Incidental Mutation 'IGL02699:Osm'
| ID |
304076 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Osm
|
| Ensembl Gene |
ENSMUSG00000058755 |
| Gene Name |
oncostatin M |
| Synonyms |
OncoM |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02699
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
4186831-4191027 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4189723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 169
(V169A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075221]
|
| AlphaFold |
P53347 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
T |
C |
10: 77,157,853 (GRCm39) |
D198G |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,047,263 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
T |
A |
9: 78,579,271 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
T |
G |
4: 47,284,471 (GRCm39) |
|
probably benign |
Het |
| Ctdp1 |
T |
C |
18: 80,493,400 (GRCm39) |
D365G |
probably benign |
Het |
| Daam1 |
T |
C |
12: 72,035,717 (GRCm39) |
F971L |
probably damaging |
Het |
| Dalrd3 |
T |
A |
9: 108,448,088 (GRCm39) |
|
probably benign |
Het |
| Dnaaf5 |
T |
C |
5: 139,139,105 (GRCm39) |
|
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fbxo8 |
A |
G |
8: 57,043,223 (GRCm39) |
T236A |
possibly damaging |
Het |
| Ighv1-12 |
C |
A |
12: 114,579,736 (GRCm39) |
E29* |
probably null |
Het |
| Il17re |
A |
G |
6: 113,445,880 (GRCm39) |
D397G |
probably damaging |
Het |
| Ing5 |
A |
G |
1: 93,744,164 (GRCm39) |
N157D |
possibly damaging |
Het |
| Ipo11 |
T |
C |
13: 107,025,905 (GRCm39) |
E395G |
possibly damaging |
Het |
| Letm1 |
T |
C |
5: 33,902,492 (GRCm39) |
E599G |
possibly damaging |
Het |
| Mansc1 |
T |
C |
6: 134,587,317 (GRCm39) |
T287A |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,070,851 (GRCm39) |
N131D |
possibly damaging |
Het |
| Or10ak13 |
G |
T |
4: 118,639,349 (GRCm39) |
C144* |
probably null |
Het |
| Or13p3 |
T |
C |
4: 118,567,395 (GRCm39) |
S264P |
probably benign |
Het |
| Or6c2b |
T |
G |
10: 128,947,640 (GRCm39) |
Y218S |
probably benign |
Het |
| Or8k38 |
A |
T |
2: 86,488,691 (GRCm39) |
I37N |
probably benign |
Het |
| Phkg2 |
C |
T |
7: 127,181,722 (GRCm39) |
A278V |
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,489,195 (GRCm39) |
M709K |
probably damaging |
Het |
| Pzp |
A |
T |
6: 128,464,364 (GRCm39) |
|
probably null |
Het |
| Ric1 |
T |
C |
19: 29,499,957 (GRCm39) |
L12P |
possibly damaging |
Het |
| Skor1 |
C |
A |
9: 63,047,328 (GRCm39) |
|
probably benign |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Syncrip |
A |
G |
9: 88,338,607 (GRCm39) |
|
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,459,259 (GRCm39) |
E57G |
possibly damaging |
Het |
| Tmc1 |
C |
T |
19: 20,809,714 (GRCm39) |
|
probably null |
Het |
| Tmem59 |
T |
C |
4: 107,049,735 (GRCm39) |
M140T |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,774,433 (GRCm39) |
T2158A |
probably damaging |
Het |
|
| Other mutations in Osm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02007:Osm
|
APN |
11 |
4,189,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02477:Osm
|
APN |
11 |
4,189,604 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02478:Osm
|
APN |
11 |
4,189,507 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03328:Osm
|
APN |
11 |
4,188,426 (GRCm39) |
missense |
unknown |
|
|
R0212:Osm
|
UTSW |
11 |
4,188,465 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0667:Osm
|
UTSW |
11 |
4,189,918 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2237:Osm
|
UTSW |
11 |
4,188,505 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4790:Osm
|
UTSW |
11 |
4,188,435 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6621:Osm
|
UTSW |
11 |
4,189,541 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7148:Osm
|
UTSW |
11 |
4,189,936 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8669:Osm
|
UTSW |
11 |
4,189,665 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8805:Osm
|
UTSW |
11 |
4,189,839 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9205:Osm
|
UTSW |
11 |
4,188,504 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9673:Osm
|
UTSW |
11 |
4,189,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
T0975:Osm
|
UTSW |
11 |
4,189,588 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2015-04-16 |
Incidental Mutation