Incidental Mutation 'R9065:Spock3'
| ID |
689204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spock3
|
| Ensembl Gene |
ENSMUSG00000054162 |
| Gene Name |
sparc/osteonectin, cwcv and kazal-like domains proteoglycan 3 |
| Synonyms |
testican 3, 2900045C01Rik |
| MMRRC Submission |
068890-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9065 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
63404043-63810137 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63801989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 323
(K323E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093480]
[ENSMUST00000117377]
[ENSMUST00000118003]
[ENSMUST00000119068]
|
| AlphaFold |
Q8BKV0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093480
AA Change: K326E
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091192
Gene: ENSMUSG00000054162
AA Change: K326E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
KAZAL
|
138 |
183 |
2.74e-11 |
SMART |
|
Pfam:SPARC_Ca_bdg
|
198 |
308 |
8.5e-35 |
PFAM |
|
TY
|
338 |
384 |
2.27e-17 |
SMART |
|
low complexity region
|
403 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117377
AA Change: K323E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113797
Gene: ENSMUSG00000054162
AA Change: K323E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
KAZAL
|
135 |
180 |
2.74e-11 |
SMART |
|
Pfam:SPARC_Ca_bdg
|
195 |
305 |
5e-35 |
PFAM |
|
TY
|
335 |
381 |
2.27e-17 |
SMART |
|
low complexity region
|
400 |
431 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118003
AA Change: K326E
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113683
Gene: ENSMUSG00000054162
AA Change: K326E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
KAZAL
|
138 |
183 |
2.74e-11 |
SMART |
|
Pfam:SPARC_Ca_bdg
|
198 |
308 |
1.1e-36 |
PFAM |
|
TY
|
338 |
384 |
2.27e-17 |
SMART |
|
low complexity region
|
403 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119068
AA Change: K326E
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112930
Gene: ENSMUSG00000054162
AA Change: K326E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
KAZAL
|
138 |
183 |
2.74e-11 |
SMART |
|
Pfam:SPARC_Ca_bdg
|
198 |
308 |
8.5e-35 |
PFAM |
|
TY
|
338 |
384 |
2.27e-17 |
SMART |
|
low complexity region
|
403 |
434 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a novel family of calcium-binding proteoglycan proteins that contain thyroglobulin type-1 and Kazal-like domains. The encoded protein and may play a role in adult T-cell leukemia by inhibiting the activity of membrane-type matrix metalloproteinases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no obvious morphological or behavioral abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,323,084 (GRCm39) |
N1472S |
probably benign |
Het |
| 4930447C04Rik |
C |
A |
12: 72,939,604 (GRCm39) |
Q435H |
possibly damaging |
Het |
| Aass |
G |
T |
6: 23,075,746 (GRCm39) |
A797E |
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,608,223 (GRCm39) |
Y565N |
probably damaging |
Het |
| Arid2 |
A |
G |
15: 96,269,372 (GRCm39) |
T1162A |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,887,131 (GRCm39) |
|
probably null |
Het |
| Card11 |
G |
A |
5: 140,894,297 (GRCm39) |
P111S |
probably damaging |
Het |
| Ccdc66 |
T |
A |
14: 27,213,850 (GRCm39) |
E328D |
probably damaging |
Het |
| Cldn8 |
T |
A |
16: 88,359,902 (GRCm39) |
M8L |
probably benign |
Het |
| Cnot9 |
T |
A |
1: 74,558,142 (GRCm39) |
L96* |
probably null |
Het |
| Cntnap5c |
T |
A |
17: 58,445,642 (GRCm39) |
C561S |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,293,936 (GRCm39) |
D1347G |
probably benign |
Het |
| Epb41 |
A |
G |
4: 131,682,888 (GRCm39) |
V390A |
|
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Eps15l1 |
G |
T |
8: 73,145,762 (GRCm39) |
S157* |
probably null |
Het |
| Ercc6l2 |
A |
G |
13: 63,967,866 (GRCm39) |
I155M |
possibly damaging |
Het |
| Esco1 |
G |
T |
18: 10,594,005 (GRCm39) |
T427K |
probably benign |
Het |
| Fignl1 |
C |
T |
11: 11,752,692 (GRCm39) |
C121Y |
possibly damaging |
Het |
| Flrt2 |
A |
G |
12: 95,746,177 (GRCm39) |
S172G |
probably damaging |
Het |
| Frmd3 |
A |
T |
4: 74,063,269 (GRCm39) |
|
probably null |
Het |
| Fuz |
C |
T |
7: 44,546,721 (GRCm39) |
R119W |
probably damaging |
Het |
| Gtf2ird2 |
T |
G |
5: 134,225,407 (GRCm39) |
I165S |
probably damaging |
Het |
| Itih1 |
T |
A |
14: 30,657,833 (GRCm39) |
I417F |
probably damaging |
Het |
| Jarid2 |
G |
T |
13: 44,994,326 (GRCm39) |
V13L |
|
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Lpp |
T |
A |
16: 24,580,889 (GRCm39) |
W327R |
probably benign |
Het |
| Msrb2 |
T |
A |
2: 19,383,041 (GRCm39) |
F56I |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,554,305 (GRCm39) |
I3996T |
unknown |
Het |
| Myh4 |
C |
A |
11: 67,139,573 (GRCm39) |
A630E |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Oacyl |
T |
A |
18: 65,840,484 (GRCm39) |
F85Y |
probably damaging |
Het |
| Or5ac24 |
C |
T |
16: 59,165,530 (GRCm39) |
C178Y |
probably damaging |
Het |
| Or5b118 |
T |
A |
19: 13,448,670 (GRCm39) |
I70N |
probably damaging |
Het |
| Or6c69b |
T |
A |
10: 129,626,727 (GRCm39) |
I244F |
possibly damaging |
Het |
| Pcdha11 |
A |
C |
18: 37,139,877 (GRCm39) |
E502A |
possibly damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,717,582 (GRCm39) |
E1509G |
possibly damaging |
Het |
| Pfkm |
A |
T |
15: 98,021,680 (GRCm39) |
S314C |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,674,924 (GRCm39) |
H230R |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,251,893 (GRCm39) |
V427E |
possibly damaging |
Het |
| Ppox |
TCTTATACCTGGAC |
TC |
1: 171,105,447 (GRCm39) |
|
probably benign |
Het |
| Prr11 |
G |
A |
11: 86,992,249 (GRCm39) |
P209S |
probably damaging |
Het |
| Prrc2b |
C |
A |
2: 32,109,304 (GRCm39) |
Q1690K |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,620,465 (GRCm39) |
M564L |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,149,452 (GRCm39) |
Y820H |
probably damaging |
Het |
| Six4 |
A |
C |
12: 73,159,498 (GRCm39) |
I154S |
possibly damaging |
Het |
| Spata31e4 |
A |
T |
13: 50,856,276 (GRCm39) |
H638L |
probably benign |
Het |
| Stmn4 |
A |
T |
14: 66,596,126 (GRCm39) |
|
probably null |
Het |
| Tafa2 |
A |
G |
10: 123,429,421 (GRCm39) |
K12E |
probably benign |
Het |
| Tanc2 |
C |
T |
11: 105,689,518 (GRCm39) |
R227* |
probably null |
Het |
| Tcp1 |
T |
A |
17: 13,139,210 (GRCm39) |
V179D |
probably damaging |
Het |
| Trmt5 |
A |
T |
12: 73,328,038 (GRCm39) |
F388L |
probably damaging |
Het |
| Tsc2 |
G |
T |
17: 24,822,164 (GRCm39) |
P1126H |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,612,720 (GRCm39) |
I17120F |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,778,270 (GRCm39) |
K1372N |
unknown |
Het |
| U2surp |
T |
C |
9: 95,359,563 (GRCm39) |
T652A |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,592,972 (GRCm39) |
V2239A |
probably benign |
Het |
| Vps33b |
A |
G |
7: 79,935,339 (GRCm39) |
T356A |
probably damaging |
Het |
| Vwf |
C |
A |
6: 125,623,262 (GRCm39) |
H1786Q |
|
Het |
| Wwox |
A |
G |
8: 115,215,682 (GRCm39) |
I152V |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,977,418 (GRCm39) |
T405A |
probably benign |
Het |
| Zfpm2 |
A |
T |
15: 40,962,712 (GRCm39) |
I257F |
possibly damaging |
Het |
|
| Other mutations in Spock3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01093:Spock3
|
APN |
8 |
63,801,993 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01716:Spock3
|
APN |
8 |
63,808,384 (GRCm39) |
missense |
unknown |
|
|
IGL02058:Spock3
|
APN |
8 |
63,698,232 (GRCm39) |
nonsense |
probably null |
|
|
IGL02450:Spock3
|
APN |
8 |
63,698,249 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02610:Spock3
|
APN |
8 |
63,798,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03046:Spock3
|
UTSW |
8 |
63,802,018 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0044:Spock3
|
UTSW |
8 |
63,597,041 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0044:Spock3
|
UTSW |
8 |
63,597,041 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0084:Spock3
|
UTSW |
8 |
63,596,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1422:Spock3
|
UTSW |
8 |
63,597,023 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1469:Spock3
|
UTSW |
8 |
63,404,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1469:Spock3
|
UTSW |
8 |
63,404,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1484:Spock3
|
UTSW |
8 |
63,673,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Spock3
|
UTSW |
8 |
63,802,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1729:Spock3
|
UTSW |
8 |
63,802,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1739:Spock3
|
UTSW |
8 |
63,801,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2057:Spock3
|
UTSW |
8 |
63,698,204 (GRCm39) |
nonsense |
probably null |
|
|
R2340:Spock3
|
UTSW |
8 |
63,798,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Spock3
|
UTSW |
8 |
63,798,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Spock3
|
UTSW |
8 |
63,798,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3733:Spock3
|
UTSW |
8 |
63,798,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3763:Spock3
|
UTSW |
8 |
63,597,049 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5000:Spock3
|
UTSW |
8 |
63,698,158 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5069:Spock3
|
UTSW |
8 |
63,808,299 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5076:Spock3
|
UTSW |
8 |
63,798,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5232:Spock3
|
UTSW |
8 |
63,798,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5329:Spock3
|
UTSW |
8 |
63,798,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5621:Spock3
|
UTSW |
8 |
63,597,040 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5882:Spock3
|
UTSW |
8 |
63,596,965 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5888:Spock3
|
UTSW |
8 |
63,808,334 (GRCm39) |
missense |
unknown |
|
|
R5902:Spock3
|
UTSW |
8 |
63,808,336 (GRCm39) |
missense |
unknown |
|
|
R6991:Spock3
|
UTSW |
8 |
63,808,415 (GRCm39) |
makesense |
probably null |
|
|
R7317:Spock3
|
UTSW |
8 |
63,566,590 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7970:Spock3
|
UTSW |
8 |
63,798,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8030:Spock3
|
UTSW |
8 |
63,805,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8392:Spock3
|
UTSW |
8 |
63,808,345 (GRCm39) |
missense |
unknown |
|
|
R8889:Spock3
|
UTSW |
8 |
63,404,986 (GRCm39) |
nonsense |
probably null |
|
|
R8892:Spock3
|
UTSW |
8 |
63,404,986 (GRCm39) |
nonsense |
probably null |
|
|
R9199:Spock3
|
UTSW |
8 |
63,798,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9377:Spock3
|
UTSW |
8 |
63,798,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATAGCTAGAACTTACTACATTGC -3'
(R):5'- GTAAGTTCAGTGGCTTTCCAAAAG -3'
Sequencing Primer
(F):5'- TATATCCACACATACGTATCCACATG -3'
(R):5'- GCTTTCCAAAAGTTCATAAATTTTGC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation