Mutagenetix > Incidental Mutation

Incidental Mutation 'R1660:Skp2'

186696

Institutional Source

Beutler Lab

Gene Symbol

Skp2

Ensembl Gene

ENSMUSG00000054115

Gene Name

S-phase kinase-associated protein 2

Synonyms

FBXL1

MMRRC Submission

039696-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1660 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9112073-9155512 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 9125201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 126 (V126G)

Ref Sequence

ENSEMBL: ENSMUSP00000139997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096482] [ENSMUST00000110585] [ENSMUST00000190131]

AlphaFold

Q9Z0Z3

Predicted Effect

probably benign
Transcript: ENSMUST00000096482
AA Change: V161G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000094225
Gene: ENSMUSG00000054115
AA Change: V161G

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: V161G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000106215
Gene: ENSMUSG00000054115
AA Change: V161G

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: V126G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139997
Gene: ENSMUSG00000054115
AA Change: V126G

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	A	19: 31,870,507 (GRCm39)	S3*	probably null	Het
Adgrv1	C	T	13: 81,624,750 (GRCm39)	V3740I	probably benign	Het
Aida	T	C	1: 183,079,127 (GRCm39)	F22S	probably damaging	Het
Ankrd65	A	T	4: 155,876,528 (GRCm39)	D220V	probably damaging	Het
Antxr2	A	T	5: 98,123,209 (GRCm39)	C279*	probably null	Het
Ap3b1	T	C	13: 94,545,320 (GRCm39)	V191A	probably damaging	Het
Arhgef28	T	C	13: 98,117,884 (GRCm39)	K595E	probably benign	Het
Atp12a	A	G	14: 56,608,305 (GRCm39)	T98A	probably benign	Het
Cdcp1	A	T	9: 123,014,427 (GRCm39)	S116T	probably benign	Het
Chrm1	T	C	19: 8,656,582 (GRCm39)	F429S	possibly damaging	Het
Ckap5	C	A	2: 91,393,303 (GRCm39)	Q395K	possibly damaging	Het
Cntn4	T	A	6: 106,656,258 (GRCm39)	I853K	probably benign	Het
Cyp2g1	G	A	7: 26,509,107 (GRCm39)		probably null	Het
Dhx57	C	T	17: 80,553,157 (GRCm39)	V1257I	possibly damaging	Het
Disp1	A	T	1: 182,869,306 (GRCm39)	V1038D	probably damaging	Het
Dmxl2	A	T	9: 54,358,314 (GRCm39)	S462T	possibly damaging	Het
Dnaaf10	A	T	11: 17,177,183 (GRCm39)	E180D	probably benign	Het
Exoc3l	A	G	8: 106,019,692 (GRCm39)		probably null	Het
Fam210a	T	C	18: 68,409,167 (GRCm39)	T48A	probably benign	Het
Fbxw5	G	A	2: 25,393,286 (GRCm39)		probably null	Het
Fkbp9	T	C	6: 56,850,434 (GRCm39)	C437R	probably damaging	Het
Gpc5	A	G	14: 115,636,691 (GRCm39)	K458R	probably benign	Het
Grik2	C	A	10: 49,120,439 (GRCm39)	G56*	probably null	Het
Igsf10	T	C	3: 59,238,706 (GRCm39)	T492A	probably damaging	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Lrrc51	T	C	7: 101,562,645 (GRCm39)	Y145C	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mapkbp1	A	T	2: 119,849,029 (GRCm39)	I682F	possibly damaging	Het
Mttp	A	T	3: 137,808,954 (GRCm39)	V718D	probably damaging	Het
Myt1l	T	A	12: 29,945,272 (GRCm39)	D1012E	unknown	Het
Nbn	G	A	4: 15,971,771 (GRCm39)	G301D	probably benign	Het
Ncstn	T	A	1: 171,894,339 (GRCm39)	S677C	possibly damaging	Het
Nod1	C	A	6: 54,921,218 (GRCm39)		probably null	Het
Nos1ap	A	G	1: 170,342,206 (GRCm39)	V52A	possibly damaging	Het
Or51f2	T	G	7: 102,526,863 (GRCm39)	Y179D	probably damaging	Het
Or52z14	T	A	7: 103,252,882 (GRCm39)	L7*	probably null	Het
Or5b98	T	A	19: 12,931,055 (GRCm39)	I34N	probably damaging	Het
Or5h23	T	A	16: 58,906,706 (GRCm39)	I47F	probably benign	Het
Phf13	T	C	4: 152,076,962 (GRCm39)	I77V	probably benign	Het
Pias2	A	G	18: 77,207,825 (GRCm39)	K230E	probably damaging	Het
Poli	A	G	18: 70,642,535 (GRCm39)	L469P	probably damaging	Het
Prag1	A	T	8: 36,607,177 (GRCm39)	T973S	possibly damaging	Het
Prpf40b	C	A	15: 99,203,442 (GRCm39)	H101Q	probably damaging	Het
Prss50	T	C	9: 110,691,557 (GRCm39)	V287A	possibly damaging	Het
Rbm25	C	T	12: 83,714,924 (GRCm39)		probably benign	Het
Rcor2	T	C	19: 7,246,337 (GRCm39)	V4A	probably damaging	Het
Rnf180	T	C	13: 105,407,499 (GRCm39)	T17A	probably benign	Het
Robo3	A	T	9: 37,340,440 (GRCm39)	V179E	probably damaging	Het
Sacs	T	A	14: 61,446,458 (GRCm39)	S2835T	probably damaging	Het
Serpinb3c	T	A	1: 107,199,432 (GRCm39)	H363L	probably damaging	Het
Setd1a	T	C	7: 127,395,841 (GRCm39)		probably benign	Het
Snph	G	A	2: 151,436,398 (GRCm39)	Q108*	probably null	Het
Snrpa1	T	A	7: 65,719,246 (GRCm39)	V144E	probably damaging	Het
Tifab	T	C	13: 56,324,248 (GRCm39)	E65G	probably damaging	Het
Tmem201	A	T	4: 149,804,032 (GRCm39)	Y468N	probably damaging	Het
Tpcn1	T	C	5: 120,687,580 (GRCm39)	N388S	possibly damaging	Het
Tssk4	A	G	14: 55,888,029 (GRCm39)	Q75R	probably null	Het
Tuba4a	T	C	1: 75,192,547 (GRCm39)	N356D	probably benign	Het
Ugt2b5	T	A	5: 87,287,477 (GRCm39)	D230V	probably benign	Het
Ush2a	T	C	1: 188,648,261 (GRCm39)	V4622A	probably benign	Het
Vmn2r11	T	G	5: 109,201,724 (GRCm39)	Y260S	possibly damaging	Het
Vmn2r89	C	A	14: 51,693,693 (GRCm39)	H348N	possibly damaging	Het
Vmn2r96	A	T	17: 18,817,988 (GRCm39)	M714L	probably benign	Het
Zbtb18	T	C	1: 177,275,329 (GRCm39)	S221P	probably benign	Het
Zfp418	A	G	7: 7,184,789 (GRCm39)	T251A	probably benign	Het
Zmynd15	A	G	11: 70,354,328 (GRCm39)	Y267C	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
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

Predicted Primers

PCR Primer
(F):5'- TGTTCTCCCGAGGAATCAGACAGC -3'
(R):5'- GTGACTTTGAGGGTCCCCAGAATTG -3'

Sequencing Primer
(F):5'- CCAGGTTGCAAATCTGTCG -3'
(R):5'- CCCCAGAATTGGCTTTGGC -3'

Posted On

2014-05-09