Incidental Mutation 'R7989:Skp2'
| ID |
651654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skp2
|
| Ensembl Gene |
ENSMUSG00000054115 |
| Gene Name |
S-phase kinase-associated protein 2 |
| Synonyms |
FBXL1 |
| MMRRC Submission |
046030-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7989 (G1)
|
| Quality Score |
147.008 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
9112073-9155512 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 9127979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 129
(R129H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096482]
[ENSMUST00000110585]
[ENSMUST00000190131]
|
| AlphaFold |
Q9Z0Z3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096482
AA Change: R129H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000094225
Gene: ENSMUSG00000054115
AA Change: R129H
| 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 benign
Transcript: ENSMUST00000110585
AA Change: R129H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106215
Gene: ENSMUSG00000054115
AA Change: R129H
| 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 benign
Transcript: ENSMUST00000190131
AA Change: R94H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139997
Gene: ENSMUSG00000054115
AA Change: R94H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,875,278 (GRCm39) |
E631D |
probably benign |
Het |
| Abcc12 |
T |
C |
8: 87,232,108 (GRCm39) |
T1317A |
probably benign |
Het |
| Abcc4 |
T |
C |
14: 118,836,772 (GRCm39) |
Q663R |
probably benign |
Het |
| Arhgef28 |
G |
A |
13: 98,036,243 (GRCm39) |
T1672I |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,677,012 (GRCm39) |
D496E |
probably benign |
Het |
| Dse |
A |
T |
10: 34,029,454 (GRCm39) |
Y545* |
probably null |
Het |
| Eps8 |
C |
T |
6: 137,505,569 (GRCm39) |
R53Q |
possibly damaging |
Het |
| Fam124b |
A |
T |
1: 80,191,311 (GRCm39) |
L24Q |
probably damaging |
Het |
| Fam180a |
A |
T |
6: 35,292,273 (GRCm39) |
N44K |
probably damaging |
Het |
| Gabrg3 |
G |
T |
7: 56,374,389 (GRCm39) |
N392K |
possibly damaging |
Het |
| Gprin2 |
G |
A |
14: 33,916,661 (GRCm39) |
R370* |
probably null |
Het |
| Grhpr |
C |
T |
4: 44,989,008 (GRCm39) |
P275S |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,526,450 (GRCm39) |
Q374R |
probably benign |
Het |
| Igtp |
A |
C |
11: 58,097,205 (GRCm39) |
K125N |
probably damaging |
Het |
| Il17a |
T |
C |
1: 20,802,438 (GRCm39) |
V49A |
possibly damaging |
Het |
| Klhl12 |
T |
C |
1: 134,417,143 (GRCm39) |
S552P |
probably benign |
Het |
| Or4c15 |
T |
C |
2: 88,759,858 (GRCm39) |
D267G |
probably damaging |
Het |
| Or5d45 |
T |
A |
2: 88,153,164 (GRCm39) |
N295I |
probably damaging |
Het |
| Pkd2l1 |
A |
T |
19: 44,142,507 (GRCm39) |
C512S |
probably benign |
Het |
| Plekha7 |
G |
A |
7: 115,757,558 (GRCm39) |
P464L |
probably benign |
Het |
| Plk5 |
A |
G |
10: 80,199,899 (GRCm39) |
R469G |
probably benign |
Het |
| Pphln1 |
C |
A |
15: 93,386,960 (GRCm39) |
H353N |
possibly damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,206,166 (GRCm39) |
N341D |
probably damaging |
Het |
| Slc5a6 |
A |
G |
5: 31,199,480 (GRCm39) |
|
probably null |
Het |
| Spata31d1b |
C |
T |
13: 59,866,182 (GRCm39) |
P1110L |
possibly damaging |
Het |
| Speer4a2 |
A |
T |
5: 26,290,643 (GRCm39) |
L176Q |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,226,170 (GRCm39) |
S368P |
|
Het |
| Tiam2 |
G |
T |
17: 3,568,524 (GRCm39) |
E1557* |
probably null |
Het |
| Tmem200a |
C |
A |
10: 25,869,955 (GRCm39) |
V105F |
probably benign |
Het |
| Trbv3 |
A |
T |
6: 41,025,576 (GRCm39) |
K55N |
probably benign |
Het |
| Trio |
A |
G |
15: 27,773,021 (GRCm39) |
L1881P |
probably damaging |
Het |
| Unc13a |
G |
A |
8: 72,104,917 (GRCm39) |
R782W |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,925,126 (GRCm39) |
M117K |
|
Het |
| Zfp655 |
T |
A |
5: 145,181,380 (GRCm39) |
C413S |
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 |
|
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'- GACTCCTCTCATCTGACTGTGAG -3'
(R):5'- AGTACTGAGAGCTTTGTGGC -3'
Sequencing Primer
(F):5'- AGGCGACTTCCCTGACTTGAATG -3'
(R):5'- ATGCTACACGCTTGCTGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation