Incidental Mutation 'R6592:Tlk1'
| ID |
524614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlk1
|
| Ensembl Gene |
ENSMUSG00000041997 |
| Gene Name |
tousled-like kinase 1 |
| Synonyms |
4930545J15Rik |
| MMRRC Submission |
044716-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6592 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
70542751-70656072 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70544497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 713
(R713C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038584]
[ENSMUST00000133432]
|
| AlphaFold |
Q8C0V0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038584
AA Change: R713C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035961
Gene: ENSMUSG00000041997
AA Change: R713C
| 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 |
probably benign
Transcript: ENSMUST00000133432
|
| SMART Domains |
Protein: ENSMUSP00000121549
Gene: ENSMUSG00000014959
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
5 |
75 |
8.14e-1 |
SMART |
|
internal_repeat_1
|
107 |
196 |
1.1e-15 |
PROSPERO |
|
low complexity region
|
236 |
252 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135128
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141707
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152738
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
94% (31/33) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
A |
G |
10: 106,859,579 (GRCm39) |
V340A |
possibly damaging |
Het |
| Btbd17 |
T |
C |
11: 114,682,302 (GRCm39) |
Y470C |
probably damaging |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cyp4v3 |
A |
T |
8: 45,760,018 (GRCm39) |
N511K |
probably benign |
Het |
| Efcab5 |
G |
T |
11: 77,004,436 (GRCm39) |
Q1097K |
possibly damaging |
Het |
| Epha7 |
T |
C |
4: 28,813,482 (GRCm39) |
|
probably null |
Het |
| Exoc6 |
A |
G |
19: 37,560,360 (GRCm39) |
T126A |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,389,015 (GRCm39) |
Q572R |
probably benign |
Het |
| Gm17430 |
C |
T |
18: 9,726,514 (GRCm39) |
V53I |
probably benign |
Het |
| Gpr149 |
T |
C |
3: 62,437,961 (GRCm39) |
D732G |
probably benign |
Het |
| Hdlbp |
A |
G |
1: 93,340,083 (GRCm39) |
|
probably null |
Het |
| Herc2 |
A |
G |
7: 55,857,438 (GRCm39) |
|
probably null |
Het |
| Htt |
C |
T |
5: 35,034,388 (GRCm39) |
T1953I |
possibly damaging |
Het |
| Lgmn |
C |
T |
12: 102,370,529 (GRCm39) |
V134I |
probably damaging |
Het |
| Lhfpl7 |
A |
G |
5: 113,382,329 (GRCm39) |
Y34C |
probably damaging |
Het |
| Lysmd1 |
A |
G |
3: 95,045,197 (GRCm39) |
S148G |
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,002,947 (GRCm39) |
D1054G |
probably damaging |
Het |
| Mcph1 |
A |
G |
8: 18,718,983 (GRCm39) |
T640A |
probably damaging |
Het |
| Nat10 |
T |
C |
2: 103,584,495 (GRCm39) |
E94G |
probably null |
Het |
| Or4a67 |
G |
A |
2: 88,598,471 (GRCm39) |
H63Y |
probably damaging |
Het |
| Or5v1 |
T |
A |
17: 37,809,988 (GRCm39) |
W149R |
probably damaging |
Het |
| Pgm3 |
A |
G |
9: 86,441,496 (GRCm39) |
V367A |
possibly damaging |
Het |
| Ppp1r1a |
A |
C |
15: 103,439,799 (GRCm39) |
D164E |
probably damaging |
Het |
| Proca1 |
G |
T |
11: 78,095,779 (GRCm39) |
S137I |
probably benign |
Het |
| Serinc5 |
T |
C |
13: 92,844,634 (GRCm39) |
F459L |
possibly damaging |
Het |
| Slc12a8 |
T |
C |
16: 33,437,626 (GRCm39) |
|
probably null |
Het |
| Slc51a |
T |
C |
16: 32,294,621 (GRCm39) |
D321G |
probably damaging |
Het |
| Tchhl1 |
T |
A |
3: 93,378,116 (GRCm39) |
D273E |
probably damaging |
Het |
| Tpr |
T |
C |
1: 150,287,656 (GRCm39) |
I465T |
possibly damaging |
Het |
| Usp1 |
A |
G |
4: 98,814,756 (GRCm39) |
I5M |
possibly damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,331,378 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- GTCATGCCAATCTTAGAGGAGTCAG -3'
(R):5'- TTGAGCCTATGATGTGCCCG -3'
Sequencing Primer
(F):5'- GAGGAGTCAGTAAGTAATTATGCTTG -3'
(R):5'- CCACTGGAGGGTTGCAATTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation