Incidental Mutation 'IGL00919:Ski'
ID 27237
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ski
Ensembl Gene ENSMUSG00000029050
Gene Name ski sarcoma viral oncogene homolog (avian)
Synonyms 2310012I02Rik, 2610001A11Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00919
Quality Score
Status
Chromosome 4
Chromosomal Location 155238532-155306992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 155306799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 60 (V60E)
Ref Sequence ENSEMBL: ENSMUSP00000030917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030917] [ENSMUST00000084103]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000030917
AA Change: V60E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030917
Gene: ENSMUSG00000029050
AA Change: V60E

DomainStartEndE-ValueType
Pfam:Ski_Sno 84 191 3.2e-49 PFAM
c-SKI_SMAD_bind 217 312 2.5e-61 SMART
low complexity region 470 508 N/A INTRINSIC
low complexity region 518 534 N/A INTRINSIC
SCOP:d1eq1a_ 555 707 3e-16 SMART
low complexity region 709 714 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000084103
SMART Domains Protein: ENSMUSP00000081120
Gene: ENSMUSG00000029050

DomainStartEndE-ValueType
Pfam:Ski_Sno 29 140 8.3e-43 PFAM
c-SKI_SMAD_bind 165 260 2.5e-61 SMART
low complexity region 418 456 N/A INTRINSIC
low complexity region 466 482 N/A INTRINSIC
SCOP:d1eq1a_ 503 655 1e-14 SMART
low complexity region 657 662 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous null embryos die during late gestation and exhibit neural tube defects, craniofacial anomalies, and reduced skeletal muscle mass. Haploinsufficient mice have an increased susceptibility to tumorigenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef1 A G 1: 10,243,462 (GRCm39) V1029A probably damaging Het
Arhgap9 T C 10: 127,163,762 (GRCm39) probably benign Het
Ccdc63 T C 5: 122,262,982 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Coa7 G T 4: 108,195,505 (GRCm39) G145C possibly damaging Het
Ctps1 A G 4: 120,424,545 (GRCm39) V23A probably benign Het
Ehd4 T C 2: 119,927,535 (GRCm39) E333G possibly damaging Het
Espl1 T C 15: 102,207,064 (GRCm39) V176A probably benign Het
Fbxo41 A G 6: 85,455,552 (GRCm39) I544T probably damaging Het
Fut9 A G 4: 25,620,316 (GRCm39) V166A possibly damaging Het
Kirrel3 A G 9: 34,926,549 (GRCm39) probably null Het
Nell2 T A 15: 95,281,608 (GRCm39) D366V possibly damaging Het
Neurod4 A T 10: 130,106,683 (GRCm39) I197N probably damaging Het
Nlrp9c A T 7: 26,093,481 (GRCm39) Y61* probably null Het
Or4c121 T G 2: 89,023,848 (GRCm39) M177L probably benign Het
Pcdh1 T A 18: 38,335,865 (GRCm39) K118* probably null Het
Phf12 T A 11: 77,874,166 (GRCm39) I10N probably damaging Het
Ptprc A T 1: 138,041,380 (GRCm39) C250S probably damaging Het
Rtl8c A G X: 52,610,187 (GRCm39) T59A possibly damaging Het
Serpine1 A G 5: 137,092,376 (GRCm39) I377T probably benign Het
Shank2 A T 7: 143,965,008 (GRCm39) D865V probably damaging Het
St7l T A 3: 104,833,782 (GRCm39) L481H probably damaging Het
Tmpo A G 10: 90,998,662 (GRCm39) I375T probably damaging Het
Ubr5 T C 15: 38,041,086 (GRCm39) D266G probably damaging Het
Other mutations in Ski
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01316:Ski APN 4 155,306,143 (GRCm39) missense probably damaging 1.00
IGL02423:Ski APN 4 155,244,191 (GRCm39) missense probably damaging 0.99
IGL03378:Ski APN 4 155,245,329 (GRCm39) missense probably benign
R0518:Ski UTSW 4 155,243,743 (GRCm39) critical splice donor site probably null
R1611:Ski UTSW 4 155,244,395 (GRCm39) missense probably damaging 0.99
R1865:Ski UTSW 4 155,306,698 (GRCm39) missense possibly damaging 0.86
R1986:Ski UTSW 4 155,306,148 (GRCm39) missense probably damaging 1.00
R2040:Ski UTSW 4 155,306,029 (GRCm39) missense probably damaging 1.00
R2419:Ski UTSW 4 155,245,350 (GRCm39) missense probably benign
R5113:Ski UTSW 4 155,243,849 (GRCm39) missense probably benign 0.13
R6236:Ski UTSW 4 155,244,001 (GRCm39) missense probably benign 0.37
R6783:Ski UTSW 4 155,245,289 (GRCm39) critical splice donor site probably null
R8515:Ski UTSW 4 155,245,083 (GRCm39) missense possibly damaging 0.92
R8708:Ski UTSW 4 155,245,119 (GRCm39) missense probably damaging 0.98
R8836:Ski UTSW 4 155,245,047 (GRCm39) missense probably benign 0.31
R8886:Ski UTSW 4 155,244,016 (GRCm39) missense probably null 0.93
R8976:Ski UTSW 4 155,242,411 (GRCm39) missense probably damaging 0.99
R9005:Ski UTSW 4 155,306,317 (GRCm39) missense probably damaging 0.98
R9762:Ski UTSW 4 155,244,344 (GRCm39) missense probably damaging 0.99
Posted On 2013-04-17