Incidental Mutation 'IGL02007:Osm'
ID182241
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 #IGL02007
Quality Score
Status
Chromosome11
Chromosomal Location4236420-4241026 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 4239470 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 85 (R85W)
Ref Sequence ENSEMBL: ENSMUSP00000074708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075221]
Predicted Effect probably damaging
Transcript: ENSMUST00000075221
AA Change: R85W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074708
Gene: ENSMUSG00000058755
AA Change: R85W

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 C A 14: 68,633,219 R335L possibly damaging Het
Adgrv1 T C 13: 81,568,743 probably benign Het
Calcrl A G 2: 84,375,324 C8R probably benign Het
Cntn4 T A 6: 106,655,529 S505T probably benign Het
Cyp3a16 T C 5: 145,441,948 probably benign Het
Fam160a1 G T 3: 85,722,445 P280T probably damaging Het
Gm11127 G T 17: 36,056,330 N333K possibly damaging Het
Gpatch11 A G 17: 78,842,164 T198A probably benign Het
Heatr5a C A 12: 51,916,158 L986F probably damaging Het
Ift172 A G 5: 31,286,604 I90T probably benign Het
Igkv3-9 A G 6: 70,588,461 probably benign Het
Iqsec1 G A 6: 90,690,349 P369S probably benign Het
Myh1 C A 11: 67,220,556 T1607K probably benign Het
Myo18b T C 5: 112,874,972 probably benign Het
Nobox A G 6: 43,307,538 L58P probably damaging Het
Nwd2 T A 5: 63,804,699 I542N possibly damaging Het
Olfr1301 A G 2: 111,754,479 T77A probably damaging Het
Olfr474 A G 7: 107,954,746 Y35C probably damaging Het
Pcdh20 T C 14: 88,469,595 R90G probably benign Het
Pkhd1l1 T C 15: 44,533,733 probably benign Het
Sec14l2 A G 11: 4,111,114 S116P probably benign Het
Selenbp2 A C 3: 94,698,154 N96H possibly damaging Het
Smarcal1 T C 1: 72,595,940 S393P probably damaging Het
Tbc1d1 A G 5: 64,256,992 Q103R probably damaging Het
Tmem63c T C 12: 87,072,873 Y314H probably damaging Het
Wdr34 A G 2: 30,038,390 S75P probably benign Het
Zfp663 A C 2: 165,359,073 S14A probably benign Het
Zmynd10 A G 9: 107,550,532 N345S probably damaging Het
Other mutations in Osm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02477:Osm APN 11 4239604 missense probably damaging 0.99
IGL02478:Osm APN 11 4239507 missense probably damaging 0.96
IGL02699:Osm APN 11 4239723 missense possibly damaging 0.45
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 On2014-05-07