Incidental Mutation 'P0038:Skiv2l2'
ID7682
Institutional Source Beutler Lab
Gene Symbol Skiv2l2
Ensembl Gene ENSMUSG00000016018
Gene Namesuperkiller viralicidic activity 2-like 2 (S. cerevisiae)
Synonyms2610528A15Rik
MMRRC Submission 038287-MU
Accession Numbers

Ncbi RefSeq: NM_028151.2; MGI:1919448

Is this an essential gene? Probably essential (E-score: 0.968) question?
Stock #P0038 (G1)
Quality Score
Status Validated
Chromosome13
Chromosomal Location112867418-112927398 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to C at 112910979 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 277 (Y277*)
Ref Sequence ENSEMBL: ENSMUSP00000022281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022281]
Predicted Effect probably null
Transcript: ENSMUST00000022281
AA Change: Y277*
SMART Domains Protein: ENSMUSP00000022281
Gene: ENSMUSG00000016018
AA Change: Y277*

DomainStartEndE-ValueType
low complexity region 20 37 N/A INTRINSIC
DEXDc 134 317 6.42e-34 SMART
HELICc 437 526 3.14e-19 SMART
Pfam:rRNA_proc-arch 580 839 1.7e-91 PFAM
DSHCT 863 1040 1.69e-96 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225997
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 79.6%
  • 3x: 69.7%
  • 10x: 40.2%
  • 20x: 18.1%
Validation Efficiency 86% (80/93)
Allele List at MGI

All alleles(16) : Targeted(2) Gene trapped(14)

Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad2b C A 12: 4,954,536 probably benign Het
Atmin T A 8: 116,957,036 C478* probably null Het
Cdh13 G A 8: 118,675,104 V82M probably damaging Het
Dip2c A C 13: 9,646,982 T1310P probably damaging Het
Eral1 A T 11: 78,076,021 D189E probably damaging Het
Fstl5 A G 3: 76,145,062 Y33C probably damaging Het
Gjb4 A T 4: 127,351,500 V216D probably benign Het
Lars2 T C 9: 123,377,777 V103A probably damaging Het
Mfsd12 C T 10: 81,362,218 T311I probably benign Het
Paf1 T C 7: 28,396,925 probably null Het
Rfc1 T C 5: 65,287,961 T435A probably damaging Het
Siglec1 T C 2: 131,081,439 N462S probably benign Het
Tnks1bp1 C T 2: 85,062,411 T232I probably benign Het
Trpc6 A T 9: 8,649,511 N574I possibly damaging Het
Ttll7 T C 3: 146,945,184 F700L possibly damaging Het
Zc3hav1 G A 6: 38,332,534 T451M probably damaging Het
Other mutations in Skiv2l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01077:Skiv2l2 APN 13 112914489 missense probably damaging 1.00
IGL01772:Skiv2l2 APN 13 112891325 missense probably benign 0.10
IGL01843:Skiv2l2 APN 13 112918561 splice site probably benign
IGL01972:Skiv2l2 APN 13 112881061 missense probably damaging 1.00
IGL02451:Skiv2l2 APN 13 112891347 missense probably damaging 1.00
IGL02716:Skiv2l2 APN 13 112883146 missense probably benign 0.13
IGL03234:Skiv2l2 APN 13 112880975 splice site probably benign
K3955:Skiv2l2 UTSW 13 112910979 nonsense probably null
R0067:Skiv2l2 UTSW 13 112886862 missense probably benign 0.34
R0067:Skiv2l2 UTSW 13 112886862 missense probably benign 0.34
R0086:Skiv2l2 UTSW 13 112927328 missense probably benign 0.00
R0687:Skiv2l2 UTSW 13 112914361 missense probably damaging 1.00
R1216:Skiv2l2 UTSW 13 112914342 splice site probably benign
R1218:Skiv2l2 UTSW 13 112917622 missense probably damaging 1.00
R1312:Skiv2l2 UTSW 13 112883251 nonsense probably null
R1827:Skiv2l2 UTSW 13 112913099 critical splice donor site probably null
R1852:Skiv2l2 UTSW 13 112872927 missense probably benign 0.00
R1889:Skiv2l2 UTSW 13 112887490 missense probably benign 0.00
R2205:Skiv2l2 UTSW 13 112898890 missense probably benign 0.06
R2256:Skiv2l2 UTSW 13 112876512 missense probably damaging 0.98
R2394:Skiv2l2 UTSW 13 112883168 missense probably benign 0.02
R3717:Skiv2l2 UTSW 13 112895595 missense probably damaging 1.00
R3779:Skiv2l2 UTSW 13 112903392 splice site probably benign
R4613:Skiv2l2 UTSW 13 112921739 nonsense probably null
R4939:Skiv2l2 UTSW 13 112909892 missense possibly damaging 0.91
R5452:Skiv2l2 UTSW 13 112913181 missense probably null 0.96
R5591:Skiv2l2 UTSW 13 112927356 start codon destroyed probably null 0.88
R5688:Skiv2l2 UTSW 13 112873056 nonsense probably null
R5761:Skiv2l2 UTSW 13 112917662 missense probably damaging 0.96
R5789:Skiv2l2 UTSW 13 112891285 missense probably benign 0.01
R5851:Skiv2l2 UTSW 13 112908952 missense probably damaging 1.00
R6038:Skiv2l2 UTSW 13 112891290 missense probably benign 0.00
R6038:Skiv2l2 UTSW 13 112891290 missense probably benign 0.00
R6348:Skiv2l2 UTSW 13 112910917 missense possibly damaging 0.88
R7276:Skiv2l2 UTSW 13 112914439 missense probably benign 0.00
R7397:Skiv2l2 UTSW 13 112921686 missense probably benign
R7792:Skiv2l2 UTSW 13 112872909 missense probably benign 0.02
R7863:Skiv2l2 UTSW 13 112908901 missense probably benign 0.00
R7946:Skiv2l2 UTSW 13 112908901 missense probably benign 0.00
R7948:Skiv2l2 UTSW 13 112921762 missense probably benign 0.02
R8035:Skiv2l2 UTSW 13 112898802 missense probably benign 0.09
Protein Function and Prediction

Skiv2l2 encodes a DEAD-box RNA helicase that is capable of both RNA binding and ATPase activities (1). It is proposed that Skiv2l2 can form mRNPs with mRNAs that are involved in pre-mRNA splicing, nucleocytoplasmic transport, translation, and RNA decay during spermigogenesis (1).  In zebrafish, a mutation in skiv2l2 causes defects in cell proliferation.  This study proposed that skiv2l2 regulates melanoblast proliferation during the early stages of melanocyte regeneration in the zebrafish (2).  In medaka, Oryzias latipes, ENU mutagenesis found that a splice site mutation in SKIV2L2 caused defects in thymic T-cell development, but not early hematopoiesis (3).

Expression/Localization

RT-PCR analysis determined that Skiv2l2 is expressed in the kidney, epididymis, heart, and testis of the mouse (1).  In situ hybridization determined that in the testis, Skiv2l2 is highly expressed in spermatocytes; the protein was localized in the nuclei of round spermatids (1).

References
Posted On2012-10-29
Science WriterAnne Murray