Incidental Mutation 'R0084:Spock3'
| ID |
19814 |
| 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 |
038371-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0084 (G1)
|
| Quality Score |
80 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
63404043-63810137 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 63596963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 89
(K89T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093480]
[ENSMUST00000117377]
[ENSMUST00000118003]
[ENSMUST00000119068]
|
| AlphaFold |
Q8BKV0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093480
AA Change: K92T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000091192
Gene: ENSMUSG00000054162
AA Change: K92T
| 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: K89T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113797
Gene: ENSMUSG00000054162
AA Change: K89T
| 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 |
probably damaging
Transcript: ENSMUST00000118003
AA Change: K92T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113683
Gene: ENSMUSG00000054162
AA Change: K92T
| 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 |
probably damaging
Transcript: ENSMUST00000119068
AA Change: K92T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112930
Gene: ENSMUSG00000054162
AA Change: K92T
| 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 |
noncoding transcript
Transcript: ENSMUST00000138398
|
| Meta Mutation Damage Score |
0.1837 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.0%
- 10x: 94.5%
- 20x: 86.0%
|
| Validation Efficiency |
99% (77/78) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,927,423 (GRCm39) |
|
probably benign |
Het |
| Abcc9 |
A |
G |
6: 142,604,277 (GRCm39) |
Y653H |
probably damaging |
Het |
| Acp3 |
A |
T |
9: 104,191,564 (GRCm39) |
S241T |
probably benign |
Het |
| Acvr1 |
A |
G |
2: 58,348,895 (GRCm39) |
|
probably null |
Het |
| Adgb |
T |
C |
10: 10,272,088 (GRCm39) |
N832S |
possibly damaging |
Het |
| AI182371 |
A |
G |
2: 34,975,714 (GRCm39) |
|
probably null |
Het |
| Anapc1 |
G |
A |
2: 128,465,886 (GRCm39) |
|
probably benign |
Het |
| Apba1 |
T |
C |
19: 23,889,861 (GRCm39) |
S420P |
possibly damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Bpifb2 |
A |
T |
2: 153,733,011 (GRCm39) |
M365L |
probably benign |
Het |
| Btnl9 |
A |
T |
11: 49,069,606 (GRCm39) |
N224K |
possibly damaging |
Het |
| Cntn1 |
A |
T |
15: 92,215,798 (GRCm39) |
I944L |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,296,265 (GRCm39) |
|
probably benign |
Het |
| Dcaf11 |
C |
T |
14: 55,806,700 (GRCm39) |
R468C |
probably benign |
Het |
| E4f1 |
T |
C |
17: 24,663,056 (GRCm39) |
T750A |
possibly damaging |
Het |
| Ercc5 |
A |
G |
1: 44,215,136 (GRCm39) |
K890E |
possibly damaging |
Het |
| Fbrsl1 |
A |
G |
5: 110,527,381 (GRCm39) |
L262P |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,935,979 (GRCm38) |
D2273G |
probably benign |
Het |
| Gm9848 |
A |
T |
13: 113,244,776 (GRCm39) |
|
noncoding transcript |
Het |
| Hcrtr1 |
T |
A |
4: 130,031,059 (GRCm39) |
H75L |
possibly damaging |
Het |
| Heatr9 |
A |
T |
11: 83,403,721 (GRCm39) |
|
probably benign |
Het |
| Htatip2 |
G |
A |
7: 49,409,420 (GRCm39) |
G58D |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,445,918 (GRCm39) |
Y210* |
probably null |
Het |
| Lmntd1 |
G |
A |
6: 145,350,254 (GRCm39) |
H234Y |
unknown |
Het |
| Ly6g2 |
T |
A |
15: 75,089,624 (GRCm39) |
M44K |
probably benign |
Het |
| Map4k3 |
T |
C |
17: 80,963,343 (GRCm39) |
K85E |
possibly damaging |
Het |
| Moxd2 |
T |
C |
6: 40,856,342 (GRCm39) |
D510G |
probably null |
Het |
| Mpv17l2 |
A |
T |
8: 71,217,190 (GRCm39) |
|
probably benign |
Het |
| Nbeal2 |
A |
G |
9: 110,472,778 (GRCm39) |
|
probably null |
Het |
| Ncapd3 |
A |
G |
9: 26,967,407 (GRCm39) |
D581G |
probably damaging |
Het |
| Ndufb5 |
T |
C |
3: 32,791,352 (GRCm39) |
V33A |
probably benign |
Het |
| Or10a49 |
A |
T |
7: 108,468,007 (GRCm39) |
M118K |
probably damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,890,669 (GRCm39) |
T524A |
probably benign |
Het |
| Otogl |
A |
C |
10: 107,737,202 (GRCm39) |
S71A |
probably damaging |
Het |
| Ovol2 |
G |
T |
2: 144,147,808 (GRCm39) |
N180K |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,823,774 (GRCm39) |
V219A |
probably benign |
Het |
| Paox |
C |
T |
7: 139,712,359 (GRCm39) |
R197* |
probably null |
Het |
| Pax2 |
T |
A |
19: 44,806,874 (GRCm39) |
Y290N |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,516,937 (GRCm39) |
M933T |
possibly damaging |
Het |
| Ppfia4 |
G |
T |
1: 134,227,164 (GRCm39) |
R1124S |
possibly damaging |
Het |
| Prkch |
T |
C |
12: 73,744,761 (GRCm39) |
F258S |
possibly damaging |
Het |
| Rhob |
G |
A |
12: 8,549,107 (GRCm39) |
R176C |
probably benign |
Het |
| Sbf2 |
A |
T |
7: 110,041,573 (GRCm39) |
I326N |
possibly damaging |
Het |
| Scgb2b2 |
A |
T |
7: 31,003,041 (GRCm39) |
E45D |
probably benign |
Het |
| Scube3 |
T |
A |
17: 28,381,935 (GRCm39) |
D320E |
probably benign |
Het |
| Serpina1f |
A |
G |
12: 103,659,847 (GRCm39) |
V145A |
possibly damaging |
Het |
| Slc28a2b |
A |
G |
2: 122,353,314 (GRCm39) |
Y498C |
possibly damaging |
Het |
| Slc6a5 |
A |
C |
7: 49,579,761 (GRCm39) |
I380L |
probably benign |
Het |
| Spag16 |
A |
G |
1: 70,035,998 (GRCm39) |
N342S |
probably benign |
Het |
| Spata16 |
A |
G |
3: 26,721,559 (GRCm39) |
T27A |
possibly damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,481,797 (GRCm39) |
V795A |
probably damaging |
Het |
| Tirap |
G |
T |
9: 35,100,458 (GRCm39) |
H75Q |
probably benign |
Het |
| Tpk1 |
C |
A |
6: 43,323,763 (GRCm39) |
V229L |
possibly damaging |
Het |
| Tshz2 |
A |
G |
2: 169,726,286 (GRCm39) |
H294R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,703,043 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
C |
T |
11: 115,954,657 (GRCm39) |
V984M |
probably damaging |
Het |
| Zbtb43 |
A |
T |
2: 33,343,996 (GRCm39) |
Y373N |
probably damaging |
Het |
| Zfp646 |
T |
A |
7: 127,480,476 (GRCm39) |
H884Q |
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 |
|
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 |
|
|
R9065:Spock3
|
UTSW |
8 |
63,801,989 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- AAACTGTGAACCTGTCTGAGTTACAAGG -3'
(R):5'- CCAACGCTTCTGGAGCCATTTAAAC -3'
Sequencing Primer
(F):5'- CCTGTCTGAGTTACAAGGTTAGAAG -3'
(R):5'- GCTTCTGGAGCCATTTAAACAAATAC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation