Incidental Mutation 'IGL03307:Spock1'
| ID |
416417 |
| 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 # |
IGL03307
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
57569008-58056146 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57577160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 423
(D423G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172326]
[ENSMUST00000185502]
[ENSMUST00000186271]
[ENSMUST00000187852]
[ENSMUST00000189373]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000172326
AA Change: D423G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128840
Gene: ENSMUSG00000056222
AA Change: D423G
| 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 damaging
Transcript: ENSMUST00000185502
AA Change: D426G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140409
Gene: ENSMUSG00000056222
AA Change: D426G
| 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 |
probably damaging
Transcript: ENSMUST00000186271
AA Change: D423G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140755
Gene: ENSMUSG00000056222
AA Change: D423G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000141130
Gene: ENSMUSG00000056222
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139863
Gene: ENSMUSG00000056222
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
T |
C |
12: 88,425,823 (GRCm39) |
I417T |
possibly damaging |
Het |
| Arrdc1 |
A |
T |
2: 24,816,354 (GRCm39) |
I205N |
probably damaging |
Het |
| Atp6v1a |
A |
G |
16: 43,931,922 (GRCm39) |
V122A |
possibly damaging |
Het |
| Atp8a2 |
A |
G |
14: 60,253,321 (GRCm39) |
|
probably null |
Het |
| Cdh18 |
A |
G |
15: 23,226,872 (GRCm39) |
H111R |
probably damaging |
Het |
| Cpsf3 |
T |
A |
12: 21,346,715 (GRCm39) |
I196N |
possibly damaging |
Het |
| Cyp2b9 |
C |
T |
7: 25,898,476 (GRCm39) |
S277L |
probably benign |
Het |
| Grik3 |
T |
C |
4: 125,535,347 (GRCm39) |
M248T |
possibly damaging |
Het |
| Gusb |
T |
C |
5: 130,028,872 (GRCm39) |
*145W |
probably null |
Het |
| Il18rap |
T |
C |
1: 40,582,227 (GRCm39) |
Y383H |
probably benign |
Het |
| Lama4 |
T |
C |
10: 38,893,379 (GRCm39) |
V162A |
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,410,155 (GRCm39) |
M308L |
probably benign |
Het |
| Or52s1b |
C |
T |
7: 102,822,623 (GRCm39) |
V74I |
probably benign |
Het |
| Or8g27 |
A |
T |
9: 39,129,309 (GRCm39) |
I219F |
probably benign |
Het |
| Postn |
A |
G |
3: 54,282,548 (GRCm39) |
D503G |
probably benign |
Het |
| Robo3 |
A |
T |
9: 37,333,860 (GRCm39) |
V658D |
probably damaging |
Het |
| Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
| Setd1b |
C |
A |
5: 123,286,734 (GRCm39) |
D593E |
unknown |
Het |
| Slc2a13 |
C |
T |
15: 91,160,317 (GRCm39) |
V546M |
probably damaging |
Het |
| Stox2 |
T |
C |
8: 47,647,065 (GRCm39) |
T132A |
probably damaging |
Het |
| Tle2 |
T |
C |
10: 81,426,074 (GRCm39) |
S703P |
probably damaging |
Het |
| Trgc1 |
A |
G |
13: 19,398,528 (GRCm39) |
|
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,580,304 (GRCm39) |
I750T |
possibly damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,577,038 (GRCm39) |
K345N |
probably benign |
Het |
| Vmn2r60 |
T |
C |
7: 41,765,971 (GRCm39) |
V26A |
probably benign |
Het |
| Vmn2r98 |
G |
A |
17: 19,286,242 (GRCm39) |
V247I |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,472,287 (GRCm39) |
V153A |
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 |
|
|
IGL00491:Spock1
|
APN |
13 |
57,704,619 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation