Mutagenetix > Incidental Mutation

Incidental Mutation 'R5230:Mef2c'

403733

Institutional Source

Beutler Lab

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 #

R5230 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83652153-83815199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83801026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 242 (M242K)

Ref Sequence

ENSEMBL: ENSMUSP00000005722 (fasta)

Gene Model

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

AlphaFold

Q8CFN5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005722
AA Change: M242K

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000005722
Gene: ENSMUSG00000005583
AA Change: M242K

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

possibly damaging
Transcript: ENSMUST00000163888
AA Change: M262K

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132547
Gene: ENSMUSG00000005583
AA Change: M262K

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

possibly damaging
Transcript: ENSMUST00000185052
AA Change: M242K

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138826
Gene: ENSMUSG00000005583
AA Change: M242K

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

possibly damaging
Transcript: ENSMUST00000197145
AA Change: M7K

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142619
Gene: ENSMUSG00000005583
AA Change: M7K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197146
AA Change: M244K

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143227
Gene: ENSMUSG00000005583
AA Change: M244K

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: M244K

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143420
Gene: ENSMUSG00000005583
AA Change: M244K

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: M244K

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142456
Gene: ENSMUSG00000005583
AA Change: M244K

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

possibly damaging
Transcript: ENSMUST00000197938
AA Change: M242K

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143187
Gene: ENSMUSG00000005583
AA Change: M242K

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: M196K

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142487
Gene: ENSMUSG00000005583
AA Change: M196K

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: M244K

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143401
Gene: ENSMUSG00000005583
AA Change: M244K

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: M244K

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143212
Gene: ENSMUSG00000005583
AA Change: M244K

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: ENSMUST00000199210
AA Change: M196K

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142595
Gene: ENSMUSG00000005583
AA Change: M196K

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: M244K

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142714
Gene: ENSMUSG00000005583
AA Change: M244K

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: M244K

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143315
Gene: ENSMUSG00000005583
AA Change: M244K

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

possibly damaging
Transcript: ENSMUST00000198199
AA Change: M242K

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143742
Gene: ENSMUSG00000005583
AA Change: M242K

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: M111K

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,651,820 (GRCm39)	N1296S	probably damaging	Het
Abca5	A	T	11: 110,210,686 (GRCm39)	D164E	probably benign	Het
Adamts5	T	C	16: 85,666,956 (GRCm39)	D512G	probably damaging	Het
Ankrd11	G	A	8: 123,617,216 (GRCm39)	T2191I	probably benign	Het
Anxa3	T	C	5: 96,986,171 (GRCm39)	F270S	possibly damaging	Het
Bard1	A	G	1: 71,092,770 (GRCm39)		probably null	Het
Ccdc142	T	C	6: 83,084,777 (GRCm39)	V591A	probably damaging	Het
Col6a3	C	T	1: 90,716,776 (GRCm39)	E1613K	unknown	Het
Dnah9	T	A	11: 65,975,492 (GRCm39)	H1519L	probably damaging	Het
Egf	T	C	3: 129,511,673 (GRCm39)	D498G	possibly damaging	Het
Enah	A	C	1: 181,763,235 (GRCm39)		probably benign	Het
Fat3	A	T	9: 15,901,856 (GRCm39)	N3056K	possibly damaging	Het
Gm4846	T	A	1: 166,317,748 (GRCm39)	N223Y	probably benign	Het
Gm8104	A	G	14: 42,958,975 (GRCm39)	N55S	probably damaging	Het
Gpatch8	A	G	11: 102,370,404 (GRCm39)	S1045P	probably damaging	Het
Haus4	A	G	14: 54,781,251 (GRCm39)	M275T	probably benign	Het
Ighe	T	A	12: 113,235,006 (GRCm39)	T385S	unknown	Het
Ipo9	G	A	1: 135,347,808 (GRCm39)	S78L	probably damaging	Het
Kif21b	G	A	1: 136,099,411 (GRCm39)	V1473M	probably damaging	Het
Lama1	T	A	17: 68,052,078 (GRCm39)	Y345*	probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Loxl3	A	G	6: 83,012,775 (GRCm39)	T105A	probably benign	Het
Map4k3	A	G	17: 80,922,599 (GRCm39)	S441P	probably benign	Het
Med12l	C	T	3: 59,153,209 (GRCm39)	T1078I	probably damaging	Het
Morc2b	A	G	17: 33,355,226 (GRCm39)	Y849H	probably benign	Het
Mroh2b	T	A	15: 4,971,004 (GRCm39)	V1003E	probably benign	Het
Myo15a	T	A	11: 60,393,674 (GRCm39)	M1135K	possibly damaging	Het
Nckap1l	A	T	15: 103,392,066 (GRCm39)	I834F	probably benign	Het
Nrg1	T	A	8: 32,308,507 (GRCm39)	Y503F	probably damaging	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or4f61	A	T	2: 111,922,734 (GRCm39)	I104N	probably benign	Het
Pcdhga2	T	C	18: 37,802,795 (GRCm39)	V213A	probably benign	Het
Pdzd2	A	T	15: 12,390,119 (GRCm39)	M826K	probably damaging	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Rnf38	T	C	4: 44,149,176 (GRCm39)	Q57R	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Serpina6	T	C	12: 103,618,157 (GRCm39)	T219A	probably benign	Het
Spata31d1c	T	A	13: 65,183,248 (GRCm39)	N263K	probably benign	Het
Spef2	T	G	15: 9,667,316 (GRCm39)	I791L	possibly damaging	Het
Sv2a	T	C	3: 96,092,776 (GRCm39)	C159R	probably damaging	Het
Tbc1d31	T	A	15: 57,824,315 (GRCm39)	L859Q	probably damaging	Het
Tecta	C	A	9: 42,306,239 (GRCm39)	R63L	probably damaging	Het
Tex52	A	G	6: 128,361,779 (GRCm39)	E252G	probably damaging	Het
Tnfsf13b	A	G	8: 10,081,608 (GRCm39)	I257V	possibly damaging	Het
Tpk1	A	G	6: 43,400,653 (GRCm39)	L172P	probably damaging	Het
Trim3	T	G	7: 105,268,720 (GRCm39)	N78T	possibly damaging	Het
Try5	A	G	6: 41,289,312 (GRCm39)	V88A	probably benign	Het
Vmn1r222	T	G	13: 23,417,172 (GRCm39)	M14L	probably benign	Het
Wdr90	A	T	17: 26,074,277 (GRCm39)	V678E	probably benign	Het
Zan	A	G	5: 137,452,340 (GRCm39)	L1543P	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- AAATCAGTCAGCCTTCATGTGTTG -3'
(R):5'- GTCTGGGATGTCCTAAGAAATTCC -3'

Sequencing Primer
(F):5'- GTATGACTCACAGCTAGGCGTATC -3'
(R):5'- GCATTACCACTGATGGCA -3'

Posted On

2016-07-22