Incidental Mutation 'R4654:Skic2'
ID 351583
Institutional Source Beutler Lab
Gene Symbol Skic2
Ensembl Gene ENSMUSG00000040356
Gene Name SKI2 subunit of superkiller complex
Synonyms 4930534J06Rik, Ski2w, Skiv2l
MMRRC Submission 041914-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4654 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 35058202-35069180 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35068922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 26 (C26R)
Ref Sequence ENSEMBL: ENSMUSP00000036265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046022] [ENSMUST00000097343] [ENSMUST00000165953] [ENSMUST00000172966] [ENSMUST00000173065] [ENSMUST00000173357]
AlphaFold Q6NZR5
Predicted Effect probably damaging
Transcript: ENSMUST00000046022
AA Change: C26R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036265
Gene: ENSMUSG00000040356
AA Change: C26R

DomainStartEndE-ValueType
low complexity region 7 22 N/A INTRINSIC
low complexity region 171 176 N/A INTRINSIC
low complexity region 208 237 N/A INTRINSIC
low complexity region 269 279 N/A INTRINSIC
DEXDc 304 487 3.61e-28 SMART
low complexity region 583 592 N/A INTRINSIC
HELICc 619 705 8.63e-17 SMART
Pfam:rRNA_proc-arch 760 1044 9.7e-39 PFAM
DSHCT 1067 1243 7.67e-77 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097343
SMART Domains Protein: ENSMUSP00000094956
Gene: ENSMUSG00000024369

DomainStartEndE-ValueType
coiled coil region 7 36 N/A INTRINSIC
low complexity region 147 167 N/A INTRINSIC
low complexity region 184 239 N/A INTRINSIC
RRM 259 324 7.25e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165953
SMART Domains Protein: ENSMUSP00000131195
Gene: ENSMUSG00000024369

DomainStartEndE-ValueType
coiled coil region 7 36 N/A INTRINSIC
low complexity region 147 167 N/A INTRINSIC
low complexity region 184 239 N/A INTRINSIC
RRM 259 324 7.25e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172686
Predicted Effect probably benign
Transcript: ENSMUST00000172966
Predicted Effect probably benign
Transcript: ENSMUST00000173065
SMART Domains Protein: ENSMUSP00000133934
Gene: ENSMUSG00000024369

DomainStartEndE-ValueType
coiled coil region 7 36 N/A INTRINSIC
low complexity region 147 167 N/A INTRINSIC
low complexity region 184 228 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174075
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173403
Predicted Effect probably benign
Transcript: ENSMUST00000173357
SMART Domains Protein: ENSMUSP00000134272
Gene: ENSMUSG00000024369

DomainStartEndE-ValueType
coiled coil region 7 36 N/A INTRINSIC
low complexity region 147 167 N/A INTRINSIC
low complexity region 184 239 N/A INTRINSIC
RRM 259 324 7.25e-12 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (98/101)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E6. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 A T 8: 25,193,819 (GRCm39) C398S probably damaging Het
Adamts10 A G 17: 33,756,304 (GRCm39) K316E possibly damaging Het
Ap1m1 T C 8: 73,006,717 (GRCm39) F238L possibly damaging Het
Aph1a T A 3: 95,803,088 (GRCm39) D180E probably benign Het
Atp9b A G 18: 80,935,093 (GRCm39) F201L probably benign Het
Btbd9 A C 17: 30,704,561 (GRCm39) probably benign Het
C2cd5 T C 6: 142,975,910 (GRCm39) T768A probably benign Het
Casq1 C T 1: 172,037,965 (GRCm39) probably benign Het
Cimap2 C A 4: 106,467,612 (GRCm39) M341I probably benign Het
Cltc A T 11: 86,617,196 (GRCm39) M351K probably benign Het
Cnp A G 11: 100,469,877 (GRCm39) E271G possibly damaging Het
Col22a1 T C 15: 71,845,544 (GRCm39) D406G possibly damaging Het
Cylc2 T C 4: 51,228,279 (GRCm39) S117P probably benign Het
Cyp2b13 T C 7: 25,761,072 (GRCm39) L43P probably damaging Het
Cyp3a16 A G 5: 145,373,267 (GRCm39) V500A probably benign Het
Dclk2 T C 3: 86,743,683 (GRCm39) D262G probably damaging Het
Dcun1d3 A C 7: 119,458,742 (GRCm39) Y98D probably damaging Het
Ddx39b A G 17: 35,472,464 (GRCm39) *429W probably null Het
Dennd5b T C 6: 148,908,335 (GRCm39) N986S probably damaging Het
Dipk1a T C 5: 108,057,982 (GRCm39) probably null Het
Dusp9 G A X: 72,684,378 (GRCm39) R182Q probably benign Het
Ecpas A T 4: 58,834,523 (GRCm39) I785N possibly damaging Het
Edil3 A G 13: 89,437,589 (GRCm39) K397E probably damaging Het
Ehd1 T C 19: 6,326,994 (GRCm39) probably benign Het
Fam13a A T 6: 58,964,152 (GRCm39) H93Q probably benign Het
Farp1 T C 14: 121,513,716 (GRCm39) I837T possibly damaging Het
Fbxl5 T A 5: 43,922,771 (GRCm39) I216F probably damaging Het
Gadl1 G A 9: 115,770,408 (GRCm39) E74K probably damaging Het
Gnpnat1 A G 14: 45,618,436 (GRCm39) V122A probably damaging Het
Hdac10 C T 15: 89,011,036 (GRCm39) probably benign Het
Heatr5b T C 17: 79,128,130 (GRCm39) S502G possibly damaging Het
Hr C A 14: 70,801,013 (GRCm39) A695E probably damaging Het
Ift80 A T 3: 68,825,870 (GRCm39) I490N possibly damaging Het
Ipo11 A G 13: 106,970,692 (GRCm39) probably benign Het
Iqch T G 9: 63,432,195 (GRCm39) Y400S probably damaging Het
Jag2 C T 12: 112,877,266 (GRCm39) D702N probably benign Het
Kiss1r T A 10: 79,757,624 (GRCm39) L326Q probably damaging Het
Lrrc42 A T 4: 107,104,746 (GRCm39) I73N probably damaging Het
Lrrc55 C T 2: 85,026,880 (GRCm39) G48D possibly damaging Het
Lrrk2 T C 15: 91,649,884 (GRCm39) S1674P probably damaging Het
Mctp2 A G 7: 71,739,942 (GRCm39) L816P probably damaging Het
Mipol1 A T 12: 57,352,918 (GRCm39) T86S probably benign Het
Mkrn3 C T 7: 62,069,452 (GRCm39) R113H probably damaging Het
Mmp1b A G 9: 7,370,849 (GRCm39) V302A probably benign Het
Msc A T 1: 14,826,053 (GRCm39) probably null Het
Msmo1 C A 8: 65,180,888 (GRCm39) V9L probably benign Het
Nbeal2 G A 9: 110,461,072 (GRCm39) R1630C probably damaging Het
Nlgn1 C T 3: 26,187,850 (GRCm39) V12I possibly damaging Het
Npas3 T C 12: 54,108,915 (GRCm39) probably null Het
Nr2e3 A G 9: 59,856,355 (GRCm39) probably benign Het
Oca2 C T 7: 55,978,560 (GRCm39) A576V probably benign Het
Or5b21 T A 19: 12,839,596 (GRCm39) C152* probably null Het
Or6d12 T C 6: 116,493,409 (GRCm39) Y224H probably damaging Het
Or6z7 T C 7: 6,484,045 (GRCm39) T37A probably benign Het
Parp6 A G 9: 59,548,383 (GRCm39) probably null Het
Pate13 T A 9: 35,820,287 (GRCm39) C4S probably damaging Het
Phlpp1 A T 1: 106,267,231 (GRCm39) M715L probably benign Het
Pi4k2a G A 19: 42,101,544 (GRCm39) probably null Het
Pik3ap1 A G 19: 41,316,348 (GRCm39) S305P probably damaging Het
Plcg2 G A 8: 118,231,054 (GRCm39) M45I probably benign Het
Ppm1m A T 9: 106,073,601 (GRCm39) L317H probably damaging Het
Ppp1r21 T G 17: 88,866,227 (GRCm39) M341R probably benign Het
Prdx3 A G 19: 60,853,674 (GRCm39) V217A possibly damaging Het
Ptk2b A G 14: 66,400,496 (GRCm39) V773A possibly damaging Het
Raly T C 2: 154,699,376 (GRCm39) V60A probably damaging Het
Reps1 A G 10: 17,990,148 (GRCm39) D420G probably damaging Het
Rev1 A T 1: 38,118,337 (GRCm39) probably benign Het
Rgs2 T G 1: 143,878,650 (GRCm39) probably benign Het
Rlf G T 4: 121,007,798 (GRCm39) T394K probably benign Het
Rptn A T 3: 93,304,792 (GRCm39) R708S possibly damaging Het
Sec23b T A 2: 144,414,494 (GRCm39) M402K probably benign Het
Slx9 T C 10: 77,325,860 (GRCm39) M170V possibly damaging Het
Smpd4 A G 16: 17,459,992 (GRCm39) probably benign Het
Synj2 A G 17: 6,063,813 (GRCm39) E434G probably damaging Het
Tatdn2 T A 6: 113,684,326 (GRCm39) F64I probably benign Het
Tex21 A C 12: 76,263,860 (GRCm39) H177Q probably benign Het
Tln1 T A 4: 43,535,954 (GRCm39) Q2077L probably null Het
Tnrc6c T C 11: 117,611,797 (GRCm39) V145A probably benign Het
Ttn C T 2: 76,616,936 (GRCm39) probably benign Het
Uggt2 A G 14: 119,269,670 (GRCm39) F954S possibly damaging Het
Ugt2a1 A G 5: 87,634,083 (GRCm39) S175P probably damaging Het
Vcl A G 14: 21,035,820 (GRCm39) probably null Het
Vegfa A T 17: 46,336,176 (GRCm39) probably benign Het
Vmn2r68 G A 7: 84,882,769 (GRCm39) Q328* probably null Het
Vmn2r7 A G 3: 64,626,864 (GRCm39) Y142H probably benign Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Ybx3 G T 6: 131,347,290 (GRCm39) R282S probably damaging Het
Zfp566 T C 7: 29,777,194 (GRCm39) H329R probably damaging Het
Zfp786 T C 6: 47,797,868 (GRCm39) I357V probably benign Het
Zfr2 C A 10: 81,087,083 (GRCm39) probably null Het
Other mutations in Skic2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Skic2 APN 17 35,058,524 (GRCm39) missense probably damaging 1.00
IGL00338:Skic2 APN 17 35,065,643 (GRCm39) missense probably damaging 0.99
IGL01284:Skic2 APN 17 35,058,664 (GRCm39) unclassified probably benign
IGL01308:Skic2 APN 17 35,059,610 (GRCm39) missense probably benign 0.19
IGL01874:Skic2 APN 17 35,060,185 (GRCm39) missense probably benign
IGL02114:Skic2 APN 17 35,060,092 (GRCm39) missense probably damaging 0.97
IGL02208:Skic2 APN 17 35,060,651 (GRCm39) missense probably damaging 0.99
IGL02274:Skic2 APN 17 35,064,839 (GRCm39) missense probably damaging 1.00
IGL02729:Skic2 APN 17 35,058,581 (GRCm39) missense possibly damaging 0.63
IGL02839:Skic2 APN 17 35,066,774 (GRCm39) missense probably benign
R0325:Skic2 UTSW 17 35,063,791 (GRCm39) missense possibly damaging 0.50
R1102:Skic2 UTSW 17 35,059,082 (GRCm39) missense probably benign 0.28
R1294:Skic2 UTSW 17 35,060,040 (GRCm39) splice site probably null
R1513:Skic2 UTSW 17 35,066,420 (GRCm39) missense probably damaging 1.00
R1557:Skic2 UTSW 17 35,067,398 (GRCm39) missense probably damaging 1.00
R1747:Skic2 UTSW 17 35,066,782 (GRCm39) missense probably benign 0.02
R2401:Skic2 UTSW 17 35,059,361 (GRCm39) missense probably benign
R3162:Skic2 UTSW 17 35,066,789 (GRCm39) nonsense probably null
R3162:Skic2 UTSW 17 35,066,789 (GRCm39) nonsense probably null
R3695:Skic2 UTSW 17 35,066,888 (GRCm39) missense probably damaging 1.00
R3700:Skic2 UTSW 17 35,068,879 (GRCm39) missense probably benign
R4736:Skic2 UTSW 17 35,067,173 (GRCm39) missense possibly damaging 0.91
R4835:Skic2 UTSW 17 35,061,897 (GRCm39) missense possibly damaging 0.66
R5014:Skic2 UTSW 17 35,066,401 (GRCm39) missense probably benign 0.00
R5181:Skic2 UTSW 17 35,063,802 (GRCm39) missense probably benign 0.44
R5223:Skic2 UTSW 17 35,064,142 (GRCm39) critical splice donor site probably null
R5417:Skic2 UTSW 17 35,065,574 (GRCm39) missense probably damaging 0.98
R5623:Skic2 UTSW 17 35,066,408 (GRCm39) missense probably benign 0.00
R5878:Skic2 UTSW 17 35,065,093 (GRCm39) missense possibly damaging 0.83
R5979:Skic2 UTSW 17 35,060,439 (GRCm39) missense probably benign 0.01
R6412:Skic2 UTSW 17 35,059,276 (GRCm39) missense possibly damaging 0.92
R6501:Skic2 UTSW 17 35,063,412 (GRCm39) missense possibly damaging 0.95
R6532:Skic2 UTSW 17 35,063,719 (GRCm39) missense probably damaging 1.00
R6730:Skic2 UTSW 17 35,064,166 (GRCm39) nonsense probably null
R6732:Skic2 UTSW 17 35,064,166 (GRCm39) nonsense probably null
R6741:Skic2 UTSW 17 35,064,166 (GRCm39) nonsense probably null
R6742:Skic2 UTSW 17 35,064,166 (GRCm39) nonsense probably null
R6769:Skic2 UTSW 17 35,064,166 (GRCm39) nonsense probably null
R6771:Skic2 UTSW 17 35,064,166 (GRCm39) nonsense probably null
R7022:Skic2 UTSW 17 35,064,183 (GRCm39) missense possibly damaging 0.88
R7096:Skic2 UTSW 17 35,060,446 (GRCm39) missense probably benign
R7178:Skic2 UTSW 17 35,058,440 (GRCm39) missense probably benign
R7315:Skic2 UTSW 17 35,060,145 (GRCm39) missense probably benign 0.00
R7584:Skic2 UTSW 17 35,060,651 (GRCm39) missense possibly damaging 0.69
R7677:Skic2 UTSW 17 35,067,140 (GRCm39) missense probably benign 0.03
R7796:Skic2 UTSW 17 35,063,394 (GRCm39) missense probably damaging 1.00
R8071:Skic2 UTSW 17 35,068,975 (GRCm39) missense probably benign 0.22
R8407:Skic2 UTSW 17 35,060,103 (GRCm39) missense probably benign 0.00
R8991:Skic2 UTSW 17 35,059,166 (GRCm39) missense probably damaging 1.00
R9016:Skic2 UTSW 17 35,063,640 (GRCm39) missense probably damaging 0.98
R9021:Skic2 UTSW 17 35,065,579 (GRCm39) missense probably damaging 1.00
R9196:Skic2 UTSW 17 35,068,877 (GRCm39) missense probably benign 0.00
R9243:Skic2 UTSW 17 35,064,198 (GRCm39) missense probably benign 0.33
R9322:Skic2 UTSW 17 35,066,439 (GRCm39) critical splice acceptor site probably null
R9475:Skic2 UTSW 17 35,060,078 (GRCm39) missense probably benign
R9564:Skic2 UTSW 17 35,063,758 (GRCm39) missense probably benign
R9565:Skic2 UTSW 17 35,063,758 (GRCm39) missense probably benign
Z1176:Skic2 UTSW 17 35,060,522 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTCCAGTAGAGTGGGATCTGTCC -3'
(R):5'- TACTCTGAGTTTCCGGGCTG -3'

Sequencing Primer
(F):5'- ATCTGTCCAGCATGAGCCG -3'
(R):5'- TGGAGACGGAGCGACTC -3'
Posted On 2015-10-08