Mutagenetix > Incidental Mutation

Incidental Mutation 'R0689:Skp1'

61289

Institutional Source

Beutler Lab

Gene Symbol

Skp1

Ensembl Gene

ENSMUSG00000036309

Gene Name

S-phase kinase-associated protein 1

Synonyms

2610206H23Rik, Skp1a, p19Skp1, 2610043E24Rik, Tceb1l

MMRRC Submission

038874-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.632) question?

Stock #

R0689 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

52122822-52137685 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 52134592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131833 (fasta)

Gene Model

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

AlphaFold

Q9WTX5

Predicted Effect

probably benign
Transcript: ENSMUST00000037324

SMART Domains

Protein: ENSMUSP00000038744
Gene: ENSMUSG00000036309

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109072

SMART Domains

Protein: ENSMUSP00000104700
Gene: ENSMUSG00000036309

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.4%
20x: 91.1%

Validation Efficiency

99% (80/81)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	C	A	7: 28,596,474 (GRCm39)	G674W	probably damaging	Het
Adcy9	A	G	16: 4,130,668 (GRCm39)		probably benign	Het
Adgrv1	C	T	13: 81,623,224 (GRCm39)	V3800I	possibly damaging	Het
Agl	A	G	3: 116,587,277 (GRCm39)	Y93H	probably damaging	Het
Aldh1a3	T	A	7: 66,051,753 (GRCm39)	D400V	probably benign	Het
Bpifc	A	G	10: 85,796,411 (GRCm39)		probably benign	Het
Cachd1	G	T	4: 100,832,073 (GRCm39)	R745L	probably damaging	Het
Cadm3	T	A	1: 173,172,019 (GRCm39)	T185S	possibly damaging	Het
Cep85l	G	T	10: 53,224,943 (GRCm39)	D215E	probably damaging	Het
Ces1g	A	G	8: 94,055,035 (GRCm39)	S221P	probably damaging	Het
Cfap206	C	T	4: 34,722,668 (GRCm39)	V138M	probably benign	Het
Csmd3	A	T	15: 47,619,421 (GRCm39)	F1714I	probably benign	Het
Cyp4f18	A	G	8: 72,749,812 (GRCm39)	L279P	probably benign	Het
Dnah7a	G	A	1: 53,659,840 (GRCm39)	Q723*	probably null	Het
Dnaja2	A	G	8: 86,273,347 (GRCm39)		probably benign	Het
Dnajc6	T	C	4: 101,468,450 (GRCm39)	V162A	possibly damaging	Het
Dok4	T	C	8: 95,597,547 (GRCm39)	T3A	probably benign	Het
Efcab7	T	C	4: 99,761,981 (GRCm39)	W424R	probably damaging	Het
Fah	A	T	7: 84,242,392 (GRCm39)		probably null	Het
Fam120a	T	C	13: 49,121,114 (GRCm39)	D64G	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gas8	T	G	8: 124,250,845 (GRCm39)	L106R	probably damaging	Het
Gykl1	T	G	18: 52,827,123 (GRCm39)	N110K	possibly damaging	Het
Hsd3b3	G	T	3: 98,649,295 (GRCm39)	L343I	possibly damaging	Het
Itch	T	A	2: 155,024,098 (GRCm39)	S234T	possibly damaging	Het
Itgbl1	A	T	14: 124,065,259 (GRCm39)	I61F	possibly damaging	Het
Klf6	T	A	13: 5,915,115 (GRCm39)	S185T	probably damaging	Het
Klk1b1	A	C	7: 43,620,143 (GRCm39)	K202T	probably benign	Het
Liph	T	C	16: 21,786,818 (GRCm39)	Y268C	probably damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myo9b	G	A	8: 71,783,400 (GRCm39)	D574N	probably damaging	Het
Nfyb	G	A	10: 82,590,836 (GRCm39)	A65V	possibly damaging	Het
Nipbl	A	G	15: 8,322,562 (GRCm39)		probably null	Het
Olfm3	T	A	3: 114,916,194 (GRCm39)	N355K	probably benign	Het
Or4k15c	A	T	14: 50,321,689 (GRCm39)	F150I	probably benign	Het
Pcdhb21	A	G	18: 37,648,370 (GRCm39)	T500A	probably benign	Het
Pclo	A	G	5: 14,764,033 (GRCm39)	I4169V	unknown	Het
Pde4d	T	C	13: 109,877,078 (GRCm39)	S144P	possibly damaging	Het
Pgghg	T	C	7: 140,523,191 (GRCm39)	Y157H	probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pla2g12a	T	C	3: 129,674,947 (GRCm39)		probably null	Het
Ppp1r14d	T	C	2: 119,060,093 (GRCm39)	D63G	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Sgip1	A	T	4: 102,823,449 (GRCm39)	D690V	probably damaging	Het
Slc25a12	T	C	2: 71,141,837 (GRCm39)	Y272C	possibly damaging	Het
Slc37a2	A	G	9: 37,146,846 (GRCm39)		probably benign	Het
Snx6	A	T	12: 54,810,441 (GRCm39)	S112T	probably benign	Het
Sox6	A	G	7: 115,085,786 (GRCm39)	V685A	probably damaging	Het
Taf2	A	T	15: 54,926,461 (GRCm39)	V163E	possibly damaging	Het
Tg	A	T	15: 66,711,253 (GRCm39)		probably benign	Het
Tmem30c	A	G	16: 57,090,536 (GRCm39)	Y224H	probably damaging	Het
Tmem45b	T	C	9: 31,339,879 (GRCm39)	N173D	probably benign	Het
Traf5	T	C	1: 191,729,837 (GRCm39)	T405A	probably benign	Het
Trerf1	C	T	17: 47,630,300 (GRCm39)		noncoding transcript	Het
Triobp	A	T	15: 78,844,188 (GRCm39)	K135*	probably null	Het
Ttll9	T	A	2: 152,825,047 (GRCm39)	D75E	probably benign	Het
Vmn1r63	T	C	7: 5,806,609 (GRCm39)	I8V	probably benign	Het
Vmn2r77	A	T	7: 86,460,872 (GRCm39)	I733F	probably damaging	Het
Vmn2r98	T	C	17: 19,300,782 (GRCm39)	S595P	possibly damaging	Het
Zcchc2	C	T	1: 105,958,234 (GRCm39)	Q504*	probably null	Het
Zfp2	T	C	11: 50,791,734 (GRCm39)	D103G	probably benign	Het
Zfp59	A	G	7: 27,553,142 (GRCm39)	K198R	probably benign	Het
Zfp64	C	A	2: 168,777,121 (GRCm39)		probably benign	Het

Other mutations in Skp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1004:Skp1	UTSW	11	52,128,207 (GRCm39)	intron	probably benign
R1710:Skp1	UTSW	11	52,133,442 (GRCm39)	missense	probably benign	0.00
R2250:Skp1	UTSW	11	52,134,446 (GRCm39)	missense	possibly damaging	0.95
R4468:Skp1	UTSW	11	52,135,905 (GRCm39)	missense	probably benign	0.04
R4469:Skp1	UTSW	11	52,135,905 (GRCm39)	missense	probably benign	0.04
R4592:Skp1	UTSW	11	52,134,446 (GRCm39)	missense	possibly damaging	0.95
R4976:Skp1	UTSW	11	52,134,458 (GRCm39)	missense	probably benign	0.01
R5576:Skp1	UTSW	11	52,133,415 (GRCm39)	missense	possibly damaging	0.76
R8746:Skp1	UTSW	11	52,136,843 (GRCm39)	missense	probably damaging	1.00
R9653:Skp1	UTSW	11	52,134,514 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- CCCCAGCATTGAACTGAAAGTCTTGTC -3'
(R):5'- TGCCTGCACAACTGTGTGCTTC -3'

Sequencing Primer
(F):5'- GTCTTGTCATAGAATGCCAGAAG -3'
(R):5'- ttgttcttcacgaatcaatccc -3'

Posted On

2013-07-30