Incidental Mutation 'R4468:Skp1'
ID 329283
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 041725-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.632) question?
Stock # R4468 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 52122822-52137685 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 52135905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 138 (T138I)
Ref Sequence ENSEMBL: ENSMUSP00000104700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037324] [ENSMUST00000109072] [ENSMUST00000116595] [ENSMUST00000147684] [ENSMUST00000166537]
AlphaFold Q9WTX5
Predicted Effect probably benign
Transcript: ENSMUST00000037324
AA Change: T138I

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000038744
Gene: ENSMUSG00000036309
AA Change: T138I

DomainStartEndE-ValueType
Skp1 1 112 1.13e-64 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109072
AA Change: T138I

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000104700
Gene: ENSMUSG00000036309
AA Change: T138I

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
AA Change: T90I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131833
Gene: ENSMUSG00000036309
AA Change: T90I

DomainStartEndE-ValueType
Skp1 1 64 1.04e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181262
Meta Mutation Damage Score 0.1254 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (39/39)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat A T 11: 116,487,781 (GRCm39) D160V possibly damaging Het
Abca2 A G 2: 25,334,914 (GRCm39) Y1962C probably damaging Het
Adgrv1 T A 13: 81,522,375 (GRCm39) M5921L probably benign Het
Bmp2 T C 2: 133,396,374 (GRCm39) V10A probably benign Het
Ccdc33 A G 9: 57,937,235 (GRCm39) S655P possibly damaging Het
Ccdc33 G T 9: 57,977,155 (GRCm39) T282K possibly damaging Het
Chd1 T C 17: 15,980,657 (GRCm39) I1308T probably damaging Het
Clec4f A G 6: 83,629,415 (GRCm39) I381T probably damaging Het
Ifit1bl2 G A 19: 34,596,468 (GRCm39) Q383* probably null Het
Igkv6-15 A G 6: 70,383,957 (GRCm39) V7A probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lancl2 T A 6: 57,690,019 (GRCm39) L75H probably damaging Het
Mtmr11 T C 3: 96,075,207 (GRCm39) probably benign Het
Or12d14-ps1 A G 17: 37,673,528 (GRCm39) I170M possibly damaging Het
Or13c7 G A 4: 43,854,737 (GRCm39) V143M probably benign Het
Or7g29 C T 9: 19,286,944 (GRCm39) V78I probably benign Het
Pcdha5 T C 18: 37,095,233 (GRCm39) S581P probably benign Het
Phf10 T C 17: 15,173,037 (GRCm39) probably null Het
Ppp2r3c C T 12: 55,344,668 (GRCm39) W100* probably null Het
Prxl2b T G 4: 154,981,507 (GRCm39) K190T probably benign Het
Pwwp3a C T 10: 80,076,570 (GRCm39) probably benign Het
Rad9a G A 19: 4,250,293 (GRCm39) H143Y probably benign Het
Riox2 T A 16: 59,296,357 (GRCm39) probably benign Het
Ros1 T A 10: 51,994,452 (GRCm39) Y1276F probably damaging Het
Rps12-ps24 A G 8: 36,493,268 (GRCm39) noncoding transcript Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Scn11a G A 9: 119,584,053 (GRCm39) L1521F probably damaging Het
Shoc2 A G 19: 54,014,845 (GRCm39) Y346C probably damaging Het
Snx29 T A 16: 11,238,565 (GRCm39) probably null Het
Sos1 A G 17: 80,761,240 (GRCm39) I152T probably damaging Het
Spag17 A T 3: 99,992,682 (GRCm39) D1726V probably damaging Het
Tns4 A T 11: 98,961,241 (GRCm39) C646S probably benign Het
Txndc11 T C 16: 10,893,087 (GRCm39) H881R probably benign Het
Wls C A 3: 159,578,564 (GRCm39) A42E 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
R2250:Skp1 UTSW 11 52,134,446 (GRCm39) missense possibly damaging 0.95
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'- AGGGCAGAGAATTTCATAAGAGTTC -3'
(R):5'- ATCCAGAGACAGATGCACATTATG -3'

Sequencing Primer
(F):5'- AAACGGGGTATCATTTTAAGCTC -3'
(R):5'- AAGACAGGTTTCTCTATGTAGCCCTG -3'
Posted On 2015-07-21