Incidental Mutation 'R4272:Skp2'
| ID |
322235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skp2
|
| Ensembl Gene |
ENSMUSG00000054115 |
| Gene Name |
S-phase kinase-associated protein 2 |
| Synonyms |
FBXL1 |
| MMRRC Submission |
041644-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4272 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
9112073-9155512 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 9116947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096482]
[ENSMUST00000110585]
[ENSMUST00000190131]
|
| AlphaFold |
Q9Z0Z3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000096482
|
| SMART Domains |
Protein: ENSMUSP00000094225
Gene: ENSMUSG00000054115
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
100 |
140 |
3.7e-8 |
SMART |
|
LRR
|
205 |
229 |
1.27e2 |
SMART |
|
LRR
|
230 |
254 |
1.28e1 |
SMART |
|
LRR
|
255 |
280 |
2.91e1 |
SMART |
|
LRR
|
334 |
359 |
2.83e1 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000110585
|
| SMART Domains |
Protein: ENSMUSP00000106215
Gene: ENSMUSG00000054115
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
100 |
140 |
3.7e-8 |
SMART |
|
Blast:LRR
|
205 |
229 |
5e-7 |
BLAST |
|
Blast:LRR
|
229 |
253 |
3e-7 |
BLAST |
|
Blast:LRR
|
255 |
284 |
3e-10 |
BLAST |
|
Blast:LRR
|
309 |
334 |
3e-8 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190131
|
| SMART Domains |
Protein: ENSMUSP00000139997
Gene: ENSMUSG00000054115
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
65 |
105 |
2.3e-10 |
SMART |
|
LRR
|
170 |
194 |
5.3e-1 |
SMART |
|
LRR
|
195 |
219 |
5.3e-2 |
SMART |
|
LRR
|
220 |
245 |
1.2e-1 |
SMART |
|
LRR
|
299 |
324 |
1.2e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.9585 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body weight, enlarged cell and nuclear sizes, polyploidy, reduced cell growth rate, overduplication of centrosomes, increased apoptosis rate, delayed wound healing, and aberrant immunoglobulin V(D)J recombination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
T |
A |
17: 43,021,013 (GRCm39) |
T604S |
probably damaging |
Het |
| Ago3 |
T |
A |
4: 126,248,884 (GRCm39) |
T556S |
possibly damaging |
Het |
| Arap2 |
T |
C |
5: 62,828,322 (GRCm39) |
I950V |
possibly damaging |
Het |
| Arl5b |
A |
G |
2: 15,077,990 (GRCm39) |
E105G |
probably damaging |
Het |
| Capza3 |
A |
G |
6: 139,988,264 (GRCm39) |
I288V |
probably benign |
Het |
| Chka |
G |
A |
19: 3,925,737 (GRCm39) |
|
probably benign |
Het |
| Cnpy4 |
G |
T |
5: 138,190,853 (GRCm39) |
V159F |
probably damaging |
Het |
| Crb1 |
T |
C |
1: 139,251,049 (GRCm39) |
I301V |
probably benign |
Het |
| Disp1 |
T |
A |
1: 182,869,208 (GRCm39) |
I1071F |
possibly damaging |
Het |
| Dlec1 |
C |
T |
9: 118,972,231 (GRCm39) |
A1417V |
probably damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,073,038 (GRCm39) |
S686T |
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,149,775 (GRCm39) |
S411P |
probably damaging |
Het |
| Efnb2 |
T |
A |
8: 8,670,698 (GRCm39) |
S301C |
probably damaging |
Het |
| Enpp4 |
T |
C |
17: 44,412,698 (GRCm39) |
N279D |
probably benign |
Het |
| Exoc3 |
A |
G |
13: 74,340,763 (GRCm39) |
V347A |
probably damaging |
Het |
| Ezh1 |
A |
G |
11: 101,085,734 (GRCm39) |
F641S |
probably damaging |
Het |
| Gcgr |
T |
A |
11: 120,429,250 (GRCm39) |
|
probably benign |
Het |
| Gm4887 |
G |
T |
7: 104,470,535 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Htt |
G |
A |
5: 35,006,413 (GRCm39) |
V1441I |
possibly damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,810,818 (GRCm39) |
Y422H |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,120,044 (GRCm39) |
M1398V |
probably benign |
Het |
| Lrrc15 |
T |
C |
16: 30,092,673 (GRCm39) |
N222S |
probably benign |
Het |
| Mctp2 |
A |
T |
7: 71,909,079 (GRCm39) |
V78E |
possibly damaging |
Het |
| Medag |
A |
G |
5: 149,345,628 (GRCm39) |
Y103C |
probably damaging |
Het |
| Mphosph9 |
G |
A |
5: 124,442,266 (GRCm39) |
P361S |
probably damaging |
Het |
| Npffr2 |
G |
A |
5: 89,715,882 (GRCm39) |
V70M |
probably damaging |
Het |
| Obox3-ps8 |
A |
C |
17: 36,763,909 (GRCm39) |
|
noncoding transcript |
Het |
| Or4c117 |
A |
G |
2: 88,955,706 (GRCm39) |
V123A |
probably damaging |
Het |
| Pdgfra |
G |
A |
5: 75,343,731 (GRCm39) |
V751I |
probably benign |
Het |
| Phykpl |
T |
C |
11: 51,476,355 (GRCm39) |
L25P |
probably damaging |
Het |
| Rgl1 |
A |
T |
1: 152,412,040 (GRCm39) |
I443N |
probably benign |
Het |
| Riok3 |
AGAAGCGG |
AG |
18: 12,268,998 (GRCm39) |
|
probably benign |
Het |
| Rragd |
T |
C |
4: 32,996,099 (GRCm39) |
|
probably null |
Het |
| Rtcb |
A |
T |
10: 85,793,483 (GRCm39) |
M30K |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,415,533 (GRCm39) |
C280S |
probably damaging |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Slc52a3 |
T |
A |
2: 151,847,660 (GRCm39) |
I256N |
possibly damaging |
Het |
| Sycp2 |
A |
T |
2: 178,000,017 (GRCm39) |
D986E |
probably benign |
Het |
| Tas1r1 |
T |
C |
4: 152,116,614 (GRCm39) |
E340G |
possibly damaging |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Trhr |
G |
A |
15: 44,060,620 (GRCm39) |
V47I |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,769,476 (GRCm39) |
N749K |
probably damaging |
Het |
| Ttc27 |
T |
A |
17: 75,147,355 (GRCm39) |
W636R |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,608,691 (GRCm39) |
R17775L |
probably damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,402,106 (GRCm39) |
F394S |
probably benign |
Het |
| Zfp52 |
C |
A |
17: 21,780,459 (GRCm39) |
Y102* |
probably null |
Het |
| Zyx |
A |
G |
6: 42,327,880 (GRCm39) |
D70G |
probably damaging |
Het |
|
| Other mutations in Skp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00841:Skp2
|
APN |
15 |
9,139,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02135:Skp2
|
APN |
15 |
9,125,234 (GRCm39) |
missense |
probably benign |
|
|
R0050:Skp2
|
UTSW |
15 |
9,125,178 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0129:Skp2
|
UTSW |
15 |
9,125,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Skp2
|
UTSW |
15 |
9,127,971 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0238:Skp2
|
UTSW |
15 |
9,127,971 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1404:Skp2
|
UTSW |
15 |
9,117,012 (GRCm39) |
nonsense |
probably null |
|
|
R1404:Skp2
|
UTSW |
15 |
9,117,012 (GRCm39) |
nonsense |
probably null |
|
|
R1503:Skp2
|
UTSW |
15 |
9,127,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1660:Skp2
|
UTSW |
15 |
9,125,201 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1746:Skp2
|
UTSW |
15 |
9,139,530 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2031:Skp2
|
UTSW |
15 |
9,113,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2034:Skp2
|
UTSW |
15 |
9,113,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2087:Skp2
|
UTSW |
15 |
9,113,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2088:Skp2
|
UTSW |
15 |
9,113,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2090:Skp2
|
UTSW |
15 |
9,113,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Skp2
|
UTSW |
15 |
9,113,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4428:Skp2
|
UTSW |
15 |
9,117,034 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4747:Skp2
|
UTSW |
15 |
9,113,927 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5734:Skp2
|
UTSW |
15 |
9,139,566 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6963:Skp2
|
UTSW |
15 |
9,139,515 (GRCm39) |
splice site |
probably null |
|
|
R7452:Skp2
|
UTSW |
15 |
9,113,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7481:Skp2
|
UTSW |
15 |
9,113,905 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7855:Skp2
|
UTSW |
15 |
9,122,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7989:Skp2
|
UTSW |
15 |
9,127,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8046:Skp2
|
UTSW |
15 |
9,139,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8497:Skp2
|
UTSW |
15 |
9,127,971 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9062:Skp2
|
UTSW |
15 |
9,113,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTCCTTCACAGACACTAGG -3'
(R):5'- CCTAAAGCAGGGATTAAGCAGC -3'
Sequencing Primer
(F):5'- CTAGGATAGCATTCTAAGACAGTAGC -3'
(R):5'- CAGGGATTAAGCAGCAGTACTCTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation