Mutagenetix > Incidental Mutation

Incidental Mutation 'R6881:Mef2c'

536680

Institutional Source

Beutler Lab

Gene Symbol

Mef2c

Ensembl Gene

ENSMUSG00000005583

Gene Name

myocyte enhancer factor 2C

Synonyms

5430401D19Rik, 9930028G15Rik

MMRRC Submission

045030-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6881 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83652153-83815199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 83741061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 73 (N73K)

Ref Sequence

ENSEMBL: ENSMUSP00000142456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005722] [ENSMUST00000163888] [ENSMUST00000185052] [ENSMUST00000195904] [ENSMUST00000195984] [ENSMUST00000196207] [ENSMUST00000196493] [ENSMUST00000198199] [ENSMUST00000196730] [ENSMUST00000197146] [ENSMUST00000197681] [ENSMUST00000197722] [ENSMUST00000197938] [ENSMUST00000198064] [ENSMUST00000198069] [ENSMUST00000198217] [ENSMUST00000198916] [ENSMUST00000199019] [ENSMUST00000199105] [ENSMUST00000199167] [ENSMUST00000199210] [ENSMUST00000199432] [ENSMUST00000199450] [ENSMUST00000200123] [ENSMUST00000200394]

AlphaFold

Q8CFN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000005722
AA Change: N73K

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

SMART Domains

Protein: ENSMUSP00000005722
Gene: ENSMUSG00000005583
AA Change: N73K

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 damaging
Transcript: ENSMUST00000163888
AA Change: N73K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132547
Gene: ENSMUSG00000005583
AA Change: N73K

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 damaging
Transcript: ENSMUST00000185052
AA Change: N73K

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

SMART Domains

Protein: ENSMUSP00000138826
Gene: ENSMUSG00000005583
AA Change: N73K

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 damaging
Transcript: ENSMUST00000195904
AA Change: N73K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143339
Gene: ENSMUSG00000005583
AA Change: N73K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000195984
AA Change: N73K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143611
Gene: ENSMUSG00000005583
AA Change: N73K

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 damaging
Transcript: ENSMUST00000196207
AA Change: N73K

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

SMART Domains

Protein: ENSMUSP00000143221
Gene: ENSMUSG00000005583
AA Change: N73K

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 damaging
Transcript: ENSMUST00000196493
AA Change: N73K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142897
Gene: ENSMUSG00000005583
AA Change: N73K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000198199
AA Change: N73K

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

SMART Domains

Protein: ENSMUSP00000143742
Gene: ENSMUSG00000005583
AA Change: N73K

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 damaging
Transcript: ENSMUST00000196730
AA Change: N73K

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

SMART Domains

Protein: ENSMUSP00000143338
Gene: ENSMUSG00000005583
AA Change: N73K

Domain	Start	End	E-Value	Type
MADS	1	60	1.1e-39	SMART
Pfam:HJURP_C	90	154	4.9e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197146
AA Change: N73K

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143227
Gene: ENSMUSG00000005583
AA Change: N73K

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: N73K

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143420
Gene: ENSMUSG00000005583
AA Change: N73K

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 damaging
Transcript: ENSMUST00000197722
AA Change: N73K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142456
Gene: ENSMUSG00000005583
AA Change: N73K

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 damaging
Transcript: ENSMUST00000197938
AA Change: N73K

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

SMART Domains

Protein: ENSMUSP00000143187
Gene: ENSMUSG00000005583
AA Change: N73K

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 damaging
Transcript: ENSMUST00000198064
AA Change: N73K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142399
Gene: ENSMUSG00000005583
AA Change: N73K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000198069
AA Change: N73K

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

SMART Domains

Protein: ENSMUSP00000143286
Gene: ENSMUSG00000005583
AA Change: N73K

Domain	Start	End	E-Value	Type
MADS	1	60	1.1e-39	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198217
AA Change: N73K

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142487
Gene: ENSMUSG00000005583
AA Change: N73K

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: ENSMUST00000198916

Predicted Effect

probably damaging
Transcript: ENSMUST00000199019
AA Change: N73K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143401
Gene: ENSMUSG00000005583
AA Change: N73K

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 damaging
Transcript: ENSMUST00000199105
AA Change: N73K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143212
Gene: ENSMUSG00000005583
AA Change: N73K

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 damaging
Transcript: ENSMUST00000199167
AA Change: N73K

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

SMART Domains

Protein: ENSMUSP00000142884
Gene: ENSMUSG00000005583
AA Change: N73K

Domain	Start	End	E-Value	Type
MADS	1	60	1.1e-39	SMART
Pfam:HJURP_C	90	154	6e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199210
AA Change: N73K

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142595
Gene: ENSMUSG00000005583
AA Change: N73K

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 damaging
Transcript: ENSMUST00000199432
AA Change: N73K

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142714
Gene: ENSMUSG00000005583
AA Change: N73K

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 damaging
Transcript: ENSMUST00000199450
AA Change: N73K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143315
Gene: ENSMUSG00000005583
AA Change: N73K

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: ENSMUST00000200123

Predicted Effect

probably damaging
Transcript: ENSMUST00000200394
AA Change: N73K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143598
Gene: ENSMUSG00000005583
AA Change: N73K

Domain	Start	End	E-Value	Type
MADS	1	60	1.1e-39	SMART
Pfam:HJURP_C	90	155	1.6e-15	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (53/54)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	C	9: 15,202,061 (GRCm39)	C187G	possibly damaging	Het
Abhd16a	C	T	17: 35,315,577 (GRCm39)	T208I	probably benign	Het
Ahcyl1	A	T	3: 107,575,425 (GRCm39)	H425Q	probably damaging	Het
Ankrd22	T	A	19: 34,126,782 (GRCm39)	N16I	probably damaging	Het
Cc2d2b	A	G	19: 40,813,483 (GRCm39)	E1321G	probably damaging	Het
Ccdc7b	A	G	8: 129,799,028 (GRCm39)	E35G	probably damaging	Het
Chsy3	A	G	18: 59,312,480 (GRCm39)	I318V	probably damaging	Het
Clrn2	G	A	5: 45,611,164 (GRCm39)	W4*	probably null	Het
Cmip	T	C	8: 118,163,334 (GRCm39)	I355T	possibly damaging	Het
Cmya5	C	T	13: 93,226,800 (GRCm39)	V2763M	probably damaging	Het
Cnnm2	T	C	19: 46,865,658 (GRCm39)	S749P	probably damaging	Het
Cyp1a1	G	T	9: 57,608,002 (GRCm39)	R210L	possibly damaging	Het
Dmxl1	G	A	18: 50,068,372 (GRCm39)	S2715N	probably benign	Het
Dync1h1	T	C	12: 110,590,995 (GRCm39)	L1021P	probably damaging	Het
Ecm2	C	T	13: 49,683,818 (GRCm39)	Q599*	probably null	Het
Galnt11	G	T	5: 25,455,097 (GRCm39)	K144N	possibly damaging	Het
Gm45861	A	G	8: 28,025,279 (GRCm39)		probably null	Het
Kcnk18	T	A	19: 59,208,390 (GRCm39)	D75E	probably benign	Het
Kcnk2	C	T	1: 188,942,187 (GRCm39)	V346M	probably benign	Het
Klhl33	T	A	14: 51,128,929 (GRCm39)	M767L	probably benign	Het
Knl1	T	C	2: 118,925,665 (GRCm39)	I1898T	possibly damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lamp3	T	C	16: 19,518,368 (GRCm39)	T290A	probably benign	Het
Larp1	T	A	11: 57,940,849 (GRCm39)	D658E	probably damaging	Het
Macf1	T	A	4: 123,326,246 (GRCm39)	I3521F	probably damaging	Het
Med12l	T	C	3: 59,174,586 (GRCm39)	S1835P	probably benign	Het
Mtmr3	T	C	11: 4,439,725 (GRCm39)	S572G	probably benign	Het
Neto2	A	T	8: 86,367,185 (GRCm39)	S520T	probably damaging	Het
Or10ak16	A	G	4: 118,750,304 (GRCm39)	N8S	probably damaging	Het
Or1o4	A	G	17: 37,591,200 (GRCm39)	L37S	probably benign	Het
Or4c110	A	T	2: 88,832,281 (GRCm39)	M117K	probably damaging	Het
P3h2	G	A	16: 25,811,495 (GRCm39)	R243C	probably damaging	Het
Pld1	T	C	3: 28,132,563 (GRCm39)	S584P	possibly damaging	Het
Prkcz	T	C	4: 155,353,513 (GRCm39)	N278S	possibly damaging	Het
Radil	A	G	5: 142,472,672 (GRCm39)	S913P	probably benign	Het
Retreg2	A	C	1: 75,123,083 (GRCm39)	Q337P	probably damaging	Het
Sh3gl3	A	G	7: 81,956,178 (GRCm39)	E305G	possibly damaging	Het
Shank1	G	T	7: 44,001,217 (GRCm39)	D979Y	unknown	Het
Slc35a5	A	T	16: 44,964,443 (GRCm39)	N263K	possibly damaging	Het
Slc4a7	A	T	14: 14,737,452 (GRCm38)	M127L	probably benign	Het
Slc8a2	G	A	7: 15,891,282 (GRCm39)	G774E	probably damaging	Het
Smim45	C	A	15: 82,143,786 (GRCm39)	H3N	possibly damaging	Het
Snap91	A	G	9: 86,655,646 (GRCm39)	S847P	possibly damaging	Het
Stoml1	T	C	9: 58,168,177 (GRCm39)	L296P	probably damaging	Het
Tap1	G	T	17: 34,407,008 (GRCm39)	G52V	probably damaging	Het
Tent4b	T	C	8: 88,977,416 (GRCm39)	V363A	possibly damaging	Het
Tnfrsf11b	T	C	15: 54,117,539 (GRCm39)	R239G	probably benign	Het
Ttn	T	C	2: 76,536,846 (GRCm39)	Y34993C	probably damaging	Het
Uchl1	T	C	5: 66,841,065 (GRCm39)	F165L	probably damaging	Het
Xrcc1	C	T	7: 24,246,776 (GRCm39)	Q15*	probably null	Het
Zkscan7	C	G	9: 122,717,766 (GRCm39)	Q54E	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
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'- TCCAGGTGACTTTTACGAAGAGG -3'
(R):5'- ATCGATCTGACCCTGGACCTTG -3'

Sequencing Primer
(F):5'- GTGACTTTTACGAAGAGGAAATTTGG -3'
(R):5'- GGACCTTGATTTCTAGATCCCATATG -3'

Posted On

2018-10-18