Incidental Mutation 'IGL01545:Myod1'
ID90318
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myod1
Ensembl Gene ENSMUSG00000009471
Gene Namemyogenic differentiation 1
SynonymsMYF3, Myod-1, MyoD, bHLHc1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.882) question?
Stock #IGL01545
Quality Score
Status
Chromosome7
Chromosomal Location46376474-46379099 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 46377115 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 148 (E148V)
Ref Sequence ENSEMBL: ENSMUSP00000072330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072514]
PDB Structure
CRYSTAL STRUCTURE OF MYOD BHLH DOMAIN BOUND TO DNA: PERSPECTIVES ON DNA RECOGNITION AND IMPLICATIONS FOR TRANSCRIPTIONAL ACTIVATION [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000072514
AA Change: E148V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000072330
Gene: ENSMUSG00000009471
AA Change: E148V

DomainStartEndE-ValueType
BASIC 1 114 1.29e-62 SMART
HLH 115 166 1.44e-15 SMART
low complexity region 169 186 N/A INTRINSIC
Pfam:Myf5 190 258 1.6e-27 PFAM
low complexity region 261 286 N/A INTRINSIC
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 encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal muscle development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik G A 11: 30,426,228 S213L probably benign Het
Adgrv1 A G 13: 81,466,184 I4030T possibly damaging Het
Ap4b1 G A 3: 103,812,827 R55H probably benign Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Atp6v1h T A 1: 5,089,059 M55K probably benign Het
B3galt4 A C 17: 33,951,213 V17G probably benign Het
Cd79a A T 7: 24,901,266 M172L probably benign Het
Cry1 A T 10: 85,184,362 L37H possibly damaging Het
D430042O09Rik A G 7: 125,752,971 probably null Het
D5Ertd615e A T 5: 45,169,413 noncoding transcript Het
Dnah17 A T 11: 118,119,568 L308Q probably damaging Het
Dnah7a C T 1: 53,518,782 A2158T probably benign Het
Dusp2 A G 2: 127,337,775 T313A probably benign Het
Fam110c T C 12: 31,074,983 S315P probably damaging Het
Fcer2a G A 8: 3,683,598 R198* probably null Het
Fryl G A 5: 73,054,597 T2359M probably damaging Het
Gm14221 G A 2: 160,568,383 noncoding transcript Het
Gpc6 T G 14: 117,964,830 L484R probably damaging Het
Igdcc3 G A 9: 65,180,073 V298M probably damaging Het
Impg2 T A 16: 56,225,717 probably benign Het
Iqca T A 1: 90,045,642 M803L probably benign Het
Itga4 T C 2: 79,315,970 probably benign Het
Kidins220 T C 12: 25,040,460 F1141S possibly damaging Het
Kif7 A G 7: 79,702,278 I912T probably damaging Het
Klhl38 G A 15: 58,322,458 R292W probably damaging Het
Lama3 A G 18: 12,441,131 D590G probably benign Het
Map4k4 T C 1: 40,014,229 probably benign Het
Mbd4 A T 6: 115,850,797 D39E probably damaging Het
Mrm2 A G 5: 140,331,255 V8A probably benign Het
Olfr74 A C 2: 87,974,551 I38S probably benign Het
Pdcd10 A T 3: 75,541,168 F30I possibly damaging Het
Ptcd1 T A 5: 145,159,536 H249L probably damaging Het
Ptcd3 A T 6: 71,888,577 D451E probably benign Het
Rab44 C A 17: 29,147,377 S680R unknown Het
Rad21l A T 2: 151,655,164 D340E probably benign Het
Ranbp2 T C 10: 58,478,881 F1808L possibly damaging Het
Rnf122 T C 8: 31,128,602 V126A probably damaging Het
Slc25a47 G T 12: 108,854,216 V49L probably benign Het
Slc36a2 T C 11: 55,184,807 probably null Het
Sorl1 G A 9: 42,043,956 R668W probably damaging Het
Tbx19 T A 1: 165,139,156 N383I possibly damaging Het
Tenm4 A G 7: 96,874,303 H1676R probably benign Het
Tgm5 G T 2: 121,052,808 R351S probably damaging Het
Tmem106b A G 6: 13,071,843 S34G probably benign Het
Trmo C T 4: 46,386,169 G119R probably damaging Het
Ubr4 G A 4: 139,442,829 probably benign Het
Wfdc11 A G 2: 164,665,445 probably null Het
Xrn2 T A 2: 147,038,179 I474K probably benign Het
Zfp827 A G 8: 79,070,434 K383R probably damaging Het
Other mutations in Myod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02226:Myod1 APN 7 46378306 missense probably benign
R0193:Myod1 UTSW 7 46377112 missense probably damaging 1.00
R4928:Myod1 UTSW 7 46377050 missense probably damaging 1.00
R5107:Myod1 UTSW 7 46377794 missense probably benign 0.00
R5699:Myod1 UTSW 7 46376983 missense probably damaging 0.99
R5985:Myod1 UTSW 7 46377798 missense probably damaging 1.00
R6362:Myod1 UTSW 7 46376881 missense possibly damaging 0.56
R6665:Myod1 UTSW 7 46376857 missense probably damaging 0.99
R6786:Myod1 UTSW 7 46378317 missense probably benign
R7295:Myod1 UTSW 7 46378219 missense probably benign 0.05
R7542:Myod1 UTSW 7 46376673 start codon destroyed probably benign 0.41
Posted On2013-12-03