Incidental Mutation 'R1404:Skp2'
| ID |
188671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skp2
|
| Ensembl Gene |
ENSMUSG00000054115 |
| Gene Name |
S-phase kinase-associated protein 2 |
| Synonyms |
FBXL1 |
| MMRRC Submission |
039466-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1404 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
9112073-9155512 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 9117012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 298
(Q298*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096482]
[ENSMUST00000110585]
[ENSMUST00000190131]
|
| AlphaFold |
Q9Z0Z3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000096482
AA Change: Q333*
|
| SMART Domains |
Protein: ENSMUSP00000094225
Gene: ENSMUSG00000054115
AA Change: Q333*
| 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
AA Change: Q333*
|
| SMART Domains |
Protein: ENSMUSP00000106215
Gene: ENSMUSG00000054115
AA Change: Q333*
| 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
AA Change: Q298*
|
| SMART Domains |
Protein: ENSMUSP00000139997
Gene: ENSMUSG00000054115
AA Change: Q298*
| 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 |
0.9756 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
100% (28/28) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
A |
4: 53,059,253 (GRCm39) |
|
probably benign |
Het |
| Actl6a |
T |
C |
3: 32,776,759 (GRCm39) |
|
probably benign |
Het |
| Aoc1l1 |
A |
T |
6: 48,952,767 (GRCm39) |
T231S |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,385,371 (GRCm39) |
|
probably benign |
Het |
| Arrdc3 |
A |
G |
13: 81,031,973 (GRCm39) |
T69A |
probably damaging |
Het |
| Bbs2 |
T |
C |
8: 94,808,627 (GRCm39) |
K360R |
probably null |
Het |
| Cdh8 |
A |
T |
8: 100,006,250 (GRCm39) |
N112K |
probably damaging |
Het |
| Ces5a |
A |
T |
8: 94,228,809 (GRCm39) |
F474I |
probably damaging |
Het |
| Dync1i1 |
G |
A |
6: 5,915,876 (GRCm39) |
D253N |
probably damaging |
Het |
| Fam151b |
T |
C |
13: 92,610,480 (GRCm39) |
D103G |
probably damaging |
Het |
| Fam227b |
A |
G |
2: 125,845,759 (GRCm39) |
L410P |
probably damaging |
Het |
| Ihh |
A |
T |
1: 74,990,372 (GRCm39) |
M1K |
probably null |
Het |
| Itga6 |
A |
G |
2: 71,669,060 (GRCm39) |
T617A |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,363,609 (GRCm39) |
C744S |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,081,311 (GRCm39) |
I208V |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,937,387 (GRCm39) |
K659R |
probably benign |
Het |
| Lpin3 |
T |
A |
2: 160,734,310 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
A |
4: 123,270,309 (GRCm39) |
E6612V |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,643,833 (GRCm39) |
K330E |
probably benign |
Het |
| Neb |
C |
T |
2: 52,073,287 (GRCm39) |
D1975N |
possibly damaging |
Het |
| Nell1 |
T |
A |
7: 50,503,621 (GRCm39) |
N675K |
possibly damaging |
Het |
| Nlrp6 |
GAGAAGAAGAAGAAGAAGAAGA |
GAGAAGAAGAAGAAGAAGA |
7: 140,504,026 (GRCm39) |
|
probably benign |
Het |
| Or4f47 |
G |
A |
2: 111,972,968 (GRCm39) |
R226H |
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,625,003 (GRCm39) |
E737G |
possibly damaging |
Het |
| Sardh |
C |
A |
2: 27,129,473 (GRCm39) |
W275L |
probably damaging |
Het |
| Sel1l2 |
C |
T |
2: 140,071,979 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,176,712 (GRCm39) |
H1185Y |
probably damaging |
Het |
| Spag16 |
G |
A |
1: 69,934,439 (GRCm39) |
|
probably benign |
Het |
| Spink14 |
A |
G |
18: 44,161,896 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Stx12 |
T |
A |
4: 132,598,960 (GRCm39) |
I43L |
probably benign |
Het |
| Tmc1 |
T |
A |
19: 20,793,548 (GRCm39) |
I538F |
possibly damaging |
Het |
| Tollip |
T |
C |
7: 141,438,292 (GRCm39) |
M209V |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,643,312 (GRCm39) |
S13202R |
probably damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,786,211 (GRCm39) |
V338D |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,263,471 (GRCm39) |
L767P |
probably damaging |
Het |
| Zfp202 |
C |
T |
9: 40,122,792 (GRCm39) |
T518I |
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 |
|
|
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 |
|
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'- CCTGGGCATTTTGTGGCACATC -3'
(R):5'- CGGCAGGAAACTTCTATGTTGGGAC -3'
Sequencing Primer
(F):5'- GGCATTTTGTGGCACATCAATATC -3'
(R):5'- GACCATGACCATGACATCTGTTTG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation