Incidental Mutation 'R5329:Spock3'
| ID |
422221 |
| 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 |
042911-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5329 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
63404043-63810137 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63798816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 279
(D279G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112930
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093480]
[ENSMUST00000117377]
[ENSMUST00000118003]
[ENSMUST00000119068]
|
| AlphaFold |
Q8BKV0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093480
AA Change: D279G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091192
Gene: ENSMUSG00000054162
AA Change: D279G
| 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: D276G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113797
Gene: ENSMUSG00000054162
AA Change: D276G
| 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: D279G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113683
Gene: ENSMUSG00000054162
AA Change: D279G
| 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: D279G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112930
Gene: ENSMUSG00000054162
AA Change: D279G
| 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 |
|
| Meta Mutation Damage Score |
0.7666 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (61/62) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430005L14Rik |
G |
A |
4: 154,044,284 (GRCm39) |
V32I |
probably benign |
Het |
| Abcg4 |
A |
T |
9: 44,190,842 (GRCm39) |
M19K |
probably benign |
Het |
| Acsm1 |
A |
G |
7: 119,255,274 (GRCm39) |
T392A |
probably benign |
Het |
| Adam19 |
A |
T |
11: 46,015,853 (GRCm39) |
I338F |
probably damaging |
Het |
| Adamdec1 |
C |
T |
14: 68,807,612 (GRCm39) |
M349I |
probably damaging |
Het |
| Arhgef11 |
T |
A |
3: 87,587,059 (GRCm39) |
|
probably benign |
Het |
| Bptf |
T |
C |
11: 106,964,121 (GRCm39) |
D1628G |
probably benign |
Het |
| Camk2d |
C |
T |
3: 126,391,131 (GRCm39) |
Q15* |
probably null |
Het |
| Camk2g |
T |
G |
14: 20,843,999 (GRCm39) |
D12A |
possibly damaging |
Het |
| Cemip2 |
T |
C |
19: 21,775,693 (GRCm39) |
I312T |
probably benign |
Het |
| Cgn |
T |
C |
3: 94,687,300 (GRCm39) |
M1V |
probably null |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Dcbld1 |
C |
A |
10: 52,160,353 (GRCm39) |
|
probably benign |
Het |
| Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
| Efcab3 |
T |
G |
11: 104,644,632 (GRCm39) |
|
probably null |
Het |
| Espl1 |
T |
A |
15: 102,220,953 (GRCm39) |
L903Q |
probably damaging |
Het |
| Gm5117 |
T |
A |
8: 32,227,910 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5150 |
T |
C |
3: 16,017,588 (GRCm39) |
T228A |
probably benign |
Het |
| Gm5435 |
A |
T |
12: 82,543,250 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr156 |
T |
A |
16: 37,825,810 (GRCm39) |
C676S |
probably benign |
Het |
| Gstt3 |
C |
T |
10: 75,610,685 (GRCm39) |
E230K |
possibly damaging |
Het |
| Jarid2 |
A |
G |
13: 45,059,747 (GRCm39) |
I660V |
possibly damaging |
Het |
| Kif13a |
A |
G |
13: 46,928,877 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
T |
A |
5: 123,902,254 (GRCm39) |
V299D |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lipk |
T |
A |
19: 33,997,613 (GRCm39) |
|
probably null |
Het |
| Loxhd1 |
T |
C |
18: 77,420,378 (GRCm39) |
L334P |
probably damaging |
Het |
| Macc1 |
T |
A |
12: 119,410,212 (GRCm39) |
Y327N |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,010,876 (GRCm39) |
S705L |
possibly damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Ncam2 |
A |
T |
16: 81,231,707 (GRCm39) |
Q57L |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,522,102 (GRCm39) |
E645G |
probably damaging |
Het |
| Nfatc1 |
A |
T |
18: 80,751,332 (GRCm39) |
M1K |
probably null |
Het |
| Nlrp9b |
A |
T |
7: 19,757,916 (GRCm39) |
R384S |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,780,354 (GRCm39) |
H62R |
possibly damaging |
Het |
| Or2h2b-ps1 |
T |
A |
17: 37,480,891 (GRCm39) |
Y216F |
probably damaging |
Het |
| Or4c125 |
T |
A |
2: 89,169,803 (GRCm39) |
Y281F |
probably damaging |
Het |
| Or51i1 |
T |
C |
7: 103,671,204 (GRCm39) |
H107R |
probably damaging |
Het |
| Or8b39 |
A |
T |
9: 37,996,422 (GRCm39) |
M97L |
probably benign |
Het |
| Or8h7 |
A |
G |
2: 86,720,964 (GRCm39) |
L185S |
probably damaging |
Het |
| Pdzph1 |
T |
A |
17: 59,281,875 (GRCm39) |
I136F |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,462,026 (GRCm39) |
I119T |
probably damaging |
Het |
| R3hdm2 |
A |
G |
10: 127,294,762 (GRCm39) |
H215R |
probably damaging |
Het |
| Septin14 |
C |
T |
5: 129,762,978 (GRCm39) |
|
probably null |
Het |
| Slc9a3 |
T |
C |
13: 74,299,079 (GRCm39) |
M166T |
possibly damaging |
Het |
| Suco |
T |
C |
1: 161,660,999 (GRCm39) |
I967V |
probably damaging |
Het |
| Tgtp1 |
A |
G |
11: 48,878,003 (GRCm39) |
L234P |
probably damaging |
Het |
| Tmem176a |
A |
G |
6: 48,819,151 (GRCm39) |
D4G |
probably benign |
Het |
| Ugt1a10 |
G |
A |
1: 88,143,976 (GRCm39) |
A199T |
probably damaging |
Het |
| Uox |
A |
G |
3: 146,330,300 (GRCm39) |
D152G |
probably damaging |
Het |
| Vmn1r35 |
C |
T |
6: 66,656,490 (GRCm39) |
W60* |
probably null |
Het |
| Vmn2r103 |
T |
C |
17: 20,032,433 (GRCm39) |
C736R |
probably 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 |
|
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'- AGGATTTCACAGTGACGAGC -3'
(R):5'- ATGACTGAGGCATTGGATAGTAC -3'
Sequencing Primer
(F):5'- GACTGATTAGGAACAGATGTTGTC -3'
(R):5'- CTTGCTGTCTCTGGAAAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation