Incidental Mutation 'R1298:Spock1'
| ID |
158226 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spock1
|
| Ensembl Gene |
ENSMUSG00000056222 |
| Gene Name |
sparc/osteonectin, cwcv and kazal-like domains proteoglycan 1 |
| Synonyms |
testican 1, Ticn1 |
| MMRRC Submission |
039364-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1298 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
57569008-58056146 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 57660563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 180
(D180E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172326]
[ENSMUST00000185502]
[ENSMUST00000185905]
[ENSMUST00000186271]
[ENSMUST00000187852]
[ENSMUST00000189373]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172326
AA Change: D177E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128840
Gene: ENSMUSG00000056222
AA Change: D177E
| 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: D180E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140409
Gene: ENSMUSG00000056222
AA Change: D180E
| 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 benign
Transcript: ENSMUST00000185905
AA Change: D177E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186271
AA Change: D177E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140755
Gene: ENSMUSG00000056222
AA Change: D177E
| 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: D177E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141130
Gene: ENSMUSG00000056222
AA Change: D177E
| 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: D180E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000139863
Gene: ENSMUSG00000056222
AA Change: D180E
| 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 |
|
| Meta Mutation Damage Score |
0.0730 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.1%
|
| Validation Efficiency |
100% (38/38) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
A |
G |
6: 116,404,225 (GRCm39) |
W145R |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,385,157 (GRCm39) |
V267D |
probably benign |
Het |
| Bbs4 |
A |
T |
9: 59,247,096 (GRCm39) |
W135R |
probably damaging |
Het |
| Cavin4 |
T |
C |
4: 48,672,593 (GRCm39) |
V346A |
probably benign |
Het |
| Cdk18 |
A |
C |
1: 132,050,189 (GRCm39) |
|
probably benign |
Het |
| Cyp2j11 |
C |
T |
4: 96,195,497 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,136,118 (GRCm39) |
I1007K |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,852,752 (GRCm39) |
E118G |
probably benign |
Het |
| Eef2 |
C |
CN |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Eif1ad5 |
T |
A |
12: 87,946,853 (GRCm39) |
D98E |
probably benign |
Het |
| Gm14496 |
T |
C |
2: 181,637,885 (GRCm39) |
F320L |
probably benign |
Het |
| Gsdmc3 |
A |
T |
15: 63,732,130 (GRCm39) |
L299M |
probably damaging |
Het |
| H6pd |
T |
C |
4: 150,066,971 (GRCm39) |
I472V |
probably benign |
Het |
| Hao2 |
G |
T |
3: 98,790,985 (GRCm39) |
T63K |
possibly damaging |
Het |
| Jag2 |
C |
T |
12: 112,879,939 (GRCm39) |
|
probably benign |
Het |
| Mapre3 |
A |
G |
5: 31,022,211 (GRCm39) |
Y211C |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,393,334 (GRCm39) |
S2966P |
probably damaging |
Het |
| Nsd3 |
T |
A |
8: 26,169,952 (GRCm39) |
V696E |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,945,723 (GRCm39) |
Y4163H |
possibly damaging |
Het |
| Or11h4b |
A |
T |
14: 50,918,337 (GRCm39) |
Y251* |
probably null |
Het |
| Or12e8 |
G |
A |
2: 87,188,414 (GRCm39) |
A209T |
probably benign |
Het |
| Or6c3 |
G |
T |
10: 129,308,933 (GRCm39) |
C124F |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,156,409 (GRCm39) |
E607G |
probably benign |
Het |
| Pinlyp |
T |
A |
7: 24,244,391 (GRCm39) |
D51V |
probably damaging |
Het |
| Rcbtb2 |
T |
A |
14: 73,399,828 (GRCm39) |
I87N |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,618,442 (GRCm39) |
I459V |
probably benign |
Het |
| Slitrk6 |
T |
C |
14: 110,989,297 (GRCm39) |
N137D |
possibly damaging |
Het |
| Smg1 |
A |
T |
7: 117,767,434 (GRCm39) |
|
probably benign |
Het |
| Sobp |
T |
A |
10: 42,898,331 (GRCm39) |
H418L |
probably damaging |
Het |
| Upk3a |
G |
A |
15: 84,904,752 (GRCm39) |
V167I |
probably benign |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,572 (GRCm39) |
V245A |
possibly damaging |
Het |
| Zbtb25 |
T |
C |
12: 76,396,775 (GRCm39) |
E149G |
probably benign |
Het |
| Zgrf1 |
T |
C |
3: 127,377,538 (GRCm39) |
C44R |
possibly 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTACAGGCTGAACAGCTCTGTCAC -3'
(R):5'- CTTCACGGGTCACATAGAACTCCAC -3'
Sequencing Primer
(F):5'- ACAGCTCTGTCACAGCCTG -3'
(R):5'- GTTCTGAATGCCAGACTACTAGC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation