Incidental Mutation 'R7024:Myf6'
ID 545847
Institutional Source Beutler Lab
Gene Symbol Myf6
Ensembl Gene ENSMUSG00000035923
Gene Name myogenic factor 6
Synonyms herculin, bHLHc4, MRF4
MMRRC Submission 045125-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # R7024 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 107328709-107330584 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107330390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 59 (E59G)
Ref Sequence ENSEMBL: ENSMUSP00000047529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044210]
AlphaFold P15375
Predicted Effect probably damaging
Transcript: ENSMUST00000044210
AA Change: E59G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047529
Gene: ENSMUSG00000035923
AA Change: E59G

DomainStartEndE-ValueType
BASIC 3 98 4.23e-40 SMART
HLH 99 150 8.72e-15 SMART
low complexity region 210 221 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (61/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik A G 16: 88,424,108 (GRCm39) S128P probably damaging Het
Abcc1 G C 16: 14,231,247 (GRCm39) probably null Het
Atg2a G A 19: 6,300,249 (GRCm39) G686S possibly damaging Het
Atrnl1 A T 19: 57,626,882 (GRCm39) probably null Het
Brd4 T C 17: 32,440,884 (GRCm39) probably benign Het
Camsap3 A G 8: 3,658,242 (GRCm39) E688G probably damaging Het
Cc2d2a T A 5: 43,891,271 (GRCm39) S1402R probably benign Het
Ccnb1 A G 13: 100,922,888 (GRCm39) probably null Het
Cdc42bpb G A 12: 111,292,519 (GRCm39) H339Y probably damaging Het
Ciart T A 3: 95,786,392 (GRCm39) T94S probably benign Het
Col6a5 T A 9: 105,789,674 (GRCm39) K1540* probably null Het
Csmd3 A T 15: 47,574,387 (GRCm39) V1969E probably damaging Het
Dgka T G 10: 128,556,356 (GRCm39) N710T probably damaging Het
Dock6 A G 9: 21,731,666 (GRCm39) V1212A probably benign Het
Dync2i2 A G 2: 29,928,278 (GRCm39) V116A possibly damaging Het
En1 C T 1: 120,531,051 (GRCm39) P97L unknown Het
Esd T A 14: 74,982,102 (GRCm39) F172L probably damaging Het
Gfer C A 17: 24,914,942 (GRCm39) D34Y probably damaging Het
Gm2832 G A 14: 41,001,696 (GRCm39) M68I Het
Hmgcr A G 13: 96,795,418 (GRCm39) S384P probably benign Het
Hsp90aa1 T C 12: 110,660,546 (GRCm39) T299A possibly damaging Het
Igsf10 A G 3: 59,239,122 (GRCm39) M353T probably benign Het
Ino80b T C 6: 83,099,306 (GRCm39) T211A probably benign Het
Lamb2 C A 9: 108,366,687 (GRCm39) T1607K probably benign Het
Lhfpl5 A G 17: 28,801,957 (GRCm39) E218G probably benign Het
Lpo C A 11: 87,707,269 (GRCm39) C248F probably damaging Het
Lrrc3 C T 10: 77,736,825 (GRCm39) D204N probably damaging Het
Mavs C A 2: 131,085,051 (GRCm39) L160I probably benign Het
Morn4 C T 19: 42,066,483 (GRCm39) D35N possibly damaging Het
Mroh8 G A 2: 157,063,183 (GRCm39) H813Y probably benign Het
Nhsl3 T A 4: 129,119,201 (GRCm39) E173V probably null Het
Nlrp10 T A 7: 108,524,405 (GRCm39) E358D possibly damaging Het
Odad2 A C 18: 7,211,593 (GRCm39) D760E probably benign Het
Optn T C 2: 5,057,648 (GRCm39) probably null Het
Or12e8 A G 2: 87,188,066 (GRCm39) T93A probably benign Het
Or13a19 T C 7: 139,902,759 (GRCm39) I49T possibly damaging Het
Or1e1d-ps1 T A 11: 73,819,332 (GRCm39) L94* probably null Het
Or1o1 T C 17: 37,717,095 (GRCm39) F219L probably benign Het
Or5g9 T A 2: 85,551,952 (GRCm39) F68I probably damaging Het
Or7g28 T C 9: 19,272,579 (GRCm39) E24G possibly damaging Het
Plxna4 T A 6: 32,169,204 (GRCm39) H1331L probably damaging Het
Poli A T 18: 70,649,920 (GRCm39) M357K possibly damaging Het
Psd4 T G 2: 24,284,555 (GRCm39) C140G possibly damaging Het
Rab3gap1 T A 1: 127,818,835 (GRCm39) probably null Het
Rasa3 T C 8: 13,681,826 (GRCm39) N41S probably benign Het
Rps6kc1 A G 1: 190,532,407 (GRCm39) S532P probably benign Het
S100a3 T A 3: 90,509,747 (GRCm39) probably null Het
Sfrp5 T C 19: 42,190,204 (GRCm39) K83E possibly damaging Het
Slco1a4 T C 6: 141,780,434 (GRCm39) I119V probably benign Het
Snx15 T A 19: 6,170,626 (GRCm39) Q271L probably damaging Het
Sorcs2 C A 5: 36,178,605 (GRCm39) S1128I probably damaging Het
Tbc1d7 A T 13: 43,308,211 (GRCm39) F85I probably damaging Het
Thoc7 A G 14: 13,953,528 (GRCm38) Y46H probably damaging Het
Top1mt T A 15: 75,539,297 (GRCm39) Y366F probably damaging Het
Trpv2 C A 11: 62,475,287 (GRCm39) S233R probably benign Het
Vav1 C A 17: 57,586,268 (GRCm39) T24N probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdfy4 G T 14: 32,686,583 (GRCm39) probably null Het
Wdr3 A G 3: 100,062,313 (GRCm39) S201P probably benign Het
Wfs1 C T 5: 37,124,294 (GRCm39) D866N probably damaging Het
Wnk1 A T 6: 119,942,687 (GRCm39) probably benign Het
Xpot G T 10: 121,438,304 (GRCm39) Q762K probably benign Het
Zfp287 A T 11: 62,605,764 (GRCm39) L370H possibly 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
R6705:Myf6 UTSW 10 107,329,690 (GRCm39) missense possibly damaging 0.70
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'- AGAATCTCCACCTTGGGCAG -3'
(R):5'- CAGATCAGTCAGAGGCCAAG -3'

Sequencing Primer
(F):5'- ACAGTCCGACGCTTCAGG -3'
(R):5'- GAGAACATGATGATGGACCTTTTTG -3'
Posted On 2019-05-13