Incidental Mutation 'IGL02483:Skic8'
ID 295297
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Skic8
Ensembl Gene ENSMUSG00000061559
Gene Name SKI8 subunit of superkiller complex
Synonyms Wdr61, 2700038L12Rik, 2810418I05Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # IGL02483
Quality Score
Status
Chromosome 9
Chromosomal Location 54624437-54641833 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54635545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 19 (I19V)
Ref Sequence ENSEMBL: ENSMUSP00000112811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051822] [ENSMUST00000118771] [ENSMUST00000121204] [ENSMUST00000127451] [ENSMUST00000130368]
AlphaFold Q9ERF3
Predicted Effect probably damaging
Transcript: ENSMUST00000051822
AA Change: I19V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056359
Gene: ENSMUSG00000061559
AA Change: I19V

DomainStartEndE-ValueType
WD40 2 48 1.27e-1 SMART
WD40 53 92 7.62e-5 SMART
WD40 95 134 3.99e-1 SMART
WD40 137 176 7.73e-6 SMART
WD40 179 218 3.21e-12 SMART
WD40 221 260 8.81e-10 SMART
WD40 263 302 1.49e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118771
AA Change: I19V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112811
Gene: ENSMUSG00000061559
AA Change: I19V

DomainStartEndE-ValueType
WD40 2 48 1.27e-1 SMART
WD40 53 92 7.62e-5 SMART
WD40 95 134 3.99e-1 SMART
WD40 137 176 7.73e-6 SMART
WD40 179 218 3.21e-12 SMART
WD40 221 260 8.81e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121204
AA Change: I19V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113560
Gene: ENSMUSG00000061559
AA Change: I19V

DomainStartEndE-ValueType
WD40 2 48 1.27e-1 SMART
WD40 53 92 7.62e-5 SMART
WD40 95 134 3.99e-1 SMART
WD40 137 176 7.73e-6 SMART
WD40 179 218 3.21e-12 SMART
WD40 221 260 8.81e-10 SMART
WD40 263 302 1.49e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127451
SMART Domains Protein: ENSMUSP00000119362
Gene: ENSMUSG00000061559

DomainStartEndE-ValueType
WD40 5 36 5.3e1 SMART
WD40 39 78 7.73e-6 SMART
Pfam:WD40 82 107 2.8e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130368
SMART Domains Protein: ENSMUSP00000123077
Gene: ENSMUSG00000061559

DomainStartEndE-ValueType
WD40 5 36 5.3e1 SMART
WD40 39 78 7.73e-6 SMART
WD40 81 120 3.21e-12 SMART
WD40 123 162 8.81e-10 SMART
WD40 165 204 1.49e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148494
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T G 8: 84,451,882 (GRCm39) I512L probably damaging Het
Ahnak C A 19: 8,980,672 (GRCm39) T652N probably benign Het
Akr1b8 G A 6: 34,340,729 (GRCm39) A209T probably damaging Het
Arnt2 T A 7: 83,900,605 (GRCm39) H659L probably damaging Het
Cad A G 5: 31,218,170 (GRCm39) probably null Het
Car6 T A 4: 150,280,586 (GRCm39) N86I probably damaging Het
Cfap57 T A 4: 118,438,302 (GRCm39) E863V probably damaging Het
Cyp2c39 T A 19: 39,525,231 (GRCm39) I178N probably damaging Het
Cysltr1 C A X: 105,621,728 (GRCm39) V253L probably damaging Het
Dgcr6 G A 16: 17,883,038 (GRCm39) A6T possibly damaging Het
Dis3l T C 9: 64,226,362 (GRCm39) probably null Het
Erc2 T A 14: 27,375,028 (GRCm39) L82Q probably damaging Het
Ercc6l T C X: 101,188,275 (GRCm39) T745A probably benign Het
Fmo4 A G 1: 162,635,990 (GRCm39) V54A possibly damaging Het
Foxd3 C T 4: 99,545,265 (GRCm39) S135F probably damaging Het
Fut7 T A 2: 25,313,888 (GRCm39) F21Y possibly damaging Het
Gata4 T C 14: 63,437,910 (GRCm39) T414A probably benign Het
Gm4950 A T 18: 51,998,406 (GRCm39) M183K probably damaging Het
Gmps A G 3: 63,921,773 (GRCm39) D592G probably damaging Het
Hpd A T 5: 123,320,641 (GRCm39) probably null Het
Imp4 T C 1: 34,483,356 (GRCm39) probably null Het
Itgbl1 A T 14: 124,065,155 (GRCm39) probably benign Het
Kcnt2 T C 1: 140,282,299 (GRCm39) probably benign Het
Kdr C T 5: 76,096,954 (GRCm39) probably null Het
Lca5 A T 9: 83,305,170 (GRCm39) I212N probably damaging Het
Lgr6 T C 1: 134,929,429 (GRCm39) probably benign Het
Lrrc28 T C 7: 67,267,731 (GRCm39) probably benign Het
Madd T G 2: 91,008,381 (GRCm39) T174P probably damaging Het
Map3k8 A G 18: 4,349,318 (GRCm39) probably benign Het
Mcm3 A G 1: 20,873,796 (GRCm39) S775P possibly damaging Het
Myh10 G A 11: 68,692,994 (GRCm39) A1393T probably benign Het
Nbas C T 12: 13,374,295 (GRCm39) A541V probably damaging Het
Nbeal2 G A 9: 110,455,063 (GRCm39) Q2578* probably null Het
Nlrp4f T A 13: 65,342,548 (GRCm39) T366S probably benign Het
Oma1 C T 4: 103,182,309 (GRCm39) R271* probably null Het
Or10ak12 C T 4: 118,666,696 (GRCm39) V122M probably benign Het
Or2g25 A G 17: 37,970,363 (GRCm39) L287P probably damaging Het
Or4c111 G T 2: 88,843,547 (GRCm39) T287N probably damaging Het
Plekhh2 T C 17: 84,903,688 (GRCm39) F1058S possibly damaging Het
Psen2 T A 1: 180,062,626 (GRCm39) M239L probably damaging Het
Psme3ip1 A G 8: 95,315,394 (GRCm39) probably benign Het
Rad50 A G 11: 53,570,876 (GRCm39) I794T probably benign Het
Rgs12 A G 5: 35,187,861 (GRCm39) E506G probably damaging Het
Rnpepl1 C T 1: 92,843,629 (GRCm39) P250S probably damaging Het
Sfr1 G A 19: 47,721,227 (GRCm39) probably benign Het
Tmem184a T C 5: 139,798,832 (GRCm39) E39G probably benign Het
Trim66 C T 7: 109,076,837 (GRCm39) probably benign Het
Ugt2b35 A G 5: 87,149,004 (GRCm39) Y85C possibly damaging Het
Uts2r G T 11: 121,051,213 (GRCm39) G26C possibly damaging Het
Vmn2r88 A T 14: 51,651,611 (GRCm39) E308D probably benign Het
Other mutations in Skic8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Skic8 APN 9 54,635,470 (GRCm39) missense probably damaging 1.00
IGL02481:Skic8 APN 9 54,635,545 (GRCm39) missense probably damaging 1.00
IGL03138:Skic8 APN 9 54,635,447 (GRCm39) splice site probably benign
ANU22:Skic8 UTSW 9 54,635,470 (GRCm39) missense probably damaging 1.00
R0360:Skic8 UTSW 9 54,634,862 (GRCm39) splice site probably benign
R0528:Skic8 UTSW 9 54,630,219 (GRCm39) splice site probably benign
R3162:Skic8 UTSW 9 54,631,473 (GRCm39) intron probably benign
R4609:Skic8 UTSW 9 54,635,463 (GRCm39) missense probably benign 0.28
R6554:Skic8 UTSW 9 54,634,929 (GRCm39) missense probably damaging 1.00
R7046:Skic8 UTSW 9 54,626,539 (GRCm39) missense probably damaging 1.00
R8401:Skic8 UTSW 9 54,635,539 (GRCm39) missense probably benign 0.00
X0017:Skic8 UTSW 9 54,626,563 (GRCm39) splice site probably null
Posted On 2015-04-16