Incidental Mutation 'IGL02481:Skic8'
ID 295193
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 # IGL02481
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b8 G A 6: 34,340,729 (GRCm39) A209T probably damaging Het
Ccdc90b G A 7: 92,223,854 (GRCm39) V117I probably benign Het
Cdkl2 A T 5: 92,185,130 (GRCm39) I87N probably damaging Het
Cfap57 T A 4: 118,438,302 (GRCm39) E863V probably damaging Het
Clca3a2 G A 3: 144,790,701 (GRCm39) S457L possibly damaging Het
Crim1 C T 17: 78,658,227 (GRCm39) T702I 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
Dnm3 A G 1: 161,838,471 (GRCm39) S826P probably damaging Het
Dspp A G 5: 104,323,514 (GRCm39) N219S possibly damaging Het
Dzip3 T C 16: 48,795,914 (GRCm39) probably benign 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
Gata4 T C 14: 63,437,910 (GRCm39) T414A probably benign Het
Gmps A G 3: 63,921,773 (GRCm39) D592G probably damaging Het
Grin3a A G 4: 49,702,868 (GRCm39) Y873H probably damaging Het
Gsr T C 8: 34,175,569 (GRCm39) probably benign Het
Gtf2h1 T C 7: 46,454,417 (GRCm39) L133P probably damaging Het
Ifna5 A C 4: 88,754,327 (GRCm39) E189A probably benign Het
Irx5 A G 8: 93,087,307 (GRCm39) Y413C probably damaging Het
Kcnk3 A G 5: 30,779,727 (GRCm39) E259G probably damaging Het
Kcnt2 T C 1: 140,282,299 (GRCm39) probably benign Het
Kif19a A G 11: 114,679,979 (GRCm39) E772G probably benign Het
Klhdc7a T A 4: 139,693,121 (GRCm39) T609S probably benign Het
Krt78 C A 15: 101,856,853 (GRCm39) probably benign Het
Lca5 A T 9: 83,305,170 (GRCm39) I212N probably damaging Het
Lgr6 T C 1: 134,929,429 (GRCm39) probably benign Het
Madd T G 2: 91,008,381 (GRCm39) T174P probably damaging Het
Mcm9 A G 10: 53,502,033 (GRCm39) I184T probably damaging Het
Mlycd G A 8: 120,137,073 (GRCm39) R431H probably damaging Het
Myh10 G A 11: 68,692,994 (GRCm39) A1393T probably benign Het
Myof G T 19: 37,926,361 (GRCm39) Y1144* probably null 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
Nnat T C 2: 157,403,167 (GRCm39) F36S possibly damaging Het
Nsd3 C A 8: 26,181,143 (GRCm39) P915T probably damaging Het
Or10ak12 C T 4: 118,666,696 (GRCm39) V122M probably benign Het
Or10k2 A C 8: 84,268,015 (GRCm39) M81L possibly damaging Het
Or1n1 A T 2: 36,749,830 (GRCm39) C177S probably damaging Het
Or2g25 A G 17: 37,970,363 (GRCm39) L287P probably damaging Het
Or4l1 G A 14: 50,166,164 (GRCm39) T279I probably damaging Het
Pkd1l3 A G 8: 110,341,414 (GRCm39) N89S unknown Het
Pkd2 T C 5: 104,634,636 (GRCm39) F556L probably damaging Het
Psen2 T A 1: 180,062,626 (GRCm39) M239L probably damaging Het
Rad50 A G 11: 53,570,876 (GRCm39) I794T probably benign Het
Ralgps1 G A 2: 33,230,741 (GRCm39) T14I probably benign Het
Rnpepl1 C T 1: 92,843,629 (GRCm39) P250S probably damaging Het
Slc47a2 A G 11: 61,227,067 (GRCm39) V167A possibly damaging Het
Tmem161b T A 13: 84,432,112 (GRCm39) V41D probably damaging Het
Vmn2r88 A T 14: 51,651,611 (GRCm39) E308D probably benign Het
Zfhx4 G A 3: 5,476,903 (GRCm39) E3148K probably damaging Het
Other mutations in Skic8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Skic8 APN 9 54,635,470 (GRCm39) missense probably damaging 1.00
IGL02483: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