Incidental Mutation 'R9199:Spock3'
| ID |
698107 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9199 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
63404043-63810137 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63798764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 259
(T259A)
|
| 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: T262A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091192
Gene: ENSMUSG00000054162
AA Change: T262A
| 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: T259A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113797
Gene: ENSMUSG00000054162
AA Change: T259A
| 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: T262A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113683
Gene: ENSMUSG00000054162
AA Change: T262A
| 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: T262A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112930
Gene: ENSMUSG00000054162
AA Change: T262A
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (51/51) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110057P08Rik |
A |
T |
16: 88,971,654 (GRCm39) |
|
probably benign |
Het |
| Abca9 |
A |
T |
11: 110,056,770 (GRCm39) |
C17S |
possibly damaging |
Het |
| Acan |
T |
G |
7: 78,736,057 (GRCm39) |
F168V |
probably damaging |
Het |
| Acp7 |
A |
G |
7: 28,316,591 (GRCm39) |
L128P |
probably benign |
Het |
| Agtpbp1 |
C |
A |
13: 59,613,808 (GRCm39) |
M1044I |
probably benign |
Het |
| Arhgef3 |
A |
G |
14: 27,122,244 (GRCm39) |
Q361R |
possibly damaging |
Het |
| Brdt |
A |
T |
5: 107,498,029 (GRCm39) |
R235* |
probably null |
Het |
| Cacna1d |
A |
G |
14: 29,764,893 (GRCm39) |
S2013P |
probably benign |
Het |
| Cacna2d4 |
T |
A |
6: 119,244,787 (GRCm39) |
D274E |
probably benign |
Het |
| Ccdc24 |
T |
A |
4: 117,728,313 (GRCm39) |
I144F |
probably null |
Het |
| Ceacam5 |
C |
G |
7: 17,479,350 (GRCm39) |
L156V |
probably benign |
Het |
| Cenpn |
G |
A |
8: 117,664,014 (GRCm39) |
|
probably null |
Het |
| Cfap69 |
A |
T |
5: 5,668,952 (GRCm39) |
V385E |
possibly damaging |
Het |
| Cldnd1 |
A |
G |
16: 58,553,070 (GRCm39) |
H177R |
probably damaging |
Het |
| Cr1l |
A |
T |
1: 194,786,177 (GRCm39) |
V439D |
probably benign |
Het |
| Cul2 |
A |
G |
18: 3,423,577 (GRCm39) |
N329S |
probably benign |
Het |
| Cyp2c66 |
A |
G |
19: 39,130,800 (GRCm39) |
K138R |
probably benign |
Het |
| Ddx46 |
G |
A |
13: 55,825,342 (GRCm39) |
E996K |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,478,566 (GRCm39) |
K1444E |
possibly damaging |
Het |
| Evl |
G |
A |
12: 108,647,814 (GRCm39) |
|
probably null |
Het |
| Flnc |
C |
T |
6: 29,441,490 (GRCm39) |
T424I |
probably benign |
Het |
| Gadd45gip1 |
T |
A |
8: 85,559,128 (GRCm39) |
V70E |
probably damaging |
Het |
| Garem2 |
A |
G |
5: 30,319,471 (GRCm39) |
H311R |
probably damaging |
Het |
| Gm32742 |
G |
C |
9: 51,060,607 (GRCm39) |
H899D |
possibly damaging |
Het |
| Gm5148 |
C |
T |
3: 37,768,989 (GRCm39) |
C77Y |
probably benign |
Het |
| Gm5460 |
A |
G |
14: 33,758,393 (GRCm39) |
D141G |
possibly damaging |
Het |
| Kcnj8 |
T |
C |
6: 142,512,118 (GRCm39) |
N163S |
probably damaging |
Het |
| Klri1 |
A |
T |
6: 129,674,264 (GRCm39) |
*249R |
probably null |
Het |
| Kmt5b |
A |
G |
19: 3,865,525 (GRCm39) |
D863G |
probably damaging |
Het |
| Ltbp2 |
G |
T |
12: 84,832,750 (GRCm39) |
T1538K |
probably benign |
Het |
| Or51ah3 |
G |
A |
7: 103,210,143 (GRCm39) |
G153D |
probably damaging |
Het |
| Or5b120 |
A |
G |
19: 13,480,436 (GRCm39) |
H243R |
probably damaging |
Het |
| Pheta2 |
A |
T |
15: 82,227,877 (GRCm39) |
E132V |
probably damaging |
Het |
| Pramel16 |
A |
G |
4: 143,675,656 (GRCm39) |
L390P |
probably damaging |
Het |
| Ptchd3 |
A |
G |
11: 121,721,741 (GRCm39) |
I205V |
probably benign |
Het |
| Rab8b |
G |
A |
9: 66,758,641 (GRCm39) |
A152V |
probably damaging |
Het |
| Rasef |
T |
C |
4: 73,658,625 (GRCm39) |
D343G |
possibly damaging |
Het |
| Rcan2 |
G |
A |
17: 44,264,423 (GRCm39) |
V28I |
probably benign |
Het |
| Sec1 |
G |
A |
7: 45,328,009 (GRCm39) |
T346M |
probably benign |
Het |
| Sgk1 |
T |
A |
10: 21,758,558 (GRCm39) |
N7K |
probably damaging |
Het |
| Slc39a12 |
A |
T |
2: 14,394,321 (GRCm39) |
I64F |
possibly damaging |
Het |
| Sypl1 |
A |
T |
12: 33,016,463 (GRCm39) |
|
probably benign |
Het |
| Teddm2 |
G |
T |
1: 153,726,767 (GRCm39) |
Q36K |
probably damaging |
Het |
| Tlr1 |
A |
G |
5: 65,083,534 (GRCm39) |
S348P |
possibly damaging |
Het |
| Ttll12 |
A |
G |
15: 83,466,559 (GRCm39) |
F336S |
probably damaging |
Het |
| Ttll8 |
G |
A |
15: 88,798,818 (GRCm39) |
P639L |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,244,681 (GRCm39) |
V1212A |
probably damaging |
Het |
| Vcan |
C |
A |
13: 89,838,615 (GRCm39) |
G2310* |
probably null |
Het |
| Vmn2r104 |
A |
T |
17: 20,262,097 (GRCm39) |
N344K |
probably damaging |
Het |
| Zfp281 |
A |
G |
1: 136,553,643 (GRCm39) |
N207S |
probably benign |
Het |
| Zfp534 |
T |
A |
4: 147,760,439 (GRCm39) |
M77L |
probably benign |
Het |
| Zfp819 |
G |
A |
7: 43,267,203 (GRCm39) |
S562N |
probably benign |
Het |
| Zmym1 |
C |
T |
4: 126,944,623 (GRCm39) |
C188Y |
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 |
|
|
R9065:Spock3
|
UTSW |
8 |
63,801,989 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9377:Spock3
|
UTSW |
8 |
63,798,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTGATTAGGAACAGATGTTGTC -3'
(R):5'- ATGCAGGCCAACTAATTCCATC -3'
Sequencing Primer
(F):5'- GCTAATAGACGTTGAAAAACTTCCC -3'
(R):5'- ATCACAGCAGCCTCATCTTTTAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation