Incidental Mutation 'IGL02306:Ostn'
ID 287582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ostn
Ensembl Gene ENSMUSG00000052276
Gene Name osteocrin
Synonyms Ostc, musclin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02306
Quality Score
Status
Chromosome 16
Chromosomal Location 27126239-27169962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27165691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 127 (S127C)
Ref Sequence ENSEMBL: ENSMUSP00000067539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066852]
AlphaFold P61364
Predicted Effect probably damaging
Transcript: ENSMUST00000066852
AA Change: S127C

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000067539
Gene: ENSMUSG00000052276
AA Change: S127C

DomainStartEndE-ValueType
Pfam:Musclin 1 130 1.3e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160623
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele display impaired exercise endurance and impaired muscle adaptation to exercise. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,952,044 (GRCm39) Y680C probably damaging Het
Abcb11 C T 2: 69,095,801 (GRCm39) W846* probably null Het
Adam34 G A 8: 44,103,522 (GRCm39) R708C probably benign Het
Adam6a T A 12: 113,509,343 (GRCm39) L572Q possibly damaging Het
Aldoart2 A G 12: 55,612,489 (GRCm39) Y138C probably damaging Het
Amigo1 T A 3: 108,095,302 (GRCm39) F267Y probably benign Het
Car7 A G 8: 105,275,630 (GRCm39) Y137C probably damaging Het
Ccar2 A T 14: 70,379,471 (GRCm39) M509K probably benign Het
Cd160 A T 3: 96,716,139 (GRCm39) I17N possibly damaging Het
Cmya5 C T 13: 93,234,527 (GRCm39) G187D probably damaging Het
Crot A T 5: 9,018,701 (GRCm39) V555E possibly damaging Het
Cstf1 C T 2: 172,214,891 (GRCm39) T4I probably benign Het
Cyp2a12 A G 7: 26,732,008 (GRCm39) K250E probably damaging Het
Deaf1 T C 7: 140,904,094 (GRCm39) probably null Het
Dse C T 10: 34,036,130 (GRCm39) E249K probably damaging Het
E4f1 G T 17: 24,665,903 (GRCm39) R88S probably damaging Het
Fam83a A C 15: 57,858,704 (GRCm39) D248A probably damaging Het
Fhip2b T C 14: 70,826,437 (GRCm39) D217G probably benign Het
Hadhb T A 5: 30,371,747 (GRCm39) L66Q probably null Het
Kalrn T C 16: 34,130,897 (GRCm39) E440G probably damaging Het
Kif3b A G 2: 153,162,572 (GRCm39) Y527C probably damaging Het
Krt4 T C 15: 101,829,740 (GRCm39) I263V probably benign Het
Krtap29-1 A T 11: 99,869,092 (GRCm39) V263E probably damaging Het
Mms19 A G 19: 41,954,703 (GRCm39) L72P probably damaging Het
Mylpf T A 7: 126,812,330 (GRCm39) probably benign Het
Nalcn T A 14: 123,560,750 (GRCm39) I776F probably benign Het
Nedd4l T G 18: 65,306,025 (GRCm39) S292R possibly damaging Het
Nlrc3 A C 16: 3,782,688 (GRCm39) D240E probably damaging Het
Obscn A T 11: 58,890,497 (GRCm39) I7345N unknown Het
Or4c102 A T 2: 88,422,950 (GRCm39) K267N probably benign Het
Patl1 A G 19: 11,920,250 (GRCm39) K735E possibly damaging Het
Pde12 A G 14: 26,389,533 (GRCm39) L392P possibly damaging Het
Plxdc2 A G 2: 16,665,585 (GRCm39) I213V probably benign Het
Plxna4 T A 6: 32,183,059 (GRCm39) Y948F probably benign Het
Prlhr A T 19: 60,456,353 (GRCm39) V71E probably damaging Het
Prlr C T 15: 10,328,760 (GRCm39) P412S probably benign Het
Prmt9 A G 8: 78,287,447 (GRCm39) K196R probably benign Het
Rundc3a T A 11: 102,291,764 (GRCm39) L387Q probably damaging Het
Ryr3 T C 2: 112,664,459 (GRCm39) I1611V probably damaging Het
Ryr3 A G 2: 112,677,744 (GRCm39) probably null Het
Scart1 T C 7: 139,803,269 (GRCm39) C278R probably damaging Het
Sfxn2 T A 19: 46,578,987 (GRCm39) M240K probably damaging Het
Skor2 T C 18: 76,950,374 (GRCm39) S901P probably benign Het
Smad4 T C 18: 73,795,940 (GRCm39) probably null Het
Snrnp40 T G 4: 130,258,893 (GRCm39) C100W probably benign Het
Spink5 T A 18: 44,097,511 (GRCm39) D19E probably damaging Het
Sult1d1 T A 5: 87,703,914 (GRCm39) probably benign Het
Wdr59 G A 8: 112,219,365 (GRCm39) L231F probably damaging Het
Other mutations in Ostn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Ostn APN 16 27,140,132 (GRCm39) missense possibly damaging 0.67
P0007:Ostn UTSW 16 27,143,279 (GRCm39) nonsense probably null
R0827:Ostn UTSW 16 27,143,381 (GRCm39) missense probably damaging 1.00
R4151:Ostn UTSW 16 27,140,152 (GRCm39) missense probably benign 0.13
R7248:Ostn UTSW 16 27,165,719 (GRCm39) critical splice donor site probably null
R7731:Ostn UTSW 16 27,165,668 (GRCm39) missense probably damaging 1.00
R7982:Ostn UTSW 16 27,140,189 (GRCm39) critical splice donor site probably null
R8338:Ostn UTSW 16 27,143,285 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16