Mutagenetix > Incidental Mutation

Incidental Mutation 'R6907:Mef2c'

538836

Institutional Source

Beutler Lab

Gene Symbol

Mef2c

Ensembl Gene

ENSMUSG00000005583

Gene Name

myocyte enhancer factor 2C

Synonyms

5430401D19Rik, 9930028G15Rik

MMRRC Submission

044999-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6907 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83652153-83815199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83802730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 227 (D227G)

Ref Sequence

ENSEMBL: ENSMUSP00000142595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005722] [ENSMUST00000163888] [ENSMUST00000185052] [ENSMUST00000197145] [ENSMUST00000197146] [ENSMUST00000197681] [ENSMUST00000197722] [ENSMUST00000197938] [ENSMUST00000198199] [ENSMUST00000198217] [ENSMUST00000198360] [ENSMUST00000199019] [ENSMUST00000199105] [ENSMUST00000199167] [ENSMUST00000199210] [ENSMUST00000199432] [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
AA Change: D273G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000138826
Gene: ENSMUSG00000005583
AA Change: D273G

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 benign
Transcript: ENSMUST00000197145
AA Change: D38G

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142619
Gene: ENSMUSG00000005583
AA Change: D38G

Domain	Start	End	E-Value	Type
low complexity region	87	97	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197146
AA Change: D275G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000143227
Gene: ENSMUSG00000005583
AA Change: D275G

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 benign
Transcript: ENSMUST00000197681
AA Change: D275G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000143420
Gene: ENSMUSG00000005583
AA Change: D275G

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 benign
Transcript: ENSMUST00000197722
AA Change: D275G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000142456
Gene: ENSMUSG00000005583
AA Change: D275G

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 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 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: 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: ENSMUST00000198360

Predicted Effect

probably benign
Transcript: ENSMUST00000199019
AA Change: D275G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000143401
Gene: ENSMUSG00000005583
AA Change: D275G

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 benign
Transcript: ENSMUST00000199105
AA Change: D275G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000143212
Gene: ENSMUSG00000005583
AA Change: D275G

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 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: ENSMUST00000199210
AA Change: D227G

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142595
Gene: ENSMUSG00000005583
AA Change: D227G

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: ENSMUST00000199432

SMART Domains

Protein: ENSMUSP00000142714
Gene: ENSMUSG00000005583

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 benign
Transcript: ENSMUST00000199450

SMART Domains

Protein: ENSMUSP00000143315
Gene: ENSMUSG00000005583

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

Meta Mutation Damage Score

0.1155

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

97% (38/39)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	T	C	8: 112,698,793 (GRCm39)	I344V	probably benign	Het
Bmper	A	T	9: 23,310,868 (GRCm39)	Q434L	probably damaging	Het
Cabyr	A	G	18: 12,883,969 (GRCm39)	Y152C	probably benign	Het
Cactin	G	A	10: 81,159,278 (GRCm39)		probably null	Het
Cadps2	T	C	6: 23,599,505 (GRCm39)	D238G	probably damaging	Het
Card10	T	C	15: 78,671,671 (GRCm39)	T598A	possibly damaging	Het
Ctr9	C	T	7: 110,629,449 (GRCm39)	P25L	probably damaging	Het
Entpd5	T	C	12: 84,424,127 (GRCm39)	T409A	probably benign	Het
Exd1	A	G	2: 119,363,957 (GRCm39)	V137A	probably damaging	Het
Fcgbp	G	A	7: 27,784,443 (GRCm39)	G168R	probably damaging	Het
Ift88	A	G	14: 57,683,067 (GRCm39)	N248S	probably benign	Het
Kntc1	T	A	5: 123,939,888 (GRCm39)	Y1561N	probably damaging	Het
Myh2	C	T	11: 67,084,567 (GRCm39)	T1702M	probably damaging	Het
Myo1e	T	A	9: 70,234,437 (GRCm39)	N263K	probably benign	Het
Nfe2l1	A	G	11: 96,710,636 (GRCm39)	L373P	probably damaging	Het
Nob1	C	T	8: 108,142,860 (GRCm39)	V274M	possibly damaging	Het
Ntng2	A	G	2: 29,118,218 (GRCm39)	C77R	probably damaging	Het
Nynrin	T	G	14: 56,101,335 (GRCm39)	S335A	probably benign	Het
Or10ad1c	T	C	15: 98,085,649 (GRCm39)	N10D	probably damaging	Het
Or5p55	T	C	7: 107,567,459 (GRCm39)	L285P	probably damaging	Het
Pcdh7	T	A	5: 57,876,471 (GRCm39)	W9R	possibly damaging	Het
Pcdha1	A	G	18: 37,064,124 (GRCm39)	T263A	probably benign	Het
Per3	C	T	4: 151,128,015 (GRCm39)		probably null	Het
Pgbd5	A	G	8: 125,107,021 (GRCm39)	F265L	probably damaging	Het
Ppm1k	T	G	6: 57,487,755 (GRCm39)	E356A	probably benign	Het
Ptgfr	G	T	3: 151,540,938 (GRCm39)	T190K	possibly damaging	Het
Sec24a	A	G	11: 51,603,103 (GRCm39)	Y782H	probably damaging	Het
Setd1b	T	C	5: 123,301,295 (GRCm39)		probably benign	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 126,915,419 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,090,323 (GRCm39)	T253I	possibly damaging	Het
Tcf4	C	T	18: 69,785,484 (GRCm39)	T207M	probably damaging	Het
Thada	T	C	17: 84,700,897 (GRCm39)	N1203S	probably damaging	Het
Tln2	A	T	9: 67,304,917 (GRCm39)	S5T	probably damaging	Het
Traf4	C	T	11: 78,051,268 (GRCm39)	R296Q	probably benign	Het
Ttbk2	A	G	2: 120,655,751 (GRCm39)	S38P	probably benign	Het
Vrk1	G	T	12: 106,041,291 (GRCm39)	Q395H	possibly damaging	Het
Vwa3a	G	T	7: 120,391,804 (GRCm39)		probably benign	Het
Wdsub1	C	T	2: 59,692,028 (GRCm39)	V335I	possibly damaging	Het

Other mutations in Mef2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Mef2c	APN	13	83,773,499 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GTTTGAGACAAGGAACACCTCAC -3'
(R):5'- TTCCACAGGCTGTCAATGATC -3'

Sequencing Primer
(F):5'- TGAGACAAGGAACACCTCACTAAGAG -3'
(R):5'- TAGCACCTTTCACTGAGG -3'

Posted On

2018-11-06