCm38)	Y302C	probably damaging	Het
Rb1cc1	T	A	1: 6,248,634 (GRCm38)	M759K	probably damaging	Het
Rbm15b	T	A	9: 106,885,998 (GRCm38)	M324L	probably benign	Het
Rcbtb2	T	C	14: 73,178,547 (GRCm38)	V500A	probably damaging	Het
Rgs6	A	G	12: 83,133,677 (GRCm38)	K434R	probably damaging	Het
Rims1	C	T	1: 22,596,526 (GRCm38)	A125T	possibly damaging	Het
Robo3	A	G	9: 37,422,177 (GRCm38)	V746A	probably benign	Het
Rtl1	C	T	12: 109,591,386 (GRCm38)	E1340K	unknown	Het
Sacs	G	A	14: 61,205,640 (GRCm38)	D1712N	possibly damaging	Het
Samd4b	G	A	7: 28,403,977 (GRCm38)	P19S	probably benign	Het
Samhd1	T	C	2: 157,114,231 (GRCm38)	Y347C	probably damaging	Het
Sema6d	T	A	2: 124,658,490 (GRCm38)	I393N	probably damaging	Het
Sigmar1	C	T	4: 41,741,243 (GRCm38)	A4T	probably benign	Het
Skint9	C	A	4: 112,389,179 (GRCm38)	L245F	probably benign	Het
Slc35f5	T	C	1: 125,585,095 (GRCm38)	L372P	probably damaging	Het
Smc1b	A	T	15: 85,066,277 (GRCm38)	I1182N	probably damaging	Het
Smyd3	A	G	1: 178,957,573 (GRCm38)		probably benign	Het
Sptlc1	T	C	13: 53,337,612 (GRCm38)	D417G	probably benign	Het
Sv2c	T	C	13: 96,088,708 (GRCm38)	N31S	probably benign	Het
Tjp1	T	C	7: 65,314,990 (GRCm38)	D811G	probably damaging	Het
Top2b	A	G	14: 16,418,442 (GRCm38)	T1221A	probably benign	Het
Tph2	T	C	10: 115,174,109 (GRCm38)	D182G	probably damaging	Het
Traf6	C	T	2: 101,688,588 (GRCm38)	Q141*	probably null	Het
Ttn	T	C	2: 76,756,931 (GRCm38)	D21574G	probably damaging	Het
Uba2	T	A	7: 34,151,021 (GRCm38)	N367I	probably benign	Het
Ube2b	T	C	11: 51,988,602 (GRCm38)		probably benign	Het
Ubr5	G	T	15: 38,030,672 (GRCm38)	L426I	probably benign	Het
Ugt2a2	T	A	5: 87,464,148 (GRCm38)	H301L	probably benign	Het
Upf2	T	A	2: 6,018,894 (GRCm38)		probably benign	Het
Utrn	T	C	10: 12,710,060 (GRCm38)	D991G	probably benign	Het
Vmn2r25	T	C	6: 123,823,181 (GRCm38)	D734G	probably damaging	Het
Vmn2r68	T	A	7: 85,233,249 (GRCm38)		probably benign	Het
Vmn2r68	C	G	7: 85,233,258 (GRCm38)		probably null	Het
Vwf	T	A	6: 125,626,361 (GRCm38)	Y891*	probably null	Het
Wwox	C	T	8: 114,706,278 (GRCm38)	T228I	probably benign	Het
Zer1	C	T	2: 30,108,213 (GRCm38)		probably benign	Het
Zfp180	C	T	7: 24,104,707 (GRCm38)	H184Y	possibly damaging	Het
Zfp68	A	T	5: 138,607,225 (GRCm38)	Y279N	probably benign	Het

Other mutations in Mef2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01923:Mef2a	APN	7	67,264,872 (GRCm38)	missense	probably damaging	0.98
IGL02112:Mef2a	APN	7	67,264,872 (GRCm38)	missense	probably damaging	0.98
R0597_Mef2a_122	UTSW	7	67,235,148 (GRCm38)	nonsense	probably null
R4635_Mef2a_439	UTSW	7	67,240,427 (GRCm38)	missense	possibly damaging	0.67
P0024:Mef2a	UTSW	7	67,295,574 (GRCm38)	missense	probably damaging	1.00
R0583:Mef2a	UTSW	7	67,235,148 (GRCm38)	nonsense	probably null
R0584:Mef2a	UTSW	7	67,235,148 (GRCm38)	nonsense	probably null
R0589:Mef2a	UTSW	7	67,235,148 (GRCm38)	nonsense	probably null
R0597:Mef2a	UTSW	7	67,235,148 (GRCm38)	nonsense	probably null
R0608:Mef2a	UTSW	7	67,235,148 (GRCm38)	nonsense	probably null
R0704:Mef2a	UTSW	7	67,235,148 (GRCm38)	nonsense	probably null
R1859:Mef2a	UTSW	7	67,266,018 (GRCm38)	missense	probably damaging	0.97
R2166:Mef2a	UTSW	7	67,266,122 (GRCm38)	missense	probably damaging	1.00
R2427:Mef2a	UTSW	7	67,266,060 (GRCm38)	missense	probably damaging	0.98
R3618:Mef2a	UTSW	7	67,268,327 (GRCm38)	missense	probably benign	0.34
R3619:Mef2a	UTSW	7	67,268,327 (GRCm38)	missense	probably benign	0.34
R4576:Mef2a	UTSW	7	67,240,439 (GRCm38)	missense	probably benign	0.00
R4577:Mef2a	UTSW	7	67,240,439 (GRCm38)	missense	probably benign	0.00
R4578:Mef2a	UTSW	7	67,240,439 (GRCm38)	missense	probably benign	0.00
R4635:Mef2a	UTSW	7	67,240,427 (GRCm38)	missense	possibly damaging	0.67
R5805:Mef2a	UTSW	7	67,251,668 (GRCm38)	missense	possibly damaging	0.89
R7655:Mef2a	UTSW	7	67,295,394 (GRCm38)	missense	probably damaging	0.99
R7656:Mef2a	UTSW	7	67,295,394 (GRCm38)	missense	probably damaging	0.99
R8182:Mef2a	UTSW	7	67,268,127 (GRCm38)	missense	probably benign	0.08
R8526:Mef2a	UTSW	7	67,251,725 (GRCm38)	missense	possibly damaging	0.82
R8870:Mef2a	UTSW	7	67,240,428 (GRCm38)	missense	probably benign
X0011:Mef2a	UTSW	7	67,235,164 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAGGCTTAGAAGACCTCAGAGGA -3'
(R):5'- GGGAACTGTACTAAGTTGGAGAACGTTG -3'

Sequencing Primer
(F):5'- CTTAGAAGACCTCAGAGGAAAAAAC -3'
(R):5'- gaacaaactcaagccactgc -3'

Posted On

2013-04-24