Incidental Mutation 'R0755:Mef2c'
ID 70460
Institutional Source Beutler Lab
Gene Symbol Mef2c
Ensembl Gene ENSMUSG00000005583
Gene Name myocyte enhancer factor 2C
Synonyms 5430401D19Rik, 9930028G15Rik
MMRRC Submission 038935-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0755 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 83652153-83815199 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 83804472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000005722] [ENSMUST00000163888] [ENSMUST00000185052] [ENSMUST00000197145] [ENSMUST00000197146] [ENSMUST00000197681] [ENSMUST00000197722] [ENSMUST00000198199] [ENSMUST00000198217] [ENSMUST00000199019] [ENSMUST00000199105] [ENSMUST00000199210] [ENSMUST00000199432] [ENSMUST00000199450] [ENSMUST00000199167] [ENSMUST00000198360] [ENSMUST00000197938]
AlphaFold Q8CFN5
Predicted Effect probably null
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 null
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 null
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 null
Transcript: ENSMUST00000197145
SMART Domains Protein: ENSMUSP00000142619
Gene: ENSMUSG00000005583

DomainStartEndE-ValueType
low complexity region 87 97 N/A INTRINSIC
Predicted Effect probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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
Predicted Effect probably null
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 null
Transcript: ENSMUST00000200138
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: ENSMUST00000198360
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 93.8%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730061H03Rik A T 14: 55,797,638 (GRCm39) probably benign Het
Acin1 A G 14: 54,889,292 (GRCm39) M1T probably null Het
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Aldh1a1 A G 19: 20,595,358 (GRCm39) M96V probably benign Het
Ankfn1 T A 11: 89,282,913 (GRCm39) M245L probably benign Het
Arhgap19 T C 19: 41,769,614 (GRCm39) K54E probably damaging Het
Atp1a2 T C 1: 172,116,948 (GRCm39) Q223R probably benign Het
Atp8a2 C T 14: 60,247,330 (GRCm39) V557I possibly damaging Het
AU041133 A T 10: 81,986,724 (GRCm39) K126* probably null Het
Axin1 T A 17: 26,401,480 (GRCm39) Y351N possibly damaging Het
Baiap2l1 T C 5: 144,221,367 (GRCm39) K176E probably damaging Het
Baz2a C T 10: 127,955,560 (GRCm39) T848I possibly damaging Het
Bbs2 A C 8: 94,808,708 (GRCm39) V333G probably benign Het
BC051019 G A 7: 109,315,302 (GRCm39) Q318* probably null Het
Bltp1 T C 3: 37,000,513 (GRCm39) S1231P probably damaging Het
Cdc37 C T 9: 21,051,160 (GRCm39) D362N probably damaging Het
Cep170 A T 1: 176,583,319 (GRCm39) V1020E probably damaging Het
Chrm4 T C 2: 91,758,747 (GRCm39) V385A probably benign Het
Cntrl G A 2: 35,035,151 (GRCm39) S373N probably damaging Het
Col23a1 G A 11: 51,467,706 (GRCm39) G19D probably damaging Het
Cyb5r4 G T 9: 86,911,625 (GRCm39) A100S probably damaging Het
Dctn1 C T 6: 83,166,059 (GRCm39) P115S probably damaging Het
Dhrs2 C T 14: 55,472,247 (GRCm39) T46M probably damaging Het
Disp2 T C 2: 118,620,243 (GRCm39) F325S probably benign Het
Dnah11 T G 12: 117,918,564 (GRCm39) T3456P possibly damaging Het
Dnah11 C A 12: 118,162,360 (GRCm39) V70F probably benign Het
Duoxa1 T A 2: 122,135,161 (GRCm39) T195S probably benign Het
Dync2i1 T C 12: 116,175,412 (GRCm39) I922V probably benign Het
Eif2ak1 T A 5: 143,821,742 (GRCm39) F353I possibly damaging Het
Esam A G 9: 37,447,998 (GRCm39) T211A probably damaging Het
Faf1 A G 4: 109,819,036 (GRCm39) N636S probably benign Het
Fbxo25 A G 8: 13,985,219 (GRCm39) Y305C probably benign Het
Fchsd1 C T 18: 38,101,803 (GRCm39) probably null Het
Fdxacb1 T A 9: 50,683,025 (GRCm39) D329E possibly damaging Het
Gvin2 A T 7: 105,545,892 (GRCm39) F2387I possibly damaging Het
Hbq1b A T 11: 32,237,104 (GRCm39) probably null Het
