Incidental Mutation 'R7760:Tlk2'
ID |
597809 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tlk2
|
Ensembl Gene |
ENSMUSG00000020694 |
Gene Name |
tousled-like kinase 2 (Arabidopsis) |
Synonyms |
PKUalpha, protein kinase U-alpha, 4933403M19Rik |
MMRRC Submission |
045816-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.748)
|
Stock # |
R7760 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
105069633-105174785 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105169993 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 674
(I674T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102554
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015107]
[ENSMUST00000092537]
[ENSMUST00000106939]
[ENSMUST00000106941]
[ENSMUST00000126175]
[ENSMUST00000145048]
|
AlphaFold |
O55047 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000015107
AA Change: I642T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000015107 Gene: ENSMUSG00000020694 AA Change: I642T
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
|
SMART Domains |
Protein: ENSMUSP00000090198 Gene: ENSMUSG00000020694
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 damaging
Transcript: ENSMUST00000106939
AA Change: I642T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102552 Gene: ENSMUSG00000020694 AA Change: I642T
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 damaging
Transcript: ENSMUST00000106941
AA Change: I674T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102554 Gene: ENSMUSG00000020694 AA Change: I674T
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 |
probably benign
Transcript: ENSMUST00000126175
|
SMART Domains |
Protein: ENSMUSP00000120944 Gene: ENSMUSG00000020694
Domain | Start | End | E-Value | Type |
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145048
|
SMART Domains |
Protein: ENSMUSP00000118520 Gene: ENSMUSG00000020694
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (55/55) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa11 |
C |
T |
14: 25,873,251 (GRCm39) |
Q162* |
probably null |
Het |
Arg1 |
T |
G |
10: 24,803,361 (GRCm39) |
|
probably benign |
Het |
Arl6 |
T |
C |
16: 59,439,169 (GRCm39) |
D175G |
probably damaging |
Het |
Capg |
A |
G |
6: 72,534,769 (GRCm39) |
R199G |
probably damaging |
Het |
Ceacam1 |
T |
A |
7: 25,171,450 (GRCm39) |
E338V |
probably damaging |
Het |
Clec4d |
A |
G |
6: 123,247,300 (GRCm39) |
N148D |
probably benign |
Het |
Ctr9 |
T |
G |
7: 110,645,808 (GRCm39) |
I653R |
probably damaging |
Het |
Dmwd |
C |
T |
7: 18,814,660 (GRCm39) |
L437F |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,240,413 (GRCm39) |
L1510Q |
probably damaging |
Het |
Efcab5 |
T |
A |
11: 77,042,752 (GRCm39) |
E136D |
probably benign |
Het |
Elfn2 |
C |
T |
15: 78,558,041 (GRCm39) |
A169T |
probably benign |
Het |
Elp1 |
A |
G |
4: 56,790,892 (GRCm39) |
V287A |
probably benign |
Het |
Esrp2 |
T |
A |
8: 106,860,102 (GRCm39) |
E326D |
probably benign |
Het |
Fbrs |
T |
C |
7: 127,088,572 (GRCm39) |
V718A |
probably damaging |
Het |
Fbxl21 |
T |
C |
13: 56,674,747 (GRCm39) |
S33P |
probably benign |
Het |
Fbxl21 |
C |
T |
13: 56,684,816 (GRCm39) |
R307C |
probably benign |
Het |
Gatad2b |
C |
T |
3: 90,261,776 (GRCm39) |
R461W |
probably damaging |
