Incidental Mutation 'R6613:Skil'
ID 523749
Institutional Source Beutler Lab
Gene Symbol Skil
Ensembl Gene ENSMUSG00000027660
Gene Name SKI-like
Synonyms 9130011J04Rik, SnoN2, Skir, SnoN, sno-dE3
MMRRC Submission 044736-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6613 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 31095058-31122577 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31097880 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 184 (C184S)
Ref Sequence ENSEMBL: ENSMUSP00000123522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029194] [ENSMUST00000117728] [ENSMUST00000118204] [ENSMUST00000118470] [ENSMUST00000123532]
AlphaFold Q60665
Predicted Effect probably damaging
Transcript: ENSMUST00000029194
AA Change: C184S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029194
Gene: ENSMUSG00000027660
AA Change: C184S

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: C104S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113054
Gene: ENSMUSG00000027660
AA Change: C104S

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: C184S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112413
Gene: ENSMUSG00000027660
AA Change: C184S

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: C184S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113256
Gene: ENSMUSG00000027660
AA Change: C184S

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: C184S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123522
Gene: ENSMUSG00000027660
AA Change: C184S

DomainStartEndE-ValueType
Pfam:Ski_Sno 121 187 6.9e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144756
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (37/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano2 G A 6: 125,806,656 probably null Het
Arfgef1 A T 1: 10,194,396 I475N possibly damaging Het
Atg16l2 C T 7: 101,290,581 probably null Het
Atp2c2 T G 8: 119,756,021 L874R probably damaging Het
C2cd3 T A 7: 100,395,241 S343R possibly damaging Het
C4b A T 17: 34,733,565 S1167T probably damaging Het
Cacna1i G A 15: 80,321,259 G139S probably damaging Het
Chil6 A T 3: 106,389,875 F317I probably benign Het
Cngb1 A T 8: 95,266,010 V199E possibly damaging Het
Dcn A T 10: 97,495,040 T79S probably benign Het
Dcxr A G 11: 120,727,006 V48A probably benign Het
Dnajc13 A T 9: 104,213,877 D668E probably benign Het
Dnajc28 C A 16: 91,616,358 E357* probably null Het
Dock7 A G 4: 98,977,960 Y1198H probably damaging Het
Flot1 A G 17: 35,825,811 D167G probably damaging Het
Gpn1 T C 5: 31,497,352 probably null Het
Hyou1 A T 9: 44,382,498 I242F probably damaging Het
Igfbpl1 T C 4: 45,813,447 N256S probably benign Het
Kif20b C T 19: 34,936,984 Q390* probably null Het
Lhfpl2 T A 13: 94,174,495 F91Y probably damaging Het
Magi1 G A 6: 93,745,673 T408I probably damaging Het
Mttp T C 3: 138,109,078 N479D probably damaging Het
Myom3 T C 4: 135,812,459 V1339A possibly damaging Het
Nin T C 12: 70,030,954 K1733E probably damaging Het
Olfr173 C A 16: 58,797,531 C105F probably damaging Het
Pdzrn4 T C 15: 92,677,574 I287T probably damaging Het
Ptprt A G 2: 161,530,447 V1435A probably damaging Het
Rpap3 T C 15: 97,681,841 probably null Het
Scin A G 12: 40,079,715 Y360H probably benign Het
Sfxn5 A G 6: 85,269,908 probably null Het
Sgo1 A G 17: 53,679,057 S369P probably damaging Het
Srcin1 A G 11: 97,533,827 M607T possibly damaging Het
Ssc5d C T 7: 4,933,293 P513S possibly damaging Het
Trip10 A G 17: 57,255,197 probably null Het
Vmn2r114 T A 17: 23,310,246 Q294L possibly damaging Het
Zc3h12c A G 9: 52,116,112 V650A possibly damaging Het
Other mutations in Skil
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01940:Skil APN 3 31111644 missense probably benign 0.01
IGL02149:Skil APN 3 31097707 missense possibly damaging 0.47
IGL02388:Skil APN 3 31111638 nonsense probably null
IGL02478:Skil APN 3 31097819 nonsense probably null
IGL02723:Skil APN 3 31117524 missense probably damaging 1.00
PIT4243001:Skil UTSW 3 31113565 missense probably damaging 0.98
PIT4466001:Skil UTSW 3 31098232 missense probably damaging 1.00
PIT4472001:Skil UTSW 3 31098232 missense probably damaging 1.00
R1809:Skil UTSW 3 31117506 missense probably damaging 0.99
R3124:Skil UTSW 3 31097338 missense probably benign 0.03
R3750:Skil UTSW 3 31116834 missense probably benign 0.00
R4865:Skil UTSW 3 31113413 missense probably damaging 1.00
R5213:Skil UTSW 3 31117451 missense probably damaging 0.99
R5328:Skil UTSW 3 31117569 missense probably benign 0.00
R5357:Skil UTSW 3 31113551 missense probably benign
R5428:Skil UTSW 3 31097498 missense probably benign
R6153:Skil UTSW 3 31097853 missense probably damaging 1.00
R7270:Skil UTSW 3 31097175 intron probably benign
R7999:Skil UTSW 3 31097602 missense possibly damaging 0.90
R8350:Skil UTSW 3 31097454 missense probably benign 0.13
R8758:Skil UTSW 3 31118537 missense probably damaging 1.00
R8802:Skil UTSW 3 31113443 missense probably damaging 1.00
R8873:Skil UTSW 3 31097926 missense probably damaging 1.00
R8961:Skil UTSW 3 31113580 missense probably benign 0.02
R9526:Skil UTSW 3 31117490 missense probably benign 0.09
R9712:Skil UTSW 3 31116860 missense probably benign
R9755:Skil UTSW 3 31097395 missense probably benign
Z1176:Skil UTSW 3 31097526 missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- ATGTCACCGACTGTATTCCTGC -3'
(R):5'- CTGGGCCAGAGAGCTTTTAG -3'

Sequencing Primer
(F):5'- TCCTCAGGTTCTTCCCGG -3'
(R):5'- GCAGGAAGTATGCTACCATTTTGAG -3'
Posted On 2018-06-22