Incidental Mutation 'R4540:Sost'
| ID |
333503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sost
|
| Ensembl Gene |
ENSMUSG00000001494 |
| Gene Name |
sclerostin |
| Synonyms |
5430411E23Rik |
| MMRRC Submission |
041776-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R4540 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (43/43) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,508,119 (GRCm39) |
H164L |
probably damaging |
Het |
| Arrdc3 |
C |
A |
13: 81,038,790 (GRCm39) |
R31S |
possibly damaging |
Het |
| Baiap3 |
C |
T |
17: 25,465,644 (GRCm39) |
V585M |
probably damaging |
Het |
| Braf |
A |
G |
6: 39,621,267 (GRCm39) |
S391P |
probably damaging |
Het |
| Ccdc51 |
T |
C |
9: 108,921,288 (GRCm39) |
F392L |
possibly damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,904,012 (GRCm39) |
I194T |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,094,992 (GRCm39) |
K806E |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,652,709 (GRCm39) |
E726G |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,890,815 (GRCm39) |
Y384C |
unknown |
Het |
| Cops3 |
A |
T |
11: 59,720,980 (GRCm39) |
L145H |
probably damaging |
Het |
| Cul9 |
C |
T |
17: 46,814,015 (GRCm39) |
M2286I |
probably null |
Het |
| Echdc1 |
G |
A |
10: 29,220,578 (GRCm39) |
V245I |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,782,009 (GRCm39) |
M261L |
probably benign |
Het |
| Gm4353 |
A |
G |
7: 115,683,212 (GRCm39) |
L123P |
probably benign |
Het |
| Hcfc2 |
G |
C |
10: 82,568,481 (GRCm39) |
E42Q |
probably benign |
Het |
| Hfm1 |
A |
C |
5: 107,022,087 (GRCm39) |
Y199* |
probably null |
Het |
| Iba57 |
G |
A |
11: 59,053,904 (GRCm39) |
|
probably benign |
Het |
| Ihh |
T |
A |
1: 74,987,558 (GRCm39) |
N161I |
possibly damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,569,530 (GRCm39) |
S789P |
probably damaging |
Het |
| Kndc1 |
C |
A |
7: 139,501,343 (GRCm39) |
C877* |
probably null |
Het |
| Lhcgr |
A |
G |
17: 89,063,036 (GRCm39) |
I212T |
probably benign |
Het |
| Lrrtm2 |
T |
A |
18: 35,346,199 (GRCm39) |
T368S |
probably benign |
Het |
| Mag |
A |
C |
7: 30,600,154 (GRCm39) |
V500G |
probably damaging |
Het |
| Nadsyn1 |
A |
G |
7: 143,356,960 (GRCm39) |
V512A |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,442,725 (GRCm39) |
C759Y |
possibly damaging |
Het |
| Nup107 |
T |
C |
10: 117,597,925 (GRCm39) |
|
probably null |
Het |
| Or4c3d |
T |
C |
2: 89,882,494 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or4f56 |
T |
C |
2: 111,703,546 (GRCm39) |
Y218C |
probably damaging |
Het |
| Pcdha1 |
A |
C |
18: 37,064,680 (GRCm39) |
D448A |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,605,506 (GRCm39) |
|
probably null |
Het |
| Pth2r |
A |
G |
1: 65,321,360 (GRCm39) |
N13S |
probably benign |
Het |
| Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
A |
G |
5: 30,461,085 (GRCm39) |
D107G |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 99,995,697 (GRCm39) |
P1779S |
probably damaging |
Het |
| Supt3 |
T |
C |
17: 45,347,662 (GRCm39) |
V208A |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,115,063 (GRCm39) |
E365G |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,922,309 (GRCm39) |
T2374I |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,726,997 (GRCm39) |
I1T |
probably damaging |
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 |
|
R4464: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 |
|
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'- AATGTGTCCCTGCCCTGATG -3'
(R):5'- AACCGTATCTAGGCTGGACAC -3'
Sequencing Primer
(F):5'- TGCCCTGATGTAGCAGAGG -3'
(R):5'- TATCTAGGCTGGACACTGGAGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation