Incidental Mutation 'IGL02416:Mef2d'
ID292455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mef2d
Ensembl Gene ENSMUSG00000001419
Gene Namemyocyte enhancer factor 2D
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.895) question?
Stock #IGL02416
Quality Score
Status
Chromosome3
Chromosomal Location88142372-88172086 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 88156502 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 79 (R79C)
Ref Sequence ENSEMBL: ENSMUSP00000113638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001455] [ENSMUST00000107558] [ENSMUST00000107559] [ENSMUST00000119251]
Predicted Effect probably damaging
Transcript: ENSMUST00000001455
AA Change: R79C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001455
Gene: ENSMUSG00000001419
AA Change: R79C

DomainStartEndE-ValueType
MADS 1 60 1.54e-37 SMART
Pfam:HJURP_C 90 155 1.6e-13 PFAM
low complexity region 358 391 N/A INTRINSIC
low complexity region 426 452 N/A INTRINSIC
low complexity region 467 477 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107558
AA Change: R79C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103183
Gene: ENSMUSG00000001419
AA Change: R79C

DomainStartEndE-ValueType
MADS 1 60 1.54e-37 SMART
Pfam:HJURP_C 89 153 4.1e-24 PFAM
low complexity region 357 390 N/A INTRINSIC
low complexity region 425 451 N/A INTRINSIC
low complexity region 466 476 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107559
AA Change: R79C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103184
Gene: ENSMUSG00000001419
AA Change: R79C

DomainStartEndE-ValueType
MADS 1 60 1.54e-37 SMART
Pfam:HJURP_C 90 154 1.4e-11 PFAM
low complexity region 365 398 N/A INTRINSIC
low complexity region 433 459 N/A INTRINSIC
low complexity region 474 484 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119251
AA Change: R79C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113638
Gene: ENSMUSG00000001419
AA Change: R79C

DomainStartEndE-ValueType
MADS 1 60 1.54e-37 SMART
Pfam:HJURP_C 90 155 5.9e-14 PFAM
low complexity region 358 391 N/A INTRINSIC
low complexity region 426 452 N/A INTRINSIC
low complexity region 467 477 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140927
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal synapse formation between retinal photoreceptor and bipolar cells, progressive photoreceptor degeneration, and severely impaired electroretinograms. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T C 14: 68,572,833 N227S probably null Het
Adgrf5 T G 17: 43,444,980 probably null Het
Arid2 G A 15: 96,350,055 G116D possibly damaging Het
Arsa T A 15: 89,474,788 H225L probably damaging Het
Atf6 T A 1: 170,747,157 K571* probably null Het
Bicdl1 A C 5: 115,663,885 L38R probably damaging Het
Cct4 T C 11: 23,002,868 S515P probably damaging Het
Celsr3 A C 9: 108,832,119 D1388A probably damaging Het
Clca2 T C 3: 145,085,016 T432A probably benign Het
Des T A 1: 75,362,728 probably null Het
Dock11 T A X: 36,020,086 V1119E probably damaging Het
Dysf A G 6: 84,192,914 N1763S possibly damaging Het
Emilin1 A G 5: 30,917,788 S458G possibly damaging Het
Fhdc1 T G 3: 84,445,228 M897L probably benign Het
Foxj1 T C 11: 116,332,003 S325G probably benign Het
Gm5407 A G 16: 49,296,887 noncoding transcript Het
Gm6576 T C 15: 27,025,987 noncoding transcript Het
Hells G A 19: 38,964,627 S743N probably benign Het
Ighv2-9-1 A T 12: 113,770,111 L30Q probably damaging Het
Iqgap1 A T 7: 80,726,038 L1363H probably damaging Het
Lrp2 T C 2: 69,469,633 D3025G probably damaging Het
Mical1 G T 10: 41,484,810 probably null Het
Micu2 A T 14: 57,923,965 V300E probably damaging Het
Mmgt2 T C 11: 62,664,877 L17P probably damaging Het
Olfr1182 A G 2: 88,446,830 I36T probably benign Het
Olfr371 T A 8: 85,231,033 C179* probably null Het
Olfr873 A T 9: 20,300,245 E15V probably benign Het
Pigb A G 9: 73,017,432 S482P probably benign Het
Pkd1l2 T A 8: 117,040,835 T1239S possibly damaging Het
Pou1f1 T C 16: 65,531,956 I187T probably damaging Het
Prox1 C T 1: 190,161,130 A373T probably benign Het
Rabgap1 T C 2: 37,561,950 I954T probably benign Het
Scube3 T G 17: 28,164,136 C429W probably damaging Het
Slco6b1 T A 1: 96,924,333 noncoding transcript Het
Strc A T 2: 121,369,058 I1300N probably damaging Het
Tdrd6 T A 17: 43,624,738 R1806S probably benign Het
Trpm8 T A 1: 88,360,716 L860Q probably damaging Het
Vmn1r8 A G 6: 57,036,620 R219G probably damaging Het
Wdr48 A G 9: 119,924,760 S649G probably damaging Het
Other mutations in Mef2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01953:Mef2d APN 3 88156506 missense probably damaging 1.00
R0499:Mef2d UTSW 3 88156518 missense probably damaging 1.00
R4194:Mef2d UTSW 3 88158303 missense possibly damaging 0.61
R4816:Mef2d UTSW 3 88168090 missense possibly damaging 0.90
R4964:Mef2d UTSW 3 88168097 missense probably damaging 1.00
R5837:Mef2d UTSW 3 88161781 missense probably benign 0.14
R6238:Mef2d UTSW 3 88159545 missense probably damaging 1.00
R7227:Mef2d UTSW 3 88158207 splice site probably null
R7400:Mef2d UTSW 3 88167731 missense possibly damaging 0.85
RF022:Mef2d UTSW 3 88168267 missense probably benign 0.04
Z1177:Mef2d UTSW 3 88158128 missense possibly damaging 0.51
Posted On2015-04-16