Incidental Mutation 'R8497:Skp2'
| ID |
658342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skp2
|
| Ensembl Gene |
ENSMUSG00000054115 |
| Gene Name |
S-phase kinase-associated protein 2 |
| Synonyms |
FBXL1 |
| MMRRC Submission |
067939-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8497 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
9112073-9155512 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 9127971 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 |
probably null
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 |
0.9498 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
T |
19: 31,923,250 (GRCm39) |
H509Y |
probably benign |
Het |
| Afm |
A |
T |
5: 90,699,202 (GRCm39) |
|
probably null |
Het |
| Apc |
G |
A |
18: 34,446,083 (GRCm39) |
C975Y |
possibly damaging |
Het |
| Ash1l |
G |
T |
3: 88,914,951 (GRCm39) |
M1860I |
probably benign |
Het |
| Bdkrb1 |
C |
T |
12: 105,570,463 (GRCm39) |
Q10* |
probably null |
Het |
| Bphl |
A |
G |
13: 34,221,706 (GRCm39) |
K21E |
possibly damaging |
Het |
| Cadps2 |
T |
C |
6: 23,355,918 (GRCm39) |
N837D |
probably benign |
Het |
| Cat |
C |
G |
2: 103,287,221 (GRCm39) |
A470P |
probably damaging |
Het |
| Cdc34 |
G |
T |
10: 79,520,845 (GRCm39) |
D11Y |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,387,320 (GRCm39) |
E1936G |
probably damaging |
Het |
| Cnot6 |
A |
T |
11: 49,566,191 (GRCm39) |
N501K |
possibly damaging |
Het |
| Cyth3 |
A |
C |
5: 143,678,328 (GRCm39) |
D44A |
probably benign |
Het |
| Dchs1 |
C |
T |
7: 105,408,168 (GRCm39) |
G1888D |
probably damaging |
Het |
| Ffar1 |
T |
G |
7: 30,560,334 (GRCm39) |
I188L |
probably benign |
Het |
| Fhip1b |
G |
T |
7: 105,030,396 (GRCm39) |
D820E |
probably damaging |
Het |
| Gpr17 |
A |
G |
18: 32,080,173 (GRCm39) |
Y297H |
probably damaging |
Het |
| H2-M10.5 |
A |
C |
17: 37,084,729 (GRCm39) |
E151A |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,455,990 (GRCm39) |
R5310K |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,313,357 (GRCm39) |
L3522P |
possibly damaging |
Het |
| Hs2st1 |
T |
G |
3: 144,140,452 (GRCm39) |
T290P |
probably damaging |
Het |
| Il5ra |
G |
A |
6: 106,715,066 (GRCm39) |
L231F |
probably benign |
Het |
| Itgav |
T |
A |
2: 83,615,805 (GRCm39) |
C529S |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,875,179 (GRCm39) |
R376S |
probably benign |
Het |
| Lrrcc1 |
A |
G |
3: 14,605,044 (GRCm39) |
D138G |
possibly damaging |
Het |
| Mat1a |
C |
T |
14: 40,843,851 (GRCm39) |
R357W |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mtss2 |
T |
C |
8: 111,465,222 (GRCm39) |
V492A |
possibly damaging |
Het |
| Nalcn |
A |
G |
14: 123,752,771 (GRCm39) |
V330A |
probably damaging |
Het |
| Neu3 |
A |
T |
7: 99,472,342 (GRCm39) |
|
probably null |
Het |
| Nfx1 |
A |
G |
4: 40,976,968 (GRCm39) |
D214G |
possibly damaging |
Het |
| Or2a14 |
T |
C |
6: 43,130,818 (GRCm39) |
L193P |
probably damaging |
Het |
| Or2y17 |
G |
A |
11: 49,231,721 (GRCm39) |
D121N |
probably damaging |
Het |
| Or4f14 |
T |
A |
2: 111,742,964 (GRCm39) |
I104F |
possibly damaging |
Het |
| Or5b104 |
T |
C |
19: 13,072,707 (GRCm39) |
T102A |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,582,349 (GRCm39) |
H485L |
probably benign |
Het |
| Pdss2 |
A |
C |
10: 43,289,521 (GRCm39) |
K342T |
possibly damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,647,570 (GRCm39) |
S254P |
probably damaging |
Het |
| Prelid1 |
A |
G |
13: 55,470,833 (GRCm39) |
D87G |
probably damaging |
Het |
| Prkg1 |
C |
A |
19: 31,279,709 (GRCm39) |
C190F |
probably damaging |
Het |
| Psmb5 |
A |
G |
14: 54,851,837 (GRCm39) |
S116P |
possibly damaging |
Het |
| Rassf6 |
A |
G |
5: 90,779,391 (GRCm39) |
V14A |
possibly damaging |
Het |
| Ripk1 |
T |
C |
13: 34,211,934 (GRCm39) |
S415P |
probably damaging |
Het |
| Rnft1 |
A |
T |
11: 86,386,132 (GRCm39) |
K344* |
probably null |
Het |
| Sacs |
G |
A |
14: 61,429,702 (GRCm39) |
R587Q |
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,848,988 (GRCm39) |
K1047E |
possibly damaging |
Het |
| Spopfm2 |
T |
A |
3: 94,083,119 (GRCm39) |
I231F |
possibly damaging |
Het |
| Szt2 |
G |
A |
4: 118,245,518 (GRCm39) |
T1098I |
possibly damaging |
Het |
| Tcf20 |
A |
G |
15: 82,740,152 (GRCm39) |
M433T |
probably benign |
Het |
| Tsen54 |
T |
C |
11: 115,713,410 (GRCm39) |
F438L |
probably damaging |
Het |
| Utp23 |
C |
T |
15: 51,745,614 (GRCm39) |
T144I |
probably damaging |
Het |
| Vmn2r105 |
T |
C |
17: 20,455,134 (GRCm39) |
M1V |
probably null |
Het |
| Wdfy4 |
C |
T |
14: 32,688,356 (GRCm39) |
V2926M |
probably damaging |
Het |
| Zfp407 |
T |
C |
18: 84,578,021 (GRCm39) |
K1031E |
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 |
|
R4272:Skp2
|
UTSW |
15 |
9,116,947 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
R9062:Skp2
|
UTSW |
15 |
9,113,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGACTCCTCTCATCTGACTG -3'
(R):5'- AGTACTGAGAGCTTTGTGGC -3'
Sequencing Primer
(F):5'- CATCTGACTGTGAGGCGACTTC -3'
(R):5'- ATGCTACACGCTTGCTGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation