Incidental Mutation 'IGL02109:Ocstamp'
| ID |
281166 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ocstamp
|
| Ensembl Gene |
ENSMUSG00000027670 |
| Gene Name |
osteoclast stimulatory transmembrane protein |
| Synonyms |
4833422F24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02109
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
165237370-165242314 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 165239256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 310
(V310E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029213]
|
| AlphaFold |
Q9D611 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029213
AA Change: V310E
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029213
Gene: ENSMUSG00000027670
AA Change: V310E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
52 |
71 |
N/A |
INTRINSIC |
|
transmembrane domain
|
86 |
108 |
N/A |
INTRINSIC |
|
transmembrane domain
|
121 |
140 |
N/A |
INTRINSIC |
|
transmembrane domain
|
222 |
244 |
N/A |
INTRINSIC |
|
Pfam:DC_STAMP
|
253 |
445 |
1.5e-35 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is orthologous to the mouse osteoclast stimulatory transmembrane protein (OCSTAMP), which is a membrane-anchored cell surface receptor that promotes nucleation of osteoclasts. The mouse protein is also involved in bone resorption and osteoclast differentiation. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defective osteoclast fusion but normal skeletal paramaters. [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 |
|---|
| Ank1 |
T |
A |
8: 23,586,200 (GRCm39) |
N427K |
probably damaging |
Het |
| Ano10 |
C |
T |
9: 122,090,408 (GRCm39) |
E302K |
probably damaging |
Het |
| Arl3 |
T |
A |
19: 46,530,785 (GRCm39) |
|
probably benign |
Het |
| Clec14a |
T |
A |
12: 58,314,934 (GRCm39) |
E229D |
probably benign |
Het |
| Ctbp1 |
T |
C |
5: 33,424,312 (GRCm39) |
D26G |
probably damaging |
Het |
| Flt3 |
G |
T |
5: 147,287,491 (GRCm39) |
H671N |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,848,382 (GRCm39) |
D1799G |
probably benign |
Het |
| Il20ra |
G |
A |
10: 19,635,253 (GRCm39) |
G498D |
possibly damaging |
Het |
| Kcnu1 |
T |
G |
8: 26,427,727 (GRCm39) |
L348R |
possibly damaging |
Het |
| Lrpprc |
A |
T |
17: 85,033,998 (GRCm39) |
L999* |
probably null |
Het |
| Myt1 |
T |
G |
2: 181,457,410 (GRCm39) |
|
probably benign |
Het |
| N4bp2 |
C |
T |
5: 65,955,477 (GRCm39) |
T467M |
probably damaging |
Het |
| Nup98 |
T |
C |
7: 101,832,693 (GRCm39) |
T355A |
probably benign |
Het |
| Or4k39 |
T |
G |
2: 111,238,838 (GRCm39) |
|
noncoding transcript |
Het |
| Or8b3 |
T |
C |
9: 38,314,382 (GRCm39) |
F71L |
possibly damaging |
Het |
| Plcb1 |
C |
A |
2: 134,628,479 (GRCm39) |
H9Q |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,192,576 (GRCm39) |
Q795L |
probably benign |
Het |
| Pms1 |
A |
G |
1: 53,246,568 (GRCm39) |
S324P |
probably damaging |
Het |
| Pnldc1 |
G |
T |
17: 13,124,425 (GRCm39) |
H143Q |
probably benign |
Het |
| Ppp1r12b |
A |
G |
1: 134,800,543 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,779,502 (GRCm39) |
F250L |
probably benign |
Het |
| Scgn |
T |
C |
13: 24,137,948 (GRCm39) |
D241G |
possibly damaging |
Het |
| St8sia4 |
T |
C |
1: 95,588,617 (GRCm39) |
I73V |
possibly damaging |
Het |
| Tle3 |
T |
A |
9: 61,320,332 (GRCm39) |
C595S |
probably damaging |
Het |
| Tmem209 |
T |
C |
6: 30,497,944 (GRCm39) |
Y117C |
probably damaging |
Het |
| Tshr |
T |
A |
12: 91,504,766 (GRCm39) |
I568N |
probably damaging |
Het |
| Ttll10 |
C |
T |
4: 156,131,937 (GRCm39) |
D22N |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,640,202 (GRCm39) |
V13802E |
probably damaging |
Het |
|
| Other mutations in Ocstamp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02207:Ocstamp
|
APN |
2 |
165,239,583 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02863:Ocstamp
|
APN |
2 |
165,239,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Ocstamp
|
UTSW |
2 |
165,237,912 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0402:Ocstamp
|
UTSW |
2 |
165,238,184 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0590:Ocstamp
|
UTSW |
2 |
165,239,671 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0624:Ocstamp
|
UTSW |
2 |
165,239,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1385:Ocstamp
|
UTSW |
2 |
165,237,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1657:Ocstamp
|
UTSW |
2 |
165,239,436 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1696:Ocstamp
|
UTSW |
2 |
165,238,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4371:Ocstamp
|
UTSW |
2 |
165,239,233 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4746:Ocstamp
|
UTSW |
2 |
165,238,208 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4815:Ocstamp
|
UTSW |
2 |
165,240,102 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5979:Ocstamp
|
UTSW |
2 |
165,239,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6821:Ocstamp
|
UTSW |
2 |
165,239,842 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7084:Ocstamp
|
UTSW |
2 |
165,239,957 (GRCm39) |
nonsense |
probably null |
|
|
R7171:Ocstamp
|
UTSW |
2 |
165,240,081 (GRCm39) |
missense |
probably benign |
|
|
R7313:Ocstamp
|
UTSW |
2 |
165,239,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8162:Ocstamp
|
UTSW |
2 |
165,239,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9138:Ocstamp
|
UTSW |
2 |
165,237,864 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9279:Ocstamp
|
UTSW |
2 |
165,237,768 (GRCm39) |
makesense |
probably null |
|
|
Z1088:Ocstamp
|
UTSW |
2 |
165,237,838 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Posted On |
2015-04-16 |
Incidental Mutation