Incidental Mutation 'R4428:Sost'
ID |
328285 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sost
|
Ensembl Gene |
ENSMUSG00000001494 |
Gene Name |
sclerostin |
Synonyms |
5430411E23Rik |
MMRRC Submission |
041698-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.174)
|
Stock # |
R4428 (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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (46/46) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,263,164 (GRCm39) |
V708E |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Ccdc18 |
A |
G |
5: 108,283,943 (GRCm39) |
Y82C |
probably benign |
Het |
Cd82 |
T |
C |
2: 93,250,214 (GRCm39) |
Y266C |
probably damaging |
Het |
Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Cmpk1 |
T |
C |
4: 114,820,559 (GRCm39) |
E180G |
probably benign |
Het |
Dock8 |
T |
C |
19: 25,177,863 (GRCm39) |
I2066T |
probably damaging |
Het |
Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
Fgf3 |
T |
C |
7: 144,394,444 (GRCm39) |
V86A |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,561,759 (GRCm39) |
I916T |
probably benign |
Het |
Gsk3b |
T |
A |
16: 38,014,298 (GRCm39) |
L252Q |
probably damaging |
Het |
Kif18a |
A |
G |
2: 109,118,466 (GRCm39) |
T94A |
probably damaging |
Het |
Klhdc1 |
T |
A |
12: 69,315,000 (GRCm39) |
|
probably benign |
Het |
Klhl25 |
T |
A |
7: 75,515,162 (GRCm39) |
F23I |
probably damaging |
Het |
Mapk7 |
T |
C |
11: 61,380,055 (GRCm39) |
D701G |
possibly damaging |
Het |
Mbd5 |
A |
T |
2: 49,169,776 (GRCm39) |
Q47L |
possibly damaging |
Het |
Nrcam |
A |
G |
12: 44,623,558 (GRCm39) |
D1049G |
possibly damaging |
Het |
Olfml2a |
G |
T |
2: 38,831,755 (GRCm39) |
M111I |
probably damaging |
Het |
Or3a1c |
T |
C |
11: 74,046,025 (GRCm39) |
F15S |
probably damaging |
Het |
Pld2 |
A |
T |
11: 70,432,160 (GRCm39) |
H93L |
probably damaging |
Het |
Pomgnt2 |
T |
C |
9: 121,811,320 (GRCm39) |
E487G |
possibly damaging |
Het |
Psg17 |
G |
T |
7: 18,550,717 (GRCm39) |
N379K |
probably benign |
Het |
Rfk |
T |
A |
19: 17,375,959 (GRCm39) |
H84Q |
possibly damaging |
Het |
Scn8a |
A |
G |
15: 100,881,784 (GRCm39) |
Y617C |
probably damaging |
Het |
Sema3d |
T |
C |
5: 12,498,087 (GRCm39) |
F31S |
probably benign |
Het |
Shq1 |
T |
C |
6: 100,647,889 (GRCm39) |
Y45C |
probably damaging |
Het |
Siglecg |
C |
T |
7: 43,067,350 (GRCm39) |
P639L |
possibly damaging |
Het |
Skp2 |
A |
T |
15: 9,117,034 (GRCm39) |
N325K |
probably benign |
Het |
Sp8 |
T |
A |
12: 118,812,938 (GRCm39) |
S264R |
possibly damaging |
Het |
Sun1 |
T |
C |
5: 139,220,230 (GRCm39) |
|
probably benign |
Het |
Tardbp |
A |
G |
4: 148,709,659 (GRCm39) |
V54A |
possibly damaging |
Het |
Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmem68 |
A |
T |
4: 3,569,534 (GRCm39) |
I52K |
probably benign |
Het |
Trhde |
A |
T |
10: 114,339,028 (GRCm39) |
L594Q |
probably damaging |
Het |
Umps |
A |
C |
16: 33,781,956 (GRCm39) |
V322G |
probably damaging |
Het |
Vmn2r109 |
T |
C |
17: 20,773,286 (GRCm39) |
D445G |
probably benign |
Het |
Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
Vmn2r4 |
C |
T |
3: 64,322,590 (GRCm39) |
G43E |
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 |
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 |
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'- AAGGCAACCGTATCTAGGCTG -3'
Sequencing Primer
(F):5'- TGCCCTGATGTAGCAGAGG -3'
(R):5'- AACCGTATCTAGGCTGGACACTG -3'
|
Posted On |
2015-07-07 |