Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03186:Mef2c'

412479

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 #

IGL03186

Quality Score

Status

Chromosome

Chromosomal Location

83652153-83815199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83800987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 229 (N229S)

Ref Sequence

ENSEMBL: ENSMUSP00000143187 (fasta)

Gene Model

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

AlphaFold

Q8CFN5

Predicted Effect

probably benign
Transcript: ENSMUST00000005722
AA Change: N229S

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

SMART Domains

Protein: ENSMUSP00000005722
Gene: ENSMUSG00000005583
AA Change: N229S

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: N249S

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

SMART Domains

Protein: ENSMUSP00000132547
Gene: ENSMUSG00000005583
AA Change: N249S

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: N229S

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

SMART Domains

Protein: ENSMUSP00000138826
Gene: ENSMUSG00000005583
AA Change: N229S

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

probably benign
Transcript: ENSMUST00000197146
AA Change: N231S

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

SMART Domains

Protein: ENSMUSP00000143227
Gene: ENSMUSG00000005583
AA Change: N231S

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: N231S

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

SMART Domains

Protein: ENSMUSP00000143420
Gene: ENSMUSG00000005583
AA Change: N231S

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: N231S

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

SMART Domains

Protein: ENSMUSP00000142456
Gene: ENSMUSG00000005583
AA Change: N231S

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: ENSMUST00000199450
AA Change: N231S

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

SMART Domains

Protein: ENSMUSP00000143315
Gene: ENSMUSG00000005583
AA Change: N231S

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: ENSMUST00000199105
AA Change: N231S

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

SMART Domains

Protein: ENSMUSP00000143212
Gene: ENSMUSG00000005583
AA Change: N231S

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: ENSMUST00000199432
AA Change: N231S

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

SMART Domains

Protein: ENSMUSP00000142714
Gene: ENSMUSG00000005583
AA Change: N231S

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: ENSMUST00000197938
AA Change: N229S

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

SMART Domains

Protein: ENSMUSP00000143187
Gene: ENSMUSG00000005583
AA Change: N229S

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: ENSMUST00000198217
AA Change: N183S

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

SMART Domains

Protein: ENSMUSP00000142487
Gene: ENSMUSG00000005583
AA Change: N183S

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: ENSMUST00000199210
AA Change: N183S

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

SMART Domains

Protein: ENSMUSP00000142595
Gene: ENSMUSG00000005583
AA Change: N183S

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: ENSMUST00000199019
AA Change: N231S

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

SMART Domains

Protein: ENSMUSP00000143401
Gene: ENSMUSG00000005583
AA Change: N231S

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: ENSMUST00000198199
AA Change: N229S

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

SMART Domains

Protein: ENSMUSP00000143742
Gene: ENSMUSG00000005583
AA Change: N229S

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

unknown
Transcript: ENSMUST00000200138
AA Change: N98S

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: ENSMUST00000198360

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,581,737 (GRCm39)	I4769T	possibly damaging	Het
Ankrd53	T	C	6: 83,740,695 (GRCm39)	I106T	probably benign	Het
Arsi	A	G	18: 61,050,545 (GRCm39)	D476G	probably damaging	Het
Atp2c1	T	C	9: 105,290,329 (GRCm39)	K760E	probably benign	Het
C030048H21Rik	A	G	2: 26,143,350 (GRCm39)		probably null	Het
Cep152	A	G	2: 125,405,895 (GRCm39)	S1546P	probably benign	Het
Cimap1c	T	G	9: 56,756,356 (GRCm39)	N220T	probably benign	Het
Clock	T	C	5: 76,390,929 (GRCm39)	H291R	probably damaging	Het
Fkbp4	T	C	6: 128,411,763 (GRCm39)	T109A	probably benign	Het
Igkv1-117	T	C	6: 68,098,783 (GRCm39)	Y111H	probably damaging	Het
Kif20b	A	T	19: 34,912,344 (GRCm39)	E250V	probably benign	Het
Ndufa9	A	G	6: 126,821,855 (GRCm39)	V36A	possibly damaging	Het
Neb	T	C	2: 52,100,671 (GRCm39)		probably benign	Het
Neb	G	A	2: 52,059,100 (GRCm39)	H213Y	probably damaging	Het
Neurl1a	T	A	19: 47,228,916 (GRCm39)	F152Y	probably damaging	Het
Nlrp14	G	T	7: 106,785,877 (GRCm39)	C651F	probably damaging	Het
Or4a2	T	A	2: 89,248,188 (GRCm39)	T190S	probably damaging	Het
Or5ac20	A	T	16: 59,104,266 (GRCm39)	V198E	probably damaging	Het
Or7g21	T	A	9: 19,033,200 (GRCm39)	D316E	probably benign	Het
Pex2	C	A	3: 5,626,777 (GRCm39)	A11S	probably benign	Het
Pitpna	C	A	11: 75,503,076 (GRCm39)	H137N	probably benign	Het
Pole	T	G	5: 110,447,786 (GRCm39)		probably null	Het
Rft1	T	A	14: 30,380,306 (GRCm39)	I35N	possibly damaging	Het
Serpina1e	T	C	12: 103,915,462 (GRCm39)	H248R	probably benign	Het
Sgsm1	C	T	5: 113,432,887 (GRCm39)	A254T	probably benign	Het
St3gal3	G	A	4: 117,797,251 (GRCm39)	P331S	possibly damaging	Het
Ttn	T	A	2: 76,602,106 (GRCm39)	K16773*	probably null	Het
Zfp687	T	C	3: 94,918,405 (GRCm39)	T456A	probably benign	Het
Zranb1	A	G	7: 132,551,932 (GRCm39)	I220M	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
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

2016-08-02