Incidental Mutation 'R3618:Mef2a'
ID 268517
Institutional Source Beutler Lab
Gene Symbol Mef2a
Ensembl Gene ENSMUSG00000030557
Gene Name myocyte enhancer factor 2A
Synonyms A430079H05Rik
MMRRC Submission 040675-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3618 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 66880911-67022606 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 66918075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 111 (S111L)
Ref Sequence ENSEMBL: ENSMUSP00000116144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032776] [ENSMUST00000072460] [ENSMUST00000076325] [ENSMUST00000107476] [ENSMUST00000133074] [ENSMUST00000135493] [ENSMUST00000156690] [ENSMUST00000207715] [ENSMUST00000208512]
AlphaFold Q60929
Predicted Effect probably benign
Transcript: ENSMUST00000032776
SMART Domains Protein: ENSMUSP00000032776
Gene: ENSMUSG00000030557

DomainStartEndE-ValueType
MADS 1 60 6.15e-37 SMART
Pfam:HJURP_C 90 155 5.2e-30 PFAM
low complexity region 161 181 N/A INTRINSIC
low complexity region 255 265 N/A INTRINSIC
low complexity region 301 316 N/A INTRINSIC
low complexity region 412 431 N/A INTRINSIC
low complexity region 438 457 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072460
SMART Domains Protein: ENSMUSP00000138645
Gene: ENSMUSG00000030557

DomainStartEndE-ValueType
MADS 1 60 6.15e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000076325
SMART Domains Protein: ENSMUSP00000075664
Gene: ENSMUSG00000030557

DomainStartEndE-ValueType
MADS 1 60 6.15e-37 SMART
Pfam:HJURP_C 90 155 5.2e-30 PFAM
low complexity region 161 181 N/A INTRINSIC
low complexity region 255 265 N/A INTRINSIC
low complexity region 301 316 N/A INTRINSIC
low complexity region 412 431 N/A INTRINSIC
low complexity region 438 457 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107476
AA Change: S111L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103100
Gene: ENSMUSG00000030557
AA Change: S111L

DomainStartEndE-ValueType
MADS 1 60 6.15e-37 SMART
Pfam:HJURP_C 90 153 3.7e-8 PFAM
low complexity region 159 179 N/A INTRINSIC
low complexity region 253 263 N/A INTRINSIC
low complexity region 299 314 N/A INTRINSIC
low complexity region 410 429 N/A INTRINSIC
low complexity region 436 455 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133074
AA Change: S111L

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116144
Gene: ENSMUSG00000030557
AA Change: S111L

DomainStartEndE-ValueType
MADS 1 60 6.15e-37 SMART
Pfam:HJURP_C 90 153 8.7e-9 PFAM
low complexity region 159 179 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135493
AA Change: S111L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138566
Gene: ENSMUSG00000030557
AA Change: S111L

DomainStartEndE-ValueType
MADS 1 60 6.15e-37 SMART
Pfam:HJURP_C 90 153 3.7e-8 PFAM
low complexity region 159 179 N/A INTRINSIC
low complexity region 253 263 N/A INTRINSIC
low complexity region 288 294 N/A INTRINSIC
low complexity region 307 322 N/A INTRINSIC
low complexity region 418 437 N/A INTRINSIC
low complexity region 444 463 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156690
AA Change: S111L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117496
Gene: ENSMUSG00000030557
AA Change: S111L

DomainStartEndE-ValueType
MADS 1 60 6.15e-37 SMART
Pfam:HJURP_C 90 152 1.3e-8 PFAM
low complexity region 159 179 N/A INTRINSIC
low complexity region 253 263 N/A INTRINSIC
low complexity region 288 294 N/A INTRINSIC
low complexity region 307 322 N/A INTRINSIC
low complexity region 418 437 N/A INTRINSIC
low complexity region 444 463 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207486
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207632
Predicted Effect probably benign
Transcript: ENSMUST00000207715
Predicted Effect probably benign
Transcript: ENSMUST00000208512
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Inactivation of this gene results in cardiac sudden death. Mice dying in the early postnatal period exhibit ventricular dilation, while mice dying in adulthood show a reduced number of mitochondria in the heart. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,774,168 (GRCm39) E1119G probably damaging Het
Ahnak2 A G 12: 112,749,842 (GRCm39) I132T probably damaging Het
Arhgap29 G A 3: 121,782,176 (GRCm39) D63N possibly damaging Het
Bsn T A 9: 107,994,760 (GRCm39) probably null Het
Cfap161 A C 7: 83,429,390 (GRCm39) Y209* probably null Het
Drp2 A C X: 133,340,717 (GRCm39) D458A probably benign Het
Efcab6 T C 15: 83,834,270 (GRCm39) H446R probably benign Het
Enpep G C 3: 129,077,807 (GRCm39) S603R possibly damaging Het
F13a1 G A 13: 37,127,967 (GRCm39) T337I probably damaging Het
Fhod3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 18: 25,153,722 (GRCm39) probably benign Het
Hcfc1 A T X: 72,993,694 (GRCm39) V1157D probably benign Het
Inava A C 1: 136,142,110 (GRCm39) V663G probably benign Het
Ino80 T C 2: 119,277,353 (GRCm39) D374G probably null Het
Kif1a T C 1: 93,004,765 (GRCm39) E143G probably null Het
Larp1 A T 11: 57,948,172 (GRCm39) E990D probably benign Het
Larp7 C A 3: 127,330,614 (GRCm39) E568* probably null Het
Ltn1 A T 16: 87,217,787 (GRCm39) S298R probably damaging Het
Mcm10 A G 2: 5,001,913 (GRCm39) probably null Het
Mroh1 A G 15: 76,336,546 (GRCm39) T1590A possibly damaging Het
Ncoa6 A T 2: 155,249,709 (GRCm39) H1198Q possibly damaging Het
Ogg1 A G 6: 113,305,334 (GRCm39) E49G probably damaging Het
Palm3 T A 8: 84,755,973 (GRCm39) V495E probably benign Het
Pam A G 1: 97,762,157 (GRCm39) F809L probably damaging Het
Parp3 T C 9: 106,352,262 (GRCm39) E88G possibly damaging Het
Ptprs A G 17: 56,735,965 (GRCm39) I156T probably benign Het
Pus7l T A 15: 94,425,788 (GRCm39) I538F probably damaging Het
Rgs8 A G 1: 153,566,742 (GRCm39) T98A probably null Het
Ryr2 C T 13: 11,787,466 (GRCm39) probably null Het
Slc8a2 A G 7: 15,886,824 (GRCm39) N656D possibly damaging Het
Stard9 C T 2: 120,529,500 (GRCm39) T1919I possibly damaging Het
Tbcel T C 9: 42,372,591 (GRCm39) probably benign Het
Trpv3 A T 11: 73,186,281 (GRCm39) I691F probably damaging Het
Uba2 A G 7: 33,853,907 (GRCm39) probably null Het
Usp53 A C 3: 122,728,061 (GRCm39) S840R probably benign Het
Vmn2r100 A T 17: 19,743,692 (GRCm39) I452F probably benign Het
Zbtb48 A T 4: 152,110,484 (GRCm39) probably null Het
Zfp385b G A 2: 77,246,233 (GRCm39) P177S probably benign Het
Zfp42 T C 8: 43,748,938 (GRCm39) R188G possibly damaging Het
Other mutations in Mef2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01923:Mef2a APN 7 66,914,620 (GRCm39) missense probably damaging 0.98
IGL02112:Mef2a APN 7 66,914,620 (GRCm39) missense probably damaging 0.98
R0597_Mef2a_122 UTSW 7 66,884,896 (GRCm39) nonsense probably null
R4635_Mef2a_439 UTSW 7 66,890,175 (GRCm39) missense possibly damaging 0.67
P0024:Mef2a UTSW 7 66,945,322 (GRCm39) missense probably damaging 1.00
R0390:Mef2a UTSW 7 66,901,472 (GRCm39) missense probably damaging 0.96
R0583:Mef2a UTSW 7 66,884,896 (GRCm39) nonsense probably null
R0584:Mef2a UTSW 7 66,884,896 (GRCm39) nonsense probably null
R0589:Mef2a UTSW 7 66,884,896 (GRCm39) nonsense probably null
R0597:Mef2a UTSW 7 66,884,896 (GRCm39) nonsense probably null
R0608:Mef2a UTSW 7 66,884,896 (GRCm39) nonsense probably null
R0704:Mef2a UTSW 7 66,884,896 (GRCm39) nonsense probably null
R1859:Mef2a UTSW 7 66,915,766 (GRCm39) missense probably damaging 0.97
R2166:Mef2a UTSW 7 66,915,870 (GRCm39) missense probably damaging 1.00
R2427:Mef2a UTSW 7 66,915,808 (GRCm39) missense probably damaging 0.98
R3619:Mef2a UTSW 7 66,918,075 (GRCm39) missense probably benign 0.34
R4576:Mef2a UTSW 7 66,890,187 (GRCm39) missense probably benign 0.00
R4577:Mef2a UTSW 7 66,890,187 (GRCm39) missense probably benign 0.00
R4578:Mef2a UTSW 7 66,890,187 (GRCm39) missense probably benign 0.00
R4635:Mef2a UTSW 7 66,890,175 (GRCm39) missense possibly damaging 0.67
R5805:Mef2a UTSW 7 66,901,416 (GRCm39) missense possibly damaging 0.89
R7655:Mef2a UTSW 7 66,945,142 (GRCm39) missense probably damaging 0.99
R7656:Mef2a UTSW 7 66,945,142 (GRCm39) missense probably damaging 0.99
R8182:Mef2a UTSW 7 66,917,875 (GRCm39) missense probably benign 0.08
R8526:Mef2a UTSW 7 66,901,473 (GRCm39) missense possibly damaging 0.82
R8870:Mef2a UTSW 7 66,890,176 (GRCm39) missense probably benign
X0011:Mef2a UTSW 7 66,884,912 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTATCAGGGTCTGGGCTGTC -3'
(R):5'- GCTTATGGTACTTGCAGAACTG -3'

Sequencing Primer
(F):5'- GGCTGTCGCACCCTCTG -3'
(R):5'- ACAGAACCTGTGTATTCGACCTGTG -3'
Posted On 2015-02-19