Incidental Mutation 'IGL01874:Skiv2l'
ID178832
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Skiv2l
Ensembl Gene ENSMUSG00000040356
Gene Namesuperkiller viralicidic activity 2-like (S. cerevisiae)
Synonyms4930534J06Rik, Ski2w
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01874
Quality Score
Status
Chromosome17
Chromosomal Location34839228-34850210 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34841209 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 114 (N114D)
Ref Sequence ENSEMBL: ENSMUSP00000134209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046022] [ENSMUST00000046244] [ENSMUST00000077477] [ENSMUST00000159333] [ENSMUST00000161885] [ENSMUST00000172612] [ENSMUST00000173063] [ENSMUST00000173415] [ENSMUST00000173768] [ENSMUST00000173874] [ENSMUST00000173995] [ENSMUST00000174092] [ENSMUST00000180043]
Predicted Effect probably benign
Transcript: ENSMUST00000046022
AA Change: N862D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036265
Gene: ENSMUSG00000040356
AA Change: N862D

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: ENSMUST00000046244
SMART Domains Protein: ENSMUSP00000047018
Gene: ENSMUSG00000040482

DomainStartEndE-ValueType
low complexity region 168 184 N/A INTRINSIC
Pfam:RAI1 235 303 2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077477
SMART Domains Protein: ENSMUSP00000076686
Gene: ENSMUSG00000061207

DomainStartEndE-ValueType
Pfam:Stk19 37 251 1e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159333
SMART Domains Protein: ENSMUSP00000125311
Gene: ENSMUSG00000061207

DomainStartEndE-ValueType
Pfam:Stk19 1 129 3.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161238
Predicted Effect probably benign
Transcript: ENSMUST00000161885
Predicted Effect probably benign
Transcript: ENSMUST00000172612
SMART Domains Protein: ENSMUSP00000133376
Gene: ENSMUSG00000040482

DomainStartEndE-ValueType
Pfam:RAI1 5 73 1.6e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172878
Predicted Effect probably benign
Transcript: ENSMUST00000173063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173403
Predicted Effect probably benign
Transcript: ENSMUST00000173415
AA Change: N114D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134209
Gene: ENSMUSG00000040356
AA Change: N114D

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: ENSMUST00000173644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173768
SMART Domains Protein: ENSMUSP00000134052
Gene: ENSMUSG00000040482

DomainStartEndE-ValueType
Pfam:RAI1 1 33 5.6e-15 PFAM
low complexity region 54 64 N/A INTRINSIC
low complexity region 73 88 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173874
SMART Domains Protein: ENSMUSP00000134332
Gene: ENSMUSG00000040482

DomainStartEndE-ValueType
low complexity region 168 184 N/A INTRINSIC
Pfam:RAI1 235 303 4.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173995
SMART Domains Protein: ENSMUSP00000134583
Gene: ENSMUSG00000040482

DomainStartEndE-ValueType
PDB:3FQJ|A 1 144 5e-99 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000174092
SMART Domains Protein: ENSMUSP00000133587
Gene: ENSMUSG00000040482

DomainStartEndE-ValueType
Pfam:RAI1 110 151 5.3e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174363
Predicted Effect probably benign
Transcript: ENSMUST00000174569
SMART Domains Protein: ENSMUSP00000133448
Gene: ENSMUSG00000040482

DomainStartEndE-ValueType
Pfam:RAI1 15 65 1.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174684
SMART Domains Protein: ENSMUSP00000134653
Gene: ENSMUSG00000040482

DomainStartEndE-ValueType
PDB:3FQJ|A 2 48 1e-11 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174887
Predicted Effect probably benign
Transcript: ENSMUST00000180043
SMART Domains Protein: ENSMUSP00000137234
Gene: ENSMUSG00000040482

DomainStartEndE-ValueType
low complexity region 168 184 N/A INTRINSIC
Pfam:RAI1 235 302 2e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184474
Coding Region Coverage
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 A T 13: 70,768,704 V723D possibly damaging Het
Adgrb1 G A 15: 74,541,574 V536I possibly damaging Het
Aox4 T C 1: 58,252,084 L787S probably damaging Het
Atp2c1 A C 9: 105,448,825 V293G probably damaging Het
Ccnb1 T C 13: 100,783,493 D170G probably damaging Het
Cdc42 T C 4: 137,336,070 I4V probably benign Het
Clip1 T C 5: 123,603,666 Q1175R possibly damaging Het
Cox6a1 A G 5: 115,345,845 *113Q probably null Het
Crtc2 C T 3: 90,258,508 P139L probably damaging Het
Cyp8b1 A T 9: 121,915,903 M121K possibly damaging Het
D630003M21Rik C A 2: 158,204,724 G778C probably damaging Het
Dgat1 A G 15: 76,503,041 F349L probably damaging Het
Enox1 A G 14: 77,579,162 Y194C probably damaging Het
Fam120b T A 17: 15,403,039 C426* probably null Het
Fam129b A T 2: 32,905,767 probably null Het
Fxyd3 A G 7: 31,070,893 probably benign Het
Gin1 A G 1: 97,783,072 Y160C probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm11110 T A 17: 57,092,693 probably benign Het
Gm1818 T C 12: 48,556,190 noncoding transcript Het
Gucy1a2 T C 9: 3,797,343 S598P probably damaging Het
Hook3 T A 8: 26,039,732 N199Y possibly damaging Het
Il10ra A G 9: 45,267,160 L41P probably damaging Het
Itgam C T 7: 128,115,166 T949I probably damaging Het
Kctd3 A G 1: 188,996,991 V123A probably damaging Het
Krt84 G A 15: 101,527,804 A450V probably damaging Het
Lrrc7 G A 3: 158,240,443 probably benign Het
Nckap1 A G 2: 80,525,636 F608L probably damaging Het
Nmbr A T 10: 14,766,952 Y85F probably benign Het
Nol6 A C 4: 41,115,412 L1135R probably damaging Het
Ntan1 T C 16: 13,835,213 F278L probably benign Het
Olfr138 T A 17: 38,275,517 S249T probably benign Het
Pcsk5 T A 19: 17,595,677 T474S probably damaging Het
Pex11b T A 3: 96,643,567 probably null Het
Pkhd1 G T 1: 20,103,235 A3786E probably benign Het
Prkdc T C 16: 15,734,994 I2098T possibly damaging Het
Prl2c5 T A 13: 13,190,777 S169R probably benign Het
Ptbp2 A G 3: 119,747,800 V196A probably damaging Het
Rad17 T C 13: 100,617,684 probably benign Het
Slc47a2 T A 11: 61,312,859 probably null Het
Srcin1 A T 11: 97,533,098 M684K possibly damaging Het
Sspo T A 6: 48,452,190 C298S probably damaging Het
Tenm3 G T 8: 48,236,758 Y1915* probably null Het
Tnks1bp1 A G 2: 85,058,447 T373A probably benign Het
Trp63 A C 16: 25,882,585 N470H possibly damaging Het
Ttn T C 2: 76,798,563 N12703S probably damaging Het
Ubr4 T C 4: 139,393,289 probably benign Het
Vmn2r56 T A 7: 12,715,675 Y212F probably benign Het
Other mutations in Skiv2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Skiv2l APN 17 34839548 missense probably damaging 1.00
IGL00338:Skiv2l APN 17 34846667 missense probably damaging 0.99
IGL01284:Skiv2l APN 17 34839688 unclassified probably benign
IGL01308:Skiv2l APN 17 34840634 missense probably benign 0.19
IGL02114:Skiv2l APN 17 34841116 missense probably damaging 0.97
IGL02208:Skiv2l APN 17 34841675 missense probably damaging 0.99
IGL02274:Skiv2l APN 17 34845863 missense probably damaging 1.00
IGL02729:Skiv2l APN 17 34839605 missense possibly damaging 0.63
IGL02839:Skiv2l APN 17 34847798 missense probably benign
R0325:Skiv2l UTSW 17 34844815 missense possibly damaging 0.50
R1102:Skiv2l UTSW 17 34840106 missense probably benign 0.28
R1294:Skiv2l UTSW 17 34841064 splice site probably null
R1513:Skiv2l UTSW 17 34847444 missense probably damaging 1.00
R1557:Skiv2l UTSW 17 34848422 missense probably damaging 1.00
R1747:Skiv2l UTSW 17 34847806 missense probably benign 0.02
R2401:Skiv2l UTSW 17 34840385 missense probably benign
R3162:Skiv2l UTSW 17 34847813 nonsense probably null
R3162:Skiv2l UTSW 17 34847813 nonsense probably null
R3695:Skiv2l UTSW 17 34847912 missense probably damaging 1.00
R3700:Skiv2l UTSW 17 34849903 missense probably benign
R4654:Skiv2l UTSW 17 34849946 missense probably damaging 1.00
R4736:Skiv2l UTSW 17 34848197 missense possibly damaging 0.91
R4835:Skiv2l UTSW 17 34842921 missense possibly damaging 0.66
R5014:Skiv2l UTSW 17 34847425 missense probably benign 0.00
R5181:Skiv2l UTSW 17 34844826 missense probably benign 0.44
R5223:Skiv2l UTSW 17 34845166 critical splice donor site probably null
R5417:Skiv2l UTSW 17 34846598 missense probably damaging 0.98
R5623:Skiv2l UTSW 17 34847432 missense probably benign 0.00
R5878:Skiv2l UTSW 17 34846117 missense possibly damaging 0.83
R5979:Skiv2l UTSW 17 34841463 missense probably benign 0.01
R6412:Skiv2l UTSW 17 34840300 missense possibly damaging 0.92
R6501:Skiv2l UTSW 17 34844436 missense possibly damaging 0.95
R6532:Skiv2l UTSW 17 34844743 missense probably damaging 1.00
R6730:Skiv2l UTSW 17 34845190 nonsense probably null
R6732:Skiv2l UTSW 17 34845190 nonsense probably null
R6741:Skiv2l UTSW 17 34845190 nonsense probably null
R6742:Skiv2l UTSW 17 34845190 nonsense probably null
R6769:Skiv2l UTSW 17 34845190 nonsense probably null
R6771:Skiv2l UTSW 17 34845190 nonsense probably null
R7022:Skiv2l UTSW 17 34845207 missense possibly damaging 0.88
R7096:Skiv2l UTSW 17 34841470 missense probably benign
R7178:Skiv2l UTSW 17 34839464 missense probably benign
R7315:Skiv2l UTSW 17 34841169 missense probably benign 0.00
R7584:Skiv2l UTSW 17 34841675 missense possibly damaging 0.69
R7677:Skiv2l UTSW 17 34848164 missense probably benign 0.03
R7796:Skiv2l UTSW 17 34844418 missense probably damaging 1.00
Z1176:Skiv2l UTSW 17 34841546 missense probably benign
Posted On2014-05-07