Incidental Mutation 'IGL02478:Skil'
ID 295042
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 # IGL02478
Quality Score
Status
Chromosome 3
Chromosomal Location 31149259-31176741 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 31151968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 163 (C163*)
Ref Sequence ENSEMBL: ENSMUSP00000123522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029194] [ENSMUST00000117728] [ENSMUST00000118204] [ENSMUST00000118470] [ENSMUST00000123532]
AlphaFold Q60665
Predicted Effect probably null
Transcript: ENSMUST00000029194
AA Change: C163*
SMART Domains Protein: ENSMUSP00000029194
Gene: ENSMUSG00000027660
AA Change: C163*

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 null
Transcript: ENSMUST00000117728
AA Change: C83*
SMART Domains Protein: ENSMUSP00000113054
Gene: ENSMUSG00000027660
AA Change: C83*

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 null
Transcript: ENSMUST00000118204
AA Change: C163*
SMART Domains Protein: ENSMUSP00000112413
Gene: ENSMUSG00000027660
AA Change: C163*

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 null
Transcript: ENSMUST00000118470
AA Change: C163*
SMART Domains Protein: ENSMUSP00000113256
Gene: ENSMUSG00000027660
AA Change: C163*

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
Predicted Effect probably null
Transcript: ENSMUST00000123532
AA Change: C163*
SMART Domains Protein: ENSMUSP00000123522
Gene: ENSMUSG00000027660
AA Change: C163*

DomainStartEndE-ValueType
Pfam:Ski_Sno 121 187 6.9e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144756
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C A 5: 8,856,018 (GRCm39) A42E probably damaging Het
Agmo T A 12: 37,451,985 (GRCm39) F247L probably damaging Het
Arap1 C A 7: 101,049,332 (GRCm39) probably null Het
Arid1a T C 4: 133,408,585 (GRCm39) D1974G unknown Het
Asxl3 C T 18: 22,656,070 (GRCm39) A1360V possibly damaging Het
Celsr1 T A 15: 85,825,337 (GRCm39) T1599S possibly damaging Het
Chrdl2 T C 7: 99,670,190 (GRCm39) probably null Het
Csmd3 T C 15: 47,701,794 (GRCm39) probably benign Het
Dis3l C T 9: 64,222,055 (GRCm39) E452K probably benign Het
Dnajc2 A T 5: 21,981,788 (GRCm39) H45Q probably damaging Het
Eps8 G A 6: 137,499,840 (GRCm39) P213L probably benign Het
Erbb3 T A 10: 128,407,227 (GRCm39) R978* probably null Het
Exoc2 A T 13: 31,111,403 (GRCm39) C142S probably benign Het
Fam184b T C 5: 45,695,039 (GRCm39) E735G probably damaging Het
Fancm T C 12: 65,123,864 (GRCm39) V174A probably damaging Het
Fat4 T C 3: 38,942,364 (GRCm39) L419P probably damaging Het
Fsip2 G T 2: 82,814,736 (GRCm39) V3490L probably benign Het
Ftcd A T 10: 76,417,255 (GRCm39) R255* probably null Het
Galc T C 12: 98,179,391 (GRCm39) N506S possibly damaging Het
Gm20441 G T 10: 75,608,644 (GRCm39) A26E probably damaging Het
Gm21969 T G 4: 139,367,999 (GRCm39) probably null Het
Ifitm3 T A 7: 140,589,787 (GRCm39) M89L possibly damaging Het
Ift25 T A 4: 107,132,449 (GRCm39) S79T probably benign Het
Inmt T C 6: 55,150,355 (GRCm39) E94G probably damaging Het
Insrr G A 3: 87,716,719 (GRCm39) G649D probably benign Het
Ivd T C 2: 118,692,572 (GRCm39) L24P probably benign Het
Kcnc1 A G 7: 46,084,593 (GRCm39) N506D probably benign Het
Krt39 T A 11: 99,411,723 (GRCm39) D121V probably benign Het
Lcp1 A G 14: 75,461,536 (GRCm39) I510V probably benign Het
Mkx C T 18: 7,002,418 (GRCm39) V43M probably damaging Het
Mmp2 A G 8: 93,579,235 (GRCm39) N108S possibly damaging Het
Mob1b T C 5: 88,903,947 (GRCm39) probably benign Het
Morc3 A G 16: 93,661,844 (GRCm39) probably benign Het
Myh13 T G 11: 67,260,204 (GRCm39) S1881A probably benign Het
Nalcn T C 14: 123,558,717 (GRCm39) E843G probably benign Het
Ngef A G 1: 87,408,301 (GRCm39) probably benign Het
Or14c40 T A 7: 86,313,344 (GRCm39) I158N probably damaging Het
Osm A G 11: 4,189,507 (GRCm39) Y97C probably damaging Het
Pclo T A 5: 14,816,792 (GRCm39) L4556Q unknown Het
Pcyox1l T C 18: 61,830,780 (GRCm39) D364G probably benign Het
Plekha6 T A 1: 133,211,031 (GRCm39) V467E probably benign Het
Qrsl1 A T 10: 43,758,158 (GRCm39) S312T probably damaging Het
Ripk1 T A 13: 34,194,572 (GRCm39) L70Q probably damaging Het
Rnaseh1 A T 12: 28,705,662 (GRCm39) Y162F probably damaging Het
Ror2 T A 13: 53,275,703 (GRCm39) T195S probably damaging Het
Sh3bp2 T C 5: 34,709,006 (GRCm39) L33P probably damaging Het
Slc25a37 A T 14: 69,486,883 (GRCm39) N133K probably benign Het
Slitrk3 A C 3: 72,958,046 (GRCm39) V242G probably damaging Het
Sra1 A G 18: 36,801,845 (GRCm39) S82P probably benign Het
Synj2 A G 17: 6,088,199 (GRCm39) N1417D probably benign Het
Tas2r122 A G 6: 132,688,578 (GRCm39) V105A possibly damaging Het
Tasor2 T C 13: 3,624,661 (GRCm39) E1763G probably benign Het
Ttc21b T C 2: 66,018,624 (GRCm39) N1261S probably benign Het
Vmn2r69 A G 7: 85,055,889 (GRCm39) S750P probably damaging Het
Wdr95 A G 5: 149,519,786 (GRCm39) T568A probably benign Het
Zfp319 T A 8: 96,055,721 (GRCm39) I161F possibly damaging 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
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 2015-04-16