Incidental Mutation 'R1422:Spock3'
ID |
161123 |
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 |
039478-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1422 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
63404043-63810137 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 63597023 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 109
(I109T)
|
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: I112T
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000091192 Gene: ENSMUSG00000054162 AA Change: I112T
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 |
possibly damaging
Transcript: ENSMUST00000117377
AA Change: I109T
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113797 Gene: ENSMUSG00000054162 AA Change: I109T
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: I112T
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113683 Gene: ENSMUSG00000054162 AA Change: I112T
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: I112T
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112930 Gene: ENSMUSG00000054162 AA Change: I112T
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 |
0.0817 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.6%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700062C07Rik |
A |
G |
18: 24,610,333 (GRCm39) |
T170A |
probably benign |
Het |
Arhgap5 |
T |
A |
12: 52,566,297 (GRCm39) |
D1089E |
probably damaging |
Het |
Atrn |
T |
C |
2: 130,799,834 (GRCm39) |
Y404H |
probably damaging |
Het |
Becn1 |
T |
C |
11: 101,185,952 (GRCm39) |
D98G |
possibly damaging |
Het |
Coro2b |
A |
G |
9: 62,336,229 (GRCm39) |
|
probably null |
Het |
Cpne4 |
T |
C |
9: 104,777,484 (GRCm39) |
I143T |
probably damaging |
Het |
Cr2 |
A |
G |
1: 194,853,433 (GRCm39) |
I35T |
probably benign |
Het |
Ctns |
T |
C |
11: 73,076,072 (GRCm39) |
Y321C |
probably damaging |
Het |
Cyp4f16 |
A |
T |
17: 32,761,973 (GRCm39) |
M174L |
probably damaging |
Het |
Dpy19l4 |
T |
C |
4: 11,317,168 (GRCm39) |
E10G |
possibly damaging |
Het |
Dtx3 |
T |
A |
10: 127,027,158 (GRCm39) |
I339F |
possibly damaging |
Het |
Fam184a |
A |
T |
10: 53,551,304 (GRCm39) |
M625K |
probably benign |
Het |
Fgd6 |
A |
G |
10: 93,881,234 (GRCm39) |
E696G |
probably damaging |
Het |
Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
Gria1 |
T |
A |
11: 57,080,614 (GRCm39) |
L199Q |
probably benign |
Het |
Hk1 |
T |
C |
10: 62,131,873 (GRCm39) |
D184G |
probably null |
Het |
Ift88 |
T |
C |
14: 57,675,758 (GRCm39) |
|
probably benign |
Het |
Ift88 |
G |
A |
14: 57,710,436 (GRCm39) |
V403M |
probably damaging |
Het |
Igsf1 |
C |
A |
X: 48,871,813 (GRCm39) |
G737* |
probably null |
Het |
Kif19a |
A |
G |
11: 114,676,635 (GRCm39) |
D488G |
probably benign |
Het |
Lpcat2 |
T |
C |
8: 93,606,045 (GRCm39) |
L232P |
probably damaging |
Het |
Ly9 |
A |
G |
1: 171,428,780 (GRCm39) |
V280A |
probably damaging |
Het |
Macrod2 |
T |
A |
2: 140,261,861 (GRCm39) |
|
probably null |
Het |
Mmp1a |
A |
G |
9: 7,464,298 (GRCm39) |
|
probably null |
Het |
Mmrn2 |
A |
G |
14: 34,118,196 (GRCm39) |
H80R |
probably damaging |
Het |
Or2b4 |
T |
C |
17: 38,116,254 (GRCm39) |
Y73H |
probably damaging |
Het |
Or51f23 |
G |
A |
7: 102,453,057 (GRCm39) |
R124H |
probably benign |
Het |
Or5l13 |
G |
A |
2: 87,780,439 (GRCm39) |
T46I |
probably benign |
Het |
Pkd1l3 |
C |
A |
8: 110,348,340 (GRCm39) |
P194H |
unknown |
Het |
Plk2 |
A |
G |
13: 110,536,023 (GRCm39) |
M576V |
probably damaging |
Het |
Pms2 |
T |
A |
5: 143,850,523 (GRCm39) |
S113T |
probably damaging |
Het |
Ptprk |
A |
G |
10: 28,351,276 (GRCm39) |
I590V |
possibly damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Rad17 |
A |
G |
13: 100,781,590 (GRCm39) |
L69P |
probably benign |
Het |
Rmc1 |
G |
A |
18: 12,314,680 (GRCm39) |
D87N |
probably damaging |
Het |
Robo2 |
G |
A |
16: 73,775,336 (GRCm39) |
T466M |
probably damaging |
Het |
Sema6a |
A |
G |
18: 47,439,498 (GRCm39) |
C9R |
probably benign |
Het |
Slc6a19 |
A |
G |
13: 73,833,988 (GRCm39) |
S357P |
probably benign |
Het |
Spata31e2 |
C |
G |
1: 26,721,547 (GRCm39) |
S1211T |
possibly damaging |
Het |
Svs6 |
T |
C |
2: 164,159,580 (GRCm39) |
|
probably null |
Het |
Tenm4 |
A |
T |
7: 96,199,258 (GRCm39) |
D17V |
probably damaging |
Het |
Trp53bp2 |
T |
A |
1: 182,274,029 (GRCm39) |
M558K |
probably benign |
Het |
Ttn |
T |
C |
2: 76,572,014 (GRCm39) |
E26293G |
probably damaging |
Het |
Vmn1r29 |
A |
G |
6: 58,284,871 (GRCm39) |
Y197C |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,032,080 (GRCm39) |
|
probably benign |
Het |
Zfp366 |
A |
G |
13: 99,365,804 (GRCm39) |
K322E |
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 |
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'- ACTATATACCAACGCTTCTGGAGCCAT -3'
Sequencing Primer
(F):5'- CCTGTCTGAGTTACAAGGTTAGAAG -3'
(R):5'- ACGCTTCTGGAGCCATTTAAAC -3'
|
Posted On |
2014-03-14 |