Incidental Mutation 'R3763:Spock3'
ID |
270596 |
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 |
040873-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3763 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
63404043-63810137 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 63597049 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112930
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093480]
[ENSMUST00000117377]
[ENSMUST00000118003]
[ENSMUST00000119068]
|
AlphaFold |
Q8BKV0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000093480
|
SMART Domains |
Protein: ENSMUSP00000091192 Gene: ENSMUSG00000054162
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 null
Transcript: ENSMUST00000117377
|
SMART Domains |
Protein: ENSMUSP00000113797 Gene: ENSMUSG00000054162
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 null
Transcript: ENSMUST00000118003
|
SMART Domains |
Protein: ENSMUSP00000113683 Gene: ENSMUSG00000054162
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 null
Transcript: ENSMUST00000119068
|
SMART Domains |
Protein: ENSMUSP00000112930 Gene: ENSMUSG00000054162
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 |
0.9469 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (37/37) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr2a |
A |
G |
2: 48,760,331 (GRCm39) |
E29G |
possibly damaging |
Het |
Aff3 |
A |
G |
1: 38,291,770 (GRCm39) |
|
probably benign |
Het |
AW146154 |
A |
G |
7: 41,129,794 (GRCm39) |
C441R |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,310,271 (GRCm39) |
V1443A |
possibly damaging |
Het |
Commd1 |
T |
A |
11: 22,924,102 (GRCm39) |
F292Y |
probably benign |
Het |
Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
Ddx18 |
A |
G |
1: 121,489,106 (GRCm39) |
Y314H |
probably damaging |
Het |
Dna2 |
C |
T |
10: 62,802,576 (GRCm39) |
T898I |
probably damaging |
Het |
Epc1 |
C |
A |
18: 6,440,091 (GRCm39) |
V59L |
possibly damaging |
Het |
Etv6 |
C |
A |
6: 134,239,975 (GRCm39) |
|
probably benign |
Het |
Fam118a |
A |
G |
15: 84,937,998 (GRCm39) |
D293G |
possibly damaging |
Het |
Gzmn |
A |
C |
14: 56,404,361 (GRCm39) |
S159A |
probably benign |
Het |
Insc |
A |
G |
7: 114,390,207 (GRCm39) |
D26G |
probably damaging |
Het |
L1td1 |
A |
G |
4: 98,626,072 (GRCm39) |
R756G |
probably damaging |
Het |
Ltk |
A |
G |
2: 119,582,318 (GRCm39) |
L499P |
probably benign |
Het |
Mast4 |
A |
T |
13: 102,923,927 (GRCm39) |
L291M |
probably damaging |
Het |
Nefm |
G |
T |
14: 68,361,797 (GRCm39) |
R156S |
probably damaging |
Het |
Nppc |
T |
A |
1: 86,597,580 (GRCm39) |
N63Y |
probably damaging |
Het |
Or5p79 |
A |
T |
7: 108,221,924 (GRCm39) |
I302F |
probably damaging |
Het |
Or6c69 |
A |
G |
10: 129,747,314 (GRCm39) |
S278P |
probably damaging |
Het |
Pcdhb7 |
T |
C |
18: 37,474,936 (GRCm39) |
V24A |
probably benign |
Het |
Pcm1 |
C |
A |
8: 41,733,114 (GRCm39) |
Q787K |
probably damaging |
Het |
Prg3 |
A |
G |
2: 84,823,334 (GRCm39) |
K170E |
possibly damaging |
Het |
Slc25a54 |
T |
C |
3: 109,019,370 (GRCm39) |
S325P |
probably damaging |
Het |
Slc44a1 |
T |
C |
4: 53,563,286 (GRCm39) |
V671A |
probably benign |
Het |
Stk-ps2 |
G |
A |
1: 46,069,081 (GRCm39) |
|
noncoding transcript |
Het |
Svep1 |
T |
G |
4: 58,084,833 (GRCm39) |
D1835A |
possibly damaging |
Het |
Tmcc3 |
A |
G |
10: 94,415,179 (GRCm39) |
T294A |
probably benign |
Het |
Tsen54 |
A |
G |
11: 115,711,237 (GRCm39) |
N62S |
probably benign |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Vmn2r18 |
G |
A |
5: 151,508,644 (GRCm39) |
A160V |
probably damaging |
Het |
Wnk4 |
T |
C |
11: 101,160,114 (GRCm39) |
V661A |
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,468,404 (GRCm39) |
Y2854C |
probably damaging |
Het |
Zfp563 |
G |
T |
17: 33,323,902 (GRCm39) |
E166* |
probably null |
Het |
Zfp687 |
T |
A |
3: 94,919,391 (GRCm39) |
N127I |
probably damaging |
Het |
Zfp958 |
T |
A |
8: 4,676,226 (GRCm39) |
|
probably null |
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 |
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'- TTCCATGACCGTGCTTATGAGG -3'
(R):5'- AGTAACTCCAATGGACAAGAATGC -3'
Sequencing Primer
(F):5'- TGTCAAAGTTGAGAAAACATACCAC -3'
(R):5'- TCCAATGGACAAGAATGCTTAATCC -3'
|
Posted On |
2015-03-18 |