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)
|
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*
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |