Incidental Mutation 'LCD18:Mef2c'
ID 478220
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 # LCD18 (G1)
Quality Score 999
Status Validated
Chromosome 13
Chromosomal Location 83652153-83815199 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 83753942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005722] [ENSMUST00000163888] [ENSMUST00000185052] [ENSMUST00000195904] [ENSMUST00000195984] [ENSMUST00000196207] [ENSMUST00000196493] [ENSMUST00000197722] [ENSMUST00000199210] [ENSMUST00000197681] [ENSMUST00000198199] [ENSMUST00000199019] [ENSMUST00000197938] [ENSMUST00000199105] [ENSMUST00000198064] [ENSMUST00000198069] [ENSMUST00000198217] [ENSMUST00000199167] [ENSMUST00000196730] [ENSMUST00000197146] [ENSMUST00000199450] [ENSMUST00000200394] [ENSMUST00000199432]
AlphaFold Q8CFN5
Predicted Effect probably benign
Transcript: ENSMUST00000005722
SMART Domains Protein: ENSMUSP00000005722
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000143339
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
MADS 1 60 1.1e-39 SMART
Pfam:HJURP_C 90 156 5.8e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195984
SMART Domains Protein: ENSMUSP00000143611
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
MADS 1 60 3.29e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199262
Predicted Effect probably benign
Transcript: ENSMUST00000197722
SMART Domains Protein: ENSMUSP00000142456
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
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: ENSMUST00000199210
SMART Domains Protein: ENSMUSP00000142595
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
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: ENSMUST00000197681
SMART Domains Protein: ENSMUSP00000143420
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
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: ENSMUST00000198199
SMART Domains Protein: ENSMUSP00000143742
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
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: ENSMUST00000199019
SMART Domains Protein: ENSMUSP00000143401
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
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: ENSMUST00000197938
SMART Domains Protein: ENSMUSP00000143187
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
MADS 1 60 1.1e-39 SMART
Pfam:HJURP_C 90 154 6.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199105
SMART Domains Protein: ENSMUSP00000143212
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
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: ENSMUST00000198064
SMART Domains Protein: ENSMUSP00000142399
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
MADS 1 60 3.29e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198069
SMART Domains Protein: ENSMUSP00000143286
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
MADS 1 60 1.1e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198217
SMART Domains Protein: ENSMUSP00000142487
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
MADS 1 60 1.1e-39 SMART
Pfam:HJURP_C 90 154 6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196730
SMART Domains Protein: ENSMUSP00000143338
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
MADS 1 60 1.1e-39 SMART
Pfam:HJURP_C 90 154 4.9e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197146
SMART Domains Protein: ENSMUSP00000143227
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
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: ENSMUST00000199450
SMART Domains Protein: ENSMUSP00000143315
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
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: ENSMUST00000200394
SMART Domains Protein: ENSMUSP00000143598
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
MADS 1 60 1.1e-39 SMART
Pfam:HJURP_C 90 155 1.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199432
SMART Domains Protein: ENSMUSP00000142714
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 88% (169/191)
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330008L17Rik A G 8: 100,450,057 (GRCm39) noncoding transcript Het
Aff2 C A X: 68,791,141 (GRCm39) probably benign Het
Aldh1a1 C A 19: 20,604,010 (GRCm39) probably benign Het
Anxa7 C T 14: 20,519,479 (GRCm39) G113E probably damaging Het
Apba2 A T 7: 64,271,908 (GRCm39) probably benign Het
Apc2 G C 10: 80,135,808 (GRCm39) probably benign Het
App C G 16: 84,822,300 (GRCm39) probably benign Het
Asic2 C A 11: 80,876,570 (GRCm39) probably benign Het
Btk T C X: 133,479,574 (GRCm39) probably benign Het
Car12 C A 9: 66,668,958 (GRCm39) probably benign Het
Ccdc121 GAGAAG GAG 5: 31,644,717 (GRCm39) probably benign Het
Ccdc191 G A 16: 43,742,164 (GRCm39) probably benign Het
Ccdc34 N 2: 110,016,318 (GRCm38) probably benign Het
Cd164 G T 10: 41,397,922 (GRCm39) A59S probably benign Het
Cd22 C T 7: 30,577,507 (GRCm39) R2H possibly damaging Het
Cdv3 C A 9: 103,242,553 (GRCm39) probably benign Het
Cdv3 A T 9: 103,242,542 (GRCm39) probably benign Het
Celf2 N 2: 6,779,076 (GRCm38) probably benign Het
Cfap299 G A 5: 98,855,367 (GRCm39) probably benign Het
Clec18a C A 8: 111,802,768 (GRCm39) probably benign Het
Cnpy3 GGATGGAT GGATAGATAGATAGATAGATGGAT 17: 47,048,462 (GRCm39) probably benign Het
Cntn4 A G 6: 106,530,901 (GRCm39) probably benign Het
Cntnap5c G C 17: 58,469,155 (GRCm39) probably benign Het
Col2a1 C A 15: 97,886,862 (GRCm39) probably null Het
Cpne3 G T 4: 19,563,382 (GRCm39) probably benign Het
Cracd GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG 5: 76,806,589 (GRCm39) probably benign Het
Dab1 T G 4: 103,903,769 (GRCm39) probably benign Het
Dapp1 G A 3: 137,645,161 (GRCm39) probably benign Het
Dcc G A 18: 72,430,518 (GRCm39) probably benign Het
Dcun1d1 GAAAAAAAAA GAAAAAAAAAA 3: 35,992,154 (GRCm39) probably benign Het
Dennd1b G A 1: 139,042,502 (GRCm39) probably benign Het
Dhdds TAA TA 4: 133,697,674 (GRCm39) probably benign Het
Dnah12 G T 14: 26,571,342 (GRCm39) G2817V probably damaging Het
Dnm3 CATATATATATATATATATATATA CATATATATATATATATATATA 1: 162,234,130 (GRCm39) probably benign Het
Dock10 N 1: 80,716,623 (GRCm38) probably benign Het
Dusp10 G T 1: 183,769,253 (GRCm39) C73F probably damaging Het
Fgf20 A C 8: 40,745,359 (GRCm39) probably benign Het
Ftsj3 G T 11: 106,140,885 (GRCm39) probably benign Het
Gls T G 1: 52,222,526 (GRCm39) probably benign Het
Gm12130 T C 11: 38,397,750 (GRCm39) noncoding transcript Het
Gm14936 G A X: 111,908,447 (GRCm39) noncoding transcript Het
Gm16630 C T 6: 48,118,203 (GRCm39) noncoding transcript Het
Gm22194 AGTGTGTGTGTGTGTGTGTGTGTGTGTGTG AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG 10: 11,816,707 (GRCm39) noncoding transcript Het
Gm26917 C G 17: 40,154,862 (GRCm39) noncoding transcript Het
Gm35048 GACACACACACACACACACACACACACACACACACACAC GACACACACACACACACACACACACACACACACACAC 1: 90,449,248 (GRCm39) noncoding transcript Het
Gm37311 G A 16: 77,415,169 (GRCm39) noncoding transcript Het
Gm37928 AACACACACACACACACACACACACACACACACA AACACACACACACACACACACACACACACACACACA 3: 118,328,206 (GRCm39) noncoding transcript Het
Gm4302 T C 10: 100,177,306 (GRCm39) W197R probably benign Het
H2-Q4 G A 17: 35,599,381 (GRCm39) D155N probably damaging Het
H2-T23 T C 17: 36,342,108 (GRCm39) probably benign Het
Hgs CTTTTTTT CTTTTTT 11: 120,360,404 (GRCm39) probably benign Het
Ighv5-9 C T 12: 113,625,497 (GRCm39) S82N probably benign Het
Il1rap C A 16: 26,450,343 (GRCm39) probably benign Het
