Incidental Mutation 'IGL02236:Myf5'
ID 285896
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myf5
Ensembl Gene ENSMUSG00000000435
Gene Name myogenic factor 5
Synonyms Myf-5, bHLHc2, B130010J22Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02236
Quality Score
Status
Chromosome 10
Chromosomal Location 107318769-107321995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107320051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 200 (S200P)
Ref Sequence ENSEMBL: ENSMUSP00000000445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000445]
AlphaFold P24699
Predicted Effect possibly damaging
Transcript: ENSMUST00000000445
AA Change: S200P

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000000445
Gene: ENSMUSG00000000435
AA Change: S200P

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
Coding Region Coverage
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz1b T C 5: 135,246,138 (GRCm39) L529P probably damaging Het
Bdp1 A T 13: 100,197,399 (GRCm39) D995E probably benign Het
Cd22 T C 7: 30,566,893 (GRCm39) N607S possibly damaging Het
Ddx10 T A 9: 53,146,682 (GRCm39) D180V probably damaging Het
Dennd4c T C 4: 86,725,672 (GRCm39) Y709H possibly damaging Het
Dhrs3 A C 4: 144,620,133 (GRCm39) I17L probably benign Het
Dnah8 A T 17: 30,868,747 (GRCm39) K394* probably null Het
Flnc T A 6: 29,454,375 (GRCm39) I1896N probably damaging Het
Glipr1l2 A G 10: 111,928,534 (GRCm39) Y143C probably damaging Het
Lmo7 T C 14: 102,163,524 (GRCm39) probably benign Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mast3 A G 8: 71,241,888 (GRCm39) S98P probably benign Het
Or52r1b T G 7: 102,690,928 (GRCm39) S76A possibly damaging Het
Pramel12 G A 4: 143,143,512 (GRCm39) V93I probably benign Het
Recql5 A C 11: 115,784,856 (GRCm39) S824A probably benign Het
Reg2 A G 6: 78,383,188 (GRCm39) E45G probably damaging Het
Rergl T C 6: 139,471,918 (GRCm39) D77G probably benign Het
Rnf224 T C 2: 25,126,260 (GRCm39) D31G probably damaging Het
Sema4c C T 1: 36,592,166 (GRCm39) S227N probably damaging Het
Sgsm2 C T 11: 74,750,698 (GRCm39) G439D probably damaging Het
Smap2 T A 4: 120,832,587 (GRCm39) M185L probably benign Het
Spty2d1 A G 7: 46,647,360 (GRCm39) V523A probably benign Het
Stk17b C A 1: 53,803,247 (GRCm39) R184L probably damaging Het
Syt13 A G 2: 92,771,210 (GRCm39) D99G probably damaging Het
Trav14-1 T A 14: 53,791,763 (GRCm39) S38T possibly damaging Het
Ttn T C 2: 76,700,812 (GRCm39) probably benign Het
Usp17la G A 7: 104,510,353 (GRCm39) W319* probably null Het
Vmn2r73 T C 7: 85,521,902 (GRCm39) T146A probably benign Het
Vwa3b C T 1: 37,193,132 (GRCm39) probably benign Het
Zfp13 A T 17: 23,799,739 (GRCm39) probably benign Het
Zscan18 A C 7: 12,503,251 (GRCm39) D769E probably benign Het
Other mutations in Myf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16