Incidental Mutation 'R3843:Tlk1'
| ID |
277231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlk1
|
| Ensembl Gene |
ENSMUSG00000041997 |
| Gene Name |
tousled-like kinase 1 |
| Synonyms |
4930545J15Rik |
| MMRRC Submission |
040783-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3843 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
70542751-70656072 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70579671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 214
(T214S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038584]
|
| AlphaFold |
Q8C0V0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038584
AA Change: T214S
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000035961
Gene: ENSMUSG00000041997
AA Change: T214S
| 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: ENSMUST00000124629
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132542
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133734
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135128
|
| Meta Mutation Damage Score |
0.0686 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (35/35) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,092,495 (GRCm39) |
Y168* |
probably null |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Arid2 |
C |
T |
15: 96,249,721 (GRCm39) |
T145I |
possibly damaging |
Het |
| Ccdc8 |
T |
C |
7: 16,729,039 (GRCm39) |
V176A |
probably damaging |
Het |
| Cdhr1 |
G |
T |
14: 36,806,884 (GRCm39) |
F440L |
probably benign |
Het |
| Ckap2 |
A |
T |
8: 22,665,774 (GRCm39) |
N424K |
probably damaging |
Het |
| Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
| Dennd1b |
C |
A |
1: 138,981,092 (GRCm39) |
P102Q |
probably damaging |
Het |
| E2f1 |
A |
G |
2: 154,402,748 (GRCm39) |
S340P |
probably benign |
Het |
| Eef1akmt2 |
C |
T |
7: 132,433,305 (GRCm39) |
V134I |
probably damaging |
Het |
| Elp3 |
A |
T |
14: 65,802,932 (GRCm39) |
|
probably null |
Het |
| Grap |
T |
G |
11: 61,551,151 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
C |
13: 12,450,002 (GRCm39) |
Y1999H |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,397,936 (GRCm39) |
W288L |
possibly damaging |
Het |
| Hnf4g |
G |
A |
3: 3,716,362 (GRCm39) |
C262Y |
probably benign |
Het |
| Hrh4 |
A |
G |
18: 13,155,343 (GRCm39) |
Y294C |
possibly damaging |
Het |
| Igkv5-39 |
C |
A |
6: 69,877,526 (GRCm39) |
G77W |
probably damaging |
Het |
| Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,755,742 (GRCm39) |
L1952P |
probably damaging |
Het |
| Lgr4 |
C |
T |
2: 109,827,118 (GRCm39) |
|
probably benign |
Het |
| Nlrc3 |
G |
A |
16: 3,782,828 (GRCm39) |
R194W |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,941,112 (GRCm39) |
F547L |
probably damaging |
Het |
| Or5m3 |
A |
G |
2: 85,838,548 (GRCm39) |
I143V |
probably benign |
Het |
| Pdp1 |
T |
C |
4: 11,961,961 (GRCm39) |
K117E |
probably benign |
Het |
| Phtf2 |
G |
A |
5: 20,979,020 (GRCm39) |
A31V |
probably damaging |
Het |
| Pip4p2 |
T |
A |
4: 14,886,553 (GRCm39) |
Y42* |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,628,947 (GRCm39) |
C667S |
probably benign |
Het |
| Pnp2 |
T |
A |
14: 51,200,878 (GRCm39) |
L121Q |
probably null |
Het |
| Ppfia1 |
C |
T |
7: 144,058,707 (GRCm39) |
R698Q |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,104,587 (GRCm39) |
F275I |
probably benign |
Het |
| Slc50a1 |
A |
T |
3: 89,177,207 (GRCm39) |
I70N |
probably damaging |
Het |
| Sytl2 |
C |
G |
7: 90,009,367 (GRCm39) |
T123R |
possibly damaging |
Het |
| Tmco3 |
A |
G |
8: 13,346,114 (GRCm39) |
|
probably benign |
Het |
| Trim71 |
T |
C |
9: 114,344,914 (GRCm39) |
T335A |
probably benign |
Het |
| Zbtb47 |
T |
A |
9: 121,592,499 (GRCm39) |
V273E |
possibly damaging |
Het |
|
| Other mutations in Tlk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00673:Tlk1
|
APN |
2 |
70,575,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGCCCCTAAAGTAGATTTTCAATC -3'
(R):5'- AGCTGGTTTTACAAAGCGAAAG -3'
Sequencing Primer
(F):5'- TACTCACCCTGAGCAGAT -3'
(R):5'- AGTGTGAACATTTGCATATGAGC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation