Incidental Mutation 'R4191:Tlk1'
| ID |
318292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlk1
|
| Ensembl Gene |
ENSMUSG00000041997 |
| Gene Name |
tousled-like kinase 1 |
| Synonyms |
4930545J15Rik |
| MMRRC Submission |
041022-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4191 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
70542751-70656072 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70555891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 423
(R423C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038584]
|
| AlphaFold |
Q8C0V0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038584
AA Change: R423C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000035961
Gene: ENSMUSG00000041997
AA Change: R423C
| 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: ENSMUST00000135128
|
| Meta Mutation Damage Score |
0.3964 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
95% (57/60) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,207,728 (GRCm39) |
T22A |
probably damaging |
Het |
| Ache |
A |
T |
5: 137,289,334 (GRCm39) |
I347F |
probably damaging |
Het |
| Adgrl1 |
C |
G |
8: 84,665,569 (GRCm39) |
R1464G |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,377,380 (GRCm39) |
D422G |
probably damaging |
Het |
| Cdx1 |
C |
T |
18: 61,153,510 (GRCm39) |
S176N |
possibly damaging |
Het |
| Cimip3 |
C |
T |
17: 47,747,562 (GRCm39) |
R61H |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,710,667 (GRCm39) |
D1536G |
probably damaging |
Het |
| Cyct |
G |
T |
2: 76,184,535 (GRCm39) |
P72Q |
probably damaging |
Het |
| Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
| Disp1 |
G |
T |
1: 182,870,737 (GRCm39) |
A561E |
probably damaging |
Het |
| Donson |
C |
A |
16: 91,485,480 (GRCm39) |
A41S |
possibly damaging |
Het |
| Gldc |
T |
C |
19: 30,123,058 (GRCm39) |
E279G |
probably damaging |
Het |
| Gpr160 |
A |
T |
3: 30,950,863 (GRCm39) |
I312F |
possibly damaging |
Het |
| H2-Eb2 |
G |
A |
17: 34,563,529 (GRCm39) |
|
probably benign |
Het |
| Igdcc4 |
A |
G |
9: 65,031,433 (GRCm39) |
Q457R |
probably benign |
Het |
| Irf2bp2 |
T |
C |
8: 127,320,084 (GRCm39) |
D31G |
probably damaging |
Het |
| Klrb1 |
T |
A |
6: 128,690,597 (GRCm39) |
K42* |
probably null |
Het |
| Lrrfip1 |
A |
T |
1: 91,038,121 (GRCm39) |
E446D |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Maml3 |
A |
G |
3: 51,597,390 (GRCm39) |
V1098A |
probably benign |
Het |
| Mrgpra4 |
T |
C |
7: 47,630,867 (GRCm39) |
S245G |
probably benign |
Het |
| Mybbp1a |
A |
G |
11: 72,342,113 (GRCm39) |
E1283G |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,068,226 (GRCm39) |
S285G |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,475,319 (GRCm39) |
D1876G |
probably benign |
Het |
| Nr4a2 |
T |
C |
2: 57,002,391 (GRCm39) |
S21G |
probably damaging |
Het |
| Or10d1c |
T |
A |
9: 38,894,313 (GRCm39) |
Q9L |
probably benign |
Het |
| Or2y14 |
T |
A |
11: 49,404,639 (GRCm39) |
M58K |
probably damaging |
Het |
| Or7g25 |
A |
G |
9: 19,160,383 (GRCm39) |
V104A |
probably benign |
Het |
| Or8c11 |
T |
A |
9: 38,289,648 (GRCm39) |
M157K |
probably damaging |
Het |
| Or8k18 |
C |
A |
2: 86,085,666 (GRCm39) |
V124L |
probably benign |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,675,056 (GRCm39) |
S476P |
probably damaging |
Het |
| Pex10 |
T |
C |
4: 155,152,362 (GRCm39) |
|
probably null |
Het |
| Pgf |
T |
C |
12: 85,218,561 (GRCm39) |
D63G |
probably benign |
Het |
| Piwil4 |
A |
G |
9: 14,626,296 (GRCm39) |
S465P |
probably damaging |
Het |
| Plcb1 |
A |
C |
2: 135,187,010 (GRCm39) |
H759P |
probably damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,254,260 (GRCm39) |
M432L |
probably benign |
Het |
| Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
| Rmnd1 |
A |
T |
10: 4,360,809 (GRCm39) |
|
probably benign |
Het |
| Ro60 |
T |
C |
1: 143,646,524 (GRCm39) |
I74V |
probably benign |
Het |
| Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,046,601 (GRCm39) |
C3510Y |
possibly damaging |
Het |
| Tanc1 |
A |
G |
2: 59,669,357 (GRCm39) |
I1274V |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,074,263 (GRCm39) |
E1874G |
probably damaging |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,009 (GRCm39) |
T298A |
probably damaging |
Het |
| Trp53rkb |
T |
C |
2: 166,637,395 (GRCm39) |
I117T |
probably damaging |
Het |
| Ttll9 |
A |
G |
2: 152,844,927 (GRCm39) |
T432A |
probably benign |
Het |
| Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
| Zfp112 |
A |
G |
7: 23,825,568 (GRCm39) |
D512G |
probably benign |
Het |
| Zfyve19 |
A |
G |
2: 119,041,312 (GRCm39) |
K76R |
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 |
|
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 |
|
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'- TAGCAGAGCGCACAGACATC -3'
(R):5'- TACAGAACAGTGTGGGCCTTC -3'
Sequencing Primer
(F):5'- CACAGACATCCAAGTTGGTACTGTG -3'
(R):5'- TCCTGTACAGTGCTCAGACAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation