Mutagenetix > Incidental Mutation

Incidental Mutation 'R6702:Mef2c'

528831

Institutional Source

Beutler Lab

Gene Symbol

Mef2c

Ensembl Gene

ENSMUSG00000005583

Gene Name

myocyte enhancer factor 2C

Synonyms

5430401D19Rik, 9930028G15Rik

MMRRC Submission

044820-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83652153-83815199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83773525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 134 (C134S)

Ref Sequence

ENSEMBL: ENSMUSP00000143611 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000195904
AA Change: C134S

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

SMART Domains

Protein: ENSMUSP00000143339
Gene: ENSMUSG00000005583
AA Change: C134S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195984
AA Change: C134S

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143611
Gene: ENSMUSG00000005583
AA Change: C134S

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 benign
Transcript: ENSMUST00000196493

SMART Domains

Protein: ENSMUSP00000142897
Gene: ENSMUSG00000005583

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197146
AA Change: C134S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000143227
Gene: ENSMUSG00000005583
AA Change: C134S

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: C134S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000143420
Gene: ENSMUSG00000005583
AA Change: C134S

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: C134S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000142456
Gene: ENSMUSG00000005583
AA Change: C134S

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: ENSMUST00000199019
AA Change: C134S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000143401
Gene: ENSMUSG00000005583
AA Change: C134S

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: C134S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000143212
Gene: ENSMUSG00000005583
AA Change: C134S

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: 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: 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: 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: 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: 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

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

noncoding transcript
Transcript: ENSMUST00000199262

Predicted Effect

probably benign
Transcript: ENSMUST00000198064

SMART Domains

Protein: ENSMUSP00000142399
Gene: ENSMUSG00000005583

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199450
AA Change: C134S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000143315
Gene: ENSMUSG00000005583
AA Change: C134S

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: ENSMUST00000199432
AA Change: C134S

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

SMART Domains

Protein: ENSMUSP00000142714
Gene: ENSMUSG00000005583
AA Change: C134S

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: ENSMUST00000200394
AA Change: C134S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000143598
Gene: ENSMUSG00000005583
AA Change: C134S

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 benign
Transcript: ENSMUST00000200138

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,497,558 (GRCm39)	Y66*	probably null	Het
Ak3	A	G	19: 29,003,627 (GRCm39)	V183A	probably damaging	Het
Ano10	G	T	9: 122,088,630 (GRCm39)	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,648,058 (GRCm39)		probably null	Het
Brpf3	A	C	17: 29,029,633 (GRCm39)	N531T	probably benign	Het
Casp2	T	C	6: 42,244,985 (GRCm39)	V128A	probably benign	Het
Cdcp2	T	C	4: 106,964,283 (GRCm39)	C378R	probably benign	Het
Cfap54	T	A	10: 92,704,596 (GRCm39)	D2828V	unknown	Het
Col6a3	T	C	1: 90,707,161 (GRCm39)	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,100,608 (GRCm39)	T93A	probably benign	Het
Ddx54	T	A	5: 120,764,568 (GRCm39)	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,376,571 (GRCm39)	S56P	probably damaging	Het
Dna2	T	A	10: 62,809,073 (GRCm39)	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,882,869 (GRCm39)	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,146,256 (GRCm39)	F296L	probably benign	Het
Fat1	A	G	8: 45,406,083 (GRCm39)	T945A	probably benign	Het
Herpud1	T	C	8: 95,119,154 (GRCm39)		probably null	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Kif26b	C	G	1: 178,744,852 (GRCm39)	S1649R	possibly damaging	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,285,031 (GRCm39)	S290P	probably benign	Het
Map4k1	T	G	7: 28,701,821 (GRCm39)	S803A	possibly damaging	Het
Myo15a	A	G	11: 60,383,818 (GRCm39)	I1622V	probably benign	Het
Nbea	A	G	3: 55,912,923 (GRCm39)	Y955H	probably benign	Het
Ndor1	A	G	2: 25,139,902 (GRCm39)	F142S	possibly damaging	Het
Nynrin	A	G	14: 56,101,935 (GRCm39)	T535A	possibly damaging	Het
Or4k15	A	G	14: 50,364,688 (GRCm39)	Y218C	probably damaging	Het
Or4k42	T	A	2: 111,320,454 (GRCm39)		probably null	Het
Or5ac23	C	T	16: 59,148,961 (GRCm39)	V304I	probably benign	Het
Or5d46	G	A	2: 88,170,586 (GRCm39)	V226I	probably benign	Het
Or8b51	A	T	9: 38,569,073 (GRCm39)	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,577,828 (GRCm39)	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,474,959 (GRCm39)	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Per2	C	T	1: 91,355,671 (GRCm39)	E696K	probably damaging	Het
Pld4	T	C	12: 112,731,485 (GRCm39)	S213P	probably damaging	Het
Prkg1	T	A	19: 30,970,484 (GRCm39)	H209L	probably benign	Het
Psg16	T	C	7: 16,824,321 (GRCm39)	L35P	probably damaging	Het
Pxn	C	T	5: 115,689,955 (GRCm39)	L160F	probably benign	Het
Rab3a	A	G	8: 71,209,095 (GRCm39)	D77G	probably damaging	Het
Resf1	T	A	6: 149,229,376 (GRCm39)	N807K	probably damaging	Het
Rgma	A	T	7: 73,067,068 (GRCm39)	T108S	probably damaging	Het
Rxrg	A	G	1: 167,441,374 (GRCm39)	S51G	probably benign	Het
S1pr3	A	T	13: 51,573,475 (GRCm39)	I219F	probably damaging	Het
Sec23b	A	T	2: 144,401,109 (GRCm39)		probably null	Het
Sfrp5	G	T	19: 42,190,266 (GRCm39)	T62K	probably benign	Het
Slco1a6	T	A	6: 142,048,826 (GRCm39)	Y318F	probably damaging	Het
Slit1	A	C	19: 41,603,309 (GRCm39)	S931A	possibly damaging	Het
Sorl1	A	T	9: 41,982,497 (GRCm39)	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,575,213 (GRCm39)	S209P	probably benign	Het
Supt6	C	A	11: 78,122,626 (GRCm39)	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,636,347 (GRCm39)	M234R	probably benign	Het
Tmem72	C	G	6: 116,675,310 (GRCm39)	V61L	probably benign	Het
Trpm5	C	A	7: 142,623,055 (GRCm39)		probably benign	Het
Ttn	T	G	2: 76,550,456 (GRCm39)	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210 (GRCm39)		probably benign	Het
Ubr3	A	T	2: 69,786,393 (GRCm39)	R836W	probably benign	Het
Umodl1	A	G	17: 31,205,273 (GRCm39)		probably null	Het
Ythdf1	A	G	2: 180,560,926 (GRCm39)		probably null	Het
Zfp780b	T	C	7: 27,671,066 (GRCm39)	T81A	possibly damaging	Het
Zfp811	T	C	17: 33,016,816 (GRCm39)	E407G	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TACAGCCTTTGTCTAGGTTTGAAC -3'
(R):5'- AGACCAGCCCTCTACCTTTG -3'

Sequencing Primer
(F):5'- TGTCTAGGTTTGAACTTTGCAC -3'
(R):5'- TTGTTCAATGCCTGCCAG -3'

Posted On

2018-07-24