Incidental Mutation 'R4371:Ocstamp'
| ID |
325986 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ocstamp
|
| Ensembl Gene |
ENSMUSG00000027670 |
| Gene Name |
osteoclast stimulatory transmembrane protein |
| Synonyms |
4833422F24Rik |
| MMRRC Submission |
041117-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4371 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
165237370-165242314 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 165239233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 318
(S318P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029213]
|
| AlphaFold |
Q9D611 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029213
AA Change: S318P
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029213
Gene: ENSMUSG00000027670
AA Change: S318P
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Alox12b |
G |
A |
11: 69,060,442 (GRCm39) |
R666H |
possibly damaging |
Het |
| Atp9a |
T |
C |
2: 168,491,535 (GRCm39) |
T677A |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bckdk |
C |
T |
7: 127,505,591 (GRCm39) |
A238V |
probably benign |
Het |
| Brpf3 |
C |
T |
17: 29,055,594 (GRCm39) |
A1181V |
probably damaging |
Het |
| C9 |
A |
G |
15: 6,520,965 (GRCm39) |
D470G |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,215,701 (GRCm39) |
F337L |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,454,967 (GRCm39) |
R278W |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,079,290 (GRCm39) |
K287R |
probably damaging |
Het |
| Chfr |
G |
A |
5: 110,284,034 (GRCm39) |
R36H |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,232 (GRCm39) |
N261S |
probably benign |
Het |
| Drp2 |
A |
T |
X: 133,335,884 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,763,818 (GRCm39) |
|
probably null |
Het |
| Emb |
A |
T |
13: 117,405,466 (GRCm39) |
D296V |
probably damaging |
Het |
| Epha1 |
T |
C |
6: 42,342,391 (GRCm39) |
Y319C |
probably damaging |
Het |
| Flcn |
C |
T |
11: 59,694,610 (GRCm39) |
V121I |
possibly damaging |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
| Gm6177 |
A |
T |
1: 160,720,741 (GRCm39) |
|
noncoding transcript |
Het |
| Hepacam2 |
A |
T |
6: 3,486,988 (GRCm39) |
V123E |
probably damaging |
Het |
| Iqsec1 |
A |
G |
6: 90,671,588 (GRCm39) |
S194P |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,401,945 (GRCm39) |
I438T |
possibly damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,210,251 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
A |
T |
1: 60,329,105 (GRCm39) |
K2174N |
possibly damaging |
Het |
| Ncapg |
G |
A |
5: 45,835,797 (GRCm39) |
M409I |
probably benign |
Het |
| Or5p79 |
C |
T |
7: 108,221,096 (GRCm39) |
L26F |
probably benign |
Het |
| Phactr2 |
A |
G |
10: 13,129,564 (GRCm39) |
S235P |
probably damaging |
Het |
| Pom121l2 |
T |
C |
13: 22,166,409 (GRCm39) |
S227P |
probably benign |
Het |
| Sdf2 |
C |
T |
11: 78,141,863 (GRCm39) |
T66I |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,896,475 (GRCm39) |
C729R |
probably damaging |
Het |
| Sys1 |
T |
C |
2: 164,303,315 (GRCm39) |
W10R |
probably damaging |
Het |
| Tfap4 |
A |
G |
16: 4,369,863 (GRCm39) |
I4T |
probably damaging |
Het |
| Thrb |
C |
A |
14: 18,030,275 (GRCm38) |
Q340K |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,888,588 (GRCm39) |
Y1735C |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,725,547 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ocstamp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02109:Ocstamp
|
APN |
2 |
165,239,256 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAGGATAATGACTCCCAGGC -3'
(R):5'- GCGTTTCGACAATATCTACGCG -3'
Sequencing Primer
(F):5'- TGACTCCCAGGCAAGCAAATATAG -3'
(R):5'- TTCGACAATATCTACGCGACTCGG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation