Incidental Mutation 'IGL02007:Osm'
| ID |
182241 |
| 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 # |
IGL02007
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
4186831-4191027 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4189470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 85
(R85W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075221]
|
| AlphaFold |
P53347 |
| 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
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
C |
A |
14: 68,870,668 (GRCm39) |
R335L |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,716,862 (GRCm39) |
|
probably benign |
Het |
| Calcrl |
A |
G |
2: 84,205,668 (GRCm39) |
C8R |
probably benign |
Het |
| Cntn4 |
T |
A |
6: 106,632,490 (GRCm39) |
S505T |
probably benign |
Het |
| Cyp3a16 |
T |
C |
5: 145,378,758 (GRCm39) |
|
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,928,402 (GRCm39) |
S75P |
probably benign |
Het |
| Fhip1a |
G |
T |
3: 85,629,752 (GRCm39) |
P280T |
probably damaging |
Het |
| Gpatch11 |
A |
G |
17: 79,149,593 (GRCm39) |
T198A |
probably benign |
Het |
| H2-T15 |
G |
T |
17: 36,367,222 (GRCm39) |
N333K |
possibly damaging |
Het |
| Heatr5a |
C |
A |
12: 51,962,941 (GRCm39) |
L986F |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,443,948 (GRCm39) |
I90T |
probably benign |
Het |
| Igkv3-9 |
A |
G |
6: 70,565,445 (GRCm39) |
|
probably benign |
Het |
| Iqsec1 |
G |
A |
6: 90,667,331 (GRCm39) |
P369S |
probably benign |
Het |
| Myh1 |
C |
A |
11: 67,111,382 (GRCm39) |
T1607K |
probably benign |
Het |
| Myo18b |
T |
C |
5: 113,022,838 (GRCm39) |
|
probably benign |
Het |
| Nobox |
A |
G |
6: 43,284,472 (GRCm39) |
L58P |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,962,042 (GRCm39) |
I542N |
possibly damaging |
Het |
| Or4k51 |
A |
G |
2: 111,584,824 (GRCm39) |
T77A |
probably damaging |
Het |
| Or5p54 |
A |
G |
7: 107,553,953 (GRCm39) |
Y35C |
probably damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,707,031 (GRCm39) |
R90G |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,397,129 (GRCm39) |
|
probably benign |
Het |
| Sec14l2 |
A |
G |
11: 4,061,114 (GRCm39) |
S116P |
probably benign |
Het |
| Selenbp2 |
A |
C |
3: 94,605,461 (GRCm39) |
N96H |
possibly damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,635,099 (GRCm39) |
S393P |
probably damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,414,335 (GRCm39) |
Q103R |
probably damaging |
Het |
| Tmem63c |
T |
C |
12: 87,119,647 (GRCm39) |
Y314H |
probably damaging |
Het |
| Zfp663 |
A |
C |
2: 165,200,993 (GRCm39) |
S14A |
probably benign |
Het |
| Zmynd10 |
A |
G |
9: 107,427,731 (GRCm39) |
N345S |
probably damaging |
Het |
|
| Other mutations in Osm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02699:Osm
|
APN |
11 |
4,189,723 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
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 |
2014-05-07 |
Incidental Mutation