Incidental Mutation 'R6769:Skic2'
ID 532103
Institutional Source Beutler Lab
Gene Symbol Skic2
Ensembl Gene ENSMUSG00000040356
Gene Name SKI2 subunit of superkiller complex
Synonyms 4930534J06Rik, Ski2w, Skiv2l
MMRRC Submission 044885-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6769 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 35058202-35069180 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 35064166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 507 (R507*)
Ref Sequence ENSEMBL: ENSMUSP00000036265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046022] [ENSMUST00000172966] [ENSMUST00000173415]
AlphaFold Q6NZR5
Predicted Effect probably null
Transcript: ENSMUST00000046022
AA Change: R507*
SMART Domains Protein: ENSMUSP00000036265
Gene: ENSMUSG00000040356
AA Change: R507*

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 noncoding transcript
Transcript: ENSMUST00000172686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172878
Predicted Effect probably benign
Transcript: ENSMUST00000172966
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174226
Predicted Effect probably benign
Transcript: ENSMUST00000173415
SMART Domains Protein: ENSMUSP00000134209
Gene: ENSMUSG00000040356

DomainStartEndE-ValueType
PDB:4A4Z|A 10 81 8e-14 PDB
Blast:DEXDc 19 76 2e-29 BLAST
Blast:DEXDc 136 242 9e-28 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184474
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 98% (39/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 G T 8: 71,914,105 (GRCm39) H174Q probably damaging Het
Alox5 C A 6: 116,392,145 (GRCm39) probably null Het
Amer3 C A 1: 34,627,330 (GRCm39) A523D possibly damaging Het
Apoa4 G A 9: 46,154,465 (GRCm39) M355I probably benign Het
Atp10b T C 11: 43,094,079 (GRCm39) probably null Het
Atp9a A T 2: 168,516,820 (GRCm39) Y340N probably damaging Het
C1rb T G 6: 124,554,364 (GRCm39) S382A probably benign Het
Csmd1 A G 8: 16,121,408 (GRCm39) V1763A possibly damaging Het
Ctnnd1 C A 2: 84,450,269 (GRCm39) R317L probably damaging Het
Ctnnd1 A T 2: 84,450,454 (GRCm39) D255E probably damaging Het
Dipk1b A G 2: 26,524,875 (GRCm39) R92G probably benign Het
Dmxl2 A T 9: 54,323,808 (GRCm39) I1192N probably damaging Het
Efcab5 A G 11: 76,996,258 (GRCm39) V1101A probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Flg T C 3: 93,195,630 (GRCm39) probably benign Het
Fras1 A G 5: 96,746,800 (GRCm39) I623M possibly damaging Het
Gm7361 T A 5: 26,462,767 (GRCm39) L3* probably null Het
Gpr35 T A 1: 92,910,426 (GRCm39) M46K probably damaging Het
Ighv2-9 A T 12: 113,842,930 (GRCm39) F46I possibly damaging Het
Kdm4b C T 17: 56,658,754 (GRCm39) A33V possibly damaging Het
Klhl5 T A 5: 65,321,995 (GRCm39) Y534N probably damaging Het
Mccc1 C T 3: 36,043,992 (GRCm39) probably null Het
Memo1 A T 17: 74,508,273 (GRCm39) F270L probably damaging Het
Mnat1 A G 12: 73,319,196 (GRCm39) N273S probably benign Het
Niban2 C T 2: 32,785,666 (GRCm39) Het
Nxpe3 C A 16: 55,686,471 (GRCm39) G179V probably damaging Het
Or5b120 T A 19: 13,480,318 (GRCm39) F204I possibly damaging Het
Otp A G 13: 95,012,294 (GRCm39) D6G probably damaging Het
Prdm5 T A 6: 65,839,920 (GRCm39) I265K probably damaging Het
Ptpn4 T A 1: 119,643,698 (GRCm39) N350I probably benign Het
Rassf10 A G 7: 112,553,635 (GRCm39) M79V probably benign Het
Rassf4 T A 6: 116,618,433 (GRCm39) D215V possibly damaging Het
Rbm12 A T 2: 155,939,375 (GRCm39) I299N possibly damaging Het
Scfd2 T C 5: 74,692,117 (GRCm39) H55R probably benign Het
Scn8a A G 15: 100,933,445 (GRCm39) N1550D probably benign Het
Slc30a5 A C 13: 100,950,368 (GRCm39) S240A probably benign Het
Slc7a4 A G 16: 17,393,184 (GRCm39) V205A possibly damaging Het
Syde2 G A 3: 145,704,803 (GRCm39) G318E probably damaging Het
Ttn T A 2: 76,538,883 (GRCm39) D34649V possibly damaging Het
Vmn2r83 T A 10: 79,313,856 (GRCm39) S155T probably damaging 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
R4654:Skic2 UTSW 17 35,068,922 (GRCm39) missense probably damaging 1.00
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
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'- AGAGATTGAGTGGTCCCAGC -3'
(R):5'- TTCTTGAACCGGTTGGATCAG -3'

Sequencing Primer
(F):5'- AGCCCTCACCTGTGCAG -3'
(R):5'- CTTGAACCGGTTGGATCAGAAGTG -3'
Posted On 2018-08-29