Incidental Mutation 'ANU22:Skic8'
ID 262587
Institutional Source Beutler Lab
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 # ANU22
Quality Score 225
Status Not validated
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
  • 1x: 98.7%
  • 3x: 98.1%
  • 10x: 96.2%
  • 20x: 92.5%
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: 43 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
Adamts2 A G 11: 50,628,190 (GRCm39) N297D 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
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
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
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
Ptprd C A 4: 76,018,693 (GRCm39) D694Y probably damaging Het
Relt A T 7: 100,500,905 (GRCm39) L28Q probably damaging Het
Sptbn4 G A 7: 27,056,812 (GRCm39) R2525* probably null 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
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null 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
Zfp397 C T 18: 24,093,808 (GRCm39) S431L probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TCATCACGCCTACAGTAGGGACAG -3'
(R):5'- TCCCACAAGTCCAGTGGTACAGTG -3'

Sequencing Primer
(F):5'- gagagagagggggagagag -3'
(R):5'- AGAGTTGTCAGCTTGTATTTCACC -3'
Posted On 2015-02-04