Incidental Mutation 'R2031:Skp2'
| ID |
221283 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skp2
|
| Ensembl Gene |
ENSMUSG00000054115 |
| Gene Name |
S-phase kinase-associated protein 2 |
| Synonyms |
FBXL1 |
| MMRRC Submission |
040038-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2031 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
9112073-9155512 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 9113786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 376
(G376C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067760]
[ENSMUST00000096482]
[ENSMUST00000100789]
[ENSMUST00000100790]
[ENSMUST00000110585]
[ENSMUST00000190131]
|
| AlphaFold |
Q9Z0Z3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067760
|
| SMART Domains |
Protein: ENSMUSP00000068318
Gene: ENSMUSG00000022253
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
|
Pfam:NAD_kinase
|
58 |
334 |
4.7e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096482
AA Change: G411C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000094225
Gene: ENSMUSG00000054115
AA Change: G411C
| 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: ENSMUST00000100789
|
| SMART Domains |
Protein: ENSMUSP00000098353
Gene: ENSMUSG00000022253
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
|
Pfam:NAD_kinase
|
58 |
171 |
8.2e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100790
|
| SMART Domains |
Protein: ENSMUSP00000098354
Gene: ENSMUSG00000022253
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
|
Pfam:NAD_kinase
|
58 |
312 |
3.9e-12 |
PFAM |
|
| Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000189437
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190131
AA Change: G376C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139997
Gene: ENSMUSG00000054115
AA Change: G376C
| 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: ENSMUST00000190591
|
| Meta Mutation Damage Score |
0.5144 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (55/56) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
G |
T |
5: 121,639,118 (GRCm39) |
N642K |
possibly damaging |
Het |
| Akap11 |
T |
A |
14: 78,747,477 (GRCm39) |
I1637L |
possibly damaging |
Het |
| Aoc1l1 |
T |
C |
6: 48,952,789 (GRCm39) |
V238A |
probably damaging |
Het |
| Arhgap28 |
G |
T |
17: 68,203,111 (GRCm39) |
T114N |
probably damaging |
Het |
| Arid5b |
A |
G |
10: 68,114,518 (GRCm39) |
|
probably null |
Het |
| Atp10a |
T |
A |
7: 58,477,678 (GRCm39) |
C1292* |
probably null |
Het |
| Casp4 |
A |
G |
9: 5,321,401 (GRCm39) |
S51G |
probably benign |
Het |
| Cast |
T |
C |
13: 74,946,771 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
T |
C |
19: 4,891,715 (GRCm39) |
F736L |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,415,370 (GRCm39) |
S1203P |
probably damaging |
Het |
| Cep290 |
G |
A |
10: 100,348,262 (GRCm39) |
|
probably null |
Het |
| Cep85 |
A |
G |
4: 133,859,761 (GRCm39) |
V634A |
probably benign |
Het |
| Cpeb3 |
C |
T |
19: 37,022,079 (GRCm39) |
R589H |
probably damaging |
Het |
| Crebrf |
T |
G |
17: 26,961,895 (GRCm39) |
S331A |
probably damaging |
Het |
| Cul5 |
A |
G |
9: 53,578,480 (GRCm39) |
V36A |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,618,297 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
G |
A |
1: 132,380,929 (GRCm39) |
A475T |
probably damaging |
Het |
| Enpp6 |
C |
A |
8: 47,506,649 (GRCm39) |
P151Q |
probably damaging |
Het |
| Fan1 |
A |
G |
7: 64,004,172 (GRCm39) |
Y765H |
probably damaging |
Het |
| Hsfy2 |
A |
T |
1: 56,675,476 (GRCm39) |
S354T |
probably benign |
Het |
| Ifi204 |
A |
C |
1: 173,580,343 (GRCm39) |
F389C |
probably damaging |
Het |
| Ikbip |
T |
C |
10: 90,932,474 (GRCm39) |
Y373H |
probably benign |
Het |
| Kbtbd11 |
C |
A |
8: 15,078,021 (GRCm39) |
P207T |
possibly damaging |
Het |
| Krt73 |
A |
C |
15: 101,707,199 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
T |
A |
1: 52,748,013 (GRCm39) |
Q284L |
probably benign |
Het |
| Mmp1b |
T |
A |
9: 7,368,607 (GRCm39) |
D415V |
possibly damaging |
Het |
| Mrc1 |
A |
T |
2: 14,326,584 (GRCm39) |
T1161S |
probably damaging |
Het |
| Ms4a18 |
A |
G |
19: 10,991,014 (GRCm39) |
S27P |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,426,028 (GRCm39) |
R2366S |
probably damaging |
Het |
| Nfkbia |
A |
G |
12: 55,537,937 (GRCm39) |
L172P |
probably damaging |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Or1d2 |
A |
G |
11: 74,255,777 (GRCm39) |
Y94C |
probably damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,341,105 (GRCm39) |
F12S |
probably damaging |
Het |
| Or4c107 |
A |
G |
2: 88,789,643 (GRCm39) |
T278A |
probably benign |
Het |
| Or51f1e |
A |
G |
7: 102,747,371 (GRCm39) |
Y141C |
probably damaging |
Het |
| Or5an10 |
A |
T |
19: 12,275,740 (GRCm39) |
V252D |
probably damaging |
Het |
| Or5b112 |
T |
C |
19: 13,319,770 (GRCm39) |
L216S |
probably benign |
Het |
| Parvb |
A |
T |
15: 84,167,036 (GRCm39) |
Y117F |
probably benign |
Het |
| Plch2 |
A |
G |
4: 155,127,484 (GRCm39) |
|
probably benign |
Het |
| Plxnb2 |
A |
T |
15: 89,047,013 (GRCm39) |
C769* |
probably null |
Het |
| Plxnc1 |
G |
T |
10: 94,779,529 (GRCm39) |
D304E |
probably benign |
Het |
| Prkg2 |
T |
C |
5: 99,172,310 (GRCm39) |
D135G |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,153,448 (GRCm39) |
D635G |
probably benign |
Het |
| Rapgef6 |
T |
G |
11: 54,443,684 (GRCm39) |
V89G |
probably benign |
Het |
| Ror2 |
T |
A |
13: 53,271,366 (GRCm39) |
T330S |
probably benign |
Het |
| Ros1 |
A |
G |
10: 51,943,164 (GRCm39) |
V2050A |
possibly damaging |
Het |
| Serpinb6e |
T |
C |
13: 34,021,733 (GRCm39) |
|
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,597,358 (GRCm39) |
V1371A |
possibly damaging |
Het |
| Syvn1 |
G |
A |
19: 6,100,560 (GRCm39) |
R317H |
probably damaging |
Het |
| Tdo2 |
T |
A |
3: 81,876,812 (GRCm39) |
D139V |
probably damaging |
Het |
| Tmem130 |
A |
G |
5: 144,689,236 (GRCm39) |
V135A |
possibly damaging |
Het |
| Tpr |
A |
T |
1: 150,317,870 (GRCm39) |
Q2126L |
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,706,062 (GRCm39) |
M324V |
possibly damaging |
Het |
| Ubxn10 |
A |
G |
4: 138,448,574 (GRCm39) |
M34T |
possibly damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,659,717 (GRCm39) |
W154R |
possibly 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 |
|
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'- GTAACACTTCGTGGCTGTCC -3'
(R):5'- TGCCATACCTCCTGGAATTTGC -3'
Sequencing Primer
(F):5'- TCGCAAATGGTTCCCTAACATAC -3'
(R):5'- CTCTTCCTTTGCAGTGAACTTGGAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation