Incidental Mutation 'R5861:Myf5'
ID 490480
Institutional Source Beutler Lab
Gene Symbol Myf5
Ensembl Gene ENSMUSG00000000435
Gene Name myogenic factor 5
Synonyms Myf-5, bHLHc2, B130010J22Rik
MMRRC Submission 044073-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5861 (G1)
Quality Score 121
Status Validated
Chromosome 10
Chromosomal Location 107318769-107321995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107320069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 194 (C194S)
Ref Sequence ENSEMBL: ENSMUSP00000000445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000445]
AlphaFold P24699
Predicted Effect probably benign
Transcript: ENSMUST00000000445
AA Change: C194S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000000445
Gene: ENSMUSG00000000435
AA Change: C194S

DomainStartEndE-ValueType
BASIC 1 88 5e-51 SMART
HLH 89 140 7.7e-16 SMART
Pfam:Myf5 143 214 4.5e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198554
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.3%
Validation Efficiency 98% (81/83)
MGI Phenotype PHENOTYPE: Homozygotes for targeted null mutations exhibit delayed appearance of myotomal cells in somites, and lack the distal portion of ribs resulting in inability to breathe and lethality at birth. Other mutants lack the rib phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,218,644 (GRCm39) T246N probably damaging Het
Aopep A G 13: 63,446,626 (GRCm39) D143G probably damaging Het
Arhgap10 C T 8: 78,037,393 (GRCm39) A612T probably damaging Het
Arsg T A 11: 109,454,014 (GRCm39) F407I probably damaging Het
Asxl1 C A 2: 153,241,310 (GRCm39) A620D probably damaging Het
C2cd3 A G 7: 100,093,682 (GRCm39) probably benign Het
Chn2 G A 6: 54,267,359 (GRCm39) V92I probably damaging Het
Cog2 T C 8: 125,264,617 (GRCm39) F332S probably damaging Het
Crhbp G A 13: 95,580,333 (GRCm39) A82V probably damaging Het
Cyp2j6 A G 4: 96,434,040 (GRCm39) V90A possibly damaging Het
Dennd4c A T 4: 86,709,589 (GRCm39) M397L probably benign Het
Dnajb8 A G 6: 88,200,088 (GRCm39) D208G possibly damaging Het
Ecm1 G C 3: 95,643,909 (GRCm39) L230V probably damaging Het
Ercc2 G C 7: 19,128,066 (GRCm39) A696P possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gm13035 A G 4: 146,009,859 (GRCm39) noncoding transcript Het
Gm28042 T C 2: 119,865,116 (GRCm39) V247A probably damaging Het
Gm28455 T A 7: 39,148,003 (GRCm39) noncoding transcript Het
Gpr150 A T 13: 76,204,192 (GRCm39) V251D possibly damaging Het
Grip1 C T 10: 119,765,875 (GRCm39) S69L probably damaging Het
Hs6st3 A G 14: 119,376,265 (GRCm39) I147V possibly damaging Het
Il5 G A 11: 53,614,743 (GRCm39) E102K probably benign Het
Kif1c T C 11: 70,594,621 (GRCm39) F94L probably damaging Het
Lrrc63 T C 14: 75,344,806 (GRCm39) E427G possibly damaging Het
Man1b1 A G 2: 25,238,066 (GRCm39) T384A probably benign Het
Mapk15 C A 15: 75,868,208 (GRCm39) probably benign Het
Mfsd10 T C 5: 34,791,588 (GRCm39) probably benign Het
Mgat5 C A 1: 127,315,129 (GRCm39) A285E probably damaging Het
Mroh4 T A 15: 74,478,456 (GRCm39) probably benign Het
Myh7 A G 14: 55,226,347 (GRCm39) V431A possibly damaging Het
Nadsyn1 A C 7: 143,364,964 (GRCm39) M247R possibly damaging Het
Nipsnap3b A G 4: 53,021,177 (GRCm39) D166G probably damaging Het
Nqo2 A T 13: 34,156,413 (GRCm39) L42F probably damaging Het
Nt5dc3 A T 10: 86,651,738 (GRCm39) D180V probably damaging Het
Numa1 C A 7: 101,658,494 (GRCm39) probably null Het
Olfm3 T A 3: 114,916,052 (GRCm39) L328Q probably damaging Het
Or4e1 T C 14: 52,700,953 (GRCm39) Y171C probably damaging Het
Or5w17 A T 2: 87,583,922 (GRCm39) N138K probably benign Het
Or7a37 A T 10: 78,805,765 (GRCm39) Y94F probably damaging Het
Papolb T C 5: 142,514,992 (GRCm39) N217S possibly damaging Het
Pcmtd2 C A 2: 181,484,268 (GRCm39) T26K probably damaging Het
Pld5 T G 1: 175,917,571 (GRCm39) N59H probably damaging Het
Ppm1d T C 11: 85,202,674 (GRCm39) S126P possibly damaging Het
Ppp1r21 T C 17: 88,889,937 (GRCm39) L727P probably damaging Het
Pramel20 G T 4: 143,297,810 (GRCm39) V77L probably benign Het
Prpsap2 C T 11: 61,627,870 (GRCm39) R202H probably damaging Het
Rara T A 11: 98,858,987 (GRCm39) C148* probably null Het
Rexo2 A T 9: 48,386,481 (GRCm39) I83N probably damaging Het
Rnf213 A G 11: 119,364,203 (GRCm39) R4501G probably damaging Het
Rps5 T A 7: 12,659,501 (GRCm39) F97L probably damaging Het
Sigirr G A 7: 140,671,292 (GRCm39) R397W probably damaging Het
Slc6a6 T C 6: 91,718,014 (GRCm39) Y318H probably damaging Het
Spam1 A G 6: 24,796,570 (GRCm39) T174A probably benign Het
Stam2 G T 2: 52,632,116 (GRCm39) probably benign Het
Taar7a T C 10: 23,868,337 (GRCm39) E348G probably benign Het
Taf11 T C 17: 28,120,644 (GRCm39) T209A probably benign Het
Tenm4 A G 7: 96,492,424 (GRCm39) probably benign Het
Tmed6 G T 8: 107,790,786 (GRCm39) T87K probably damaging Het
Trim5 G T 7: 103,928,726 (GRCm39) H72N probably benign Het
Trim5 A C 7: 103,928,728 (GRCm39) L71R probably benign Het
Uevld A T 7: 46,576,104 (GRCm39) S461T probably benign Het
Vmn2r6 T A 3: 64,463,454 (GRCm39) N460I probably benign Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zfp316 T C 5: 143,249,095 (GRCm39) Y180C unknown Het
Zfp941 A G 7: 140,392,052 (GRCm39) S436P probably damaging Het
Zfp979 G A 4: 147,697,966 (GRCm39) Q248* probably null Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N probably damaging Het
Other mutations in Myf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02236:Myf5 APN 10 107,320,051 (GRCm39) missense possibly damaging 0.80
R0179:Myf5 UTSW 10 107,321,779 (GRCm39) missense possibly damaging 0.76
R1475:Myf5 UTSW 10 107,320,515 (GRCm39) missense probably benign 0.24
R4903:Myf5 UTSW 10 107,321,733 (GRCm39) nonsense probably null
R4966:Myf5 UTSW 10 107,321,733 (GRCm39) nonsense probably null
R8785:Myf5 UTSW 10 107,321,548 (GRCm39) missense probably benign 0.00
R9026:Myf5 UTSW 10 107,321,308 (GRCm39) missense probably benign
R9408:Myf5 UTSW 10 107,321,527 (GRCm39) missense probably damaging 1.00
Z1177:Myf5 UTSW 10 107,319,955 (GRCm39) missense possibly damaging 0.51
Predicted Primers PCR Primer
(F):5'- AGTGATCATCGGGAGAGAGTTC -3'
(R):5'- TATTACCAGGGGTCTTCCACAC -3'

Sequencing Primer
(F):5'- TCATCGGGAGAGAGTTCATAATAC -3'
(R):5'- ACACCTCTACCCTGGGGAATTG -3'
Posted On 2017-10-20