Incidental Mutation 'IGL00491:Spock1'
| ID |
14226 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spock1
|
| Ensembl Gene |
ENSMUSG00000056222 |
| Gene Name |
sparc/osteonectin, cwcv and kazal-like domains proteoglycan 1 |
| Synonyms |
testican 1, Ticn1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00491
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
57569008-58056146 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 57704619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 116
(R116S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172326]
[ENSMUST00000185502]
[ENSMUST00000185905]
[ENSMUST00000186271]
[ENSMUST00000187852]
[ENSMUST00000189373]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172326
AA Change: R116S
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128840
Gene: ENSMUSG00000056222
AA Change: R116S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
42 |
N/A |
INTRINSIC |
|
KAZAL
|
135 |
180 |
3.67e-12 |
SMART |
|
Pfam:SPARC_Ca_bdg
|
195 |
304 |
6e-35 |
PFAM |
|
TY
|
334 |
380 |
9.64e-21 |
SMART |
|
low complexity region
|
394 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185502
AA Change: R119S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000140409
Gene: ENSMUSG00000056222
AA Change: R119S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
42 |
N/A |
INTRINSIC |
|
KAZAL
|
138 |
183 |
3.67e-12 |
SMART |
|
Pfam:SPARC_Ca_bdg
|
198 |
307 |
3.1e-33 |
PFAM |
|
TY
|
337 |
383 |
9.64e-21 |
SMART |
|
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
437 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185905
AA Change: R116S
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186271
AA Change: R116S
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140755
Gene: ENSMUSG00000056222
AA Change: R116S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
42 |
N/A |
INTRINSIC |
|
KAZAL
|
135 |
180 |
3.67e-12 |
SMART |
|
Pfam:SPARC_Ca_bdg
|
195 |
304 |
3.1e-33 |
PFAM |
|
TY
|
334 |
380 |
9.64e-21 |
SMART |
|
low complexity region
|
394 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187852
AA Change: R116S
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141130
Gene: ENSMUSG00000056222
AA Change: R116S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
42 |
N/A |
INTRINSIC |
|
KAZAL
|
135 |
180 |
3.67e-12 |
SMART |
|
Pfam:SPARC_Ca_bdg
|
195 |
304 |
2.2e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189373
AA Change: R119S
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139863
Gene: ENSMUSG00000056222
AA Change: R119S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
42 |
N/A |
INTRINSIC |
|
KAZAL
|
138 |
183 |
3.67e-12 |
SMART |
|
Pfam:SPARC_Ca_bdg
|
198 |
307 |
1.3e-33 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the protein core of a seminal plasma proteoglycan containing chondroitin- and heparan-sulfate chains. The protein's function is unknown, although similarity to thyropin-type cysteine protease-inhibitors suggests its function may be related to protease inhibition. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation display no obvious morphological or behavioral abnormalities, are fertile, and have normal life spans. Adult homozygotes exhibit normal brain morphology and EEG recordings. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
T |
15: 94,171,113 (GRCm39) |
S1870Y |
possibly damaging |
Het |
| Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
| Ccdc7a |
A |
G |
8: 129,753,235 (GRCm39) |
|
probably benign |
Het |
| Col13a1 |
T |
A |
10: 61,699,784 (GRCm39) |
|
probably null |
Het |
| Dgkq |
A |
G |
5: 108,802,448 (GRCm39) |
S417P |
possibly damaging |
Het |
| Dnah1 |
A |
G |
14: 30,983,796 (GRCm39) |
Y4016H |
probably damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,313,713 (GRCm39) |
V136A |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,792,827 (GRCm39) |
T944A |
probably damaging |
Het |
| Gm10351 |
A |
T |
7: 42,749,217 (GRCm39) |
|
noncoding transcript |
Het |
| Mettl9 |
T |
A |
7: 120,651,336 (GRCm39) |
V17E |
probably damaging |
Het |
| Msh5 |
A |
G |
17: 35,249,706 (GRCm39) |
V613A |
probably damaging |
Het |
| Nup54 |
T |
A |
5: 92,565,344 (GRCm39) |
I458L |
probably benign |
Het |
| Oxct1 |
A |
G |
15: 4,125,996 (GRCm39) |
N365D |
probably damaging |
Het |
| Patl1 |
T |
A |
19: 11,907,251 (GRCm39) |
N378K |
probably benign |
Het |
| Plcl1 |
T |
C |
1: 55,752,657 (GRCm39) |
|
probably null |
Het |
| Polk |
A |
T |
13: 96,633,268 (GRCm39) |
D258E |
probably benign |
Het |
| Ppm1f |
T |
C |
16: 16,741,777 (GRCm39) |
L417P |
probably benign |
Het |
| Rnf133 |
T |
C |
6: 23,649,255 (GRCm39) |
I225V |
probably benign |
Het |
| Robo4 |
A |
T |
9: 37,317,231 (GRCm39) |
K463N |
possibly damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,069,477 (GRCm39) |
D1019E |
probably damaging |
Het |
| Stambp |
G |
T |
6: 83,533,280 (GRCm39) |
L328I |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,010,889 (GRCm39) |
C598R |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,210,261 (GRCm39) |
|
probably benign |
Het |
| Tpra1 |
A |
G |
6: 88,887,390 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,800,418 (GRCm39) |
E544G |
probably damaging |
Het |
|
| Other mutations in Spock1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Spock1
|
APN |
13 |
57,735,552 (GRCm39) |
splice site |
probably benign |
|
|
IGL01942:Spock1
|
APN |
13 |
57,578,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01998:Spock1
|
APN |
13 |
57,583,994 (GRCm39) |
splice site |
probably benign |
|
|
IGL02428:Spock1
|
APN |
13 |
57,592,245 (GRCm39) |
splice site |
probably benign |
|
|
IGL02805:Spock1
|
APN |
13 |
58,055,391 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02814:Spock1
|
APN |
13 |
57,735,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03307:Spock1
|
APN |
13 |
57,577,160 (GRCm39) |
missense |
probably null |
1.00 |
|
R0227:Spock1
|
UTSW |
13 |
57,588,290 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0243:Spock1
|
UTSW |
13 |
57,583,922 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0393:Spock1
|
UTSW |
13 |
57,588,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1298:Spock1
|
UTSW |
13 |
57,660,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1393:Spock1
|
UTSW |
13 |
58,055,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Spock1
|
UTSW |
13 |
57,577,182 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1467:Spock1
|
UTSW |
13 |
57,577,182 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2134:Spock1
|
UTSW |
13 |
57,583,952 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4386:Spock1
|
UTSW |
13 |
57,588,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5524:Spock1
|
UTSW |
13 |
57,704,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5765:Spock1
|
UTSW |
13 |
57,577,217 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7195:Spock1
|
UTSW |
13 |
58,055,316 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7446:Spock1
|
UTSW |
13 |
57,583,898 (GRCm39) |
missense |
unknown |
|
|
R7701:Spock1
|
UTSW |
13 |
57,735,472 (GRCm39) |
nonsense |
probably null |
|
|
R8067:Spock1
|
UTSW |
13 |
57,843,984 (GRCm39) |
splice site |
probably null |
|
|
R8256:Spock1
|
UTSW |
13 |
57,588,257 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8990:Spock1
|
UTSW |
13 |
57,843,984 (GRCm39) |
splice site |
probably null |
|
|
R9085:Spock1
|
UTSW |
13 |
57,570,956 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation