Incidental Mutation 'R5734:Skp2'
| ID |
451606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skp2
|
| Ensembl Gene |
ENSMUSG00000054115 |
| Gene Name |
S-phase kinase-associated protein 2 |
| Synonyms |
FBXL1 |
| MMRRC Submission |
043348-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5734 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
9112073-9155512 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9139566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 43
(D43G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090380]
[ENSMUST00000096482]
[ENSMUST00000110585]
[ENSMUST00000190131]
[ENSMUST00000227556]
|
| AlphaFold |
Q9Z0Z3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090380
|
| SMART Domains |
Protein: ENSMUSP00000087858
Gene: ENSMUSG00000039704
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LMBR1
|
8 |
546 |
4.2e-192 |
PFAM |
|
low complexity region
|
574 |
598 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096482
AA Change: D78G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000094225
Gene: ENSMUSG00000054115
AA Change: D78G
| 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 |
possibly damaging
Transcript: ENSMUST00000110585
AA Change: D78G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106215
Gene: ENSMUSG00000054115
AA Change: D78G
| 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 |
possibly damaging
Transcript: ENSMUST00000190131
AA Change: D43G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139997
Gene: ENSMUSG00000054115
AA Change: D43G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191316
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227556
|
| Meta Mutation Damage Score |
0.1116 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.8%
|
| Validation Efficiency |
98% (61/62) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
A |
G |
9: 46,215,303 (GRCm39) |
|
probably benign |
Het |
| Abcc9 |
A |
G |
6: 142,571,457 (GRCm39) |
|
probably benign |
Het |
| Adamts2 |
G |
A |
11: 50,679,494 (GRCm39) |
G825R |
probably damaging |
Het |
| Adgre1 |
A |
T |
17: 57,750,990 (GRCm39) |
R555W |
probably benign |
Het |
| Apob |
T |
A |
12: 8,038,781 (GRCm39) |
V398D |
probably damaging |
Het |
| Arid4b |
A |
G |
13: 14,334,856 (GRCm39) |
N355S |
probably benign |
Het |
| Asb3 |
G |
T |
11: 30,979,021 (GRCm39) |
D143Y |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,925,419 (GRCm39) |
|
probably benign |
Het |
| Cacna1a |
A |
G |
8: 85,310,360 (GRCm39) |
M1425V |
probably damaging |
Het |
| Capn9 |
A |
G |
8: 125,332,583 (GRCm39) |
E474G |
probably damaging |
Het |
| Capza2 |
T |
C |
6: 17,660,764 (GRCm39) |
S155P |
probably damaging |
Het |
| Ccdc125 |
A |
G |
13: 100,823,622 (GRCm39) |
N202S |
possibly damaging |
Het |
| Ccn1 |
A |
G |
3: 145,354,023 (GRCm39) |
C256R |
probably damaging |
Het |
| Chrm5 |
T |
A |
2: 112,310,445 (GRCm39) |
T224S |
probably benign |
Het |
| Chtop |
C |
T |
3: 90,409,422 (GRCm39) |
|
probably null |
Het |
| Clip1 |
T |
C |
5: 123,753,217 (GRCm39) |
|
probably benign |
Het |
| Dbx2 |
T |
C |
15: 95,552,604 (GRCm39) |
T14A |
possibly damaging |
Het |
| Dcaf8 |
T |
C |
1: 172,000,478 (GRCm39) |
V212A |
possibly damaging |
Het |
| Fam114a1 |
T |
C |
5: 65,166,389 (GRCm39) |
M240T |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,504,246 (GRCm39) |
Y4580H |
probably damaging |
Het |
| Glipr1 |
G |
A |
10: 111,821,698 (GRCm39) |
R200* |
probably null |
Het |
| Gm6408 |
A |
T |
5: 146,419,192 (GRCm39) |
Y69F |
probably benign |
Het |
| Gpt2 |
T |
C |
8: 86,249,885 (GRCm39) |
S456P |
probably benign |
Het |
| Kat8 |
T |
C |
7: 127,519,751 (GRCm39) |
F225S |
probably benign |
Het |
| Lactb2 |
T |
A |
1: 13,730,611 (GRCm39) |
N22Y |
probably damaging |
Het |
| Lin28a |
A |
T |
4: 133,735,284 (GRCm39) |
C67* |
probably null |
Het |
| Mtarc2 |
T |
C |
1: 184,564,786 (GRCm39) |
E155G |
probably benign |
Het |
| Myoz3 |
G |
A |
18: 60,712,543 (GRCm39) |
T104M |
possibly damaging |
Het |
| Nek9 |
C |
T |
12: 85,350,289 (GRCm39) |
M928I |
probably benign |
Het |
| Nlrp9a |
G |
C |
7: 26,270,065 (GRCm39) |
A831P |
probably damaging |
Het |
| Nop53 |
T |
C |
7: 15,679,887 (GRCm39) |
|
probably null |
Het |
| Ofcc1 |
T |
A |
13: 40,241,325 (GRCm39) |
T728S |
probably damaging |
Het |
| Pabpc4l |
T |
A |
3: 46,401,124 (GRCm39) |
|
probably null |
Het |
| Rbm34 |
T |
C |
8: 127,696,880 (GRCm39) |
|
probably null |
Het |
| Relch |
T |
C |
1: 105,631,608 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
C |
T |
16: 74,149,672 (GRCm39) |
C52Y |
probably damaging |
Het |
| Rpgr |
G |
A |
X: 10,032,511 (GRCm39) |
P857L |
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,548,066 (GRCm39) |
Y57C |
possibly damaging |
Het |
| Selp |
C |
T |
1: 163,971,460 (GRCm39) |
|
probably benign |
Het |
| Smad5 |
T |
A |
13: 56,871,617 (GRCm39) |
S71T |
probably damaging |
Het |
| Sorcs1 |
G |
T |
19: 50,171,213 (GRCm39) |
H892N |
probably benign |
Het |
| Sox6 |
C |
T |
7: 115,140,856 (GRCm39) |
|
probably null |
Het |
| St3gal1 |
A |
T |
15: 66,978,522 (GRCm39) |
I333N |
probably damaging |
Het |
| Tex15 |
C |
A |
8: 34,036,364 (GRCm39) |
Q97K |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,917,884 (GRCm39) |
T2266S |
possibly damaging |
Het |
| Tpbgl |
C |
A |
7: 99,274,949 (GRCm39) |
G303C |
probably damaging |
Het |
| Trat1 |
A |
T |
16: 48,555,304 (GRCm39) |
S143T |
possibly damaging |
Het |
| Trpm8 |
T |
A |
1: 88,283,002 (GRCm39) |
V763E |
probably benign |
Het |
| Ttc21a |
G |
A |
9: 119,795,732 (GRCm39) |
D1189N |
probably benign |
Het |
| Usp7 |
T |
C |
16: 8,519,845 (GRCm39) |
N178D |
possibly damaging |
Het |
| Zfp217 |
T |
C |
2: 169,961,064 (GRCm39) |
D421G |
possibly damaging |
Het |
| Zfp382 |
T |
C |
7: 29,833,855 (GRCm39) |
F502S |
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 |
|
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'- CACCAAAACTAGGCAATTTTAGGC -3'
(R):5'- AAGCACCTTCAGGAGATTCCG -3'
Sequencing Primer
(F):5'- GGCAATTTTAGGCACCGATC -3'
(R):5'- TTCAGGAGATTCCGGACCAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation