Incidental Mutation 'IGL02723:Skil'
ID 305056
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 # IGL02723
Quality Score
Status
Chromosome 3
Chromosomal Location 31149259-31176741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31171673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 599 (E599G)
Ref Sequence ENSEMBL: ENSMUSP00000112413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029194] [ENSMUST00000117728] [ENSMUST00000118204] [ENSMUST00000118470]
AlphaFold Q60665
Predicted Effect probably damaging
Transcript: ENSMUST00000029194
AA Change: E599G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029194
Gene: ENSMUSG00000027660
AA Change: E599G

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 damaging
Transcript: ENSMUST00000117728
AA Change: E473G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113054
Gene: ENSMUSG00000027660
AA Change: E473G

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 damaging
Transcript: ENSMUST00000118204
AA Change: E599G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112413
Gene: ENSMUSG00000027660
AA Change: E599G

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 damaging
Transcript: ENSMUST00000118470
AA Change: E553G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113256
Gene: ENSMUSG00000027660
AA Change: E553G

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Capn9 A T 8: 125,335,922 (GRCm39) probably benign Het
Cchcr1 A C 17: 35,841,699 (GRCm39) K761Q probably benign Het
Cfap20dc T C 14: 8,516,507 (GRCm38) N347S probably benign Het
Csk G T 9: 57,538,672 (GRCm39) probably benign Het
Cyp2j7 T C 4: 96,118,366 (GRCm39) K76E probably benign Het
Dpep1 G A 8: 123,920,888 (GRCm39) A23T possibly damaging Het
Dpp8 T A 9: 64,949,549 (GRCm39) M98K possibly damaging Het
Dspp C A 5: 104,323,041 (GRCm39) N61K probably benign Het
Eno2 T C 6: 124,738,626 (GRCm39) Y364C probably damaging Het
Gfra1 A G 19: 58,441,683 (GRCm39) S83P probably benign Het
Gramd1b T C 9: 40,218,127 (GRCm39) E563G probably damaging Het
Kcns2 G T 15: 34,838,961 (GRCm39) W108L probably damaging Het
Mroh4 T C 15: 74,480,086 (GRCm39) probably benign Het
Obscn A T 11: 59,015,446 (GRCm39) S1009T probably benign Het
Or2y11 A G 11: 49,443,506 (GRCm39) R311G probably benign Het
Or5b119 A G 19: 13,456,699 (GRCm39) Y288H probably damaging Het
Or7g32 T C 9: 19,388,805 (GRCm39) H244R probably damaging Het
Or8b41 A G 9: 38,054,707 (GRCm39) K92R probably benign Het
Plcb2 G A 2: 118,547,500 (GRCm39) probably benign Het
Rpl13a-ps1 T A 19: 50,019,111 (GRCm39) I22F possibly damaging Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Spata31 T C 13: 65,068,463 (GRCm39) S204P probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tenm3 A T 8: 48,729,938 (GRCm39) V1356E probably benign Het
Trpc3 T A 3: 36,704,377 (GRCm39) I527F probably benign Het
Vmn2r69 A G 7: 85,059,416 (GRCm39) W498R probably damaging Het
Vwde T A 6: 13,205,759 (GRCm39) I263L probably damaging Het
Vwf G T 6: 125,619,893 (GRCm39) V1524L possibly damaging Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G probably benign Het
Other mutations in Skil
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01940:Skil APN 3 31,165,793 (GRCm39) missense probably benign 0.01
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
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 2015-04-16