Incidental Mutation 'R4386:Spock1'
| ID |
326238 |
| 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 |
041680-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4386 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
57569008-58056146 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57588263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 270
(S270P)
|
| 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 damaging
Transcript: ENSMUST00000172326
AA Change: S267P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128840
Gene: ENSMUSG00000056222
AA Change: S267P
| 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: S270P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140409
Gene: ENSMUSG00000056222
AA Change: S270P
| 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: S267P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186271
AA Change: S267P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140755
Gene: ENSMUSG00000056222
AA Change: S267P
| 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: S267P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141130
Gene: ENSMUSG00000056222
AA Change: S267P
| 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: S270P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139863
Gene: ENSMUSG00000056222
AA Change: S270P
| 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 |
0.3991 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (48/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,379,982 (GRCm39) |
|
probably null |
Het |
| Acsm3 |
G |
T |
7: 119,373,094 (GRCm39) |
W199L |
probably damaging |
Het |
| Arap1 |
T |
A |
7: 101,034,778 (GRCm39) |
D236E |
probably benign |
Het |
| Arhgap1 |
T |
C |
2: 91,498,582 (GRCm39) |
Y160H |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,045,247 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
A |
G |
9: 109,718,801 (GRCm39) |
E334G |
probably damaging |
Het |
| Ciz1 |
C |
T |
2: 32,260,111 (GRCm39) |
T219M |
possibly damaging |
Het |
| Cluap1 |
A |
C |
16: 3,751,586 (GRCm39) |
D315A |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,210,154 (GRCm39) |
|
probably null |
Het |
| Cul2 |
T |
C |
18: 3,434,856 (GRCm39) |
S668P |
probably damaging |
Het |
| Fah |
T |
A |
7: 84,248,344 (GRCm39) |
T125S |
probably damaging |
Het |
| Fam221a |
G |
A |
6: 49,355,366 (GRCm39) |
C156Y |
probably damaging |
Het |
| Gm6158 |
G |
T |
14: 24,120,362 (GRCm39) |
|
noncoding transcript |
Het |
| Hbq1b |
T |
A |
11: 32,237,295 (GRCm39) |
V63E |
probably damaging |
Het |
| Ighv6-5 |
G |
A |
12: 114,380,337 (GRCm39) |
T79I |
possibly damaging |
Het |
| Kif12 |
G |
A |
4: 63,089,455 (GRCm39) |
T99M |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,996,272 (GRCm39) |
K298M |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lama1 |
A |
G |
17: 68,080,707 (GRCm39) |
Q1245R |
probably benign |
Het |
| Marchf4 |
G |
A |
1: 72,467,973 (GRCm39) |
P353L |
probably benign |
Het |
| Nadk |
A |
T |
4: 155,667,032 (GRCm39) |
|
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,247,389 (GRCm39) |
T345A |
probably damaging |
Het |
| Niban3 |
A |
G |
8: 72,060,155 (GRCm39) |
|
probably benign |
Het |
| Nsun6 |
T |
A |
2: 15,001,333 (GRCm39) |
M408L |
probably benign |
Het |
| Nuak1 |
T |
A |
10: 84,229,908 (GRCm39) |
E155V |
probably damaging |
Het |
| Oosp1 |
C |
T |
19: 11,645,158 (GRCm39) |
V169I |
possibly damaging |
Het |
| Or13c7c |
C |
T |
4: 43,836,124 (GRCm39) |
R122H |
probably benign |
Het |
| Or2t26 |
T |
A |
11: 49,039,842 (GRCm39) |
Y253N |
probably damaging |
Het |
| Or5ae2 |
T |
C |
7: 84,505,756 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5p81 |
T |
A |
7: 108,267,460 (GRCm39) |
V279E |
probably damaging |
Het |
| Pabpc2 |
T |
C |
18: 39,908,238 (GRCm39) |
V501A |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,953,334 (GRCm39) |
V1187A |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,484,516 (GRCm39) |
V2013A |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,055,914 (GRCm39) |
S759T |
possibly damaging |
Het |
| Scgb1b2 |
T |
A |
7: 30,990,089 (GRCm39) |
K86N |
possibly damaging |
Het |
| Sdk1 |
T |
C |
5: 142,080,381 (GRCm39) |
I1291T |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,341,090 (GRCm39) |
Y1396C |
probably benign |
Het |
| Slc24a3 |
A |
G |
2: 145,448,746 (GRCm39) |
E380G |
probably benign |
Het |
| Tmem128 |
T |
C |
5: 38,419,418 (GRCm39) |
S57P |
probably damaging |
Het |
| Tmem186 |
G |
A |
16: 8,453,887 (GRCm39) |
R125W |
probably benign |
Het |
| Tnfaip3 |
A |
G |
10: 18,882,758 (GRCm39) |
S220P |
probably damaging |
Het |
| Usp45 |
T |
C |
4: 21,830,505 (GRCm39) |
|
probably null |
Het |
| Usp5 |
C |
T |
6: 124,795,437 (GRCm39) |
|
probably null |
Het |
| Vmn1r35 |
A |
T |
6: 66,656,573 (GRCm39) |
C32* |
probably null |
Het |
| Vmn2r112 |
T |
A |
17: 22,820,303 (GRCm39) |
F59I |
probably benign |
Het |
| Wfdc9 |
A |
T |
2: 164,492,458 (GRCm39) |
S56R |
probably benign |
Het |
| Zfp369 |
A |
G |
13: 65,444,806 (GRCm39) |
I650V |
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 |
|
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 |
|
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'- TGTGTCTCTCTGTGCACAG -3'
(R):5'- AGGACACAGTTGGATGTACCC -3'
Sequencing Primer
(F):5'- TGTGCACAGATCCCTGATG -3'
(R):5'- ACAGTTGGATGTACCCTGACC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation