Mutagenetix > Incidental Mutation

Incidental Mutation 'R6672:Mef2c'

527179

Institutional Source

Beutler Lab

Gene Symbol

Mef2c

Ensembl Gene

ENSMUSG00000005583

Gene Name

myocyte enhancer factor 2C

Synonyms

5430401D19Rik, 9930028G15Rik

MMRRC Submission

044792-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6672 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83652153-83815199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 83800975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 225 (V225G)

Ref Sequence

ENSEMBL: ENSMUSP00000005722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005722] [ENSMUST00000163888] [ENSMUST00000185052] [ENSMUST00000197145] [ENSMUST00000197146] [ENSMUST00000197681] [ENSMUST00000197722] [ENSMUST00000198199] [ENSMUST00000197938] [ENSMUST00000198217] [ENSMUST00000199019] [ENSMUST00000199105] [ENSMUST00000199167] [ENSMUST00000199210] [ENSMUST00000199432] [ENSMUST00000199450] [ENSMUST00000198360]

AlphaFold

Q8CFN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000005722
AA Change: V225G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000005722
Gene: ENSMUSG00000005583
AA Change: V225G

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
AA Change: V245G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000132547
Gene: ENSMUSG00000005583
AA Change: V245G

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: V225G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000138826
Gene: ENSMUSG00000005583
AA Change: V225G

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

SMART Domains

Protein: ENSMUSP00000142619
Gene: ENSMUSG00000005583

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197146
AA Change: V227G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143227
Gene: ENSMUSG00000005583
AA Change: V227G

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

possibly damaging
Transcript: ENSMUST00000197681
AA Change: V227G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143420
Gene: ENSMUSG00000005583
AA Change: V227G

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: V227G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000142456
Gene: ENSMUSG00000005583
AA Change: V227G

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: ENSMUST00000198199
AA Change: V225G

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143742
Gene: ENSMUSG00000005583
AA Change: V225G

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
AA Change: V225G

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

SMART Domains

Protein: ENSMUSP00000143187
Gene: ENSMUSG00000005583
AA Change: V225G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198217
AA Change: V179G

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142487
Gene: ENSMUSG00000005583
AA Change: V179G

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

possibly damaging
Transcript: ENSMUST00000199019
AA Change: V227G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143401
Gene: ENSMUSG00000005583
AA Change: V227G

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

possibly damaging
Transcript: ENSMUST00000199105
AA Change: V227G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143212
Gene: ENSMUSG00000005583
AA Change: V227G

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
AA Change: V225G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000142884
Gene: ENSMUSG00000005583
AA Change: V225G

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: V179G

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

SMART Domains

Protein: ENSMUSP00000142595
Gene: ENSMUSG00000005583
AA Change: V179G

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
AA Change: V227G

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

SMART Domains

Protein: ENSMUSP00000142714
Gene: ENSMUSG00000005583
AA Change: V227G

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

possibly damaging
Transcript: ENSMUST00000199450
AA Change: V227G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143315
Gene: ENSMUSG00000005583
AA Change: V227G

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

unknown
Transcript: ENSMUST00000200138
AA Change: V94G

Predicted Effect

probably benign
Transcript: ENSMUST00000198360

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

100% (31/31)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	C	T	7: 26,903,489 (GRCm39)		probably benign	Het
Adam24	A	G	8: 41,134,572 (GRCm39)	E680G	probably benign	Het
Adam7	T	A	14: 68,742,151 (GRCm39)		probably null	Het
Arid2	C	T	15: 96,260,226 (GRCm39)	T351I	probably benign	Het
Asz1	T	A	6: 18,075,817 (GRCm39)	E252V	possibly damaging	Het
Chrm5	C	T	2: 112,310,141 (GRCm39)	C325Y	probably benign	Het
Cimap1a	A	G	7: 140,428,340 (GRCm39)	S25G	probably benign	Het
Cyp2c65	A	G	19: 39,076,118 (GRCm39)	R357G	probably damaging	Het
Dhx36	A	G	3: 62,402,957 (GRCm39)	V265A	probably damaging	Het
Dhx36	T	A	3: 62,408,300 (GRCm39)	E179D	probably benign	Het
Dip2c	G	A	13: 9,617,866 (GRCm39)		probably null	Het
Dock10	A	T	1: 80,490,248 (GRCm39)	M1958K	probably benign	Het
Dpf1	T	C	7: 29,015,693 (GRCm39)	C357R	probably damaging	Het
Dync1h1	C	T	12: 110,624,568 (GRCm39)	R3703C	probably damaging	Het
Eef1g	A	G	19: 8,944,411 (GRCm39)		probably null	Het
Gnl2	T	C	4: 124,942,186 (GRCm39)	V397A	probably damaging	Het
Gramd2b	A	G	18: 56,565,408 (GRCm39)	E21G	possibly damaging	Het
Grik3	C	A	4: 125,517,309 (GRCm39)	Q51K	probably benign	Het
Hectd2	G	T	19: 36,564,780 (GRCm39)	Q20H	probably damaging	Het
Krtap5-1	A	G	7: 141,850,233 (GRCm39)	C192R	unknown	Het
Lrpap1	A	T	5: 35,256,577 (GRCm39)	M135K	probably benign	Het
Lrrc9	G	A	12: 72,520,710 (GRCm39)	R664H	possibly damaging	Het
Nlrp9b	T	C	7: 19,753,263 (GRCm39)	L56P	probably damaging	Het
Nup133	T	C	8: 124,643,020 (GRCm39)		probably null	Het
Or12j4	G	A	7: 140,046,648 (GRCm39)	C178Y	probably damaging	Het
Or5ak23	T	A	2: 85,244,948 (GRCm39)	I92L	possibly damaging	Het
Ppp1r3d	T	C	2: 178,055,552 (GRCm39)	E150G	possibly damaging	Het
Smpd1	A	G	7: 105,204,480 (GRCm39)	M120V	probably benign	Het
Zbtb46	A	G	2: 181,053,629 (GRCm39)	L361P	probably benign	Het
Zfp605	A	G	5: 110,275,863 (GRCm39)	H327R	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
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

Predicted Primers

PCR Primer
(F):5'- ATCAGTCAGCCTTCATGTGTTG -3'
(R):5'- CGTCTGGGATGTCCTAAGAAATTCC -3'

Sequencing Primer
(F):5'- GATTTGTATGACTCACAGCTAGGC -3'
(R):5'- ACTGATGGCATCGTGTTC -3'

Posted On

2018-07-23