Incidental Mutation 'R8284:Tlk1'
| ID |
638358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlk1
|
| Ensembl Gene |
ENSMUSG00000041997 |
| Gene Name |
tousled-like kinase 1 |
| Synonyms |
4930545J15Rik |
| MMRRC Submission |
067707-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8284 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
70542751-70656072 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70544365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 757
(T757A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038584]
[ENSMUST00000133432]
|
| AlphaFold |
Q8C0V0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038584
AA Change: T757A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035961
Gene: ENSMUSG00000041997
AA Change: T757A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (54/54) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
T |
C |
10: 61,034,438 (GRCm39) |
Y1147C |
possibly damaging |
Het |
| Adgrf5 |
T |
A |
17: 43,766,161 (GRCm39) |
S1328T |
unknown |
Het |
| Aff4 |
A |
G |
11: 53,295,379 (GRCm39) |
K860E |
probably damaging |
Het |
| Aox1 |
A |
C |
1: 58,115,250 (GRCm39) |
H745P |
probably damaging |
Het |
| Bpifc |
T |
C |
10: 85,836,413 (GRCm39) |
T31A |
probably benign |
Het |
| C3 |
C |
A |
17: 57,530,938 (GRCm39) |
V388L |
probably benign |
Het |
| Celsr3 |
G |
T |
9: 108,723,612 (GRCm39) |
M2874I |
probably damaging |
Het |
| Cnga4 |
T |
A |
7: 105,057,239 (GRCm39) |
D550E |
probably benign |
Het |
| Dhx8 |
A |
G |
11: 101,648,455 (GRCm39) |
T918A |
probably damaging |
Het |
| Dnah14 |
A |
C |
1: 181,601,376 (GRCm39) |
E3670A |
probably benign |
Het |
| Fbxo31 |
T |
C |
8: 122,287,181 (GRCm39) |
I131V |
probably benign |
Het |
| Ftcd |
T |
C |
10: 76,413,893 (GRCm39) |
V99A |
probably benign |
Het |
| Gucy2e |
A |
G |
11: 69,123,177 (GRCm39) |
V471A |
probably benign |
Het |
| H60b |
T |
A |
10: 22,162,971 (GRCm39) |
L182Q |
probably benign |
Het |
| Hbp1 |
G |
A |
12: 31,987,625 (GRCm39) |
H188Y |
probably damaging |
Het |
| Itga4 |
C |
T |
2: 79,151,783 (GRCm39) |
T862I |
probably benign |
Het |
| Kcnmb4 |
T |
A |
10: 116,254,158 (GRCm39) |
K206N |
probably damaging |
Het |
| Klra4 |
A |
G |
6: 130,042,243 (GRCm39) |
F8S |
possibly damaging |
Het |
| Mrpl2 |
C |
A |
17: 46,958,435 (GRCm39) |
Y72* |
probably null |
Het |
| Nars2 |
C |
A |
7: 96,600,845 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,886,458 (GRCm39) |
S607P |
possibly damaging |
Het |
| Oas1d |
C |
T |
5: 121,057,221 (GRCm39) |
R276* |
probably null |
Het |
| Or12d13 |
C |
T |
17: 37,647,587 (GRCm39) |
V179I |
probably benign |
Het |
| Or1l8 |
T |
A |
2: 36,818,018 (GRCm39) |
Y36F |
probably damaging |
Het |
| Or2t1 |
T |
A |
14: 14,329,011 (GRCm38) |
L300Q |
possibly damaging |
Het |
| Or2y1b |
A |
G |
11: 49,209,002 (GRCm39) |
T210A |
probably benign |
Het |
| Pex13 |
A |
G |
11: 23,605,685 (GRCm39) |
S182P |
possibly damaging |
Het |
| Piwil4 |
G |
T |
9: 14,638,774 (GRCm39) |
N297K |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,129,789 (GRCm39) |
T1845A |
probably benign |
Het |
| Pml |
T |
C |
9: 58,136,643 (GRCm39) |
N579D |
probably benign |
Het |
| Ppl |
A |
G |
16: 4,950,201 (GRCm39) |
S3P |
probably damaging |
Het |
| Pramel16 |
G |
T |
4: 143,676,695 (GRCm39) |
D136E |
possibly damaging |
Het |
| Prss54 |
G |
A |
8: 96,285,994 (GRCm39) |
Q360* |
probably null |
Het |
| Ralgps2 |
A |
G |
1: 156,655,718 (GRCm39) |
I402T |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,318,909 (GRCm39) |
D1123E |
|
Het |
| Sdha |
A |
T |
13: 74,479,416 (GRCm39) |
|
probably null |
Het |
| Senp8 |
G |
A |
9: 59,644,814 (GRCm39) |
T114I |
|
Het |
| Setx |
C |
T |
2: 29,035,348 (GRCm39) |
T611I |
possibly damaging |
Het |
| Shc1 |
T |
G |
3: 89,329,215 (GRCm39) |
S20A |
possibly damaging |
Het |
| Slc15a1 |
T |
C |
14: 121,727,275 (GRCm39) |
I98V |
probably benign |
Het |
| Snrk |
A |
G |
9: 121,989,538 (GRCm39) |
E294G |
probably damaging |
Het |
| Sox18 |
G |
A |
2: 181,312,751 (GRCm39) |
P127S |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,007,387 (GRCm39) |
T206A |
probably benign |
Het |
| Tcfl5 |
A |
G |
2: 180,280,330 (GRCm39) |
S358P |
probably benign |
Het |
| Tecta |
T |
A |
9: 42,289,325 (GRCm39) |
L413F |
possibly damaging |
Het |
| Tmem232 |
T |
A |
17: 65,709,990 (GRCm39) |
I433F |
probably damaging |
Het |
| Top1mt |
T |
A |
15: 75,539,712 (GRCm39) |
K300* |
probably null |
Het |
| Trbv20 |
C |
T |
6: 41,165,782 (GRCm39) |
A69V |
probably damaging |
Het |
| Trim12a |
A |
T |
7: 103,955,282 (GRCm39) |
L147Q |
probably damaging |
Het |
| Tuba8 |
G |
A |
6: 121,199,736 (GRCm39) |
S140N |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,852,454 (GRCm39) |
N835K |
possibly damaging |
Het |
| Xrcc1 |
G |
A |
7: 24,271,703 (GRCm39) |
R562H |
probably damaging |
Het |
| Yipf7 |
C |
T |
5: 69,674,539 (GRCm39) |
G202D |
probably benign |
Het |
| Ythdc1 |
T |
G |
5: 86,964,325 (GRCm39) |
S45A |
probably benign |
Het |
| Zfp1002 |
T |
C |
2: 150,097,276 (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 |
|
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 |
|
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'- GACTCCTTGGAGAGCTTAGTTCAC -3'
(R):5'- AACTGTCCTTGCTGCTGTGG -3'
Sequencing Primer
(F):5'- GGAGAGCTTAGTTCACAAACACTTC -3'
(R):5'- AGAAGGTAGGAGATGATTGTGTTGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation