Incidental Mutation 'R6705:Myf6'
ID 528905
Institutional Source Beutler Lab
Gene Symbol Myf6
Ensembl Gene ENSMUSG00000035923
Gene Name myogenic factor 6
Synonyms herculin, bHLHc4, MRF4
MMRRC Submission 044823-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.891) question?
Stock # R6705 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 107328709-107330584 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 107329690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 198 (V198M)
Ref Sequence ENSEMBL: ENSMUSP00000047529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044210]
AlphaFold P15375
Predicted Effect possibly damaging
Transcript: ENSMUST00000044210
AA Change: V198M

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047529
Gene: ENSMUSG00000035923
AA Change: V198M

DomainStartEndE-ValueType
BASIC 3 98 4.23e-40 SMART
HLH 99 150 8.72e-15 SMART
low complexity region 210 221 N/A INTRINSIC
Meta Mutation Damage Score 0.0635 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for targeted mutations exhibit variable rib abnormalities, abnormal intercostal muscle morphology, reduced expression of Myf5, and postnatal mortality proportional to the severity of the rib defect. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 G A 19: 57,204,253 (GRCm39) T46I probably benign Het
Afdn G A 17: 14,108,283 (GRCm39) V1269I probably benign Het
Aldh5a1 A T 13: 25,096,253 (GRCm39) N448K probably damaging Het
Cant1 G T 11: 118,298,698 (GRCm39) T355K probably damaging Het
Ccn2 T A 10: 24,471,853 (GRCm39) L25Q probably damaging Het
Comp C A 8: 70,829,387 (GRCm39) N321K probably damaging Het
D1Pas1 G T 1: 186,700,576 (GRCm39) E168D probably benign Het
Ddx23 G A 15: 98,550,849 (GRCm39) R111* probably null Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Erlin2 T A 8: 27,526,468 (GRCm39) L276Q probably damaging Het
Etaa1 T C 11: 17,895,639 (GRCm39) N826S probably benign Het
Fam168b A T 1: 34,867,864 (GRCm39) N45K probably damaging Het
Gas2l2 G A 11: 83,313,462 (GRCm39) R617* probably null Het
Gtf3c2 C A 5: 31,323,352 (GRCm39) C533F possibly damaging Het
Hdac5 T C 11: 102,092,062 (GRCm39) T676A probably damaging Het
Helb A G 10: 119,925,716 (GRCm39) probably null Het
Igkv3-7 A T 6: 70,585,004 (GRCm39) S95C probably benign Het
Kdm3b A G 18: 34,952,926 (GRCm39) I899V probably damaging Het
Lgr5 G A 10: 115,423,193 (GRCm39) S69F probably damaging Het
Lrrc55 A T 2: 85,026,699 (GRCm39) D108E probably benign Het
Mphosph9 T C 5: 124,429,027 (GRCm39) N667S possibly damaging Het
Nav2 T C 7: 49,201,664 (GRCm39) S1413P probably damaging Het
Nfe2l1 A C 11: 96,718,451 (GRCm39) V28G probably damaging Het
Nup210 G T 6: 91,064,942 (GRCm39) T186K possibly damaging Het
Or13a18 T A 7: 140,190,697 (GRCm39) M206K probably damaging Het
Or6c1b G A 10: 129,272,941 (GRCm39) D87N probably benign Het
Or8b12 T A 9: 37,658,030 (GRCm39) I200N possibly damaging Het
Or8b4 T A 9: 37,830,080 (GRCm39) N42K probably damaging Het
Ppfia1 G A 7: 144,072,911 (GRCm39) T301M possibly damaging Het
Ppp1r14c A T 10: 3,316,890 (GRCm39) Y75F probably damaging Het
Ppp1r3g C A 13: 36,152,880 (GRCm39) A100E probably benign Het
Rictor A G 15: 6,823,493 (GRCm39) T1557A probably benign Het
Shc1 C T 3: 89,330,266 (GRCm39) R67* probably null Het
Skint10 A T 4: 112,630,301 (GRCm39) probably benign Het
Slk A G 19: 47,597,498 (GRCm39) N102S probably benign Het
Tbc1d5 T C 17: 51,332,203 (GRCm39) probably benign Het
Tiam2 G A 17: 3,568,518 (GRCm39) V1555I probably benign Het
Vmn1r174 C A 7: 23,453,851 (GRCm39) S172R probably benign Het
Vps39 A T 2: 120,151,157 (GRCm39) N823K probably benign Het
Wdr27 A T 17: 15,154,852 (GRCm39) Y22N probably damaging Het
Xrn2 A G 2: 146,878,582 (GRCm39) probably null Het
Zbp1 A T 2: 173,055,680 (GRCm39) C161* probably null Het
Zfp236 T A 18: 82,651,862 (GRCm39) E821V probably damaging Het
Other mutations in Myf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:Myf6 APN 10 107,330,259 (GRCm39) missense probably damaging 1.00
IGL03131:Myf6 APN 10 107,330,132 (GRCm39) missense probably damaging 1.00
R0067:Myf6 UTSW 10 107,329,340 (GRCm39) splice site probably null
R0067:Myf6 UTSW 10 107,329,340 (GRCm39) splice site probably null
R0562:Myf6 UTSW 10 107,330,420 (GRCm39) missense probably benign 0.45
R1635:Myf6 UTSW 10 107,330,534 (GRCm39) missense probably damaging 1.00
R1700:Myf6 UTSW 10 107,329,220 (GRCm39) missense probably damaging 1.00
R4361:Myf6 UTSW 10 107,330,293 (GRCm39) small deletion probably benign
R4686:Myf6 UTSW 10 107,329,689 (GRCm39) missense probably benign
R5601:Myf6 UTSW 10 107,330,475 (GRCm39) missense probably damaging 0.99
R6229:Myf6 UTSW 10 107,330,280 (GRCm39) missense possibly damaging 0.92
R7024:Myf6 UTSW 10 107,330,390 (GRCm39) missense probably damaging 1.00
R9041:Myf6 UTSW 10 107,329,225 (GRCm39) missense probably benign
R9180:Myf6 UTSW 10 107,329,318 (GRCm39) missense probably benign 0.38
R9487:Myf6 UTSW 10 107,330,073 (GRCm39) missense probably benign 0.03
Z1176:Myf6 UTSW 10 107,330,121 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- AGCTCTTTGTGCTCAGCCAG -3'
(R):5'- AATGCAGTCTGGCCCAAGAAAG -3'

Sequencing Primer
(F):5'- TCAGCCAGAGCACTCCTGTG -3'
(R):5'- TCTGGCCCAAGAAAGCAGGG -3'
Posted On 2018-07-24