Incidental Mutation 'IGL02236:Myf5'
ID285896
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myf5
Ensembl Gene ENSMUSG00000000435
Gene Namemyogenic factor 5
SynonymsMyf-5, B130010J22Rik, bHLHc2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02236
Quality Score
Status
Chromosome10
Chromosomal Location107482908-107486134 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 107484190 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 200 (S200P)
Ref Sequence ENSEMBL: ENSMUSP00000000445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000445]
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: 135,217,284 L529P probably damaging Het
Bdp1 A T 13: 100,060,891 D995E probably benign Het
Cd22 T C 7: 30,867,468 N607S possibly damaging Het
Ddx10 T A 9: 53,235,382 D180V probably damaging Het
Dennd4c T C 4: 86,807,435 Y709H possibly damaging Het
Dhrs3 A C 4: 144,893,563 I17L probably benign Het
Dnah8 A T 17: 30,649,773 K394* probably null Het
Flnc T A 6: 29,454,376 I1896N probably damaging Het
Glipr1l2 A G 10: 112,092,629 Y143C probably damaging Het
Lmo7 T C 14: 101,926,088 probably benign Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Mast3 A G 8: 70,789,244 S98P probably benign Het
Olfr582 T G 7: 103,041,721 S76A possibly damaging Het
Pramef8 G A 4: 143,416,942 V93I probably benign Het
Recql5 A C 11: 115,894,030 S824A probably benign Het
Reg2 A G 6: 78,406,205 E45G probably damaging Het
Rergl T C 6: 139,494,920 D77G probably benign Het
Rnf224 T C 2: 25,236,248 D31G probably damaging Het
Sema4c C T 1: 36,553,085 S227N probably damaging Het
Sgsm2 C T 11: 74,859,872 G439D probably damaging Het
Smap2 T A 4: 120,975,390 M185L probably benign Het
Spty2d1 A G 7: 46,997,612 V523A probably benign Het
Stk17b C A 1: 53,764,088 R184L probably damaging Het
Syt13 A G 2: 92,940,865 D99G probably damaging Het
Trav14-1 T A 14: 53,554,306 S38T possibly damaging Het
Ttn T C 2: 76,870,468 probably benign Het
Usp17la G A 7: 104,861,146 W319* probably null Het
Vmn2r73 T C 7: 85,872,694 T146A probably benign Het
Vwa3b C T 1: 37,154,051 probably benign Het
Zfp13 A T 17: 23,580,765 probably benign Het
Zscan18 A C 7: 12,769,324 D769E probably benign Het
Other mutations in Myf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0179:Myf5 UTSW 10 107485918 missense possibly damaging 0.76
R1475:Myf5 UTSW 10 107484654 missense probably benign 0.24
R4903:Myf5 UTSW 10 107485872 nonsense probably null
R4966:Myf5 UTSW 10 107485872 nonsense probably null
R5861:Myf5 UTSW 10 107484208 missense probably benign 0.00
Posted On2015-04-16