Incidental Mutation 'R7970:Spock3'
| ID |
650561 |
| 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 |
046013-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7970 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
63404043-63810137 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63798749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 254
(F254L)
|
| 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: F257L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000091192
Gene: ENSMUSG00000054162
AA Change: F257L
| 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: F254L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113797
Gene: ENSMUSG00000054162
AA Change: F254L
| 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: F257L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113683
Gene: ENSMUSG00000054162
AA Change: F257L
| 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: F257L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112930
Gene: ENSMUSG00000054162
AA Change: F257L
| 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 |
0.7779 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (57/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
A |
G |
4: 49,449,266 (GRCm39) |
F167L |
probably damaging |
Het |
| Acsbg2 |
A |
G |
17: 57,156,728 (GRCm39) |
Y437H |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Anapc2 |
T |
C |
2: 25,163,299 (GRCm39) |
S179P |
possibly damaging |
Het |
| Aopep |
A |
G |
13: 63,180,974 (GRCm39) |
N312S |
probably benign |
Het |
| Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
| Arrdc4 |
G |
A |
7: 68,390,820 (GRCm39) |
P307S |
probably damaging |
Het |
| B3gnt2 |
T |
C |
11: 22,786,255 (GRCm39) |
Y311C |
probably damaging |
Het |
| Brf1 |
T |
C |
12: 112,927,820 (GRCm39) |
D453G |
probably damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dst |
G |
T |
1: 34,221,828 (GRCm39) |
C2544F |
possibly damaging |
Het |
| Efhc1 |
C |
T |
1: 21,022,019 (GRCm39) |
T21M |
probably benign |
Het |
| Efs |
A |
G |
14: 55,157,960 (GRCm39) |
|
probably null |
Het |
| Elp1 |
A |
T |
4: 56,771,466 (GRCm39) |
Y944N |
probably damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Fam171a2 |
A |
T |
11: 102,328,692 (GRCm39) |
V689E |
possibly damaging |
Het |
| Fam184a |
T |
C |
10: 53,575,421 (GRCm39) |
T63A |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,831,467 (GRCm39) |
D2897G |
unknown |
Het |
| Fbxw11 |
T |
G |
11: 32,672,101 (GRCm39) |
S224A |
probably benign |
Het |
| Flnc |
G |
T |
6: 29,447,525 (GRCm39) |
E1109D |
possibly damaging |
Het |
| Foxn4 |
A |
G |
5: 114,401,068 (GRCm39) |
|
probably null |
Het |
| Gm19410 |
A |
G |
8: 36,282,801 (GRCm39) |
E2009G |
probably benign |
Het |
| Gm9958 |
A |
G |
5: 90,515,568 (GRCm39) |
|
probably benign |
Het |
| Gprin3 |
C |
T |
6: 59,330,150 (GRCm39) |
R719Q |
possibly damaging |
Het |
| Grip2 |
A |
T |
6: 91,763,513 (GRCm39) |
I147N |
probably benign |
Het |
| H2-DMb2 |
A |
G |
17: 34,369,572 (GRCm39) |
R239G |
probably benign |
Het |
| Hydin |
A |
C |
8: 111,035,723 (GRCm39) |
D138A |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lgr6 |
A |
G |
1: 134,921,723 (GRCm39) |
I484T |
probably benign |
Het |
| Mkrn2 |
T |
A |
6: 115,594,269 (GRCm39) |
C327S |
probably damaging |
Het |
| Mnt |
C |
T |
11: 74,733,036 (GRCm39) |
A288V |
probably damaging |
Het |
| Nckap5 |
T |
A |
1: 125,952,758 (GRCm39) |
K1265* |
probably null |
Het |
| Ncoa3 |
A |
T |
2: 165,893,277 (GRCm39) |
H194L |
probably benign |
Het |
| Ogn |
A |
T |
13: 49,762,742 (GRCm39) |
H28L |
probably benign |
Het |
| Or56a41 |
C |
A |
7: 104,740,556 (GRCm39) |
V97L |
probably benign |
Het |
| Or5b101 |
T |
A |
19: 13,005,058 (GRCm39) |
I212F |
probably damaging |
Het |
| Or9m1b |
A |
T |
2: 87,836,169 (GRCm39) |
F309I |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,764,492 (GRCm39) |
S1037P |
|
Het |
| Phlpp1 |
T |
A |
1: 106,101,015 (GRCm39) |
Y428N |
probably damaging |
Het |
| Ptpre |
A |
G |
7: 135,280,048 (GRCm39) |
T591A |
possibly damaging |
Het |
| Rtn1 |
A |
T |
12: 72,355,648 (GRCm39) |
D99E |
probably benign |
Het |
| Scn7a |
A |
T |
2: 66,506,173 (GRCm39) |
I1572N |
probably damaging |
Het |
| Sema3a |
T |
A |
5: 13,649,375 (GRCm39) |
M708K |
possibly damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
| Slc9a2 |
T |
C |
1: 40,765,374 (GRCm39) |
Y255H |
probably damaging |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| St6galnac2 |
T |
C |
11: 116,581,169 (GRCm39) |
D51G |
probably benign |
Het |
| Stard13 |
T |
A |
5: 150,986,726 (GRCm39) |
K261N |
possibly damaging |
Het |
| Tlk1 |
T |
C |
2: 70,582,644 (GRCm39) |
R162G |
possibly damaging |
Het |
| Tlr2 |
T |
C |
3: 83,745,201 (GRCm39) |
D294G |
probably benign |
Het |
| Tnks |
A |
G |
8: 35,323,080 (GRCm39) |
|
probably null |
Het |
| Trip4 |
A |
G |
9: 65,746,298 (GRCm39) |
S533P |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,258,223 (GRCm39) |
W1674R |
probably damaging |
Het |
| Tut4 |
G |
A |
4: 108,343,651 (GRCm39) |
S221N |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,530,186 (GRCm39) |
N74D |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,343,330 (GRCm39) |
Y570H |
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 |
|
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'- GATGACTGATTAGGAACAGATGTTGTC -3'
(R):5'- ACCTTGCTGTCTCTGGAAAC -3'
Sequencing Primer
(F):5'- GCTAATAGACGTTGAAAAACTTCCC -3'
(R):5'- TGGTGCACTGCTCATTCT -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation