Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00819:Mef2c'

11956

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mef2c

Ensembl Gene

ENSMUSG00000005583

Gene Name

myocyte enhancer factor 2C

Synonyms

5430401D19Rik, 9930028G15Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00819

Quality Score

Status

Chromosome

Chromosomal Location

83652153-83815199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83773499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 125 (D125V)

Ref Sequence

ENSEMBL: ENSMUSP00000143315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005722] [ENSMUST00000163888] [ENSMUST00000185052] [ENSMUST00000195904] [ENSMUST00000195984] [ENSMUST00000196207] [ENSMUST00000196493] [ENSMUST00000197146] [ENSMUST00000199105] [ENSMUST00000197722] [ENSMUST00000198064] [ENSMUST00000197681] [ENSMUST00000199019] [ENSMUST00000199210] [ENSMUST00000196730] [ENSMUST00000198069] [ENSMUST00000199167] [ENSMUST00000198217] [ENSMUST00000198199] [ENSMUST00000197938] [ENSMUST00000199432] [ENSMUST00000200394] [ENSMUST00000199450]

AlphaFold

Q8CFN5

Predicted Effect

probably benign
Transcript: ENSMUST00000005722

SMART Domains

Protein: ENSMUSP00000005722
Gene: ENSMUSG00000005583

Domain	Start	End	E-Value	Type
MADS	1	60	3.29e-37	SMART
Pfam:HJURP_C	90	154	5.3e-27	PFAM
low complexity region	314	324	N/A	INTRINSIC
low complexity region	378	394	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163888

SMART Domains

Protein: ENSMUSP00000132547
Gene: ENSMUSG00000005583

Domain	Start	End	E-Value	Type
MADS	1	60	3.29e-37	SMART
Pfam:HJURP_C	90	155	1.4e-17	PFAM
low complexity region	316	326	N/A	INTRINSIC
low complexity region	412	428	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185052

SMART Domains

Protein: ENSMUSP00000138826
Gene: ENSMUSG00000005583

Domain	Start	End	E-Value	Type
MADS	1	60	3.29e-37	SMART
Pfam:HJURP_C	90	154	6e-27	PFAM
low complexity region	322	332	N/A	INTRINSIC
low complexity region	418	434	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000195904
AA Change: D125V

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

SMART Domains

Protein: ENSMUSP00000143339
Gene: ENSMUSG00000005583
AA Change: D125V

Domain	Start	End	E-Value	Type
MADS	1	60	1.1e-39	SMART
Pfam:HJURP_C	90	156	5.8e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000195984
AA Change: D125V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143611
Gene: ENSMUSG00000005583
AA Change: D125V

Domain	Start	End	E-Value	Type
MADS	1	60	1.1e-39	SMART
Pfam:HJURP_C	90	155	2.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196207

SMART Domains

Protein: ENSMUSP00000143221
Gene: ENSMUSG00000005583

Domain	Start	End	E-Value	Type
MADS	1	60	1.1e-39	SMART
Pfam:HJURP_C	90	120	2.6e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000196493
AA Change: D125V

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142897
Gene: ENSMUSG00000005583
AA Change: D125V

Domain	Start	End	E-Value	Type
MADS	1	60	3.29e-37	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000197146
AA Change: D125V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143227
Gene: ENSMUSG00000005583
AA Change: D125V

Domain	Start	End	E-Value	Type
MADS	1	60	3.29e-37	SMART
Pfam:HJURP_C	90	156	9.5e-15	PFAM
low complexity region	324	334	N/A	INTRINSIC
low complexity region	388	404	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000199105
AA Change: D125V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143212
Gene: ENSMUSG00000005583
AA Change: D125V

Domain	Start	End	E-Value	Type
MADS	1	60	3.29e-37	SMART
Pfam:HJURP_C	90	156	1.1e-14	PFAM
low complexity region	324	334	N/A	INTRINSIC
low complexity region	420	436	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000197722
AA Change: D125V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142456
Gene: ENSMUSG00000005583
AA Change: D125V

Domain	Start	End	E-Value	Type
MADS	1	60	1.1e-39	SMART
Pfam:HJURP_C	90	156	2.8e-12	PFAM
low complexity region	324	334	N/A	INTRINSIC
low complexity region	363	374	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000198064
AA Change: D125V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142399
Gene: ENSMUSG00000005583
AA Change: D125V

Domain	Start	End	E-Value	Type
MADS	1	60	3.29e-37	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000197681
AA Change: D125V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143420
Gene: ENSMUSG00000005583
AA Change: D125V

Domain	Start	End	E-Value	Type
MADS	1	60	3.29e-37	SMART
Pfam:HJURP_C	90	156	9.5e-15	PFAM
low complexity region	324	334	N/A	INTRINSIC
low complexity region	388	404	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000199019
AA Change: D125V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143401
Gene: ENSMUSG00000005583
AA Change: D125V

Domain	Start	End	E-Value	Type
MADS	1	60	3.29e-37	SMART
Pfam:HJURP_C	90	156	1.1e-14	PFAM
low complexity region	324	334	N/A	INTRINSIC
low complexity region	420	436	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199262

Predicted Effect

probably benign
Transcript: ENSMUST00000199210

SMART Domains

Protein: ENSMUSP00000142595
Gene: ENSMUSG00000005583

Domain	Start	End	E-Value	Type
MADS	1	60	1.1e-39	SMART
low complexity region	276	286	N/A	INTRINSIC
low complexity region	340	356	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196730

SMART Domains

Protein: ENSMUSP00000143338
Gene: ENSMUSG00000005583

Domain	Start	End	E-Value	Type
MADS	1	60	1.1e-39	SMART
Pfam:HJURP_C	90	154	4.9e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198069

SMART Domains

Protein: ENSMUSP00000143286
Gene: ENSMUSG00000005583

Domain	Start	End	E-Value	Type
MADS	1	60	1.1e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199167

SMART Domains

Protein: ENSMUSP00000142884
Gene: ENSMUSG00000005583

Domain	Start	End	E-Value	Type
MADS	1	60	1.1e-39	SMART
Pfam:HJURP_C	90	154	6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198217

SMART Domains

Protein: ENSMUSP00000142487
Gene: ENSMUSG00000005583

Domain	Start	End	E-Value	Type
MADS	1	60	1.1e-39	SMART
low complexity region	268	278	N/A	INTRINSIC
low complexity region	364	380	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198199

SMART Domains

Protein: ENSMUSP00000143742
Gene: ENSMUSG00000005583

Domain	Start	End	E-Value	Type
MADS	1	60	3.29e-37	SMART
Pfam:HJURP_C	90	153	2e-23	PFAM
low complexity region	314	324	N/A	INTRINSIC
low complexity region	378	394	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197938

SMART Domains

Protein: ENSMUSP00000143187
Gene: ENSMUSG00000005583

Domain	Start	End	E-Value	Type
MADS	1	60	1.1e-39	SMART
Pfam:HJURP_C	90	154	6.8e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000199432
AA Change: D125V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142714
Gene: ENSMUSG00000005583
AA Change: D125V

Domain	Start	End	E-Value	Type
MADS	1	60	1.1e-39	SMART
Pfam:HJURP_C	90	156	3.1e-12	PFAM
low complexity region	316	326	N/A	INTRINSIC
low complexity region	380	396	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000200394
AA Change: D125V

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143598
Gene: ENSMUSG00000005583
AA Change: D125V

Domain	Start	End	E-Value	Type
MADS	1	60	1.1e-39	SMART
Pfam:HJURP_C	90	155	1.6e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000199450
AA Change: D125V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143315
Gene: ENSMUSG00000005583
AA Change: D125V

Domain	Start	End	E-Value	Type
MADS	1	60	3.29e-37	SMART
Pfam:HJURP_C	90	156	5.1e-15	PFAM
low complexity region	316	326	N/A	INTRINSIC
low complexity region	412	428	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200138

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe mental retardation, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene have cardiovascular abnormalities and die as embryos. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	T	3: 96,590,350 (GRCm39)		probably null	Het
Apaf1	G	T	10: 90,833,202 (GRCm39)		probably null	Het
Ash1l	T	A	3: 88,915,043 (GRCm39)	V1891E	possibly damaging	Het
Atm	A	G	9: 53,429,831 (GRCm39)	S402P	probably damaging	Het
Camk2g	C	T	14: 20,787,398 (GRCm39)	G500S	probably damaging	Het
Ccdc150	T	A	1: 54,302,732 (GRCm39)	N117K	probably damaging	Het
Ccl7	A	G	11: 81,937,401 (GRCm39)	N45S	probably benign	Het
Dnah2	A	T	11: 69,364,176 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,902,843 (GRCm39)	I169T	probably benign	Het
Exo1	T	C	1: 175,723,803 (GRCm39)	V383A	probably benign	Het
Fbxl2	A	G	9: 113,813,047 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,305,451 (GRCm39)	V106D	possibly damaging	Het
Fsip1	C	A	2: 118,080,393 (GRCm39)	R121L	possibly damaging	Het
Igsf9	T	C	1: 172,324,203 (GRCm39)	S789P	probably benign	Het
Klf7	T	C	1: 64,081,476 (GRCm39)	D284G	possibly damaging	Het
Mbtd1	A	G	11: 93,822,637 (GRCm39)		probably null	Het
Nectin4	T	C	1: 171,212,254 (GRCm39)	L284S	probably damaging	Het
Numa1	G	T	7: 101,641,917 (GRCm39)	G122W	possibly damaging	Het
Pcbd1	A	C	10: 60,927,919 (GRCm39)	E27A	probably benign	Het
Pclo	A	G	5: 14,908,860 (GRCm39)	N5056S	unknown	Het
Pelp1	G	A	11: 70,285,444 (GRCm39)	P808L	unknown	Het
Ppp1r12a	T	C	10: 108,076,682 (GRCm39)	S304P	probably damaging	Het
Ppp1r7	T	A	1: 93,273,978 (GRCm39)	D51E	probably benign	Het
Rassf6	T	C	5: 90,751,930 (GRCm39)	K308E	probably benign	Het
Rel	A	T	11: 23,693,029 (GRCm39)	F335I	probably benign	Het
Scnn1g	A	G	7: 121,339,660 (GRCm39)	E153G	probably benign	Het
Slc2a5	T	C	4: 150,210,113 (GRCm39)	Y33H	probably damaging	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Tpra1	T	A	6: 88,886,318 (GRCm39)	Y65*	probably null	Het
Trip12	C	T	1: 84,731,993 (GRCm39)	G994S	probably damaging	Het
Trnt1	T	A	6: 106,753,183 (GRCm39)	Y195*	probably null	Het
Ttn	A	G	2: 76,573,394 (GRCm39)	I17506T	probably damaging	Het
Ubr4	C	T	4: 139,203,593 (GRCm39)	T4761I	possibly damaging	Het
Vmn1r204	T	A	13: 22,741,117 (GRCm39)	Y249*	probably null	Het
Zfp212	C	T	6: 47,908,256 (GRCm39)	P412S	probably damaging	Het
Zhx1	A	G	15: 57,918,090 (GRCm39)	V52A	probably benign	Het
Zpbp2	A	T	11: 98,448,418 (GRCm39)	H245L	probably damaging	Het

Other mutations in Mef2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Mef2c	APN	13	83,803,714 (GRCm39)	missense	probably damaging	1.00
IGL03131:Mef2c	APN	13	83,810,494 (GRCm39)	missense	probably damaging	1.00
IGL03186:Mef2c	APN	13	83,800,987 (GRCm39)	missense	probably benign	0.03
LCD18:Mef2c	UTSW	13	83,753,942 (GRCm39)	intron	probably benign
R0021:Mef2c	UTSW	13	83,804,359 (GRCm39)	missense	probably damaging	1.00
R0062:Mef2c	UTSW	13	83,800,992 (GRCm39)	missense	possibly damaging	0.65
R0480:Mef2c	UTSW	13	83,741,020 (GRCm39)	missense	probably damaging	1.00
R0755:Mef2c	UTSW	13	83,804,472 (GRCm39)	critical splice donor site	probably null
R1290:Mef2c	UTSW	13	83,810,478 (GRCm39)	missense	probably benign	0.19
R4085:Mef2c	UTSW	13	83,723,821 (GRCm39)	missense	probably damaging	0.98
R4734:Mef2c	UTSW	13	83,810,748 (GRCm39)	makesense	probably null
R5230:Mef2c	UTSW	13	83,801,026 (GRCm39)	missense	possibly damaging	0.89
R5385:Mef2c	UTSW	13	83,810,532 (GRCm39)	missense	probably benign	0.19
R6032:Mef2c	UTSW	13	83,810,478 (GRCm39)	missense	probably benign	0.19
R6032:Mef2c	UTSW	13	83,810,478 (GRCm39)	missense	probably benign	0.19
R6258:Mef2c	UTSW	13	83,801,057 (GRCm39)	missense	probably damaging	1.00
R6670:Mef2c	UTSW	13	83,810,716 (GRCm39)	missense	probably damaging	1.00
R6672:Mef2c	UTSW	13	83,800,975 (GRCm39)	missense	probably damaging	1.00
R6702:Mef2c	UTSW	13	83,773,525 (GRCm39)	missense	possibly damaging	0.70
R6703:Mef2c	UTSW	13	83,773,525 (GRCm39)	missense	possibly damaging	0.70
R6881:Mef2c	UTSW	13	83,741,061 (GRCm39)	missense	probably damaging	1.00
R6907:Mef2c	UTSW	13	83,802,730 (GRCm39)	missense	probably benign	0.32
R7503:Mef2c	UTSW	13	83,810,623 (GRCm39)	missense	possibly damaging	0.80
R8168:Mef2c	UTSW	13	83,804,469 (GRCm39)	missense	probably damaging	0.99
R8438:Mef2c	UTSW	13	83,804,336 (GRCm39)	missense	probably damaging	0.99
R9374:Mef2c	UTSW	13	83,810,461 (GRCm39)	missense	probably benign	0.43
R9552:Mef2c	UTSW	13	83,810,461 (GRCm39)	missense	probably benign	0.43
Z1177:Mef2c	UTSW	13	83,773,385 (GRCm39)	missense	probably benign	0.11

Posted On

2012-12-06