Incidental Mutation 'R5318:Mef2b'
ID 405927
Institutional Source Beutler Lab
Gene Symbol Mef2b
Ensembl Gene ENSMUSG00000079033
Gene Name myocyte enhancer factor 2B
Synonyms
MMRRC Submission 042901-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5318 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 70605411-70620138 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70619493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 228 (R228W)
Ref Sequence ENSEMBL: ENSMUSP00000105768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110140] [ENSMUST00000110141] [ENSMUST00000110143] [ENSMUST00000110146] [ENSMUST00000163756]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000110140
AA Change: R218W

PolyPhen 2 Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105767
Gene: ENSMUSG00000079033
AA Change: R218W

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: R228W

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105768
Gene: ENSMUSG00000079033
AA Change: R228W

DomainStartEndE-ValueType
MADS 1 60 3.15e-34 SMART
low complexity region 97 114 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110143
AA Change: Q246L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000105770
Gene: ENSMUSG00000079033
AA Change: Q246L

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 benign
Transcript: ENSMUST00000110146
AA Change: Q256L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105773
Gene: ENSMUSG00000079033
AA Change: Q256L

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 benign
Transcript: ENSMUST00000163756
AA Change: Q256L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000132314
Gene: ENSMUSG00000079033
AA Change: Q256L

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.7%
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik G A 17: 35,878,883 (GRCm39) E74K possibly damaging Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ankfn1 A G 11: 89,282,754 (GRCm39) S298P probably damaging Het
Arfgef2 A C 2: 166,715,891 (GRCm39) K1393N probably damaging Het
Atp4a T A 7: 30,414,754 (GRCm39) V181E probably damaging Het
Bin3 A G 14: 70,371,961 (GRCm39) D134G possibly damaging Het
Cabs1 A G 5: 88,128,425 (GRCm39) T359A possibly damaging Het
Cblb A T 16: 52,006,561 (GRCm39) K754N possibly damaging Het
Ccdc153 A T 9: 44,157,062 (GRCm39) R135* probably null Het
Cel T C 2: 28,447,720 (GRCm39) E398G possibly damaging Het
Clip1 G A 5: 123,751,147 (GRCm39) probably benign Het
Dnase2b C A 3: 146,288,210 (GRCm39) R295L probably benign Het
Dnm3 G A 1: 161,839,376 (GRCm39) Q194* probably null Het
Dtx2 T A 5: 136,040,954 (GRCm39) S120T possibly damaging Het
Fat3 A T 9: 16,287,925 (GRCm39) S533T probably damaging Het
Foxred2 T C 15: 77,836,598 (GRCm39) I306V probably benign Het
Gdpd5 A T 7: 99,102,234 (GRCm39) T278S probably benign Het
Gli2 T A 1: 118,772,200 (GRCm39) T502S probably damaging Het
Gm21830 A T 2: 67,263,158 (GRCm39) probably null Het
Gm5617 T A 9: 48,407,211 (GRCm39) I115N possibly damaging Het
Gpr75 G T 11: 30,842,459 (GRCm39) A455S probably benign Het
Grik3 A G 4: 125,587,929 (GRCm39) E683G probably damaging Het
Grin2b T C 6: 135,710,916 (GRCm39) I877V probably damaging Het
Gsg1l2 G T 11: 67,673,347 (GRCm39) C109F possibly damaging Het
H2-Q4 G A 17: 35,602,287 (GRCm39) V341I possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Kif5c A G 2: 49,561,840 (GRCm39) K68R probably benign Het
Lct T A 1: 128,232,109 (GRCm39) H580L probably damaging Het
Lrrtm4 A G 6: 79,999,495 (GRCm39) I302M probably damaging Het
Mtus2 T A 5: 148,013,382 (GRCm39) D58E probably benign Het
Myh15 T G 16: 48,930,834 (GRCm39) S603A probably damaging Het
Or1x2 T C 11: 50,918,420 (GRCm39) V197A probably benign Het
Or8d1 C T 9: 38,766,744 (GRCm39) P129S probably damaging Het
Or8s2 A G 15: 98,276,523 (GRCm39) I156T possibly damaging Het
P2rx4 G A 5: 122,857,211 (GRCm39) C149Y probably null Het
Pramel51 A T 12: 88,142,998 (GRCm39) C207S probably benign Het
Proca1 T A 11: 78,092,683 (GRCm39) V43E possibly damaging Het
Rftn1 G T 17: 50,301,486 (GRCm39) N454K probably benign Het
Rrp15 T C 1: 186,453,743 (GRCm39) T235A probably benign Het
Serpina6 T C 12: 103,620,221 (GRCm39) E176G possibly damaging Het
Shprh T G 10: 11,042,301 (GRCm39) I761M probably benign Het
Smg1 A T 7: 117,759,427 (GRCm39) probably benign Het
Snupn T C 9: 56,864,345 (GRCm39) S15P probably damaging Het
Tbc1d15 A T 10: 115,044,874 (GRCm39) Y509* probably null Het
Tcf4 T C 18: 69,598,501 (GRCm39) V72A probably benign Het
Tdrd3 T C 14: 87,714,899 (GRCm39) probably null Het
Tm9sf4 T A 2: 153,029,576 (GRCm39) V175D probably benign Het
Vmn1r201 T C 13: 22,659,092 (GRCm39) L102P probably damaging Het
Wdfy4 T A 14: 32,800,300 (GRCm39) N1788I possibly damaging Het
Xpc A C 6: 91,469,992 (GRCm39) V744G probably damaging Het
Xrcc6 T C 15: 81,921,708 (GRCm39) F178L probably damaging Het
Zbed6 A G 1: 133,585,853 (GRCm39) S495P possibly damaging Het
Zfyve26 A G 12: 79,317,624 (GRCm39) V1196A probably benign 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
R4091:Mef2b UTSW 8 70,617,752 (GRCm39) missense probably damaging 1.00
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
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'- TGTTCCTGCAGAGAAGCCTG -3'
(R):5'- CCCACAAGATAGGTAAGAAGGCTTG -3'

Sequencing Primer
(F):5'- TTCCTGCAGAGAAGCCTGTACAG -3'
(R):5'- GTAGGCCATGGGGTTCTCTC -3'
Posted On 2016-07-22