Incidental Mutation 'R2250:Skp1'
ID 240833
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 040250-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.572) question?
Stock # R2250 (G1)
Quality Score 89
Status Not validated
Chromosome 11
Chromosomal Location 52122822-52137685 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52134446 bp (GRCm39)
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]
AlphaFold Q9WTX5
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

DomainStartEndE-ValueType
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

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 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 0.7130 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr A G 11: 76,342,765 (GRCm39) C532R probably damaging Het
Edem2 A C 2: 155,552,893 (GRCm39) probably null Het
Hhatl A G 9: 121,617,237 (GRCm39) V332A possibly damaging Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Irf2bp1 G T 7: 18,739,724 (GRCm39) A455S probably benign Het
Lyg2 G A 1: 37,954,816 (GRCm39) L10F probably benign Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Mindy4 G A 6: 55,277,934 (GRCm39) V593I probably damaging Het
Nectin3 A T 16: 46,275,099 (GRCm39) D319E probably benign Het
Or52e2 C A 7: 102,804,157 (GRCm39) G266C probably damaging Het
Or6b9 T A 7: 106,555,580 (GRCm39) M188L probably benign Het
Plcb4 G A 2: 135,813,781 (GRCm39) probably null Het
Prkd3 T C 17: 79,275,507 (GRCm39) T446A probably benign Het
Scn11a T A 9: 119,587,668 (GRCm39) T1359S probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Spta1 A G 1: 174,071,680 (GRCm39) E2220G probably damaging Het
Strn4 A G 7: 16,560,391 (GRCm39) Y181C probably damaging Het
Vmn1r119 A T 7: 20,746,184 (GRCm39) L66H probably damaging Het
Other mutations in Skp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0689:Skp1 UTSW 11 52,134,592 (GRCm39) intron probably benign
R1004:Skp1 UTSW 11 52,128,207 (GRCm39) intron probably benign
R1710:Skp1 UTSW 11 52,133,442 (GRCm39) missense probably benign 0.00
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'- GACTGTTAACCAGCAAGCAC -3'
(R):5'- AGGCTCTGCAACAGAACTAC -3'

Sequencing Primer
(F):5'- TGACTGAGCTATCTTACCAGCGAG -3'
(R):5'- GGCTCTGCAACAGAACTACTTTATAC -3'
Posted On 2014-10-15