Incidental Mutation 'R1393:Spock1'
| ID |
162711 |
| 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 |
039455-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1393 (G1)
|
| Quality Score |
118 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
57569008-58056146 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58055268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 45
(L45Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140409
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172326]
[ENSMUST00000185502]
[ENSMUST00000185905]
[ENSMUST00000186271]
[ENSMUST00000187852]
[ENSMUST00000189373]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172326
AA Change: L45Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128840
Gene: ENSMUSG00000056222
AA Change: L45Q
| 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: L45Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140409
Gene: ENSMUSG00000056222
AA Change: L45Q
| 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: ENSMUST00000185905
AA Change: L45Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186271
AA Change: L45Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140755
Gene: ENSMUSG00000056222
AA Change: L45Q
| 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 damaging
Transcript: ENSMUST00000187852
AA Change: L45Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141130
Gene: ENSMUSG00000056222
AA Change: L45Q
| 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 damaging
Transcript: ENSMUST00000189373
AA Change: L45Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139863
Gene: ENSMUSG00000056222
AA Change: L45Q
| 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 |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.7%
|
| 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 |
|---|
| Abcf3 |
A |
G |
16: 20,379,180 (GRCm39) |
N682S |
probably benign |
Het |
| Acta2 |
G |
A |
19: 34,219,192 (GRCm39) |
R337C |
probably damaging |
Het |
| Anxa5 |
G |
A |
3: 36,507,658 (GRCm39) |
T194I |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,130,647 (GRCm39) |
T6A |
possibly damaging |
Het |
| Atg4d |
T |
A |
9: 21,182,129 (GRCm39) |
Y317N |
probably damaging |
Het |
| Bcl6 |
A |
G |
16: 23,796,316 (GRCm39) |
V37A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,987,716 (GRCm39) |
|
probably benign |
Het |
| Cd300ld2 |
G |
A |
11: 114,903,404 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Chad |
A |
T |
11: 94,456,140 (GRCm39) |
M73L |
probably benign |
Het |
| Copz1 |
A |
G |
15: 103,203,171 (GRCm39) |
N95S |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,456,818 (GRCm39) |
V717A |
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,788,548 (GRCm39) |
G140R |
probably damaging |
Het |
| Gm14226 |
A |
T |
2: 154,866,111 (GRCm39) |
S23C |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,405 (GRCm39) |
E545G |
probably damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Or6c215 |
A |
G |
10: 129,637,801 (GRCm39) |
F198L |
probably benign |
Het |
| Patj |
G |
A |
4: 98,312,648 (GRCm39) |
V329I |
probably benign |
Het |
| Ptcd3 |
T |
A |
6: 71,866,605 (GRCm39) |
T404S |
probably benign |
Het |
| Rasa1 |
A |
G |
13: 85,371,641 (GRCm39) |
C867R |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Rsad2 |
T |
C |
12: 26,506,376 (GRCm39) |
S15G |
probably damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,009 (GRCm39) |
I208V |
possibly damaging |
Het |
| Stat3 |
A |
T |
11: 100,779,591 (GRCm39) |
|
probably null |
Het |
| Zfp810 |
T |
C |
9: 22,191,810 (GRCm39) |
D90G |
probably benign |
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 |
|
R1298:Spock1
|
UTSW |
13 |
57,660,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- ATGCACTGTGGACCTCCATGAGAG -3'
(R):5'- TCTTCAGTAGTTTGACGGCGGC -3'
Sequencing Primer
(F):5'- CCATGAGAGGTTTGAACCTACCA -3'
(R):5'- CTGTTTCCATGCATAAGGGC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation