Incidental Mutation 'R1004:Skp1'
ID 97980
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 039114-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.572) question?
Stock # R1004 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 52122822-52137685 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to C at 52128207 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

DomainStartEndE-ValueType
Skp1 1 112 1.13e-64 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000093121
Predicted Effect probably benign
Transcript: ENSMUST00000109072
SMART Domains Protein: ENSMUSP00000104700
Gene: ENSMUSG00000036309

DomainStartEndE-ValueType
Skp1 1 112 1.13e-64 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116595
SMART Domains Protein: ENSMUSP00000112294
Gene: ENSMUSG00000036309

DomainStartEndE-ValueType
Pfam:Skp1_POZ 1 28 6.8e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143016
Predicted Effect probably benign
Transcript: ENSMUST00000147684
SMART Domains Protein: ENSMUSP00000129711
Gene: ENSMUSG00000036309

DomainStartEndE-ValueType
Pfam:Skp1_POZ 2 47 1.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166537
SMART Domains Protein: ENSMUSP00000131833
Gene: ENSMUSG00000036309

DomainStartEndE-ValueType
Skp1 1 64 1.04e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181262
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.7%
Validation Efficiency 100% (41/41)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,042,780 (GRCm39) I423T possibly damaging Het
Agbl3 A T 6: 34,780,386 (GRCm39) E453V probably damaging Het
Agxt A G 1: 93,063,421 (GRCm39) M108V possibly damaging Het
Akap13 T C 7: 75,337,034 (GRCm39) I831T probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arid1a A G 4: 133,414,586 (GRCm39) M1215T unknown Het
Cd163 G T 6: 124,302,306 (GRCm39) D957Y probably damaging Het
Ces2e A G 8: 105,656,370 (GRCm39) D200G probably damaging Het
Cfap54 T C 10: 92,902,558 (GRCm39) probably benign Het
Col11a1 A G 3: 113,888,671 (GRCm39) probably benign Het
Dlx6 C T 6: 6,863,665 (GRCm39) Q96* probably null Het
Dpp4 T A 2: 62,162,984 (GRCm39) Q754L probably benign Het
Ece1 A G 4: 137,653,550 (GRCm39) T100A probably benign Het
Gabbr2 C T 4: 46,677,544 (GRCm39) V779M possibly damaging Het
Gatm C T 2: 122,440,141 (GRCm39) probably benign Het
Gpc2 A G 5: 138,276,487 (GRCm39) L213P probably damaging Het
Hook1 A C 4: 95,910,524 (GRCm39) N713H probably benign Het
Kdm5b T A 1: 134,516,642 (GRCm39) I178K possibly damaging Het
Mettl9 G A 7: 120,675,460 (GRCm39) V287I probably benign Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Mycbp2 G A 14: 103,378,353 (GRCm39) T3774I probably benign Het
Nup58 C A 14: 60,484,930 (GRCm39) probably benign Het
Nxf1 A T 19: 8,741,681 (GRCm39) T119S probably benign Het
Oaz3 T A 3: 94,342,350 (GRCm39) H102L probably damaging Het
Or8g2b T C 9: 39,751,276 (GRCm39) F182S probably benign Het
Pfpl A T 19: 12,407,789 (GRCm39) Q680L probably benign Het
Poli T A 18: 70,658,509 (GRCm39) Q75L probably benign Het
Ppp2r3d C T 9: 101,075,829 (GRCm39) probably null Het
Prr30 A G 14: 101,436,529 (GRCm39) L11P probably damaging Het
Ptchd4 A T 17: 42,688,493 (GRCm39) Y345F probably benign Het
Ric1 A G 19: 29,579,757 (GRCm39) N1233S probably benign Het
Serpinb9f TA "TTTNA,T" 13: 33,518,225 (GRCm39) probably benign Het
Sh3bgrl2 C T 9: 83,459,684 (GRCm39) probably benign Het
Slc12a9 T C 5: 137,320,786 (GRCm39) K528R probably damaging Het
Slc22a6 A G 19: 8,595,763 (GRCm39) N35S probably damaging Het
Tcstv2c T A 13: 120,616,558 (GRCm39) D132E probably benign Het
Xrcc5 A G 1: 72,422,937 (GRCm39) probably benign Het
Zfp235 T A 7: 23,840,169 (GRCm39) L266Q probably damaging Het
Zfp600 T A 4: 146,133,103 (GRCm39) probably benign Het
Other mutations in Skp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0689:Skp1 UTSW 11 52,134,592 (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'- TGACTATCAAGACCATGCTGGAAGGTAA -3'
(R):5'- CCTGCCTCAAAAGGGAGTGGAAG -3'

Sequencing Primer
(F):5'- cacacatttaatcccagcttttatc -3'
(R):5'- ggcatccatactgagcaatttac -3'
Posted On 2014-01-05