Incidental Mutation 'R5107:Myod1'
ID 393605
Institutional Source Beutler Lab
Gene Symbol Myod1
Ensembl Gene ENSMUSG00000009471
Gene Name myogenic differentiation 1
Synonyms bHLHc1, MYF3, Myod-1, MyoD
MMRRC Submission 042695-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.882) question?
Stock # R5107 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 46025898-46028516 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 46027218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 228 (A228S)
Ref Sequence ENSEMBL: ENSMUSP00000072330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072514]
AlphaFold P10085
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 benign
Transcript: ENSMUST00000072514
AA Change: A228S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000072330
Gene: ENSMUSG00000009471
AA Change: A228S

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
Meta Mutation Damage Score 0.0685 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
Validation Efficiency 98% (56/57)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 61,001,472 (GRCm39) N85S possibly damaging Het
Adgre1 A G 17: 57,708,977 (GRCm39) Y56C possibly damaging Het
Agbl5 C A 5: 31,049,822 (GRCm39) P257Q probably damaging Het
Angptl2 A T 2: 33,118,615 (GRCm39) M130L probably damaging Het
Atp6v1f T A 6: 29,468,198 (GRCm39) probably null Het
Ccdc78 G A 17: 26,006,454 (GRCm39) V133M possibly damaging Het
Clpx A G 9: 65,215,821 (GRCm39) K145E possibly damaging Het
Col18a1 T C 10: 76,913,057 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Igkv4-54 T C 6: 69,608,914 (GRCm39) I24V possibly damaging Het
Ikzf3 A G 11: 98,381,302 (GRCm39) Y93H probably damaging Het
Isl2 T C 9: 55,449,570 (GRCm39) V82A probably benign Het
Kcnq2 A T 2: 180,750,340 (GRCm39) probably benign Het
Krt4 A T 15: 101,831,226 (GRCm39) M225K possibly damaging Het
Ksr2 T C 5: 117,827,673 (GRCm39) V484A probably benign Het
Lrba T A 3: 86,267,086 (GRCm39) V1592E possibly damaging Het
Lrrc7 G A 3: 157,867,533 (GRCm39) P736L probably damaging Het
Mettl8 A T 2: 70,795,901 (GRCm39) F376I probably damaging Het
Muc5b T A 7: 141,409,268 (GRCm39) H1117Q unknown Het
Myh7 T A 14: 55,223,881 (GRCm39) probably benign Het
Ntrk1 T C 3: 87,702,280 (GRCm39) T58A probably benign Het
Or12d17 A G 17: 37,777,144 (GRCm39) T16A probably damaging Het
Pdcd11 T A 19: 47,094,893 (GRCm39) V559E probably damaging Het
Pde10a A G 17: 9,163,802 (GRCm39) N191S probably damaging Het
Phf3 A G 1: 30,870,566 (GRCm39) S161P probably benign Het
Pias1 C A 9: 62,789,510 (GRCm39) A566S probably benign Het
Pik3c2g T C 6: 139,612,623 (GRCm39) probably benign Het
Pmp22 A G 11: 63,049,237 (GRCm39) E160G probably damaging Het
Polb T C 8: 23,135,062 (GRCm39) probably null Het
Prob1 T C 18: 35,785,989 (GRCm39) N755S possibly damaging Het
Rhou A T 8: 124,387,912 (GRCm39) K215* probably null Het
Scaper A G 9: 55,487,616 (GRCm39) S749P probably damaging Het
Selenop A G 15: 3,305,075 (GRCm39) E77G probably damaging Het
Sema3a C A 5: 13,627,572 (GRCm39) S490* probably null Het
Slc26a2 A G 18: 61,331,632 (GRCm39) Y600H probably damaging Het
Slfn8 A C 11: 82,907,976 (GRCm39) I189S probably damaging Het
Stab1 T A 14: 30,885,752 (GRCm39) probably null Het
Tbc1d13 G A 2: 30,036,733 (GRCm39) E205K probably damaging Het
Tex47 C T 5: 7,354,842 (GRCm39) R8W probably benign Het
Tmem198b T C 10: 128,638,156 (GRCm39) T136A probably benign Het
Trim36 T C 18: 46,305,705 (GRCm39) Q414R probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Ttn A G 2: 76,608,496 (GRCm39) I16063T probably damaging Het
Ttn A G 2: 76,693,905 (GRCm39) V321A possibly damaging Het
Ubox5 A G 2: 130,441,688 (GRCm39) L333P probably damaging Het
Vmn2r19 T A 6: 123,286,602 (GRCm39) Y78* probably null Het
Wnk4 A G 11: 101,166,364 (GRCm39) probably benign Het
Xirp2 A G 2: 67,340,054 (GRCm39) D765G probably damaging Het
Xirp2 G T 2: 67,342,205 (GRCm39) G1482V probably damaging Het
Znhit1 A G 5: 137,015,682 (GRCm39) V2A probably benign Het
Other mutations in Myod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01545:Myod1 APN 7 46,026,539 (GRCm39) missense probably damaging 1.00
IGL02226:Myod1 APN 7 46,027,730 (GRCm39) missense probably benign
R0193:Myod1 UTSW 7 46,026,536 (GRCm39) missense probably damaging 1.00
R4928:Myod1 UTSW 7 46,026,474 (GRCm39) missense probably damaging 1.00
R5699:Myod1 UTSW 7 46,026,407 (GRCm39) missense probably damaging 0.99
R5985:Myod1 UTSW 7 46,027,222 (GRCm39) missense probably damaging 1.00
R6362:Myod1 UTSW 7 46,026,305 (GRCm39) missense possibly damaging 0.56
R6665:Myod1 UTSW 7 46,026,281 (GRCm39) missense probably damaging 0.99
R6786:Myod1 UTSW 7 46,027,741 (GRCm39) missense probably benign
R7295:Myod1 UTSW 7 46,027,643 (GRCm39) missense probably benign 0.05
R7542:Myod1 UTSW 7 46,026,097 (GRCm39) start codon destroyed probably benign 0.41
R8862:Myod1 UTSW 7 46,026,487 (GRCm39) missense probably damaging 0.99
R9149:Myod1 UTSW 7 46,026,593 (GRCm39) missense
R9297:Myod1 UTSW 7 46,026,356 (GRCm39) missense probably damaging 0.99
R9318:Myod1 UTSW 7 46,026,356 (GRCm39) missense probably damaging 0.99
R9710:Myod1 UTSW 7 46,026,575 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGCGACAGCTTCCAGTGTG -3'
(R):5'- AGGAAGGTGTGCATCATAGTTC -3'

Sequencing Primer
(F):5'- CAGTGTGTGGCTGGCTCCTAC -3'
(R):5'- GATAAAGGCCTGCTAGCT -3'
Posted On 2016-06-15