Incidental Mutation 'IGL01305:Skic8'
ID 73385
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: 0.957) question?
Stock # IGL01305
Quality Score
Status
Chromosome 9
Chromosomal Location 54624437-54641833 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 54635470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 44 (V44L)
Ref Sequence ENSEMBL: ENSMUSP00000113560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051822] [ENSMUST00000118771] [ENSMUST00000121204] [ENSMUST00000127451] [ENSMUST00000130368]
AlphaFold Q9ERF3
Predicted Effect probably damaging
Transcript: ENSMUST00000051822
AA Change: V44L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000056359
Gene: ENSMUSG00000061559
AA Change: V44L

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 possibly damaging
Transcript: ENSMUST00000118771
AA Change: V44L

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112811
Gene: ENSMUSG00000061559
AA Change: V44L

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: V44L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113560
Gene: ENSMUSG00000061559
AA Change: V44L

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,797,915 (GRCm39) E663G possibly damaging Het
Adam29 T A 8: 56,324,879 (GRCm39) H525L probably benign Het
Adamts6 T A 13: 104,526,590 (GRCm39) V506E probably damaging Het
Ankfy1 G A 11: 72,655,617 (GRCm39) E1101K probably damaging Het
Arap3 C T 18: 38,124,380 (GRCm39) probably null Het
Asxl3 T A 18: 22,649,503 (GRCm39) H497Q probably benign Het
Caln1 A G 5: 130,698,392 (GRCm39) E96G probably damaging Het
Cdh23 T C 10: 60,148,403 (GRCm39) T2653A probably damaging Het
Cdk5rap2 T A 4: 70,298,472 (GRCm39) I87F possibly damaging Het
Chi3l1 A G 1: 134,110,554 (GRCm39) probably benign Het
Col27a1 A G 4: 63,218,978 (GRCm39) probably benign Het
Crybg3 T A 16: 59,349,590 (GRCm39) H934L probably damaging Het
Cyp2d22 G A 15: 82,255,869 (GRCm39) T461I probably damaging Het
Dhcr24 T C 4: 106,429,475 (GRCm39) F183L possibly damaging Het
Dnajc13 T C 9: 104,107,836 (GRCm39) probably null Het
Dusp16 A T 6: 134,695,824 (GRCm39) S336T probably benign Het
F930017D23Rik T G 10: 43,480,371 (GRCm39) noncoding transcript Het
Fasl A G 1: 161,609,407 (GRCm39) V193A probably damaging Het
Fgf5 T C 5: 98,423,175 (GRCm39) Y187H probably damaging Het
Focad C A 4: 88,311,784 (GRCm39) Q1423K probably benign Het
Gabrp T C 11: 33,505,055 (GRCm39) T249A probably damaging Het
Galnt5 A T 2: 57,915,354 (GRCm39) K637* probably null Het
Gm20479 G A 7: 27,056,812 (GRCm39) R2525* probably null Het
Grm6 A T 11: 50,750,346 (GRCm39) D503V probably benign Het
Hmg20a A T 9: 56,394,934 (GRCm39) D216V probably damaging Het
Lyst C T 13: 13,852,641 (GRCm39) R2214C probably benign Het
Micu2 T A 14: 58,181,082 (GRCm39) D184V probably damaging Het
Nabp2 T A 10: 128,244,631 (GRCm39) I52F probably damaging Het
Nat8f7 A T 6: 85,684,570 (GRCm39) L90* probably null Het
Or2z2 A T 11: 58,346,088 (GRCm39) M229K probably damaging Het
Or4k47 T C 2: 111,451,546 (GRCm39) N291S probably damaging Het
Pphln1 A G 15: 93,386,985 (GRCm39) E273G probably damaging Het
Ppil1 C A 17: 29,482,862 (GRCm39) V14F possibly damaging Het
Relt A T 7: 100,500,905 (GRCm39) L28Q probably damaging Het
Rpl21 A G 5: 146,770,996 (GRCm39) probably benign Het
Rrp36 A T 17: 46,979,017 (GRCm39) probably benign Het
St8sia5 G A 18: 77,342,358 (GRCm39) G320D probably damaging Het
Taf2 T C 15: 54,911,670 (GRCm39) E582G probably damaging Het
Tas2r116 T A 6: 132,832,406 (GRCm39) N2K probably benign Het
Tmem168 A T 6: 13,583,045 (GRCm39) V612E probably damaging Het
Unc79 A G 12: 102,968,130 (GRCm39) S119G probably damaging Het
Washc5 T A 15: 59,227,688 (GRCm39) K425* probably null Het
Wtap G T 17: 13,186,782 (GRCm39) T255K probably benign Het
Zfp148 T C 16: 33,277,313 (GRCm39) V134A probably benign Het
Other mutations in Skic8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02481:Skic8 APN 9 54,635,545 (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 2013-10-07