Incidental Mutation 'IGL03046:Spock3'
ID |
391861 |
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03046 (G1)
|
Quality Score |
145 |
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 G
at 63802018 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 |
|
Meta Mutation Damage Score |
0.9488 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
98% (54/55) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,636,282 (GRCm39) |
M717K |
probably benign |
Het |
Acad12 |
C |
A |
5: 121,748,029 (GRCm39) |
V130L |
probably benign |
Het |
Cdca2 |
T |
C |
14: 67,937,471 (GRCm39) |
|
probably benign |
Het |
Cfap100 |
T |
A |
6: 90,389,332 (GRCm39) |
|
probably null |
Het |
Cfap43 |
T |
A |
19: 47,804,302 (GRCm39) |
E298V |
probably damaging |
Het |
Cic |
C |
T |
7: 24,990,500 (GRCm39) |
P1971S |
probably damaging |
Het |
Cnga1 |
T |
C |
5: 72,761,681 (GRCm39) |
D611G |
probably benign |
Het |
Daglb |
C |
T |
5: 143,486,948 (GRCm39) |
P522L |
probably damaging |
Het |
Dclre1b |
A |
T |
3: 103,710,597 (GRCm39) |
I438K |
probably benign |
Het |
Ddx5 |
C |
A |
11: 106,675,871 (GRCm39) |
R273M |
probably damaging |
Het |
Eepd1 |
C |
T |
9: 25,393,981 (GRCm39) |
L82F |
probably damaging |
Het |
Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
Exoc6 |
T |
C |
19: 37,582,217 (GRCm39) |
|
probably null |
Het |
Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
Foxs1 |
T |
C |
2: 152,774,484 (GRCm39) |
T190A |
probably benign |
Het |
Gje1 |
A |
G |
10: 14,592,374 (GRCm39) |
L136P |
probably damaging |
Het |
Hdac11 |
A |
G |
6: 91,145,827 (GRCm39) |
T176A |
probably benign |
Het |
Hhip |
C |
A |
8: 80,698,967 (GRCm39) |
V700L |
probably damaging |
Het |
Hps5 |
T |
C |
7: 46,426,463 (GRCm39) |
|
probably benign |
Het |
Itgb1bp1 |
T |
C |
12: 21,329,436 (GRCm39) |
S13G |
unknown |
Het |
Kcna1 |
A |
T |
6: 126,619,148 (GRCm39) |
L391M |
possibly damaging |
Het |
Kif1a |
C |
T |
1: 93,010,128 (GRCm39) |
V6M |
probably damaging |
Het |
Klhl6 |
T |
C |
16: 19,801,639 (GRCm39) |
I39V |
probably benign |
Het |
Lpcat4 |
C |
A |
2: 112,072,334 (GRCm39) |
|
silent |
Het |
Ltn1 |
A |
T |
16: 87,202,509 (GRCm39) |
S1047R |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,694,495 (GRCm39) |
T1073A |
possibly damaging |
Het |
Megf10 |
G |
T |
18: 57,421,055 (GRCm39) |
A898S |
possibly damaging |
Het |
Mtmr6 |
T |
C |
14: 60,529,577 (GRCm39) |
|
probably null |
Het |
Mtnr1b |
T |
C |
9: 15,774,059 (GRCm39) |
I333M |
probably benign |
Het |
Muc5ac |
G |
T |
7: 141,348,950 (GRCm39) |
C463F |
probably benign |
Het |
Mycbpap |
G |
T |
11: 94,396,543 (GRCm39) |
T99N |
possibly damaging |
Het |
Myo7a |
C |
T |
7: 97,728,534 (GRCm39) |
C824Y |
probably damaging |
Het |
N4bp2 |
A |
G |
5: 65,948,303 (GRCm39) |
H311R |
probably damaging |
Het |
Nepro |
T |
A |
16: 44,552,509 (GRCm39) |
|
probably benign |
Het |
Nop56 |
A |
T |
2: 130,117,489 (GRCm39) |
|
probably benign |
Het |
Nup210 |
A |
G |
6: 90,995,978 (GRCm39) |
|
probably benign |
Het |
Or4d10c |
A |
G |
19: 12,065,391 (GRCm39) |
V255A |
probably damaging |
Het |
Or7g25 |
T |
A |
9: 19,160,441 (GRCm39) |
I85F |
probably damaging |
Het |
Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
Pgap6 |
A |
T |
17: 26,338,414 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
T |
G |
1: 20,607,589 (GRCm39) |
D1089A |
possibly damaging |
Het |
Plb1 |
A |
G |
5: 32,485,756 (GRCm39) |
R847G |
probably damaging |
Het |
Pou6f2 |
A |
G |
13: 18,303,612 (GRCm39) |
|
probably benign |
Het |
Prss43 |
C |
G |
9: 110,660,049 (GRCm39) |
S371C |
probably benign |
Het |
Ralgapa1 |
A |
T |
12: 55,741,942 (GRCm39) |
V1322D |
probably damaging |
Het |
Rrp8 |
A |
G |
7: 105,384,109 (GRCm39) |
V131A |
probably benign |
Het |
Rtp1 |
A |
T |
16: 23,248,044 (GRCm39) |
K39M |
probably benign |
Het |
Sanbr |
A |
T |
11: 23,565,150 (GRCm39) |
L279Q |
possibly damaging |
Het |
Slc1a6 |
A |
G |
10: 78,636,008 (GRCm39) |
I358V |
probably benign |
Het |
Slc25a15 |
T |
C |
8: 22,885,726 (GRCm39) |
|
probably benign |
Het |
Slc43a1 |
G |
A |
2: 84,684,897 (GRCm39) |
|
probably benign |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Tbc1d7 |
T |
C |
13: 43,308,162 (GRCm39) |
|
probably null |
Het |
Tmem184c |
C |
T |
8: 78,326,286 (GRCm39) |
W260* |
probably null |
Het |
Trnau1ap |
A |
G |
4: 132,039,252 (GRCm39) |
Y265H |
probably damaging |
Het |
Usp25 |
T |
C |
16: 76,871,754 (GRCm39) |
F363S |
probably damaging |
Het |
Vcl |
T |
C |
14: 21,072,085 (GRCm39) |
F817L |
possibly damaging |
Het |
Vmn1r13 |
T |
A |
6: 57,187,717 (GRCm39) |
M292K |
probably benign |
Het |
Xpc |
G |
T |
6: 91,487,463 (GRCm39) |
A89E |
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 |
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 |
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'- AGCATGAGTCTTACGGTGATG -3'
(R):5'- ATGCCCAAATAGACACTTCTGC -3'
Sequencing Primer
(F):5'- GTGATGAAAATACTTGCTTGAGGC -3'
(R):5'- GCCCAAATAGACACTTCTGCTGATTC -3'
|
Posted On |
2016-06-07 |