Incidental Mutation 'PIT4243001:Skil'
ID 554446
Institutional Source Beutler Lab
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 # PIT4243001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 31149259-31176741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31167714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 449 (S449P)
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: S449P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029194
Gene: ENSMUSG00000027660
AA Change: S449P

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
SMART Domains Protein: ENSMUSP00000113054
Gene: ENSMUSG00000027660

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: S449P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112413
Gene: ENSMUSG00000027660
AA Change: S449P

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
SMART Domains Protein: ENSMUSP00000113256
Gene: ENSMUSG00000027660

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
  • 1x: 92.7%
  • 3x: 90.5%
  • 10x: 85.2%
  • 20x: 74.3%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 88,119,999 (GRCm39) E252V possibly damaging Het
Abhd13 T C 8: 10,037,967 (GRCm39) F188S possibly damaging Het
Abtb1 A G 6: 88,815,708 (GRCm39) V225A probably benign Het
Accs A G 2: 93,671,679 (GRCm39) M237T probably benign Het
Adcy9 A G 16: 4,236,271 (GRCm39) I380T probably damaging Het
Add3 T C 19: 53,225,121 (GRCm39) S414P probably benign Het
Ak3 C T 19: 29,015,271 (GRCm39) probably null Het
Atg14 T C 14: 47,792,031 (GRCm39) E132G possibly damaging Het
Bcl2l11 A G 2: 127,989,026 (GRCm39) E135G probably benign Het
Brwd1 G A 16: 95,803,871 (GRCm39) Q2100* probably null Het
Card11 A C 5: 140,894,359 (GRCm39) V90G possibly damaging Het
Celsr3 T C 9: 108,709,507 (GRCm39) V1451A probably benign Het
Clip4 T C 17: 72,113,723 (GRCm39) I291T probably damaging Het
Clk1 C T 1: 58,458,836 (GRCm39) D179N probably damaging Het
Cyp11b2 A G 15: 74,723,302 (GRCm39) L454P probably damaging Het
Cyp2a12 C A 7: 26,734,198 (GRCm39) S377Y probably benign Het
Ep400 A G 5: 110,883,446 (GRCm39) S663P unknown Het
Erich6 G A 3: 58,537,300 (GRCm39) T238I possibly damaging Het
Herc1 T A 9: 66,279,489 (GRCm39) H132Q probably benign Het
Hk2 A G 6: 82,707,858 (GRCm39) C704R probably damaging Het
Ift74 A T 4: 94,575,141 (GRCm39) R531W possibly damaging Het
Ism2 T C 12: 87,333,832 (GRCm39) E71G probably benign Het
Lipe A C 7: 25,094,971 (GRCm39) S22A probably benign Het
Myl10 A G 5: 136,723,147 (GRCm39) D32G probably benign Het
Nomo1 A G 7: 45,693,705 (GRCm39) H179R probably damaging Het
Or1ad6 T C 11: 50,860,379 (GRCm39) F178S probably damaging Het
Or2n1b T C 17: 38,460,394 (GRCm39) F305S probably benign Het
Pdpn T A 4: 142,997,108 (GRCm39) T129S probably damaging Het
Pold1 C T 7: 44,191,582 (GRCm39) V135I possibly damaging Het
Rasgrp3 T A 17: 75,807,134 (GRCm39) N199K probably damaging Het
Spag16 T C 1: 69,892,540 (GRCm39) L107P probably damaging Het
Tbccd1 A G 16: 22,641,087 (GRCm39) M430T probably damaging Het
Tnfaip3 G A 10: 18,887,322 (GRCm39) L68F probably damaging Het
Trrap G A 5: 144,733,781 (GRCm39) R878H probably benign Het
Vasn T C 16: 4,467,480 (GRCm39) S476P probably damaging Het
Vmn2r110 T A 17: 20,802,379 (GRCm39) M499L probably benign Het
Wwp1 T C 4: 19,638,631 (GRCm39) T571A probably damaging Het
Zfp608 C A 18: 55,031,096 (GRCm39) G948V probably damaging Het
Zswim5 A G 4: 116,841,975 (GRCm39) I852V 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
IGL02723:Skil APN 3 31,171,673 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- AGGTCAGAACGACGTCAAGTC -3'
(R):5'- AAAAGCTGTGGTTCTATAGGGG -3'

Sequencing Primer
(F):5'- GACGTCAAGTCTCAATTCAAATTTC -3'
(R):5'- TGGTTCTATAGGGGAAATTGCC -3'
Posted On 2019-06-07