Incidental Mutation 'R9016:Skic2'
ID 686030
Institutional Source Beutler Lab
Gene Symbol Skic2
Ensembl Gene ENSMUSG00000040356
Gene Name SKI2 subunit of superkiller complex
Synonyms 4930534J06Rik, Ski2w, Skiv2l
MMRRC Submission 068846-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9016 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 35058202-35069180 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 35063640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 601 (L601R)
Ref Sequence ENSEMBL: ENSMUSP00000036265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046022] [ENSMUST00000172966] [ENSMUST00000173415]
AlphaFold Q6NZR5
Predicted Effect probably damaging
Transcript: ENSMUST00000046022
AA Change: L601R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036265
Gene: ENSMUSG00000040356
AA Change: L601R

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: ENSMUST00000172966
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa2 C A 18: 74,932,154 (GRCm39) S264R probably damaging Het
Agap1 T C 1: 89,694,188 (GRCm39) probably null Het
Amer2 G C 14: 60,617,376 (GRCm39) D524H probably damaging Het
Ank1 G A 8: 23,606,264 (GRCm39) G1219S probably null Het
Apob C T 12: 8,035,408 (GRCm39) silent Het
Atg2a G C 19: 6,300,111 (GRCm39) A640P probably damaging Het
AW209491 G A 13: 14,812,193 (GRCm39) V349M probably damaging Het
Bmpr2 C T 1: 59,854,460 (GRCm39) T103I probably damaging Het
Btaf1 A C 19: 36,971,705 (GRCm39) E1231D probably benign Het
Btbd7 T C 12: 102,751,417 (GRCm39) R1116G probably damaging Het
Catsperg1 A T 7: 28,891,162 (GRCm39) M627K probably benign Het
Cdk7 G A 13: 100,854,126 (GRCm39) T121I probably benign Het
Csmd3 T A 15: 47,522,438 (GRCm39) T1833S Het
Dapk3 A T 10: 81,028,266 (GRCm39) R279W probably damaging Het
Dennd2b A C 7: 109,139,642 (GRCm39) D645E possibly damaging Het
Dnah9 T C 11: 65,998,856 (GRCm39) E1064G probably damaging Het
Dner T C 1: 84,673,226 (GRCm39) E75G probably benign Het
Dnmt1 T C 9: 20,847,855 (GRCm39) E229G possibly damaging Het
Fam171a1 G A 2: 3,227,434 (GRCm39) A856T probably benign Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fen1 A T 19: 10,178,306 (GRCm39) V46D probably damaging Het
Ffar3 T C 7: 30,554,454 (GRCm39) R289G probably damaging Het
Fhod3 G A 18: 25,243,136 (GRCm39) E1165K possibly damaging Het
Fras1 A T 5: 96,783,923 (GRCm39) H809L probably damaging Het
Gbp7 A T 3: 142,249,870 (GRCm39) E447V probably benign Het
Gja8 T C 3: 96,827,521 (GRCm39) D47G probably damaging Het
Gm5795 A G 14: 14,883,574 (GRCm39) K144E probably benign Het
Gm7298 A C 6: 121,758,800 (GRCm39) Q1139H possibly damaging Het
Gpa33 A T 1: 165,992,730 (GRCm39) Y281F probably damaging Het
H2-M10.5 G A 17: 37,084,226 (GRCm39) E63K possibly damaging Het
Hgf T C 5: 16,823,956 (GRCm39) W718R probably damaging Het
Ifna5 C G 4: 88,754,046 (GRCm39) D95E probably benign Het
Ifnar2 T C 16: 91,201,073 (GRCm39) L438P possibly damaging Het
Ints1 T C 5: 139,744,326 (GRCm39) T1479A probably benign Het
Kif1a C T 1: 92,953,395 (GRCm39) R1263H probably damaging Het
Ltbp2 T C 12: 84,856,467 (GRCm39) T686A probably benign Het
Med12l A T 3: 59,163,294 (GRCm39) E1307V probably damaging Het
Mtcl1 T A 17: 66,651,062 (GRCm39) T1468S probably damaging Het
Myo9a C T 9: 59,775,427 (GRCm39) Q1013* probably null Het
Nckap5 T C 1: 126,623,491 (GRCm39) M1V probably null Het
Nos3 G T 5: 24,588,639 (GRCm39) V1122F probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Odad1 T G 7: 45,585,988 (GRCm39) C128W probably damaging Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or52n4 A T 7: 104,293,828 (GRCm39) C250* probably null Het
Oscar A G 7: 3,619,072 (GRCm39) V2A probably benign Het
P2rx6 T A 16: 17,385,304 (GRCm39) H132Q possibly damaging Het
Pakap T C 4: 57,637,857 (GRCm39) C12R unknown Het
Pde6b T A 5: 108,536,592 (GRCm39) M96K possibly damaging Het
Polq T A 16: 36,843,159 (GRCm39) L231Q probably damaging Het
Pramel23 T C 4: 143,423,899 (GRCm39) I297V possibly damaging Het
Prrc2a G A 17: 35,378,844 (GRCm39) T399I unknown Het
Rapsn A G 2: 90,867,172 (GRCm39) D158G probably damaging Het
Rcor1 T A 12: 111,047,933 (GRCm39) probably benign Het
Sema4d G T 13: 51,867,794 (GRCm39) P186T probably damaging Het
Slc4a7 G A 14: 14,773,241 (GRCm38) R737Q probably damaging Het
Sorbs2 T G 8: 46,248,774 (GRCm39) V675G probably benign Het
Sox15 T G 11: 69,546,529 (GRCm39) Y111D probably damaging Het
Spen C T 4: 141,200,938 (GRCm39) C2563Y probably damaging Het
Taf8 A T 17: 47,807,527 (GRCm39) D153E probably damaging Het
Tet3 G A 6: 83,345,253 (GRCm39) A1728V probably damaging Het
Tmem232 A T 17: 65,737,778 (GRCm39) D427E probably benign Het
Tmem53 T C 4: 117,125,451 (GRCm39) I188T probably benign Het
Tnc T G 4: 63,935,331 (GRCm39) D535A probably benign Het
Tnfrsf11a G A 1: 105,754,854 (GRCm39) A309T possibly damaging Het
Tnik G A 3: 28,692,544 (GRCm39) G867R probably damaging Het
Uba3 A T 6: 97,162,694 (GRCm39) C367* probably null Het
Vmn1r235 G T 17: 21,481,969 (GRCm39) S98I possibly damaging Het
Vmn2r15 T C 5: 109,442,109 (GRCm39) E108G probably benign Het
Xrra1 T A 7: 99,525,462 (GRCm39) I127N probably benign Het
Zc3h18 G A 8: 123,129,963 (GRCm39) R447Q unknown Het
Zcwpw1 C A 5: 137,798,340 (GRCm39) P179Q probably damaging Het
Zfp526 C T 7: 24,925,264 (GRCm39) H508Y probably damaging Het
Zfp583 T C 7: 6,320,404 (GRCm39) K203E probably benign Het
Zfp979 A G 4: 147,697,504 (GRCm39) C402R possibly damaging Het
Zxdc A G 6: 90,359,254 (GRCm39) T629A 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
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
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'- AGGTGTAGAAGGAACCCCTC -3'
(R):5'- CTGACTTGAACATGACTTCACC -3'

Sequencing Primer
(F):5'- TAGAAGGAACCCCTCGGCAG -3'
(R):5'- GACTTGAACATGACTTCACCACTTC -3'
Posted On 2021-10-11