Inhbc N 10: 127,367,140 (GRCm38) probably benign Het
Inpp4b C T 8: 82,419,639 (GRCm39) probably benign Het
Kars1 N 8: 111,993,708 (GRCm38) probably benign Het
Kcng4 G T 8: 120,360,258 (GRCm39) Y39* probably null Het
Kcnh7 A G 2: 62,880,143 (GRCm39) probably benign Het
Klhl1 G C 14: 96,555,166 (GRCm39) probably benign Het
Lrch1 C T 14: 75,142,461 (GRCm39) probably benign Het
Lrp1b G C 2: 42,127,574 (GRCm39) probably benign Het
Lsm8 G A 6: 18,844,315 (GRCm39) probably benign Het
Lsm8 G A 6: 18,854,320 (GRCm39) probably benign Het
Magi2 T C 5: 20,159,509 (GRCm39) probably benign Het
Matcap2 N 9: 22,442,083 (GRCm38) probably benign Het
Mei4 A G 9: 82,069,012 (GRCm39) probably benign Het
Mid1 T A X: 168,788,560 (GRCm39) probably benign Het
Mndal G C 1: 173,707,784 (GRCm39) probably benign Het
Mpped2 C A 2: 106,551,773 (GRCm39) probably benign Het
Mtarc2 TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA 1: 184,554,985 (GRCm39) probably benign Het
Mtf1 A G 4: 124,723,109 (GRCm39) probably benign Het
Mxd1 T C 6: 86,644,388 (GRCm39) probably benign Het
Nbea G T 3: 55,608,948 (GRCm39) probably benign Het
Ncor1 N 11: 62,419,782 (GRCm38) probably benign Het
Nox4 A G 7: 86,892,275 (GRCm39) probably benign Het
Ocln C T 13: 100,657,075 (GRCm39) probably benign Het
Ofcc1 G A 13: 40,246,443 (GRCm39) probably benign Het
Or5af2 T A 11: 58,708,266 (GRCm39) V144D possibly damaging Het
Paics N 5: 76,956,744 (GRCm38) probably null Het
Paqr8 G T 1: 20,984,882 (GRCm39) probably benign Het
Pate9 T C 9: 36,444,849 (GRCm39) probably benign Het
Pdss1 C T 2: 22,790,980 (GRCm39) probably benign Het
Piezo1 G A 8: 123,222,308 (GRCm39) R503W probably damaging Het
Pkhd1 G A 1: 20,681,638 (GRCm39) probably benign Het
Ppp1r3f C A X: 7,426,575 (GRCm39) G562V probably damaging Het
Prr16 C T 18: 51,333,396 (GRCm39) probably benign Het
Prss38 T G 11: 59,266,467 (GRCm39) probably benign Het
Prxl2c G A 13: 64,435,099 (GRCm39) probably benign Het
Ptprk T C 10: 28,450,983 (GRCm39) probably benign Het
Pum1 N 4: 130,730,549 (GRCm38) probably benign Het
Rabgef1 N 5: 130,187,586 (GRCm38) probably null Het
Rgs16 G A 1: 153,619,976 (GRCm39) probably benign Het
Riok3 G T 18: 12,263,039 (GRCm39) probably benign Het
Rn18s-rs5 T C 17: 40,159,446 (GRCm39) noncoding transcript Het
Robo2 N 16: 74,055,954 (GRCm38) probably benign Het
Rps6ka3 A G X: 158,062,211 (GRCm39) probably benign Het
Rptn T A 3: 93,304,848 (GRCm39) L727Q probably benign Het
Slc25a46 C A 18: 31,730,366 (GRCm39) probably benign Het
Spata31f1e T C 4: 42,792,885 (GRCm39) T416A probably benign Het
Spsb1 C T 4: 150,036,943 (GRCm39) probably benign Het
Tbc1d19 A C 5: 53,974,051 (GRCm39) probably benign Het
Trav7-4 C T 14: 53,698,975 (GRCm39) L41F probably benign Het
Trip12 N 1: 84,754,482 (GRCm38) probably benign Het
Ttc13 G A 8: 125,402,605 (GRCm39) probably benign Het
Ttll6 C T 11: 96,046,084 (GRCm39) probably benign Het
Unc5b C G 10: 60,621,950 (GRCm39) probably benign Het
Vmn2r87 C T 10: 130,314,583 (GRCm39) M334I probably benign Het
Vps13b G T 15: 35,847,103 (GRCm39) A2629S probably damaging Het
Wars2 N 3: 99,214,774 (GRCm38) probably null Het
Zdhhc3 AACACACACACACACACACACACACACACACAC AACACACACACACACACACACACACACACACACAC 9: 122,912,087 (GRCm39) probably benign Het
Zfp26 C A 9: 20,349,842 (GRCm39) A241S probably benign Het
Zfp442 C T 2: 150,261,768 (GRCm39) probably benign Het
Zfp808 C T 13: 62,314,465 (GRCm39) probably benign Het
Other mutations in Mef2c
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TGTTAAACCAGAAAGAGCTGACAAC -3'
(R):5'- ATCAGCGATCATGTTGTATACACC -3'

Sequencing Primer
(F):5'- CAGAAAGAGCTGACAACAAATTTTTG -3'
(R):5'- CCTAGTGTTGCTGAGTTCTGTAC -3'
Posted On 2017-05-26