Incidental Mutation 'IGL01940:Skil'
ID 180848
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Skil
Ensembl Gene ENSMUSG00000027660
Gene Name SKI-like
Synonyms 9130011J04Rik, sno-dE3, SnoN, Skir, SnoN2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01940
Quality Score
Status
Chromosome 3
Chromosomal Location 31149259-31176741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31165793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 370 (M370K)
Ref Sequence ENSEMBL: ENSMUSP00000113256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029194] [ENSMUST00000117728] [ENSMUST00000118204] [ENSMUST00000118470]
AlphaFold Q60665
Predicted Effect probably benign
Transcript: ENSMUST00000029194
AA Change: M370K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000029194
Gene: ENSMUSG00000027660
AA Change: M370K

DomainStartEndE-ValueType
Pfam:Ski_Sno 121 233 2e-46 PFAM
c-SKI_SMAD_bind 258 353 6.01e-64 SMART
low complexity region 419 437 N/A INTRINSIC
coiled coil region 526 670 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117728
AA Change: M290K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113054
Gene: ENSMUSG00000027660
AA Change: M290K

DomainStartEndE-ValueType
Pfam:Ski_Sno 41 153 1.5e-45 PFAM
c-SKI_SMAD_bind 178 273 6.01e-64 SMART
low complexity region 347 357 N/A INTRINSIC
coiled coil region 400 544 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118204
AA Change: M370K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000112413
Gene: ENSMUSG00000027660
AA Change: M370K

DomainStartEndE-ValueType
Pfam:Ski_Sno 125 232 2.7e-46 PFAM
c-SKI_SMAD_bind 258 353 6.01e-64 SMART
low complexity region 419 437 N/A INTRINSIC
coiled coil region 526 670 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118470
AA Change: M370K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113256
Gene: ENSMUSG00000027660
AA Change: M370K

DomainStartEndE-ValueType
Pfam:Ski_Sno 121 233 2e-46 PFAM
c-SKI_SMAD_bind 258 353 6.01e-64 SMART
low complexity region 427 437 N/A INTRINSIC
SCOP:d1eq1a_ 508 625 5e-3 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of a small family of proteins that play a key role in the response of cells to extracellular growth signals. The encoded protein regulates members of the transforming growth factor beta signaling pathway. It is highly expressed in certain cancer cells, where it may have both tumor-suppressing and tumor-promoting roles. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Heterozygotes for a null allele develop lymphomas and show increased incidence of chemically-induced tumors while homozygotes die before implantation. Homozygotes for a different null allele are viable but show defective T cell activation and impaired mammary gland alveologenesis and lactogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,517,661 (GRCm39) probably benign Het
Ahnak A T 19: 8,983,921 (GRCm39) D1735V probably benign Het
Alkbh3 G A 2: 93,811,940 (GRCm39) T231I probably damaging Het
Ap4e1 T C 2: 126,885,431 (GRCm39) V344A probably damaging Het
Brip1 T A 11: 85,955,792 (GRCm39) D907V probably benign Het
Clca3a1 A T 3: 144,452,737 (GRCm39) M582K probably benign Het
Csf2 G T 11: 54,140,351 (GRCm39) P29H probably damaging Het
Cyp2d26 C T 15: 82,676,758 (GRCm39) R196H probably benign Het
Dagla A G 19: 10,229,535 (GRCm39) V575A probably benign Het
Dimt1 T A 13: 107,085,206 (GRCm39) probably benign Het
Ei24 A T 9: 36,693,687 (GRCm39) F288L probably damaging Het
Fam107a T C 14: 8,298,766 (GRCm38) H120R probably benign Het
Fancl G T 11: 26,409,752 (GRCm39) V203F probably damaging Het
Fgd6 T A 10: 93,925,512 (GRCm39) probably null Het
Flrt2 A G 12: 95,747,012 (GRCm39) Y450C probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Ift122 A G 6: 115,864,332 (GRCm39) probably benign Het
Kcnk13 A G 12: 100,027,683 (GRCm39) S253G probably benign Het
Lcp1 A T 14: 75,453,805 (GRCm39) N469I probably benign Het
Lrrc24 T C 15: 76,600,257 (GRCm39) Y294C probably damaging Het
Odam C A 5: 88,035,192 (GRCm39) S52Y possibly damaging Het
Or14j7 C T 17: 38,235,177 (GRCm39) T240I probably damaging Het
Or4a71 T A 2: 89,358,154 (GRCm39) N200I probably damaging Het
Or51i2 A G 7: 103,689,129 (GRCm39) N42S probably damaging Het
Pkd1 G T 17: 24,798,720 (GRCm39) R2676L possibly damaging Het
Plec T C 15: 76,064,529 (GRCm39) D1915G probably damaging Het
Ptbp2 A G 3: 119,519,764 (GRCm39) V9A possibly damaging Het
Ptk2b A G 14: 66,396,062 (GRCm39) I802T probably benign Het
Rabgap1 G T 2: 37,377,079 (GRCm39) A304S probably damaging Het
Sema3f T C 9: 107,560,896 (GRCm39) probably benign Het
Serpinb3a A T 1: 106,973,915 (GRCm39) V332E probably damaging Het
Slc25a1 T A 16: 17,744,304 (GRCm39) Y209F probably benign Het
Smim15 A G 13: 108,184,164 (GRCm39) K57E probably damaging Het
Taar3 T A 10: 23,825,855 (GRCm39) C134S probably damaging Het
Tns4 C T 11: 98,959,047 (GRCm39) S684N probably benign Het
Vmn2r58 A G 7: 41,487,071 (GRCm39) V608A probably benign Het
Zbtb26 A T 2: 37,325,987 (GRCm39) C350S possibly damaging Het
Other mutations in Skil
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02149:Skil APN 3 31,151,856 (GRCm39) missense possibly damaging 0.47
IGL02388:Skil APN 3 31,165,787 (GRCm39) nonsense probably null
IGL02478:Skil APN 3 31,151,968 (GRCm39) nonsense probably null
IGL02723:Skil APN 3 31,171,673 (GRCm39) missense probably damaging 1.00
PIT4243001:Skil UTSW 3 31,167,714 (GRCm39) missense probably damaging 0.98
PIT4466001:Skil UTSW 3 31,152,381 (GRCm39) missense probably damaging 1.00
PIT4472001:Skil UTSW 3 31,152,381 (GRCm39) missense probably damaging 1.00
R1809:Skil UTSW 3 31,171,655 (GRCm39) missense probably damaging 0.99
R3124:Skil UTSW 3 31,151,487 (GRCm39) missense probably benign 0.03
R3750:Skil UTSW 3 31,170,983 (GRCm39) missense probably benign 0.00
R4865:Skil UTSW 3 31,167,562 (GRCm39) missense probably damaging 1.00
R5213:Skil UTSW 3 31,171,600 (GRCm39) missense probably damaging 0.99
R5328:Skil UTSW 3 31,171,718 (GRCm39) missense probably benign 0.00
R5357:Skil UTSW 3 31,167,700 (GRCm39) missense probably benign
R5428:Skil UTSW 3 31,151,647 (GRCm39) missense probably benign
R6153:Skil UTSW 3 31,152,002 (GRCm39) missense probably damaging 1.00
R6613:Skil UTSW 3 31,152,029 (GRCm39) missense probably null 1.00
R7270:Skil UTSW 3 31,151,324 (GRCm39) intron probably benign
R7999:Skil UTSW 3 31,151,751 (GRCm39) missense possibly damaging 0.90
R8350:Skil UTSW 3 31,151,603 (GRCm39) missense probably benign 0.13
R8758:Skil UTSW 3 31,172,686 (GRCm39) missense probably damaging 1.00
R8802:Skil UTSW 3 31,167,592 (GRCm39) missense probably damaging 1.00
R8873:Skil UTSW 3 31,152,075 (GRCm39) missense probably damaging 1.00
R8961:Skil UTSW 3 31,167,729 (GRCm39) missense probably benign 0.02
R9526:Skil UTSW 3 31,171,639 (GRCm39) missense probably benign 0.09
R9712:Skil UTSW 3 31,171,009 (GRCm39) missense probably benign
R9755:Skil UTSW 3 31,151,544 (GRCm39) missense probably benign
Z1176:Skil UTSW 3 31,151,675 (GRCm39) missense possibly damaging 0.58
Posted On 2014-05-07