Incidental Mutation 'R2080:Tlk1'
| ID |
229398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlk1
|
| Ensembl Gene |
ENSMUSG00000041997 |
| Gene Name |
tousled-like kinase 1 |
| Synonyms |
4930545J15Rik |
| MMRRC Submission |
040085-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2080 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
70712407-70825728 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70738445 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 404
(K404N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038584]
|
| AlphaFold |
Q8C0V0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038584
AA Change: K404N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035961
Gene: ENSMUSG00000041997
AA Change: K404N
| 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 |
0.1828 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (55/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 87,971,933 (GRCm38) |
D183V |
probably damaging |
Het |
| Ambra1 |
T |
A |
2: 91,885,719 (GRCm38) |
D858E |
probably damaging |
Het |
| Amdhd2 |
T |
C |
17: 24,156,604 (GRCm38) |
T370A |
probably benign |
Het |
| Amy1 |
A |
G |
3: 113,558,094 (GRCm38) |
W449R |
probably benign |
Het |
| Aox3 |
A |
T |
1: 58,186,280 (GRCm38) |
I1179F |
probably benign |
Het |
| Atp10a |
C |
A |
7: 58,824,327 (GRCm38) |
Q1121K |
probably damaging |
Het |
| Btaf1 |
C |
T |
19: 36,951,148 (GRCm38) |
A123V |
probably benign |
Het |
| Car6 |
T |
C |
4: 150,198,141 (GRCm38) |
K16E |
probably benign |
Het |
| Cgnl1 |
C |
T |
9: 71,656,096 (GRCm38) |
D779N |
probably benign |
Het |
| Cyp2a4 |
G |
A |
7: 26,308,537 (GRCm38) |
R123Q |
possibly damaging |
Het |
| D430041D05Rik |
C |
T |
2: 104,156,816 (GRCm38) |
R1895Q |
probably damaging |
Het |
| D5Ertd579e |
T |
A |
5: 36,616,206 (GRCm38) |
T282S |
probably benign |
Het |
| Dsel |
T |
C |
1: 111,859,962 (GRCm38) |
T948A |
probably benign |
Het |
| Ednrb |
A |
T |
14: 103,843,100 (GRCm38) |
I126N |
probably damaging |
Het |
| Egln1 |
A |
G |
8: 124,948,306 (GRCm38) |
M250T |
probably benign |
Het |
| Epb41l3 |
A |
T |
17: 69,253,468 (GRCm38) |
I337L |
possibly damaging |
Het |
| Epg5 |
T |
C |
18: 77,948,745 (GRCm38) |
I219T |
probably benign |
Het |
| Gm13030 |
T |
C |
4: 138,873,419 (GRCm38) |
|
probably benign |
Het |
| Gm1527 |
T |
A |
3: 28,926,661 (GRCm38) |
C637S |
probably benign |
Het |
| H1f1 |
A |
G |
13: 23,763,949 (GRCm38) |
N78S |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,814,291 (GRCm38) |
I1168T |
possibly damaging |
Het |
| Ireb2 |
T |
C |
9: 54,896,552 (GRCm38) |
V509A |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,354,717 (GRCm38) |
D981G |
probably damaging |
Het |
| Ktn1 |
A |
G |
14: 47,725,960 (GRCm38) |
E1164G |
probably damaging |
Het |
| L3hypdh |
A |
T |
12: 72,079,527 (GRCm38) |
V213E |
probably damaging |
Het |
| Masp1 |
T |
G |
16: 23,491,959 (GRCm38) |
D241A |
probably damaging |
Het |
| Mfsd13b |
A |
G |
7: 120,991,824 (GRCm38) |
I1V |
probably null |
Het |
| Muc5b |
T |
C |
7: 141,869,754 (GRCm38) |
V4531A |
probably benign |
Het |
| Myh2 |
A |
T |
11: 67,174,941 (GRCm38) |
|
probably null |
Het |
| Naip5 |
A |
G |
13: 100,221,533 (GRCm38) |
L1065P |
probably damaging |
Het |
| Necab1 |
T |
C |
4: 15,140,219 (GRCm38) |
|
probably benign |
Het |
| Nemf |
A |
G |
12: 69,353,786 (GRCm38) |
|
probably benign |
Het |
| Nfil3 |
A |
T |
13: 52,968,033 (GRCm38) |
D278E |
possibly damaging |
Het |
| Nup98 |
T |
C |
7: 102,180,424 (GRCm38) |
N393S |
probably damaging |
Het |
| Ogdh |
T |
A |
11: 6,349,393 (GRCm38) |
M753K |
probably benign |
Het |
| Or13c3 |
T |
C |
4: 52,855,568 (GRCm38) |
Y315C |
probably benign |
Het |
| Or2b6 |
A |
T |
13: 21,639,436 (GRCm38) |
V29E |
probably damaging |
Het |
| Or4k47 |
C |
T |
2: 111,621,739 (GRCm38) |
V112M |
probably benign |
Het |
| Or51f5 |
T |
C |
7: 102,775,243 (GRCm38) |
F240L |
probably benign |
Het |
| Or8b42 |
T |
A |
9: 38,431,082 (GRCm38) |
S267T |
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,477,123 (GRCm38) |
K262E |
probably benign |
Het |
| Plce1 |
C |
T |
19: 38,727,013 (GRCm38) |
|
probably benign |
Het |
| Ppm1f |
T |
A |
16: 16,923,880 (GRCm38) |
M406K |
possibly damaging |
Het |
| Ptgs1 |
C |
T |
2: 36,242,847 (GRCm38) |
Q286* |
probably null |
Het |
| Scube2 |
T |
C |
7: 109,808,505 (GRCm38) |
T743A |
possibly damaging |
Het |
| Tipin |
T |
A |
9: 64,290,376 (GRCm38) |
L69* |
probably null |
Het |
| Tmem59 |
C |
A |
4: 107,178,774 (GRCm38) |
L16I |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,737,082 (GRCm38) |
E426G |
probably benign |
Het |
| Xdh |
A |
T |
17: 73,909,325 (GRCm38) |
S709T |
probably damaging |
Het |
| Yjefn3 |
T |
C |
8: 69,889,487 (GRCm38) |
N28D |
probably damaging |
Het |
| Zfp598 |
A |
C |
17: 24,679,667 (GRCm38) |
D480A |
probably damaging |
Het |
|
| Other mutations in Tlk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00673:Tlk1
|
APN |
2 |
70,745,516 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01087:Tlk1
|
APN |
2 |
70,752,316 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
IGL01514:Tlk1
|
APN |
2 |
70,752,266 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02976:Tlk1
|
APN |
2 |
70,721,591 (GRCm38) |
nonsense |
probably null |
|
|
IGL03024:Tlk1
|
APN |
2 |
70,746,036 (GRCm38) |
nonsense |
probably null |
|
|
Aku-aku
|
UTSW |
2 |
70,738,445 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Heyerdahl
|
UTSW |
2 |
70,738,426 (GRCm38) |
nonsense |
probably null |
|
|
K3955:Tlk1
|
UTSW |
2 |
70,721,701 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R0107:Tlk1
|
UTSW |
2 |
70,713,989 (GRCm38) |
makesense |
probably null |
|
|
R0226:Tlk1
|
UTSW |
2 |
70,714,169 (GRCm38) |
unclassified |
probably benign |
|
|
R0332:Tlk1
|
UTSW |
2 |
70,745,565 (GRCm38) |
splice site |
probably null |
|
|
R0601:Tlk1
|
UTSW |
2 |
70,714,158 (GRCm38) |
missense |
probably benign |
0.44 |
|
R1739:Tlk1
|
UTSW |
2 |
70,721,077 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2422:Tlk1
|
UTSW |
2 |
70,770,005 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3843:Tlk1
|
UTSW |
2 |
70,749,327 (GRCm38) |
missense |
probably benign |
0.05 |
|
R3970:Tlk1
|
UTSW |
2 |
70,716,652 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4191:Tlk1
|
UTSW |
2 |
70,725,547 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4867:Tlk1
|
UTSW |
2 |
70,721,571 (GRCm38) |
nonsense |
probably null |
|
|
R5022:Tlk1
|
UTSW |
2 |
70,742,065 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5275:Tlk1
|
UTSW |
2 |
70,752,205 (GRCm38) |
intron |
probably benign |
|
|
R5469:Tlk1
|
UTSW |
2 |
70,721,668 (GRCm38) |
missense |
probably benign |
0.15 |
|
R6531:Tlk1
|
UTSW |
2 |
70,742,083 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6592:Tlk1
|
UTSW |
2 |
70,714,153 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6797:Tlk1
|
UTSW |
2 |
70,738,426 (GRCm38) |
nonsense |
probably null |
|
|
R7030:Tlk1
|
UTSW |
2 |
70,721,928 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7705:Tlk1
|
UTSW |
2 |
70,786,672 (GRCm38) |
splice site |
probably null |
|
|
R7970:Tlk1
|
UTSW |
2 |
70,752,300 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R8284:Tlk1
|
UTSW |
2 |
70,714,021 (GRCm38) |
missense |
probably benign |
|
|
R8765:Tlk1
|
UTSW |
2 |
70,752,237 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9004:Tlk1
|
UTSW |
2 |
70,721,946 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9059:Tlk1
|
UTSW |
2 |
70,786,933 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R9114:Tlk1
|
UTSW |
2 |
70,742,158 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9408:Tlk1
|
UTSW |
2 |
70,786,875 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9464:Tlk1
|
UTSW |
2 |
70,713,997 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9622:Tlk1
|
UTSW |
2 |
70,786,937 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9768:Tlk1
|
UTSW |
2 |
70,770,056 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9776:Tlk1
|
UTSW |
2 |
70,725,564 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0028:Tlk1
|
UTSW |
2 |
70,746,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTGCATCACATCCAACTGG -3'
(R):5'- CCAAGCAGAAATGGTAAAATTGTGC -3'
Sequencing Primer
(F):5'- TCCAACTGGACCAACTATCTAGAG -3'
(R):5'- AGGATCATAAAGGGGTTTTTCGACC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation