Incidental Mutation 'R1475:Myf5'
ID 164004
Institutional Source Beutler Lab
Gene Symbol Myf5
Ensembl Gene ENSMUSG00000000435
Gene Name myogenic factor 5
Synonyms Myf-5, bHLHc2, B130010J22Rik
MMRRC Submission 039528-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1475 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 107318769-107321995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107320515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 190 (V190A)
Ref Sequence ENSEMBL: ENSMUSP00000000445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000445]
AlphaFold P24699
Predicted Effect probably benign
Transcript: ENSMUST00000000445
AA Change: V190A

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000000445
Gene: ENSMUSG00000000435
AA Change: V190A

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 0.0620 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 96% (46/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik A T 8: 122,267,327 (GRCm39) probably benign Het
9230112D13Rik T A 14: 34,234,012 (GRCm39) D93V unknown Het
Aatk G A 11: 119,901,714 (GRCm39) T894M probably damaging Het
Acacb T C 5: 114,333,313 (GRCm39) I479T possibly damaging Het
Acap3 T C 4: 155,987,278 (GRCm39) I431T probably damaging Het
Adgrl1 A G 8: 84,664,979 (GRCm39) K1267R possibly damaging Het
Bphl A C 13: 34,244,507 (GRCm39) D208A probably benign Het
C2cd5 T C 6: 143,018,298 (GRCm39) D308G possibly damaging Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Cdk11b G A 4: 155,718,674 (GRCm39) R208H probably damaging Het
Cfap44 T C 16: 44,254,175 (GRCm39) probably benign Het
Chrna4 T C 2: 180,671,172 (GRCm39) S195G probably benign Het
Cpsf2 T C 12: 101,951,495 (GRCm39) L144S probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dffa T A 4: 149,201,935 (GRCm39) L171Q probably damaging Het
Emcn C T 3: 137,085,668 (GRCm39) H89Y possibly damaging Het
Espn G A 4: 152,218,728 (GRCm39) P452S probably damaging Het
Fam78b T A 1: 166,829,346 (GRCm39) I71N probably damaging Het
Fam89b A G 19: 5,779,447 (GRCm39) S37P probably damaging Het
Fat4 G A 3: 38,942,472 (GRCm39) R455H probably damaging Het
Fbxo6 A G 4: 148,230,567 (GRCm39) F232L probably benign Het
Fcamr T A 1: 130,742,221 (GRCm39) probably null Het
Fermt3 T C 19: 6,996,242 (GRCm39) probably null Het
Fsip2 A T 2: 82,817,539 (GRCm39) D4424V probably damaging Het
Gaa G A 11: 119,165,142 (GRCm39) probably null Het
Glce T C 9: 61,968,210 (GRCm39) T314A possibly damaging Het
Hdac5 T C 11: 102,093,012 (GRCm39) Q575R possibly damaging Het
Il23r C A 6: 67,429,280 (GRCm39) probably null Het
Kcnj4 T A 15: 79,368,831 (GRCm39) E383V probably damaging Het
Lrsam1 G T 2: 32,844,277 (GRCm39) Q115K possibly damaging Het
Lyst T A 13: 13,882,797 (GRCm39) probably null Het
Nmnat2 G A 1: 152,950,441 (GRCm39) R42H probably damaging Het
Or8b42 T A 9: 38,342,160 (GRCm39) V194D probably benign Het
Or8k20 A T 2: 86,105,905 (GRCm39) *309R probably null Het
Osbpl1a T A 18: 12,890,737 (GRCm39) K380M probably damaging Het
Pgd T C 4: 149,241,232 (GRCm39) T226A probably benign Het
Pitpnm3 T C 11: 71,965,453 (GRCm39) T127A probably damaging Het
Plekhm2 T C 4: 141,355,165 (GRCm39) D954G possibly damaging Het
Pramel14 T C 4: 143,720,882 (GRCm39) K20E probably benign Het
Rasal1 T A 5: 120,801,047 (GRCm39) F236I possibly damaging Het
Stab1 T C 14: 30,885,785 (GRCm39) N63S probably benign Het
Syf2 T A 4: 134,662,745 (GRCm39) M145K possibly damaging Het
Usp34 C A 11: 23,423,253 (GRCm39) L3152I probably damaging Het
Usp50 T C 2: 126,611,787 (GRCm39) probably null Het
Wdfy4 A T 14: 32,830,645 (GRCm39) I929N probably benign Het
Zfp874b A T 13: 67,622,211 (GRCm39) probably null 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
R4903:Myf5 UTSW 10 107,321,733 (GRCm39) nonsense probably null
R4966:Myf5 UTSW 10 107,321,733 (GRCm39) nonsense probably null
R5861:Myf5 UTSW 10 107,320,069 (GRCm39) missense probably benign 0.00
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'- TGGAGCACAAAACGGTCCTTAGC -3'
(R):5'- GCATTCTCTCCCCGAATTAGTGTGG -3'

Sequencing Primer
(F):5'- AAACGGTCCTTAGCCTCCC -3'
(R):5'- CCCTGGAGATTTGGAGACATC -3'
Posted On 2014-03-28