Hmcn2 T A 2: 31,343,172 (GRCm39) V4566E probably damaging Het
Igkv6-29 G A 6: 70,116,053 (GRCm39) T5I probably benign Het
Itfg1 A T 8: 86,452,834 (GRCm39) D511E possibly damaging Het
Jmjd1c C T 10: 66,932,378 (GRCm39) probably benign Het
Kat6b T A 14: 21,687,661 (GRCm39) M570K probably damaging Het
Kdm4d T A 9: 14,375,591 (GRCm39) K89M probably damaging Het
Krt19 A T 11: 100,032,965 (GRCm39) D194E possibly damaging Het
Lamc1 A T 1: 153,123,196 (GRCm39) Y665N possibly damaging Het
Lct A T 1: 128,221,872 (GRCm39) S1556T possibly damaging Het
Macf1 A G 4: 123,263,719 (GRCm39) L4924P probably damaging Het
Mff G A 1: 82,728,326 (GRCm39) probably null Het
Mycbp2 A T 14: 103,412,230 (GRCm39) L2581Q probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Nos3 T A 5: 24,572,295 (GRCm39) L123M probably damaging Het
Ntn5 C T 7: 45,335,952 (GRCm39) P128S probably benign Het
Nudt9 T C 5: 104,212,920 (GRCm39) V331A probably damaging Het
Or2y3 A T 17: 38,393,085 (GRCm39) Y261* probably null Het
Or7g34 T C 9: 19,478,415 (GRCm39) I88M possibly damaging Het
Pcdh7 A T 5: 57,877,664 (GRCm39) K406N possibly damaging Het
Pkdrej T A 15: 85,700,336 (GRCm39) I1867L probably benign Het
Plppr4 C T 3: 117,116,319 (GRCm39) G455R possibly damaging Het
Pramel11 A G 4: 143,624,299 (GRCm39) V66A probably damaging Het
Prkag2 G C 5: 25,152,629 (GRCm39) S158R probably benign Het
Ptprq T G 10: 107,418,400 (GRCm39) T1659P probably benign Het
Rasl12 A G 9: 65,318,241 (GRCm39) K202E probably benign Het
Rb1 A C 14: 73,434,653 (GRCm39) *922G probably null Het
Rsf1 C T 7: 97,229,174 (GRCm39) P22S probably damaging Het
Scn1a T G 2: 66,151,379 (GRCm39) T797P probably damaging Het
Sgsm2 A G 11: 74,756,323 (GRCm39) V342A probably damaging Het
Slc22a7 T G 17: 46,749,113 (GRCm39) H68P possibly damaging Het
Slc4a2 G A 5: 24,640,575 (GRCm39) A652T probably benign Het
Slc5a1 T A 5: 33,290,733 (GRCm39) L106M probably benign Het
Slco1c1 C T 6: 141,477,258 (GRCm39) P19S probably damaging Het
Snx1 A G 9: 66,005,738 (GRCm39) F127S probably damaging Het
Snx31 A T 15: 36,534,576 (GRCm39) I199N probably damaging Het
Snx33 T C 9: 56,832,741 (GRCm39) I443V possibly damaging Het
Sptbn1 A G 11: 30,089,016 (GRCm39) F749L probably damaging Het
Stoml3 T A 3: 53,405,559 (GRCm39) Y53* probably null Het
Stxbp2 A G 8: 3,692,019 (GRCm39) T554A probably benign Het
Tal1 T C 4: 114,925,573 (GRCm39) I214T probably damaging Het
Tas2r140 T A 6: 40,468,344 (GRCm39) I58N probably damaging Het
Thap1 A G 8: 26,648,501 (GRCm39) Y8C probably damaging Het
Thsd7a A T 6: 12,555,368 (GRCm39) L172Q probably damaging Het
Ube3c T A 5: 29,842,740 (GRCm39) D735E probably damaging Het
Unc80 G A 1: 66,544,082 (GRCm39) D402N probably damaging Het
Upf1 G T 8: 70,786,779 (GRCm39) R902S probably benign Het
Urb1 A G 16: 90,570,982 (GRCm39) Y1276H probably damaging Het
Urb1 A T 16: 90,576,026 (GRCm39) F843L probably benign Het
Vmn1r198 C T 13: 22,539,402 (GRCm39) T296I probably benign Het
Vmn1r33 A T 6: 66,588,892 (GRCm39) S221T probably damaging Het
Vmn2r103 A G 17: 19,993,830 (GRCm39) D69G probably benign Het
Vmn2r14 T G 5: 109,364,226 (GRCm39) L563F possibly damaging Het
Vmn2r60 G A 7: 41,844,869 (GRCm39) G744D probably damaging Het
Vstm4 T C 14: 32,614,601 (GRCm39) V181A probably damaging Het
Wdr72 G A 9: 74,052,376 (GRCm39) V136I probably benign Het
Zfp236 T A 18: 82,638,457 (GRCm39) N1388Y probably damaging Het
Zfp53 T A 17: 21,728,839 (GRCm39) F291I probably damaging Het
Zfp944 A T 17: 22,558,889 (GRCm39) H119Q possibly damaging 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
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
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'- AAGCACCTCTGTCTTACTCAGTGATCT -3'
(R):5'- GTTAGCACTCGCCCTTCACCAA -3'

Sequencing Primer
(F):5'- TGtctctctctctctctctctcC -3'
(R):5'- ACAAACACGGGAAGGAATATTTAAGC -3'
Posted On 2013-09-30