Incidental Mutation 'R4480:Sostdc1'
| ID |
331440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sostdc1
|
| Ensembl Gene |
ENSMUSG00000036169 |
| Gene Name |
sclerostin domain containing 1 |
| Synonyms |
ectodin, Wise, Sostl, USAG-1 |
| MMRRC Submission |
041737-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.580)
|
| Stock # |
R4480 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
36314139-36318452 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36317166 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 114
(I114V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041407]
|
| AlphaFold |
Q9CQN4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041407
AA Change: I114V
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040230
Gene: ENSMUSG00000036169
AA Change: I114V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sclerostin
|
6 |
206 |
2.1e-112 |
PFAM |
|
Pfam:DAN
|
47 |
168 |
3.2e-17 |
PFAM |
|
Pfam:Cys_knot
|
72 |
185 |
1.2e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.1807 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
95% (40/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene cause variable defects in many aspects of tooth development, including tooth number, size and cusp pattern. Observed phenotypes may include cranial and palatal defects, neonatal death, altered trigeminal ganglion morphology, and resistance to cisplatin-induced renal injury. [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 |
|---|
| Abcc6 |
T |
C |
7: 46,005,239 (GRCm38) |
T553A |
possibly damaging |
Het |
| Adgrb3 |
A |
T |
1: 25,111,748 (GRCm38) |
F1135I |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,600,600 (GRCm38) |
F1490L |
probably damaging |
Het |
| Begain |
A |
G |
12: 109,034,123 (GRCm38) |
Y446H |
probably damaging |
Het |
| Cdh15 |
A |
G |
8: 122,864,676 (GRCm38) |
H517R |
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,815,489 (GRCm38) |
Q703R |
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,302,503 (GRCm38) |
H187N |
possibly damaging |
Het |
| Dip2b |
C |
T |
15: 100,186,301 (GRCm38) |
T935M |
probably damaging |
Het |
| Eif2s2 |
T |
C |
2: 154,888,270 (GRCm38) |
T36A |
probably benign |
Het |
| Eif4g1 |
G |
T |
16: 20,678,843 (GRCm38) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,998,271 (GRCm38) |
S2145F |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,048,470 (GRCm38) |
Y555C |
probably damaging |
Het |
| Fpr2 |
C |
T |
17: 17,893,753 (GRCm38) |
T337I |
probably benign |
Het |
| Frem3 |
A |
T |
8: 80,611,357 (GRCm38) |
Q93L |
probably benign |
Het |
| Gapdh |
A |
G |
6: 125,163,182 (GRCm38) |
V119A |
possibly damaging |
Het |
| Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,391,372 (GRCm38) |
I769V |
probably benign |
Het |
| Ifne |
T |
C |
4: 88,879,601 (GRCm38) |
*193W |
probably null |
Het |
| Katna1 |
T |
C |
10: 7,738,830 (GRCm38) |
V32A |
probably damaging |
Het |
| Nup107 |
T |
C |
10: 117,761,332 (GRCm38) |
I673V |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,322,129 (GRCm38) |
|
probably benign |
Het |
| Obscn |
T |
C |
11: 59,131,646 (GRCm38) |
R758G |
possibly damaging |
Het |
| Or10g1 |
G |
A |
14: 52,410,308 (GRCm38) |
A188V |
probably damaging |
Het |
| Or2t48 |
G |
T |
11: 58,529,801 (GRCm38) |
P62T |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,320,752 (GRCm38) |
S62T |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,526,479 (GRCm38) |
V44A |
probably damaging |
Het |
| Psg18 |
C |
T |
7: 18,350,862 (GRCm38) |
S103N |
probably benign |
Het |
| Ptprcap |
A |
G |
19: 4,156,224 (GRCm38) |
E102G |
probably benign |
Het |
| Ptprs |
A |
G |
17: 56,426,404 (GRCm38) |
V804A |
possibly damaging |
Het |
| Rab35 |
C |
A |
5: 115,637,764 (GRCm38) |
S34* |
probably null |
Het |
| Slco6d1 |
T |
A |
1: 98,507,574 (GRCm38) |
Y671* |
probably null |
Het |
| Tecta |
A |
G |
9: 42,373,233 (GRCm38) |
F852S |
possibly damaging |
Het |
| Tmem179 |
T |
C |
12: 112,503,303 (GRCm38) |
E21G |
probably benign |
Het |
| Usp17la |
T |
A |
7: 104,860,690 (GRCm38) |
H167Q |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,545,236 (GRCm38) |
|
probably benign |
Het |
| Wdr17 |
A |
G |
8: 54,664,964 (GRCm38) |
|
probably null |
Het |
| Wdr73 |
T |
C |
7: 80,893,221 (GRCm38) |
E213G |
probably benign |
Het |
| Zfp985 |
A |
G |
4: 147,584,079 (GRCm38) |
D468G |
probably benign |
Het |
|
| Other mutations in Sostdc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01954:Sostdc1
|
APN |
12 |
36,317,122 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0588:Sostdc1
|
UTSW |
12 |
36,317,021 (GRCm38) |
splice site |
probably benign |
|
|
R0671:Sostdc1
|
UTSW |
12 |
36,317,341 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2184:Sostdc1
|
UTSW |
12 |
36,317,296 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4320:Sostdc1
|
UTSW |
12 |
36,317,420 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5511:Sostdc1
|
UTSW |
12 |
36,317,166 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5589:Sostdc1
|
UTSW |
12 |
36,317,247 (GRCm38) |
nonsense |
probably null |
|
|
R5665:Sostdc1
|
UTSW |
12 |
36,314,408 (GRCm38) |
missense |
probably benign |
0.39 |
|
R6453:Sostdc1
|
UTSW |
12 |
36,314,408 (GRCm38) |
missense |
probably benign |
0.39 |
|
R6752:Sostdc1
|
UTSW |
12 |
36,314,412 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7232:Sostdc1
|
UTSW |
12 |
36,317,311 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8810:Sostdc1
|
UTSW |
12 |
36,317,230 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9019:Sostdc1
|
UTSW |
12 |
36,314,432 (GRCm38) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCCTGATGCAGTTCTGTC -3'
(R):5'- AGCTCAGACTGTGCTTGCTG -3'
Sequencing Primer
(F):5'- CCTGTTTCCTGCAGGTCGAG -3'
(R):5'- ACACGCTTTCAAAGTTGTGGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation