Incidental Mutation 'R5985:Myod1'
ID 481601
Institutional Source Beutler Lab
Gene Symbol Myod1
Ensembl Gene ENSMUSG00000009471
Gene Name myogenic differentiation 1
Synonyms bHLHc1, MYF3, Myod-1, MyoD
MMRRC Submission 044165-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.882) question?
Stock # R5985 (G1)
Quality Score 120.008
Status Validated
Chromosome 7
Chromosomal Location 46025898-46028516 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46027222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 229 (Y229C)
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 damaging
Transcript: ENSMUST00000072514
AA Change: Y229C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072330
Gene: ENSMUSG00000009471
AA Change: Y229C

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 0.3152 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 96% (47/49)
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
Abca13 A C 11: 9,241,628 (GRCm39) I1164L probably benign Het
Actn1 C A 12: 80,215,169 (GRCm39) G864V probably damaging Het
Adgrf1 T C 17: 43,604,146 (GRCm39) I34T probably benign Het
Ankrd10 T A 8: 11,669,077 (GRCm39) K225* probably null Het
Ankrd29 G A 18: 12,412,832 (GRCm39) A115V probably damaging Het
Armh3 A T 19: 45,808,763 (GRCm39) Y643N probably damaging Het
Atg2a A G 19: 6,304,667 (GRCm39) T1175A probably damaging Het
Atp12a A G 14: 56,621,798 (GRCm39) D781G probably damaging Het
B4galnt3 G A 6: 120,187,119 (GRCm39) P759S probably damaging Het
Card10 T C 15: 78,675,411 (GRCm39) I448V probably benign Het
Col15a1 T C 4: 47,284,507 (GRCm39) F821L probably damaging Het
Cpeb3 T C 19: 37,064,952 (GRCm39) Y498C probably damaging Het
Defb37 A T 8: 19,036,347 (GRCm39) C58S probably damaging Het
Faap20 T C 4: 155,334,797 (GRCm39) probably benign Het
Frem1 C T 4: 82,884,287 (GRCm39) V1204I probably benign Het
Gal3st2 T C 1: 93,801,335 (GRCm39) V46A possibly damaging Het
Gan C T 8: 117,922,557 (GRCm39) S430L possibly damaging Het
Gas2 T A 7: 51,593,424 (GRCm39) I168K probably damaging Het
Gli3 A G 13: 15,898,140 (GRCm39) D740G probably damaging Het
Gm3898 G A 9: 43,741,329 (GRCm39) noncoding transcript Het
Gria4 T C 9: 4,503,593 (GRCm39) Q341R probably damaging Het
Herpud1 G A 8: 95,117,422 (GRCm39) R2Q probably damaging Het
Klf15 G A 6: 90,443,703 (GRCm39) G93R possibly damaging Het
Mtmr7 A G 8: 41,004,873 (GRCm39) F568L probably benign Het
Or12e14 A G 2: 87,187,949 (GRCm39) I54V probably benign Het
Or5l13 A G 2: 87,779,665 (GRCm39) M304T probably benign Het
Phf11b A G 14: 59,559,027 (GRCm39) L235P possibly damaging Het
Pira1 C A 7: 3,740,316 (GRCm39) G302C probably damaging Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Prox1 A T 1: 189,879,152 (GRCm39) F675L possibly damaging Het
Rnf144a C T 12: 26,367,779 (GRCm39) E176K probably benign Het
Safb2 T C 17: 56,870,181 (GRCm39) E965G possibly damaging Het
Sik3 A G 9: 46,122,973 (GRCm39) N874S probably damaging Het
Slitrk3 T C 3: 72,958,233 (GRCm39) I180V probably damaging Het
Speg T C 1: 75,383,328 (GRCm39) V1141A possibly damaging Het
Spns1 G A 7: 125,975,902 (GRCm39) T84I probably benign Het
Syne2 C G 12: 76,012,933 (GRCm39) P2709R probably damaging Het
Terb1 A T 8: 105,178,439 (GRCm39) S662T probably benign Het
Terb1 A G 8: 105,208,948 (GRCm39) S377P probably damaging Het
Tph1 A G 7: 46,303,205 (GRCm39) Y258H probably damaging Het
Trip12 T A 1: 84,703,492 (GRCm39) E1881D probably damaging Het
Trpc7 A G 13: 56,958,358 (GRCm39) L412P probably damaging Het
Ttll13 C T 7: 79,904,386 (GRCm39) A337V probably damaging Het
Ugt2b1 T C 5: 87,067,527 (GRCm39) K344E possibly damaging Het
Vmn1r36 T A 6: 66,693,855 (GRCm39) I7F probably benign Het
Vmn2r14 A T 5: 109,368,082 (GRCm39) N303K possibly damaging Het
Vmn2r25 A G 6: 123,800,587 (GRCm39) V585A probably benign Het
Zan A C 5: 137,444,299 (GRCm39) probably null Het
Zfp423 A T 8: 88,508,774 (GRCm39) N502K possibly damaging Het
Zfp473 C T 7: 44,382,752 (GRCm39) R526Q probably damaging 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
R5107:Myod1 UTSW 7 46,027,218 (GRCm39) missense probably benign 0.00
R5699:Myod1 UTSW 7 46,026,407 (GRCm39) missense probably damaging 0.99
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'- AACCAGCAGCTGAGACTAAG -3'
(R):5'- GGACTTGCTAGACTGGAAGG -3'

Sequencing Primer
(F):5'- CAGCAGCTGAGACTAAGGGAGTG -3'
(R):5'- ATAAAGGCCTGCTAGCTG -3'
Posted On 2017-06-26