Incidental Mutation 'IGL02699:Osm'
ID304076
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Osm
Ensembl Gene ENSMUSG00000058755
Gene Nameoncostatin M
SynonymsOncoM
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02699
Quality Score
Status
Chromosome11
Chromosomal Location4236420-4241026 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4239723 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 169 (V169A)
Ref Sequence ENSEMBL: ENSMUSP00000074708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075221]
Predicted Effect possibly damaging
Transcript: ENSMUST00000075221
AA Change: V169A

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000074708
Gene: ENSMUSG00000058755
AA Change: V169A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
LIF_OSM 28 183 7.44e-92 SMART
low complexity region 203 214 N/A INTRINSIC
low complexity region 217 245 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131764
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the leukemia inhibitory factor/oncostatin-M (LIF/OSM) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a secreted cytokine and growth regulator that inhibits the proliferation of a number of tumor cell lines. This protein also regulates the production of other cytokines, including interleukin 6, granulocyte-colony stimulating factor and granulocyte-macrophage colony stimulating factor in endothelial cells. This gene and the related gene, leukemia inhibitory factor, also present on chromosome 22, may have resulted from the duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous mutant mice display decreased noxious responses in models of acute thermal, mechanical, chemical, and visceral pain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,322,019 D198G probably benign Het
Casq1 T C 1: 172,219,696 probably benign Het
Cd109 T A 9: 78,671,989 probably benign Het
Col15a1 T G 4: 47,284,471 probably benign Het
Ctdp1 T C 18: 80,450,185 D365G probably benign Het
Daam1 T C 12: 71,988,943 F971L probably damaging Het
Dalrd3 T A 9: 108,570,889 probably benign Het
Dnaaf5 T C 5: 139,153,350 probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fbxo8 A G 8: 56,590,188 T236A possibly damaging Het
Ighv1-12 C A 12: 114,616,116 E29* probably null Het
Il17re A G 6: 113,468,919 D397G probably damaging Het
Ing5 A G 1: 93,816,442 N157D possibly damaging Het
Ipo11 T C 13: 106,889,397 E395G possibly damaging Het
Letm1 T C 5: 33,745,148 E599G possibly damaging Het
Mansc1 T C 6: 134,610,354 T287A probably benign Het
Med1 T C 11: 98,180,025 N131D possibly damaging Het
Olfr1085 A T 2: 86,658,347 I37N probably benign Het
Olfr1337 G T 4: 118,782,152 C144* probably null Het
Olfr1341 T C 4: 118,710,198 S264P probably benign Het
Olfr769 T G 10: 129,111,771 Y218S probably benign Het
Phkg2 C T 7: 127,582,550 A278V probably benign Het
Plod2 T A 9: 92,607,142 M709K probably damaging Het
Pzp A T 6: 128,487,401 probably null Het
Ric1 T C 19: 29,522,557 L12P possibly damaging Het
Skor1 C A 9: 63,140,046 probably benign Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Syncrip A G 9: 88,456,554 probably benign Het
Tex2 T C 11: 106,568,433 E57G possibly damaging Het
Tmc1 C T 19: 20,832,350 probably null Het
Tmem59 T C 4: 107,192,538 M140T probably benign Het
Ttn T C 2: 76,944,089 T2158A probably damaging Het
Other mutations in Osm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02007:Osm APN 11 4239470 missense probably damaging 0.99
IGL02477:Osm APN 11 4239604 missense probably damaging 0.99
IGL02478:Osm APN 11 4239507 missense probably damaging 0.96
IGL03328:Osm APN 11 4238426 missense unknown
R0212:Osm UTSW 11 4238465 missense probably benign 0.12
R0667:Osm UTSW 11 4239918 missense possibly damaging 0.53
R2237:Osm UTSW 11 4238505 missense possibly damaging 0.95
R4790:Osm UTSW 11 4238435 missense probably benign 0.01
R6621:Osm UTSW 11 4239541 missense probably benign 0.03
R7148:Osm UTSW 11 4239936 missense probably benign 0.02
T0975:Osm UTSW 11 4239588 missense probably benign 0.02
Posted On2015-04-16