Het |
Gm19410 |
T |
A |
8: 36,269,491 (GRCm39) |
C1109S |
probably damaging |
Het |
Gm6882 |
T |
A |
7: 21,161,409 (GRCm39) |
D153V |
probably damaging |
Het |
Golga3 |
A |
G |
5: 110,353,716 (GRCm39) |
E918G |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,773,417 (GRCm39) |
N219S |
probably benign |
Het |
Grpel1 |
G |
T |
5: 36,627,986 (GRCm39) |
R89L |
probably damaging |
Het |
Ighv5-12 |
T |
A |
12: 113,665,795 (GRCm39) |
Q101L |
probably benign |
Het |
Ldb3 |
T |
A |
14: 34,264,460 (GRCm39) |
N590I |
probably damaging |
Het |
Man2c1 |
T |
C |
9: 57,046,647 (GRCm39) |
V636A |
probably benign |
Het |
Mblac2 |
G |
T |
13: 81,859,996 (GRCm39) |
V117L |
probably benign |
Het |
Muc6 |
T |
A |
7: 141,237,322 (GRCm39) |
|
probably null |
Het |
Nfatc3 |
A |
G |
8: 106,834,973 (GRCm39) |
E773G |
possibly damaging |
Het |
Ngef |
T |
C |
1: 87,468,495 (GRCm39) |
D88G |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,388,186 (GRCm39) |
E478G |
probably damaging |
Het |
Or2t6 |
T |
C |
14: 14,175,905 (GRCm38) |
Y59C |
probably damaging |
Het |
Pbx4 |
C |
A |
8: 70,285,445 (GRCm39) |
D29E |
probably benign |
Het |
Pcdhgb5 |
A |
G |
18: 37,864,690 (GRCm39) |
I162V |
not run |
Het |
Pdcd11 |
G |
A |
19: 47,101,637 (GRCm39) |
V941M |
possibly damaging |
Het |
Pigr |
A |
T |
1: 130,774,368 (GRCm39) |
R449S |
possibly damaging |
Het |
Plcb2 |
T |
C |
2: 118,541,869 (GRCm39) |
T914A |
probably benign |
Het |
Ppp5c |
A |
G |
7: 16,740,274 (GRCm39) |
S387P |
probably damaging |
Het |
Rnf7l |
T |
C |
10: 63,257,316 (GRCm39) |
K68R |
probably damaging |
Het |
Rtkn2 |
T |
G |
10: 67,841,439 (GRCm39) |
S196A |
probably damaging |
Het |
Sec31a |
A |
G |
5: 100,540,487 (GRCm39) |
F400L |
probably damaging |
Het |
Senp7 |
A |
T |
16: 55,959,442 (GRCm39) |
M251L |
probably benign |
Het |
Slc6a5 |
T |
C |
7: 49,596,365 (GRCm39) |
F612L |
probably benign |
Het |
Slc7a9 |
T |
C |
7: 35,156,500 (GRCm39) |
I314T |
possibly damaging |
Het |
Smc5 |
A |
C |
19: 23,213,254 (GRCm39) |
S553A |
probably benign |
Het |
Spaca3 |
T |
A |
11: 80,755,389 (GRCm39) |
V133D |
probably damaging |
Het |
Taco1 |
T |
A |
11: 105,963,938 (GRCm39) |
D232E |
possibly damaging |
Het |
Tarbp1 |
C |
T |
8: 127,179,546 (GRCm39) |
R664H |
not run |
Het |
Tnxb |
A |
T |
17: 34,931,911 (GRCm39) |
E2148V |
probably damaging |
Het |
Tom1l2 |
T |
C |
11: 60,165,791 (GRCm39) |
S59G |
probably benign |
Het |
Traj46 |
A |
T |
14: 54,409,813 (GRCm39) |
H7L |
|
Het |
Traj46 |
T |
G |
14: 54,409,814 (GRCm39) |
H7Q |
|
Het |
Trav6-4 |
T |
A |
14: 53,692,103 (GRCm39) |
L70Q |
possibly damaging |
Het |
Trmt1l |
C |
T |
1: 151,318,425 (GRCm39) |
T245I |
possibly damaging |
Het |
Wac |
T |
A |
18: 7,921,913 (GRCm39) |
C601S |
probably benign |
Het |
Wnt3 |
T |
A |
11: 103,702,266 (GRCm39) |
H145Q |
probably benign |
Het |
Zfp948 |
T |
C |
17: 21,808,628 (GRCm39) |
C607R |
probably 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 |
R6456:Tlk2
|
UTSW |
11 |
105,112,099 (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 |
|
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'- AGAGACAGCGGGCTTCTTTC -3'
(R):5'- GAACACTAATTTGTCCCATCCTG -3'
Sequencing Primer
(F):5'- AGAGAGGGTTTCTACTTCTCTGTCC -3'
(R):5'- CATCCTGCTGCTTAATAATGGC -3'
|
Posted On |
2019-11-26 |