Mutagenetix > Incidental Mutations

Incidental Mutation 'R4592:Skp1a'

342913

Institutional Source

Beutler Lab

Gene Symbol

Skp1a

Ensembl Gene

ENSMUSG00000036309

Gene Name

S-phase kinase-associated protein 1A

Synonyms

2610043E24Rik, Tceb1l, p19Skp1, 2610206H23Rik

MMRRC Submission

041808-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.538) question?

Stock #

R4592 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52231995-52246858 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52243619 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 59 (I59T)

Ref Sequence

ENSEMBL: ENSMUSP00000104700 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037324] [ENSMUST00000109072] [ENSMUST00000116595] [ENSMUST00000147684] [ENSMUST00000166537]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037324
AA Change: I59T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038744
Gene: ENSMUSG00000036309
AA Change: I59T

Domain	Start	End	E-Value	Type
Skp1	1	112	1.13e-64	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109072
AA Change: I59T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104700
Gene: ENSMUSG00000036309
AA Change: I59T

Domain	Start	End	E-Value	Type
Skp1	1	112	1.13e-64	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116595

SMART Domains

Protein: ENSMUSP00000112294
Gene: ENSMUSG00000036309

Domain	Start	End	E-Value	Type
Pfam:Skp1_POZ	1	28	6.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147684

SMART Domains

Protein: ENSMUSP00000129711
Gene: ENSMUSG00000036309

Domain	Start	End	E-Value	Type
Pfam:Skp1_POZ	2	47	1.6e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166537

SMART Domains

Protein: ENSMUSP00000131833
Gene: ENSMUSG00000036309

Domain	Start	End	E-Value	Type
Skp1	1	64	1.04e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181262

Meta Mutation Damage Score

0.7130

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), and many specific SCF substrates have been identified including regulators of cell cycle progression and development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	G	11: 97,771,615	S144P	probably damaging	Het
4933430I17Rik	T	A	4: 62,538,927	V161E	possibly damaging	Het
Arhgap40	T	C	2: 158,546,709	V521A	possibly damaging	Het
Atrn	T	C	2: 130,999,130		probably benign	Het
Casp12	T	C	9: 5,352,923		probably benign	Het
Ccdc189	C	T	7: 127,585,491	R172H	probably benign	Het
Cenpf	G	A	1: 189,679,033	T318M	probably damaging	Het
Clcn2	T	C	16: 20,709,142	K525E	probably damaging	Het
Cntln	A	G	4: 84,971,182	T301A	probably benign	Het
Crat	T	C	2: 30,415,366		probably benign	Het
Cul5	A	G	9: 53,633,727		probably benign	Het
Cxcl14	A	T	13: 56,295,895	I34N	probably damaging	Het
Cyp2b19	A	G	7: 26,771,394	I487V	probably benign	Het
Cyp4a10	T	A	4: 115,529,493	F446I	probably damaging	Het
D430041D05Rik	T	A	2: 104,233,479	M659L	possibly damaging	Het
Dclk3	T	C	9: 111,467,895	F169S	probably damaging	Het
Ddx52	T	C	11: 83,957,480	I532T	probably damaging	Het
Dnm1	T	C	2: 32,336,011	D352G	probably damaging	Het
Eif4g2	T	C	7: 111,078,302	E174G	probably damaging	Het
Enpp6	G	T	8: 47,093,032	V386L	probably damaging	Het
Eps15l1	T	C	8: 72,341,394	D904G	probably damaging	Het
Esrrb	A	G	12: 86,518,830	Y356C	probably damaging	Het
Flt3	A	T	5: 147,354,699	S619T	possibly damaging	Het
Fndc7	A	T	3: 108,858,902	C716S	probably damaging	Het
Gm10125	T	C	18: 5,525,375		noncoding transcript	Het
Gm26996	T	A	6: 130,579,485		noncoding transcript	Het
Grik2	A	T	10: 49,422,615	F50I	possibly damaging	Het
Guf1	T	C	5: 69,566,443	V367A	possibly damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Ifnar2	T	C	16: 91,391,796	V55A	probably benign	Het
Impg1	T	A	9: 80,440,854	I33F	probably benign	Het
Ltbp4	A	C	7: 27,325,183	V674G	probably damaging	Het
Mroh2b	T	A	15: 4,918,290	L529H	probably damaging	Het
Negr1	T	C	3: 157,208,386		probably benign	Het
Neurog3	A	G	10: 62,133,820	T25A	probably damaging	Het
Olfr1241	T	A	2: 89,482,756	K126N	probably damaging	Het
Olfr1420	T	C	19: 11,896,762	V247A	probably benign	Het
Olfr181	T	C	16: 58,926,092	T160A	probably benign	Het
Olfr555	A	C	7: 102,659,478	Y219S	probably damaging	Het
Pax8	T	A	2: 24,443,189		probably benign	Het
Pcsk6	A	C	7: 65,931,732	I254L	possibly damaging	Het
Pde3a	A	G	6: 141,459,216	K389R	probably benign	Het
Rab3gap1	C	A	1: 127,925,259		probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rptor	A	G	11: 119,798,840	D321G	probably null	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Sdccag3	C	A	2: 26,388,897		probably benign	Het
Slc23a3	T	G	1: 75,128,556	N456T	probably damaging	Het
Slc4a7	G	A	14: 14,778,850	G920S	probably damaging	Het
Smarcd3	T	C	5: 24,592,804	I467V	probably benign	Het
Spata31d1c	C	T	13: 65,036,060	A472V	probably damaging	Het
Srsf6	T	C	2: 162,931,723	I18T	probably damaging	Het
Stom	C	T	2: 35,323,746	G80D	probably damaging	Het
Svep1	A	T	4: 58,084,028	Y1915N	possibly damaging	Het
Tmf1	C	T	6: 97,173,400	V449I	probably benign	Het
Triobp	C	T	15: 78,967,095	A483V	probably benign	Het
Vdac1	G	A	11: 52,374,972		probably null	Het
Vmn2r75	T	G	7: 86,166,286	E123D	probably benign	Het
Vmn2r79	T	A	7: 87,004,111	V528D	possibly damaging	Het
Zdbf2	T	G	1: 63,306,591	N1376K	possibly damaging	Het

Other mutations in Skp1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0689:Skp1a	UTSW	11	52243765	intron	probably benign
R1004:Skp1a	UTSW	11	52237380	intron	probably benign
R1710:Skp1a	UTSW	11	52242615	missense	probably benign	0.00
R2250:Skp1a	UTSW	11	52243619	missense	possibly damaging	0.95
R4468:Skp1a	UTSW	11	52245078	missense	probably benign	0.04
R4469:Skp1a	UTSW	11	52245078	missense	probably benign	0.04
R4976:Skp1a	UTSW	11	52243631	missense	probably benign	0.01
R5576:Skp1a	UTSW	11	52242588	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- GACTGTTAACCAGCAAGCAC -3'
(R):5'- TAGGTAAAGGCTCTGCAACAGAAC -3'

Sequencing Primer
(F):5'- TGACTGAGCTATCTTACCAGCGAG -3'
(R):5'- GGCTCTGCAACAGAACTACTTTATAC -3'

Posted On

2015-09-24