Incidental Mutation 'R2088:Skp2'
| ID |
231614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skp2
|
| Ensembl Gene |
ENSMUSG00000054115 |
| Gene Name |
S-phase kinase-associated protein 2 |
| Synonyms |
FBXL1 |
| MMRRC Submission |
040093-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2088 (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: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (66/68) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,333,265 (GRCm39) |
|
probably benign |
Het |
| Ano5 |
T |
A |
7: 51,237,454 (GRCm39) |
N759K |
possibly damaging |
Het |
| Arhgef10 |
A |
G |
8: 15,033,898 (GRCm39) |
T1072A |
possibly damaging |
Het |
| BC107364 |
T |
C |
3: 96,341,745 (GRCm39) |
T93A |
unknown |
Het |
| Canx |
C |
T |
11: 50,201,217 (GRCm39) |
E97K |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,631,126 (GRCm39) |
L62P |
probably damaging |
Het |
| Cbfa2t3 |
C |
T |
8: 123,364,725 (GRCm39) |
|
probably benign |
Het |
| Cmklr2 |
A |
T |
1: 63,222,811 (GRCm39) |
|
probably null |
Het |
| Cmya5 |
A |
T |
13: 93,229,320 (GRCm39) |
S1923T |
probably damaging |
Het |
| Cntnap1 |
T |
A |
11: 101,073,373 (GRCm39) |
I618N |
probably damaging |
Het |
| Cox17 |
C |
G |
16: 38,167,542 (GRCm39) |
P27R |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 64,708,986 (GRCm39) |
E675G |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,837,575 (GRCm39) |
L990P |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Eif2d |
T |
C |
1: 131,092,464 (GRCm39) |
V374A |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,382,033 (GRCm39) |
|
probably benign |
Het |
| Fryl |
T |
A |
5: 73,222,804 (GRCm39) |
I1926F |
probably benign |
Het |
| Galnt4 |
A |
G |
10: 98,945,046 (GRCm39) |
D257G |
probably damaging |
Het |
| Gatm |
A |
G |
2: 122,428,629 (GRCm39) |
V344A |
probably benign |
Het |
| Gli1 |
T |
G |
10: 127,167,369 (GRCm39) |
Y628S |
probably damaging |
Het |
| Gsdmc3 |
A |
C |
15: 63,732,063 (GRCm39) |
|
probably null |
Het |
| Hap1 |
T |
C |
11: 100,246,828 (GRCm39) |
T26A |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,876,895 (GRCm39) |
G1200S |
probably benign |
Het |
| Insyn1 |
T |
C |
9: 58,406,288 (GRCm39) |
F66S |
probably damaging |
Het |
| Iqgap2 |
C |
T |
13: 96,028,171 (GRCm39) |
|
probably null |
Het |
| Itga3 |
T |
A |
11: 94,943,320 (GRCm39) |
I895F |
probably benign |
Het |
| Klhl33 |
A |
T |
14: 51,130,230 (GRCm39) |
C421* |
probably null |
Het |
| Klra2 |
T |
C |
6: 131,219,789 (GRCm39) |
T131A |
probably damaging |
Het |
| Krt14 |
T |
C |
11: 100,094,949 (GRCm39) |
E426G |
possibly damaging |
Het |
| Limd2 |
A |
G |
11: 106,049,568 (GRCm39) |
F107L |
probably damaging |
Het |
| Lipo4 |
A |
T |
19: 33,477,469 (GRCm39) |
N318K |
possibly damaging |
Het |
| Mab21l2 |
T |
G |
3: 86,454,316 (GRCm39) |
D228A |
probably damaging |
Het |
| Moxd2 |
G |
A |
6: 40,861,901 (GRCm39) |
H224Y |
probably damaging |
Het |
| Mpp4 |
T |
C |
1: 59,162,624 (GRCm39) |
Y521C |
possibly damaging |
Het |
| Msto1 |
C |
T |
3: 88,818,297 (GRCm39) |
A317T |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,501,793 (GRCm39) |
S559P |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,576,783 (GRCm39) |
H2094Q |
unknown |
Het |
| Ndufa11 |
C |
A |
17: 57,024,922 (GRCm39) |
T28K |
probably damaging |
Het |
| Or2b4 |
A |
G |
17: 38,116,686 (GRCm39) |
T217A |
probably benign |
Het |
| Or4f4b |
G |
T |
2: 111,314,623 (GRCm39) |
A283S |
probably damaging |
Het |
| Orai2 |
C |
A |
5: 136,179,610 (GRCm39) |
R155L |
probably damaging |
Het |
| Pde4c |
A |
G |
8: 71,202,005 (GRCm39) |
D582G |
possibly damaging |
Het |
| Pde4dip |
T |
C |
3: 97,661,749 (GRCm39) |
E609G |
probably null |
Het |
| Prune2 |
A |
G |
19: 17,097,109 (GRCm39) |
D871G |
possibly damaging |
Het |
| Rbpms2 |
T |
A |
9: 65,538,121 (GRCm39) |
L4Q |
probably damaging |
Het |
| Rhbg |
T |
C |
3: 88,154,765 (GRCm39) |
Y213C |
probably damaging |
Het |
| Rplp0 |
T |
A |
5: 115,700,562 (GRCm39) |
N243K |
possibly damaging |
Het |
| Rtp4 |
A |
T |
16: 23,431,963 (GRCm39) |
H165L |
possibly damaging |
Het |
| Ryr2 |
C |
A |
13: 11,677,115 (GRCm39) |
M3245I |
probably benign |
Het |
| Sh2b2 |
T |
A |
5: 136,260,968 (GRCm39) |
M83L |
possibly damaging |
Het |
| Simc1 |
T |
C |
13: 54,689,347 (GRCm39) |
I284T |
probably damaging |
Het |
| Slc46a1 |
T |
C |
11: 78,359,471 (GRCm39) |
S368P |
possibly damaging |
Het |
| St6galnac1 |
A |
G |
11: 116,659,933 (GRCm39) |
S127P |
probably benign |
Het |
| Tatdn3 |
A |
G |
1: 190,785,073 (GRCm39) |
I192T |
possibly damaging |
Het |
| Tmem25 |
C |
A |
9: 44,707,383 (GRCm39) |
V239F |
possibly damaging |
Het |
| Tprkb |
A |
C |
6: 85,909,922 (GRCm39) |
|
probably benign |
Het |
| Trappc10 |
A |
G |
10: 78,032,168 (GRCm39) |
V1040A |
probably benign |
Het |
| Txnrd1 |
G |
A |
10: 82,719,744 (GRCm39) |
|
probably benign |
Het |
| Uhrf1 |
A |
T |
17: 56,625,089 (GRCm39) |
K544M |
probably damaging |
Het |
| Unc80 |
T |
A |
1: 66,629,386 (GRCm39) |
H1294Q |
possibly damaging |
Het |
| Uspl1 |
T |
A |
5: 149,146,560 (GRCm39) |
I437K |
probably damaging |
Het |
| Vmn1r232 |
A |
T |
17: 21,133,999 (GRCm39) |
N200K |
possibly damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,312,795 (GRCm39) |
I622F |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,730 (GRCm39) |
F398S |
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 |
|
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'- CCTCGCAAATGGTTCCCTAAC -3'
(R):5'- TAGTCTGACAACTGCCATACC -3'
Sequencing Primer
(F):5'- CATACATATAAAGTGAAGGCTAAGGC -3'
(R):5'- AACTGCCATACCTCCTGGAATTTG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation