Incidental Mutation 'R4464:Sost'
| ID |
330279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sost
|
| Ensembl Gene |
ENSMUSG00000001494 |
| Gene Name |
sclerostin |
| Synonyms |
5430411E23Rik |
| MMRRC Submission |
041722-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R4464 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
101853284-101857841 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101857670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 44
(P44S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001534]
[ENSMUST00000003612]
[ENSMUST00000107172]
[ENSMUST00000107173]
[ENSMUST00000151678]
|
| AlphaFold |
Q99P68 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001534
AA Change: P44S
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000001534
Gene: ENSMUSG00000001494
AA Change: P44S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sclerostin
|
1 |
208 |
8e-98 |
PFAM |
|
Pfam:DAN
|
51 |
168 |
1.2e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003612
|
| SMART Domains |
Protein: ENSMUSP00000003612
Gene: ENSMUSG00000003518
| Domain | Start | End | E-Value | Type |
|---|
|
DSPc
|
29 |
176 |
8.04e-58 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107172
|
| SMART Domains |
Protein: ENSMUSP00000102790
Gene: ENSMUSG00000003518
| Domain | Start | End | E-Value | Type |
|---|
|
DSPc
|
29 |
176 |
8.04e-58 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107173
|
| SMART Domains |
Protein: ENSMUSP00000102791
Gene: ENSMUSG00000003518
| Domain | Start | End | E-Value | Type |
|---|
|
DSPc
|
54 |
201 |
8.04e-58 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151678
|
| SMART Domains |
Protein: ENSMUSP00000135384
Gene: ENSMUSG00000003518
| Domain | Start | End | E-Value | Type |
|---|
|
DSPc
|
3 |
108 |
6.99e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176599
|
| Meta Mutation Damage Score |
0.3937 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit an increase in trabecular and cortical bone volume, mineral density, and formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Abcc3 |
A |
G |
11: 94,249,612 (GRCm39) |
V1111A |
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,665,830 (GRCm39) |
R304* |
probably null |
Het |
| Aldh8a1 |
C |
A |
10: 21,264,840 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,597,003 (GRCm39) |
T1079A |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,253,470 (GRCm39) |
Y204H |
probably damaging |
Het |
| Asnsd1 |
C |
A |
1: 53,391,686 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
A |
11: 79,991,137 (GRCm39) |
|
probably null |
Het |
| Cst12 |
G |
A |
2: 148,631,437 (GRCm39) |
V53I |
possibly damaging |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| Dennd1a |
A |
T |
2: 38,133,402 (GRCm39) |
|
probably benign |
Het |
| Gm7535 |
C |
A |
17: 18,131,924 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| Ifngr1 |
G |
A |
10: 19,473,265 (GRCm39) |
V72I |
possibly damaging |
Het |
| Kifap3 |
C |
A |
1: 163,645,464 (GRCm39) |
Q269K |
probably benign |
Het |
| Krt86 |
G |
A |
15: 101,371,795 (GRCm39) |
D122N |
probably damaging |
Het |
| Lrrcc1 |
A |
G |
3: 14,622,378 (GRCm39) |
K694E |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,826,463 (GRCm39) |
L155S |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,560,762 (GRCm39) |
N772D |
probably benign |
Het |
| Or12d17 |
C |
T |
17: 37,777,742 (GRCm39) |
S215F |
probably damaging |
Het |
| Prxl2a |
T |
A |
14: 40,719,832 (GRCm39) |
K127N |
probably damaging |
Het |
| Psg29 |
A |
T |
7: 16,944,575 (GRCm39) |
N362Y |
possibly damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,215,881 (GRCm39) |
T1325I |
probably damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,911,731 (GRCm39) |
N52S |
possibly damaging |
Het |
| Rb1 |
C |
A |
14: 73,436,638 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
T |
C |
5: 53,226,524 (GRCm39) |
L490P |
probably damaging |
Het |
| St3gal2 |
A |
G |
8: 111,694,134 (GRCm39) |
N207D |
probably benign |
Het |
| Stat1 |
T |
G |
1: 52,176,575 (GRCm39) |
D257E |
possibly damaging |
Het |
| Tkt |
A |
G |
14: 30,290,231 (GRCm39) |
T165A |
possibly damaging |
Het |
| Trim66 |
A |
T |
7: 109,076,897 (GRCm39) |
S347R |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,538,617 (GRCm39) |
I276V |
probably benign |
Het |
|
| Other mutations in Sost |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:Sost
|
APN |
11 |
101,857,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02487:Sost
|
APN |
11 |
101,857,633 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02967:Sost
|
APN |
11 |
101,855,084 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0724:Sost
|
UTSW |
11 |
101,857,744 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1873:Sost
|
UTSW |
11 |
101,855,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2182:Sost
|
UTSW |
11 |
101,854,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3429:Sost
|
UTSW |
11 |
101,854,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4428:Sost
|
UTSW |
11 |
101,857,670 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4430:Sost
|
UTSW |
11 |
101,857,670 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4537:Sost
|
UTSW |
11 |
101,857,670 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4539:Sost
|
UTSW |
11 |
101,857,670 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4540:Sost
|
UTSW |
11 |
101,857,670 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4541:Sost
|
UTSW |
11 |
101,857,670 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4542:Sost
|
UTSW |
11 |
101,857,670 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4710:Sost
|
UTSW |
11 |
101,857,670 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5125:Sost
|
UTSW |
11 |
101,854,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7297:Sost
|
UTSW |
11 |
101,854,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7779:Sost
|
UTSW |
11 |
101,857,675 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9617:Sost
|
UTSW |
11 |
101,854,892 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
RF013:Sost
|
UTSW |
11 |
101,854,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGTCCCTGCCCTGATGTAG -3'
(R):5'- CAACCGTATCTAGGCTGGAC -3'
Sequencing Primer
(F):5'- TGCCCTGATGTAGCAGAGG -3'
(R):5'- TATCTAGGCTGGACACTGGAGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation