Incidental Mutation 'R4091:Mef2b'
ID 317612
Institutional Source Beutler Lab
Gene Symbol Mef2b
Ensembl Gene ENSMUSG00000079033
Gene Name myocyte enhancer factor 2B
Synonyms
MMRRC Submission 041626-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4091 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 70605411-70620138 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 70617752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 37 (V37M)
Ref Sequence ENSEMBL: ENSMUSP00000132314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110140] [ENSMUST00000110141] [ENSMUST00000110143] [ENSMUST00000110146] [ENSMUST00000163756]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000110140
AA Change: V37M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105767
Gene: ENSMUSG00000079033
AA Change: V37M

DomainStartEndE-ValueType
MADS 1 60 3.15e-34 SMART
low complexity region 97 114 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110141
AA Change: V37M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105768
Gene: ENSMUSG00000079033
AA Change: V37M

DomainStartEndE-ValueType
MADS 1 60 3.15e-34 SMART
low complexity region 97 114 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110143
AA Change: V37M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105770
Gene: ENSMUSG00000079033
AA Change: V37M

DomainStartEndE-ValueType
MADS 1 60 3.15e-34 SMART
low complexity region 97 114 N/A INTRINSIC
low complexity region 275 287 N/A INTRINSIC
low complexity region 310 325 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110146
AA Change: V37M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105773
Gene: ENSMUSG00000079033
AA Change: V37M

DomainStartEndE-ValueType
MADS 1 60 3.15e-34 SMART
low complexity region 97 114 N/A INTRINSIC
low complexity region 285 297 N/A INTRINSIC
low complexity region 320 335 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163756
AA Change: V37M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132314
Gene: ENSMUSG00000079033
AA Change: V37M

DomainStartEndE-ValueType
MADS 1 60 3.15e-34 SMART
low complexity region 97 114 N/A INTRINSIC
low complexity region 285 297 N/A INTRINSIC
low complexity region 320 335 N/A INTRINSIC
Meta Mutation Damage Score 0.8407 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the MADS/MEF2 family of DNA binding proteins. The protein is thought to regulate gene expression, including expression of the smooth muscle myosin heavy chain gene. This region undergoes considerable alternative splicing, with transcripts supporting two non-overlapping loci (GeneID 729991 and 100271849) as well as numerous read-through transcripts that span both loci (annotated as GeneID 4207). Several isoforms of this protein are expressed from either this locus or from some of the read-through transcripts annotated on GeneID 4207. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,575,722 (GRCm39) S674P possibly damaging Het
Abca3 C T 17: 24,616,456 (GRCm39) T966M probably damaging Het
Adam2 A T 14: 66,267,172 (GRCm39) Y696N probably damaging Het
Alas1 G T 9: 106,119,000 (GRCm39) probably null Het
Arhgap25 G T 6: 87,440,017 (GRCm39) S543R probably benign Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Bltp1 G A 3: 37,084,738 (GRCm39) A3897T probably benign Het
Carns1 C T 19: 4,221,682 (GRCm39) R191Q probably damaging Het
Casp8ap2 C A 4: 32,643,611 (GRCm39) P895T probably damaging Het
Col12a1 T A 9: 79,609,646 (GRCm39) I287F probably damaging Het
Cystm1 A G 18: 36,499,600 (GRCm39) N5S unknown Het
Dnah8 T C 17: 30,988,813 (GRCm39) V3261A probably damaging Het
Dnajc11 A G 4: 152,062,550 (GRCm39) probably benign Het
Dock4 T C 12: 40,894,266 (GRCm39) S1847P probably damaging Het
Dync2h1 A G 9: 7,131,881 (GRCm39) V1642A probably benign Het
Eftud2 T C 11: 102,730,242 (GRCm39) probably null Het
Fam221b A G 4: 43,665,987 (GRCm39) I208T probably benign Het
Gpr141b T A 13: 19,913,635 (GRCm39) noncoding transcript Het
Gpr37l1 T C 1: 135,089,301 (GRCm39) I255V probably benign Het
Grm7 G A 6: 110,891,301 (GRCm39) S178N probably damaging Het
Hspa12b T A 2: 130,975,408 (GRCm39) probably null Het
Kctd3 A T 1: 188,727,917 (GRCm39) probably benign Het
Kynu G A 2: 43,569,884 (GRCm39) V389M possibly damaging Het
Lcat A G 8: 106,666,538 (GRCm39) L328P probably benign Het
Lrrn2 C T 1: 132,865,390 (GRCm39) Q152* probably null Het
Maml1 G A 11: 50,182,656 (GRCm39) P78L probably benign Het
Mindy2 A T 9: 70,541,342 (GRCm39) M281K probably damaging Het
Mon2 C T 10: 122,874,415 (GRCm39) R311H probably damaging Het
Mtr A T 13: 12,245,943 (GRCm39) V394E probably damaging Het
Myh14 T A 7: 44,282,415 (GRCm39) T745S possibly damaging Het
Nme9 T A 9: 99,346,580 (GRCm39) D131E possibly damaging Het
Nphp4 C A 4: 152,631,475 (GRCm39) Q792K probably damaging Het
Nrxn2 T A 19: 6,523,444 (GRCm39) C479S probably damaging Het
Nsmf T C 2: 24,950,871 (GRCm39) I406T probably damaging Het
Or10a49 G A 7: 108,467,650 (GRCm39) A237V probably damaging Het
Or5an9 A T 19: 12,187,143 (GRCm39) D71V probably damaging Het
Or8g28 T A 9: 39,169,330 (GRCm39) I213F possibly damaging Het
Pbrm1 A G 14: 30,757,960 (GRCm39) T197A probably benign Het
Pla2r1 T A 2: 60,262,937 (GRCm39) N1034I probably damaging Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rxfp1 A T 3: 79,552,068 (GRCm39) D744E probably benign Het
Samd9l T C 6: 3,376,887 (GRCm39) N125D probably benign Het
Serpina3a G A 12: 104,082,625 (GRCm39) V133I probably benign Het
Slc22a30 C T 19: 8,381,909 (GRCm39) V121M probably damaging Het
Smarcc1 T A 9: 109,993,897 (GRCm39) D247E possibly damaging Het
Smg9 T A 7: 24,120,292 (GRCm39) L422Q probably null Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Tle5 G A 10: 81,401,418 (GRCm39) G162D probably damaging Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Utrn T A 10: 12,585,915 (GRCm39) D954V probably benign Het
Vmn1r227 T A 17: 20,955,778 (GRCm39) noncoding transcript Het
Vmn2r11 A C 5: 109,202,616 (GRCm39) probably null Het
Vmn2r84 A T 10: 130,227,238 (GRCm39) M200K probably damaging Het
Vmn2r88 T A 14: 51,652,883 (GRCm39) Y469N probably damaging Het
Wdcp A G 12: 4,905,279 (GRCm39) N600S probably null Het
Wdfy4 T G 14: 32,847,837 (GRCm39) R838S possibly damaging Het
Other mutations in Mef2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4378001:Mef2b UTSW 8 70,616,910 (GRCm39) missense probably damaging 1.00
R1023:Mef2b UTSW 8 70,618,247 (GRCm39) missense possibly damaging 0.82
R4162:Mef2b UTSW 8 70,618,961 (GRCm39) missense probably damaging 1.00
R4562:Mef2b UTSW 8 70,619,918 (GRCm39) missense probably damaging 1.00
R4950:Mef2b UTSW 8 70,619,846 (GRCm39) missense probably damaging 1.00
R5318:Mef2b UTSW 8 70,619,493 (GRCm39) missense probably damaging 0.99
R5752:Mef2b UTSW 8 70,618,267 (GRCm39) missense possibly damaging 0.77
R6126:Mef2b UTSW 8 70,619,526 (GRCm39) missense probably benign 0.01
R6279:Mef2b UTSW 8 70,619,769 (GRCm39) missense possibly damaging 0.78
R6300:Mef2b UTSW 8 70,619,769 (GRCm39) missense possibly damaging 0.78
R6332:Mef2b UTSW 8 70,616,789 (GRCm39) splice site probably null
R6369:Mef2b UTSW 8 70,618,209 (GRCm39) missense probably benign 0.05
R6873:Mef2b UTSW 8 70,618,957 (GRCm39) missense probably benign 0.29
R7266:Mef2b UTSW 8 70,616,938 (GRCm39) missense probably damaging 1.00
R9638:Mef2b UTSW 8 70,619,506 (GRCm39) frame shift probably null
X0022:Mef2b UTSW 8 70,619,484 (GRCm39) missense probably benign 0.41
Z1176:Mef2b UTSW 8 70,619,025 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGGAACACCCTGCTTTAACC -3'
(R):5'- AACAGGGTGACACAGTGACC -3'

Sequencing Primer
(F):5'- AACACCCTGCTTTAACCCTCCTC -3'
(R):5'- GGTGACACAGTGACCAACCG -3'
Posted On 2015-05-15