Incidental Mutation 'R2300:Ostf1'
| ID |
245318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ostf1
|
| Ensembl Gene |
ENSMUSG00000024725 |
| Gene Name |
osteoclast stimulating factor 1 |
| Synonyms |
Sh3d3, C78236, SH3P2 |
| MMRRC Submission |
040299-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2300 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
18557728-18609177 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18558644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 213
(D213G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025631]
|
| AlphaFold |
Q62422 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025631
AA Change: D213G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025631
Gene: ENSMUSG00000024725
AA Change: D213G
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
15 |
70 |
1.26e-22 |
SMART |
|
ANK
|
72 |
101 |
1.55e2 |
SMART |
|
ANK
|
105 |
135 |
1.77e-1 |
SMART |
|
ANK
|
139 |
168 |
5.62e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117398
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156908
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Osteoclast-stimulating factor-1 is an intracellular protein produced by osteoclasts that indirectly induces osteoclast formation and bone resorption (Reddy et al., 1998 [PubMed 10092216]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous knockout results in increased trabecular number and bone density in the femur and tibia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
G |
T |
8: 84,656,746 (GRCm39) |
E355* |
probably null |
Het |
| Aldh6a1 |
G |
T |
12: 84,486,303 (GRCm39) |
T205N |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 103,008,291 (GRCm39) |
I71V |
probably damaging |
Het |
| Arid2 |
A |
T |
15: 96,299,887 (GRCm39) |
E1800V |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Cd53 |
T |
C |
3: 106,670,572 (GRCm39) |
T154A |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,855,241 (GRCm39) |
A2157T |
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,622,432 (GRCm39) |
N544K |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,017,525 (GRCm39) |
E444G |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Gabrr1 |
A |
G |
4: 33,152,449 (GRCm39) |
K130E |
probably benign |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,938,235 (GRCm39) |
Y255C |
probably damaging |
Het |
| Kif11 |
A |
G |
19: 37,399,987 (GRCm39) |
T825A |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,963,316 (GRCm39) |
M1296K |
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,392,784 (GRCm39) |
C2760* |
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nolc1 |
CAG |
CAGAAG |
19: 46,069,798 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CAG |
CAGTAG |
19: 46,069,807 (GRCm39) |
|
probably benign |
Het |
| Nop16 |
A |
G |
13: 54,733,679 (GRCm39) |
|
probably null |
Het |
| Or2n1 |
T |
A |
17: 38,486,441 (GRCm39) |
Y155* |
probably null |
Het |
| Or5ak22 |
T |
C |
2: 85,230,476 (GRCm39) |
I134V |
probably benign |
Het |
| Slc28a2 |
C |
T |
2: 122,272,259 (GRCm39) |
Q34* |
probably null |
Het |
| St18 |
A |
G |
1: 6,925,626 (GRCm39) |
D928G |
probably damaging |
Het |
| Stag1 |
T |
C |
9: 100,594,553 (GRCm39) |
V31A |
possibly damaging |
Het |
| Tcl1b1 |
G |
A |
12: 105,130,783 (GRCm39) |
A89T |
probably benign |
Het |
| Tsen54 |
A |
T |
11: 115,712,904 (GRCm39) |
S464C |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,737,792 (GRCm39) |
F4249S |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,198,260 (GRCm39) |
F1209S |
probably damaging |
Het |
| Ylpm1 |
G |
A |
12: 85,107,093 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ostf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02152:Ostf1
|
APN |
19 |
18,567,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Ostf1
|
UTSW |
19 |
18,573,723 (GRCm39) |
missense |
probably benign |
|
|
R0730:Ostf1
|
UTSW |
19 |
18,581,571 (GRCm39) |
missense |
unknown |
|
|
R2403:Ostf1
|
UTSW |
19 |
18,562,026 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4685:Ostf1
|
UTSW |
19 |
18,558,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4724:Ostf1
|
UTSW |
19 |
18,571,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5369:Ostf1
|
UTSW |
19 |
18,558,689 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5444:Ostf1
|
UTSW |
19 |
18,558,677 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7103:Ostf1
|
UTSW |
19 |
18,573,715 (GRCm39) |
missense |
probably null |
0.06 |
|
R7738:Ostf1
|
UTSW |
19 |
18,562,065 (GRCm39) |
nonsense |
probably null |
|
|
R9516:Ostf1
|
UTSW |
19 |
18,573,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTTTATTTTACCCTGGTGAGC -3'
(R):5'- ATCTTGCTCTGCTGCTGGAG -3'
Sequencing Primer
(F):5'- CTTCACTTATTGGCAAGGCG -3'
(R):5'- GAGAAGAGGATCGTGTTTTCAATCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation