Incidental Mutation 'IGL02694:Tlk2'
ID |
303866 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02694
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
105069633-105174785 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105112061 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 138
(E138G)
|
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: E106G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000015107 Gene: ENSMUSG00000020694 AA Change: E106G
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: E138G
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000090198 Gene: ENSMUSG00000020694 AA Change: E138G
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: E106G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102552 Gene: ENSMUSG00000020694 AA Change: E106G
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: E138G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000102554 Gene: ENSMUSG00000020694 AA Change: E138G
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 |
silent
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
AA Change: E106G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118520 Gene: ENSMUSG00000020694 AA Change: E106G
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: E86G
|
SMART Domains |
Protein: ENSMUSP00000123179 Gene: ENSMUSG00000020694 AA Change: E86G
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 |
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acer3 |
A |
G |
7: 97,866,084 (GRCm39) |
I213T |
probably benign |
Het |
Alox8 |
T |
A |
11: 69,077,455 (GRCm39) |
T432S |
probably damaging |
Het |
Col4a3 |
T |
C |
1: 82,688,515 (GRCm39) |
|
probably benign |
Het |
Cyp2c54 |
A |
G |
19: 40,035,987 (GRCm39) |
Y308H |
possibly damaging |
Het |
Dscam |
A |
G |
16: 96,394,476 (GRCm39) |
V1942A |
probably benign |
Het |
F11 |
T |
C |
8: 45,705,196 (GRCm39) |
Y115C |
probably damaging |
Het |
Fam13b |
A |
G |
18: 34,584,259 (GRCm39) |
|
probably null |
Het |
Gykl1 |
A |
G |
18: 52,827,257 (GRCm39) |
H155R |
probably benign |
Het |
Lmo7 |
T |
A |
14: 102,124,606 (GRCm39) |
V355D |
probably damaging |
Het |
Lrtm2 |
T |
A |
6: 119,297,846 (GRCm39) |
D65V |
possibly damaging |
Het |
Ly6g6f |
C |
T |
17: 35,300,144 (GRCm39) |
V235M |
possibly damaging |
Het |
Mlxipl |
G |
A |
5: 135,152,872 (GRCm39) |
|
probably null |
Het |
Or11j4 |
A |
G |
14: 50,630,257 (GRCm39) |
I15V |
probably benign |
Het |
Or13a20 |
A |
G |
7: 140,232,093 (GRCm39) |
N67S |
probably damaging |
Het |
Or14a256 |
C |
T |
7: 86,265,518 (GRCm39) |
V112I |
probably benign |
Het |
Ppp2r1a |
A |
G |
17: 21,171,702 (GRCm39) |
|
probably benign |
Het |
Psmb2 |
A |
G |
4: 126,603,351 (GRCm39) |
N193S |
probably benign |
Het |
Rassf2 |
A |
T |
2: 131,851,641 (GRCm39) |
Y34N |
possibly damaging |
Het |
Ryr2 |
A |
G |
13: 11,620,075 (GRCm39) |
F3841L |
probably damaging |
Het |
Skint2 |
A |
G |
4: 112,473,792 (GRCm39) |
|
probably benign |
Het |
Spdl1 |
T |
C |
11: 34,704,448 (GRCm39) |
I462V |
probably benign |
Het |
Spopfm1 |
A |
G |
3: 94,173,459 (GRCm39) |
M152V |
probably benign |
Het |
Vmn1r89 |
A |
G |
7: 12,954,056 (GRCm39) |
E196G |
probably benign |
Het |
Zfp142 |
A |
G |
1: 74,609,307 (GRCm39) |
L1496P |
probably damaging |
Het |
Zfp689 |
T |
C |
7: 127,047,573 (GRCm39) |
D94G |
possibly damaging |
Het |
Zfp944 |
A |
G |
17: 22,558,899 (GRCm39) |
V116A |
probably benign |
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 |
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 |
|
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 |
|
Posted On |
2015-04-16 |