Incidental Mutation 'IGL00673:Tlk1'
| ID |
14468 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tlk1
|
| Ensembl Gene |
ENSMUSG00000041997 |
| Gene Name |
tousled-like kinase 1 |
| Synonyms |
4930545J15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00673
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
70542751-70656072 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 70575860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 323
(Q323K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038584]
|
| AlphaFold |
Q8C0V0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038584
AA Change: Q323K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035961
Gene: ENSMUSG00000041997
AA Change: Q323K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
192 |
N/A |
INTRINSIC |
|
coiled coil region
|
248 |
277 |
N/A |
INTRINSIC |
|
coiled coil region
|
403 |
441 |
N/A |
INTRINSIC |
|
S_TKc
|
456 |
734 |
4.41e-75 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132542
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133734
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135128
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
T |
C |
9: 90,075,714 (GRCm39) |
S1191P |
possibly damaging |
Het |
| Alg2 |
C |
T |
4: 47,472,329 (GRCm39) |
D160N |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,451,442 (GRCm39) |
F487Y |
possibly damaging |
Het |
| Cdc27 |
A |
G |
11: 104,419,261 (GRCm39) |
Y224H |
probably damaging |
Het |
| Cdhr1 |
A |
G |
14: 36,807,485 (GRCm39) |
V385A |
probably benign |
Het |
| Cep128 |
G |
T |
12: 91,200,965 (GRCm39) |
H31Q |
probably benign |
Het |
| Ehd4 |
A |
G |
2: 119,932,701 (GRCm39) |
S242P |
probably damaging |
Het |
| Esco1 |
A |
G |
18: 10,582,078 (GRCm39) |
F647L |
probably damaging |
Het |
| Itgbl1 |
C |
T |
14: 124,083,844 (GRCm39) |
|
probably benign |
Het |
| Kcnj3 |
G |
T |
2: 55,485,284 (GRCm39) |
D461Y |
possibly damaging |
Het |
| Kcnq3 |
G |
A |
15: 65,867,120 (GRCm39) |
T841M |
probably damaging |
Het |
| Kcnt2 |
T |
G |
1: 140,523,789 (GRCm39) |
N1103K |
possibly damaging |
Het |
| Mib1 |
A |
G |
18: 10,798,490 (GRCm39) |
S784G |
probably benign |
Het |
| Miga2 |
T |
G |
2: 30,257,729 (GRCm39) |
M9R |
probably benign |
Het |
| Pals1 |
C |
A |
12: 78,876,573 (GRCm39) |
R506S |
possibly damaging |
Het |
| Prl2a1 |
T |
C |
13: 27,992,436 (GRCm39) |
S187P |
probably damaging |
Het |
| Psg28 |
A |
G |
7: 18,161,816 (GRCm39) |
V229A |
probably damaging |
Het |
| Ptdss2 |
G |
T |
7: 140,723,038 (GRCm39) |
C84F |
probably benign |
Het |
| Recql |
T |
A |
6: 142,322,647 (GRCm39) |
N85I |
probably null |
Het |
| Tex47 |
A |
T |
5: 7,355,211 (GRCm39) |
I131F |
probably damaging |
Het |
|
| Other mutations in Tlk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01087:Tlk1
|
APN |
2 |
70,582,660 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01514:Tlk1
|
APN |
2 |
70,582,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02976:Tlk1
|
APN |
2 |
70,551,935 (GRCm39) |
nonsense |
probably null |
|
|
IGL03024:Tlk1
|
APN |
2 |
70,576,380 (GRCm39) |
nonsense |
probably null |
|
|
Aku-aku
|
UTSW |
2 |
70,568,789 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Heyerdahl
|
UTSW |
2 |
70,568,770 (GRCm39) |
nonsense |
probably null |
|
|
K3955:Tlk1
|
UTSW |
2 |
70,552,045 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0107:Tlk1
|
UTSW |
2 |
70,544,333 (GRCm39) |
makesense |
probably null |
|
|
R0226:Tlk1
|
UTSW |
2 |
70,544,513 (GRCm39) |
unclassified |
probably benign |
|
|
R0332:Tlk1
|
UTSW |
2 |
70,575,909 (GRCm39) |
splice site |
probably null |
|
|
R0601:Tlk1
|
UTSW |
2 |
70,544,502 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1739:Tlk1
|
UTSW |
2 |
70,551,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2080:Tlk1
|
UTSW |
2 |
70,568,789 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2422:Tlk1
|
UTSW |
2 |
70,600,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3843:Tlk1
|
UTSW |
2 |
70,579,671 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3970:Tlk1
|
UTSW |
2 |
70,546,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4191:Tlk1
|
UTSW |
2 |
70,555,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4867:Tlk1
|
UTSW |
2 |
70,551,915 (GRCm39) |
nonsense |
probably null |
|
|
R5022:Tlk1
|
UTSW |
2 |
70,572,409 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5275:Tlk1
|
UTSW |
2 |
70,582,549 (GRCm39) |
intron |
probably benign |
|
|
R5469:Tlk1
|
UTSW |
2 |
70,552,012 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6531:Tlk1
|
UTSW |
2 |
70,572,427 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6592:Tlk1
|
UTSW |
2 |
70,544,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6797:Tlk1
|
UTSW |
2 |
70,568,770 (GRCm39) |
nonsense |
probably null |
|
|
R7030:Tlk1
|
UTSW |
2 |
70,552,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7705:Tlk1
|
UTSW |
2 |
70,617,016 (GRCm39) |
splice site |
probably null |
|
|
R7970:Tlk1
|
UTSW |
2 |
70,582,644 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8284:Tlk1
|
UTSW |
2 |
70,544,365 (GRCm39) |
missense |
probably benign |
|
|
R8765:Tlk1
|
UTSW |
2 |
70,582,581 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9004:Tlk1
|
UTSW |
2 |
70,552,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9059:Tlk1
|
UTSW |
2 |
70,617,277 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9114:Tlk1
|
UTSW |
2 |
70,572,502 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9408:Tlk1
|
UTSW |
2 |
70,617,219 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9464:Tlk1
|
UTSW |
2 |
70,544,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9622:Tlk1
|
UTSW |
2 |
70,617,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9768:Tlk1
|
UTSW |
2 |
70,600,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9776:Tlk1
|
UTSW |
2 |
70,555,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Tlk1
|
UTSW |
2 |
70,576,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation