Incidental Mutation 'R6456:Tlk2'
| ID |
520206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tlk2
|
| Ensembl Gene |
ENSMUSG00000020694 |
| Gene Name |
tousled-like kinase 2 (Arabidopsis) |
| Synonyms |
PKUalpha, protein kinase U-alpha, 4933403M19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.748)
|
| Stock # |
R6456 (G1)
|
| Quality Score |
168.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
105069633-105174785 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105112099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 151
(S151P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015107]
[ENSMUST00000092537]
[ENSMUST00000106939]
[ENSMUST00000106941]
[ENSMUST00000126175]
[ENSMUST00000145048]
|
| AlphaFold |
O55047 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015107
AA Change: S119P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000015107
Gene: ENSMUSG00000020694
AA Change: S119P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
coiled coil region
|
202 |
237 |
N/A |
INTRINSIC |
|
coiled coil region
|
285 |
314 |
N/A |
INTRINSIC |
|
coiled coil region
|
355 |
393 |
N/A |
INTRINSIC |
|
S_TKc
|
408 |
687 |
1.63e-78 |
SMART |
|
low complexity region
|
696 |
717 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092537
AA Change: S151P
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000090198
Gene: ENSMUSG00000020694
AA Change: S151P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
145 |
N/A |
INTRINSIC |
|
coiled coil region
|
234 |
269 |
N/A |
INTRINSIC |
|
coiled coil region
|
317 |
346 |
N/A |
INTRINSIC |
|
coiled coil region
|
387 |
425 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
440 |
675 |
9.4e-52 |
PFAM |
|
Pfam:Pkinase_Tyr
|
441 |
669 |
3.5e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106939
AA Change: S119P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102552
Gene: ENSMUSG00000020694
AA Change: S119P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
coiled coil region
|
202 |
237 |
N/A |
INTRINSIC |
|
coiled coil region
|
285 |
314 |
N/A |
INTRINSIC |
|
coiled coil region
|
355 |
393 |
N/A |
INTRINSIC |
|
S_TKc
|
408 |
687 |
1.63e-78 |
SMART |
|
low complexity region
|
696 |
717 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106941
AA Change: S151P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102554
Gene: ENSMUSG00000020694
AA Change: S151P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
145 |
N/A |
INTRINSIC |
|
coiled coil region
|
234 |
269 |
N/A |
INTRINSIC |
|
coiled coil region
|
317 |
346 |
N/A |
INTRINSIC |
|
coiled coil region
|
387 |
425 |
N/A |
INTRINSIC |
|
S_TKc
|
440 |
719 |
1.63e-78 |
SMART |
|
low complexity region
|
728 |
749 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123050
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000126175
AA Change: V104A
|
| SMART Domains |
Protein: ENSMUSP00000120944
Gene: ENSMUSG00000020694
AA Change: V104A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145048
AA Change: S119P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000118520
Gene: ENSMUSG00000020694
AA Change: S119P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
coiled coil region
|
170 |
205 |
N/A |
INTRINSIC |
|
coiled coil region
|
253 |
282 |
N/A |
INTRINSIC |
|
coiled coil region
|
323 |
361 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
376 |
611 |
2.4e-51 |
PFAM |
|
Pfam:Pkinase_Tyr
|
377 |
605 |
8.5e-32 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152404
AA Change: S99P
|
| SMART Domains |
Protein: ENSMUSP00000123179
Gene: ENSMUSG00000020694
AA Change: S99P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
94 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear serine/threonine kinase that was first identified in Arabidopsis. The encoded protein is thought to function in the regulation of chromatin assembly in the S phase of the cell cycle by regulating the levels of a histone H3/H4 chaperone. This protein is associated with double-strand break repair of DNA damage caused by radiation. Pseudogenes of this gene are present on chromosomes 10 and 17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,240,474 (GRCm39) |
H779L |
possibly damaging |
Het |
| Abca7 |
T |
C |
10: 79,850,984 (GRCm39) |
V2097A |
probably null |
Het |
| Adam8 |
A |
G |
7: 139,566,701 (GRCm39) |
S524P |
possibly damaging |
Het |
| Anapc2 |
T |
C |
2: 25,170,207 (GRCm39) |
M575T |
probably damaging |
Het |
| Arhgap42 |
T |
A |
9: 9,005,823 (GRCm39) |
I736L |
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,736,284 (GRCm39) |
N789S |
probably benign |
Het |
| Bmi1 |
A |
G |
2: 18,687,058 (GRCm39) |
Y46C |
probably damaging |
Het |
| Brd10 |
G |
A |
19: 29,693,914 (GRCm39) |
P1860S |
possibly damaging |
Het |
| Ccdc125 |
T |
C |
13: 100,832,817 (GRCm39) |
S465P |
possibly damaging |
Het |
| Cd180 |
C |
T |
13: 102,839,344 (GRCm39) |
L76F |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,739,571 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
G |
A |
9: 105,822,676 (GRCm39) |
T227I |
unknown |
Het |
| Cyp4a29 |
G |
T |
4: 115,108,381 (GRCm39) |
M368I |
probably benign |
Het |
| Ddx28 |
T |
A |
8: 106,737,000 (GRCm39) |
I353F |
possibly damaging |
Het |
| Dhx40 |
G |
A |
11: 86,675,800 (GRCm39) |
T198M |
probably damaging |
Het |
| Dnai4 |
A |
C |
4: 102,906,746 (GRCm39) |
M689R |
probably benign |
Het |
| Dync2i2 |
T |
C |
2: 29,922,779 (GRCm39) |
S323G |
probably benign |
Het |
| Fat4 |
G |
A |
3: 39,038,128 (GRCm39) |
V3927M |
possibly damaging |
Het |
| Garin1b |
A |
G |
6: 29,334,045 (GRCm39) |
N299S |
probably benign |
Het |
| Gm10226 |
G |
T |
17: 21,910,932 (GRCm39) |
G56* |
probably null |
Het |
| H2-T15 |
A |
T |
17: 36,367,502 (GRCm39) |
Y279N |
probably damaging |
Het |
| Itsn2 |
T |
G |
12: 4,679,923 (GRCm39) |
|
probably benign |
Het |
| Lrrc8a |
A |
G |
2: 30,145,486 (GRCm39) |
D100G |
probably benign |
Het |
| Madd |
T |
C |
2: 91,008,536 (GRCm39) |
H122R |
probably benign |
Het |
| Mfsd4b3-ps |
C |
G |
10: 39,823,316 (GRCm39) |
V315L |
probably benign |
Het |
| Mki67 |
C |
G |
7: 135,301,204 (GRCm39) |
A1277P |
possibly damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,782,703 (GRCm39) |
N872K |
probably damaging |
Het |
| Npas1 |
T |
C |
7: 16,195,851 (GRCm39) |
T274A |
probably benign |
Het |
| Nrm |
A |
T |
17: 36,176,292 (GRCm39) |
|
probably null |
Het |
| Or10j2 |
A |
T |
1: 173,098,105 (GRCm39) |
D121V |
probably damaging |
Het |
| Pdilt |
T |
A |
7: 119,099,706 (GRCm39) |
L187F |
probably damaging |
Het |
| Pkdcc |
T |
C |
17: 83,527,548 (GRCm39) |
I242T |
probably damaging |
Het |
| Plch2 |
C |
A |
4: 155,077,459 (GRCm39) |
D535Y |
probably damaging |
Het |
| Pmpca |
T |
A |
2: 26,285,179 (GRCm39) |
I468N |
probably damaging |
Het |
| Prpf4 |
T |
C |
4: 62,332,869 (GRCm39) |
|
probably null |
Het |
| Rcc1 |
A |
G |
4: 132,061,427 (GRCm39) |
S361P |
probably benign |
Het |
| Rigi |
T |
A |
4: 40,213,838 (GRCm39) |
N607Y |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,350,792 (GRCm39) |
I3876V |
probably benign |
Het |
| Sall2 |
T |
A |
14: 52,551,050 (GRCm39) |
Q715L |
probably damaging |
Het |
| Sall2 |
G |
A |
14: 52,551,051 (GRCm39) |
Q713* |
probably null |
Het |
| Sin3a |
A |
G |
9: 57,020,985 (GRCm39) |
S1004G |
possibly damaging |
Het |
| Sltm |
C |
T |
9: 70,450,269 (GRCm39) |
T23M |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,724,250 (GRCm39) |
H310L |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,428,740 (GRCm39) |
E385G |
probably benign |
Het |
| Syne3 |
G |
T |
12: 104,906,963 (GRCm39) |
R775S |
possibly damaging |
Het |
| Szt2 |
A |
T |
4: 118,233,894 (GRCm39) |
|
probably benign |
Het |
| Trabd2b |
C |
T |
4: 114,443,757 (GRCm39) |
R305C |
probably damaging |
Het |
| Ttc21b |
T |
C |
2: 66,018,675 (GRCm39) |
Q1244R |
probably damaging |
Het |
| Vmn2r125 |
A |
G |
4: 156,703,357 (GRCm39) |
N245S |
probably benign |
Het |
| Wdr64 |
G |
A |
1: 175,613,175 (GRCm39) |
|
probably null |
Het |
| Wdr70 |
G |
A |
15: 7,915,118 (GRCm39) |
T550M |
possibly damaging |
Het |
|
| Other mutations in Tlk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00815:Tlk2
|
APN |
11 |
105,137,621 (GRCm39) |
nonsense |
probably null |
|
|
IGL00956:Tlk2
|
APN |
11 |
105,138,418 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01083:Tlk2
|
APN |
11 |
105,112,050 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02523:Tlk2
|
APN |
11 |
105,166,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02694:Tlk2
|
APN |
11 |
105,112,061 (GRCm39) |
missense |
probably benign |
0.19 |
|
H8786:Tlk2
|
UTSW |
11 |
105,145,805 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
PIT4378001:Tlk2
|
UTSW |
11 |
105,172,046 (GRCm39) |
missense |
unknown |
|
|
R0310:Tlk2
|
UTSW |
11 |
105,145,799 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1457:Tlk2
|
UTSW |
11 |
105,147,778 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1505:Tlk2
|
UTSW |
11 |
105,151,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Tlk2
|
UTSW |
11 |
105,112,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2069:Tlk2
|
UTSW |
11 |
105,131,266 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2305:Tlk2
|
UTSW |
11 |
105,132,417 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2351:Tlk2
|
UTSW |
11 |
105,100,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3724:Tlk2
|
UTSW |
11 |
105,138,390 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4607:Tlk2
|
UTSW |
11 |
105,145,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4641:Tlk2
|
UTSW |
11 |
105,166,809 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4738:Tlk2
|
UTSW |
11 |
105,147,708 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4803:Tlk2
|
UTSW |
11 |
105,171,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Tlk2
|
UTSW |
11 |
105,144,185 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5407:Tlk2
|
UTSW |
11 |
105,131,201 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5551:Tlk2
|
UTSW |
11 |
105,112,133 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6922:Tlk2
|
UTSW |
11 |
105,147,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7183:Tlk2
|
UTSW |
11 |
105,112,185 (GRCm39) |
splice site |
probably null |
|
|
R7265:Tlk2
|
UTSW |
11 |
105,075,070 (GRCm39) |
nonsense |
probably null |
|
|
R7760:Tlk2
|
UTSW |
11 |
105,169,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7797:Tlk2
|
UTSW |
11 |
105,101,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7823:Tlk2
|
UTSW |
11 |
105,144,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8786:Tlk2
|
UTSW |
11 |
105,172,059 (GRCm39) |
missense |
unknown |
|
|
R9287:Tlk2
|
UTSW |
11 |
105,147,722 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9614:Tlk2
|
UTSW |
11 |
105,138,328 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9659:Tlk2
|
UTSW |
11 |
105,131,263 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Tlk2
|
UTSW |
11 |
105,075,116 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTATTGAAACCTGTTGCATG -3'
(R):5'- TGAGTGAAGTACTGGTAATGCC -3'
Sequencing Primer
(F):5'- GAAACCTGTTGCATGTTGTCAGTAC -3'
(R):5'- TGTGCTGCTCTGACAGAAGACTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation