Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00841:Skp2'

14034

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Skp2

Ensembl Gene

ENSMUSG00000054115

Gene Name

S-phase kinase-associated protein 2

Synonyms

FBXL1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00841

Quality Score

Status

Chromosome

Chromosomal Location

9112073-9155512 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 9139574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 40 (S40R)

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

probably benign
Transcript: ENSMUST00000096482
AA Change: S75R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000094225
Gene: ENSMUSG00000054115
AA Change: S75R

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: S75R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106215
Gene: ENSMUSG00000054115
AA Change: S75R

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: S40R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139997
Gene: ENSMUSG00000054115
AA Change: S40R

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

Coding Region Coverage

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankdd1b	T	C	13: 96,554,338 (GRCm39)		probably benign	Het
Arl2	C	A	19: 6,185,999 (GRCm39)		probably benign	Het
Atp8b4	A	G	2: 126,225,689 (GRCm39)	S514P	probably damaging	Het
Ces1a	G	T	8: 93,766,164 (GRCm39)	S150*	probably null	Het
Ces1g	T	A	8: 94,029,615 (GRCm39)	D539V	possibly damaging	Het
Col24a1	A	G	3: 145,068,064 (GRCm39)	D752G	probably damaging	Het
Ctsd	A	C	7: 141,936,418 (GRCm39)	S128A	probably damaging	Het
Dbt	G	A	3: 116,339,763 (GRCm39)	G384S	probably benign	Het
Dscam	G	A	16: 96,621,077 (GRCm39)	L544F	probably damaging	Het
Fry	T	A	5: 150,346,189 (GRCm39)	I1566N	probably benign	Het
Fut8	T	A	12: 77,412,095 (GRCm39)	H148Q	probably benign	Het
Ighv1-64	A	T	12: 115,471,596 (GRCm39)	M1K	probably null	Het
Ivd	T	C	2: 118,707,383 (GRCm39)	V299A	probably benign	Het
Kcnab3	A	G	11: 69,222,129 (GRCm39)	I292V	probably benign	Het
Mfhas1	T	A	8: 36,058,040 (GRCm39)	N838K	probably damaging	Het
Prom1	A	T	5: 44,220,458 (GRCm39)		probably benign	Het
Ros1	T	G	10: 52,020,969 (GRCm39)	T648P	possibly damaging	Het
Scel	A	T	14: 103,767,431 (GRCm39)	Q30L	probably benign	Het
Tm9sf1	T	A	14: 55,880,184 (GRCm39)	K71M	probably damaging	Het
Vegfb	A	G	19: 6,963,846 (GRCm39)	W38R	probably damaging	Het
Xpo1	T	G	11: 23,235,094 (GRCm39)	F588V	probably damaging	Het
Zfp990	C	A	4: 145,264,438 (GRCm39)	L479M	probably damaging	Het

Other mutations in Skp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06