Incidental Mutation 'IGL00335:Sost'
ID |
6017 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sost
|
Ensembl Gene |
ENSMUSG00000001494 |
Gene Name |
sclerostin |
Synonyms |
5430411E23Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.174)
|
Stock # |
IGL00335
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
101853284-101857841 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101857705 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 32
(D32G)
|
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: D32G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000001534 Gene: ENSMUSG00000001494 AA Change: D32G
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700048O20Rik |
C |
A |
9: 121,769,833 (GRCm39) |
|
noncoding transcript |
Het |
4930579F01Rik |
C |
A |
3: 137,891,959 (GRCm39) |
|
probably benign |
Het |
Aurkc |
T |
A |
7: 6,999,547 (GRCm39) |
I18N |
probably damaging |
Het |
Bace1 |
T |
C |
9: 45,750,588 (GRCm39) |
|
probably null |
Het |
Chrne |
C |
T |
11: 70,506,588 (GRCm39) |
V311I |
probably benign |
Het |
Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
Cyp2c70 |
C |
T |
19: 40,156,020 (GRCm39) |
V177M |
probably damaging |
Het |
Dusp10 |
A |
G |
1: 183,801,328 (GRCm39) |
E365G |
probably benign |
Het |
Fcgbp |
C |
A |
7: 27,785,560 (GRCm39) |
N332K |
possibly damaging |
Het |
Irx4 |
T |
C |
13: 73,416,810 (GRCm39) |
V402A |
probably benign |
Het |
Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Lama3 |
A |
G |
18: 12,582,645 (GRCm39) |
|
probably benign |
Het |
Lhfpl7 |
A |
G |
5: 113,383,869 (GRCm39) |
R96G |
probably benign |
Het |
Lrrc8b |
T |
C |
5: 105,628,365 (GRCm39) |
I237T |
probably damaging |
Het |
Mepe |
G |
T |
5: 104,485,843 (GRCm39) |
G328C |
probably damaging |
Het |
Numb |
A |
G |
12: 83,854,906 (GRCm39) |
I129T |
probably damaging |
Het |
Or5h25 |
T |
C |
16: 58,930,961 (GRCm39) |
D4G |
probably benign |
Het |
Or6c209 |
T |
C |
10: 129,483,306 (GRCm39) |
I103T |
probably benign |
Het |
Osmr |
T |
C |
15: 6,866,504 (GRCm39) |
D390G |
probably benign |
Het |
Pglyrp3 |
G |
A |
3: 91,929,986 (GRCm39) |
V51I |
probably damaging |
Het |
Phactr2 |
T |
C |
10: 13,121,279 (GRCm39) |
T470A |
probably damaging |
Het |
Psmg1 |
G |
A |
16: 95,781,268 (GRCm39) |
T259I |
possibly damaging |
Het |
Rtl3 |
T |
C |
X: 105,882,543 (GRCm39) |
T240A |
probably benign |
Het |
Ryr1 |
C |
T |
7: 28,824,385 (GRCm39) |
|
probably null |
Het |
Slc10a6 |
A |
G |
5: 103,756,991 (GRCm39) |
S258P |
probably benign |
Het |
Slc1a6 |
T |
C |
10: 78,637,647 (GRCm39) |
L391P |
probably damaging |
Het |
Slc6a7 |
C |
T |
18: 61,134,681 (GRCm39) |
V465M |
possibly damaging |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Tifab |
A |
G |
13: 56,324,282 (GRCm39) |
S54P |
probably damaging |
Het |
Tnrc6a |
T |
A |
7: 122,770,003 (GRCm39) |
S598T |
probably benign |
Het |
Vmn2r1 |
T |
A |
3: 64,012,809 (GRCm39) |
I890N |
probably damaging |
Het |
Wapl |
A |
G |
14: 34,414,593 (GRCm39) |
D485G |
probably benign |
Het |
Wee2 |
A |
T |
6: 40,438,995 (GRCm39) |
I373F |
probably damaging |
Het |
Xkr6 |
A |
G |
14: 64,056,664 (GRCm39) |
T192A |
probably damaging |
Het |
Zfp638 |
A |
G |
6: 83,956,700 (GRCm39) |
D1769G |
probably damaging |
Het |
|
Other mutations in Sost |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2012-04-20 |