Incidental Mutation 'IGL02488:Scyl1'
ID 295504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scyl1
Ensembl Gene ENSMUSG00000024941
Gene Name SCY1-like 1 (S. cerevisiae)
Synonyms 2810011O19Rik, mfd, p105, mdf, Ntkl
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # IGL02488
Quality Score
Status
Chromosome 19
Chromosomal Location 5808450-5821461 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 5820341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 164 (Y164*)
Ref Sequence ENSEMBL: ENSMUSP00000025890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025890]
AlphaFold Q9EQC5
Predicted Effect probably null
Transcript: ENSMUST00000025890
AA Change: Y164*
SMART Domains Protein: ENSMUSP00000025890
Gene: ENSMUSG00000024941
AA Change: Y164*

DomainStartEndE-ValueType
low complexity region 18 28 N/A INTRINSIC
Pfam:Pkinase_Tyr 30 254 3.3e-11 PFAM
Pfam:Pkinase 31 252 2e-14 PFAM
SCOP:d1gw5a_ 350 536 1e-18 SMART
low complexity region 556 577 N/A INTRINSIC
low complexity region 608 620 N/A INTRINSIC
coiled coil region 759 795 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous mutation or a knock-out allele develop a motoneuron disease characterized by gait ataxia, reduced grip strength, tremors, progressive hindlimb paralysis, muscular atrophy, and motoneuron degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 25,282,022 (GRCm39) D417N probably damaging Het
Akr1d1 A T 6: 37,544,095 (GRCm39) E324D probably benign Het
Ankrd34a A G 3: 96,506,229 (GRCm39) I478V probably benign Het
C8b A G 4: 104,661,278 (GRCm39) H498R probably benign Het
Cct6a T G 5: 129,866,885 (GRCm39) probably benign Het
Enpp7 C A 11: 118,879,640 (GRCm39) T98N probably damaging Het
Fcna A T 2: 25,515,223 (GRCm39) probably null Het
Gtdc1 A G 2: 44,715,451 (GRCm39) Y31H probably benign Het
Gzme A T 14: 56,355,849 (GRCm39) N154K probably benign Het
Hectd4 T C 5: 121,430,150 (GRCm39) V849A probably benign Het
Hps1 C T 19: 42,746,227 (GRCm39) probably benign Het
Incenp A T 19: 9,870,771 (GRCm39) I286N unknown Het
Matn1 G T 4: 130,671,804 (GRCm39) V24F probably benign Het
Mcm3ap A G 10: 76,335,483 (GRCm39) T1302A probably damaging Het
Megf10 A G 18: 57,425,704 (GRCm39) Y1030C probably damaging Het
Mpdu1 T C 11: 69,549,435 (GRCm39) T87A probably damaging Het
Or1j18 T A 2: 36,624,362 (GRCm39) S10T probably benign Het
Or52h1 T A 7: 103,829,478 (GRCm39) I46F possibly damaging Het
Pde6h A G 6: 136,940,264 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,421,993 (GRCm39) I3088V probably benign Het
Plec G T 15: 76,063,359 (GRCm39) T2259K possibly damaging Het
Ptch2 C T 4: 116,967,593 (GRCm39) R754C probably damaging Het
Ptpn12 T C 5: 21,227,060 (GRCm39) T81A possibly damaging Het
Sars2 C T 7: 28,441,585 (GRCm39) R49* probably null Het
Smarcd1 T C 15: 99,609,082 (GRCm39) C419R possibly damaging Het
Syne2 C A 12: 76,012,512 (GRCm39) R2568S probably benign Het
Tap2 A G 17: 34,433,616 (GRCm39) probably benign Het
Thrb T A 14: 18,033,455 (GRCm38) I406K probably damaging Het
Tnn T A 1: 159,968,163 (GRCm39) I410F probably benign Het
Tns2 T C 15: 102,021,178 (GRCm39) S940P probably benign Het
Trav6-2 A G 14: 52,905,243 (GRCm39) K88R probably benign Het
Ttbk2 T C 2: 120,586,352 (GRCm39) M386V probably benign Het
Vldlr A G 19: 27,215,675 (GRCm39) E224G probably damaging Het
Vmn1r46 T A 6: 89,953,963 (GRCm39) C271S probably benign Het
Zfhx2 T C 14: 55,302,560 (GRCm39) E1808G possibly damaging Het
Zfp385a A G 15: 103,228,733 (GRCm39) I42T probably damaging Het
Other mutations in Scyl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02437:Scyl1 APN 19 5,816,224 (GRCm39) missense probably damaging 1.00
IGL02816:Scyl1 APN 19 5,820,410 (GRCm39) missense probably damaging 0.99
spartacus UTSW 19 5,810,854 (GRCm39) missense probably damaging 1.00
R1957:Scyl1 UTSW 19 5,810,132 (GRCm39) missense probably benign 0.00
R2267:Scyl1 UTSW 19 5,811,749 (GRCm39) missense possibly damaging 0.78
R4598:Scyl1 UTSW 19 5,820,481 (GRCm39) missense probably damaging 1.00
R5034:Scyl1 UTSW 19 5,810,022 (GRCm39) missense probably benign 0.01
R5203:Scyl1 UTSW 19 5,821,395 (GRCm39) start gained probably benign
R6159:Scyl1 UTSW 19 5,814,785 (GRCm39) missense probably benign 0.03
R6194:Scyl1 UTSW 19 5,820,334 (GRCm39) missense possibly damaging 0.96
R6360:Scyl1 UTSW 19 5,810,599 (GRCm39) missense probably damaging 1.00
R6625:Scyl1 UTSW 19 5,810,854 (GRCm39) missense probably damaging 1.00
R7214:Scyl1 UTSW 19 5,810,057 (GRCm39) missense probably benign
R8046:Scyl1 UTSW 19 5,810,620 (GRCm39) missense possibly damaging 0.70
R8068:Scyl1 UTSW 19 5,810,853 (GRCm39) missense probably damaging 1.00
R9377:Scyl1 UTSW 19 5,809,023 (GRCm39) missense probably benign 0.00
Z1177:Scyl1 UTSW 19 5,808,879 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16