Incidental Mutation 'IGL02523:Tlk2'
| ID |
296961 |
| 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 # |
IGL02523
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
105069633-105174785 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105166773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 593
(K593R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015107]
[ENSMUST00000092537]
[ENSMUST00000106939]
[ENSMUST00000106941]
[ENSMUST00000126175]
[ENSMUST00000145048]
|
| AlphaFold |
O55047 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015107
AA Change: K625R
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000015107
Gene: ENSMUSG00000020694
AA Change: K625R
| 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 |
possibly damaging
Transcript: ENSMUST00000092537
AA Change: K657R
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090198
Gene: ENSMUSG00000020694
AA Change: K657R
| 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 |
possibly damaging
Transcript: ENSMUST00000106939
AA Change: K625R
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102552
Gene: ENSMUSG00000020694
AA Change: K625R
| 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: K657R
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000102554
Gene: ENSMUSG00000020694
AA Change: K657R
| 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 damaging
Transcript: ENSMUST00000145048
AA Change: K593R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118520
Gene: ENSMUSG00000020694
AA Change: K593R
| 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 |
noncoding transcript
Transcript: ENSMUST00000146910
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asah1 |
T |
C |
8: 41,804,984 (GRCm39) |
D109G |
probably benign |
Het |
| Ces2c |
C |
A |
8: 105,574,746 (GRCm39) |
P68T |
probably damaging |
Het |
| Csl |
G |
A |
10: 99,594,675 (GRCm39) |
T130I |
probably benign |
Het |
| Cyp2g1 |
C |
T |
7: 26,518,612 (GRCm39) |
R376W |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,604,996 (GRCm39) |
L1029P |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,692,490 (GRCm39) |
|
probably benign |
Het |
| Eya2 |
C |
T |
2: 165,596,356 (GRCm39) |
|
probably benign |
Het |
| Fars2 |
G |
T |
13: 36,388,676 (GRCm39) |
G55V |
probably damaging |
Het |
| Fcgbp |
C |
A |
7: 27,804,157 (GRCm39) |
A1755E |
possibly damaging |
Het |
| Ggt7 |
T |
A |
2: 155,356,623 (GRCm39) |
E32V |
probably damaging |
Het |
| Heg1 |
C |
A |
16: 33,558,992 (GRCm39) |
T1071K |
probably damaging |
Het |
| Hpca |
A |
G |
4: 129,012,368 (GRCm39) |
F56S |
probably damaging |
Het |
| Hyal4 |
T |
A |
6: 24,765,968 (GRCm39) |
Y441N |
probably damaging |
Het |
| Igsf8 |
T |
A |
1: 172,146,980 (GRCm39) |
|
probably benign |
Het |
| Ints13 |
A |
G |
6: 146,459,109 (GRCm39) |
S301P |
probably benign |
Het |
| Krt33a |
G |
A |
11: 99,902,518 (GRCm39) |
T374I |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,605,157 (GRCm39) |
D972G |
probably damaging |
Het |
| Npc1 |
T |
C |
18: 12,334,629 (GRCm39) |
T708A |
probably benign |
Het |
| Or10ag52 |
A |
T |
2: 87,043,664 (GRCm39) |
N143Y |
probably benign |
Het |
| Or13p10 |
A |
T |
4: 118,523,238 (GRCm39) |
N175Y |
probably benign |
Het |
| Or1l8 |
T |
C |
2: 36,817,967 (GRCm39) |
D53G |
probably damaging |
Het |
| Or6d14 |
A |
T |
6: 116,534,054 (GRCm39) |
I223L |
probably benign |
Het |
| P2rx2 |
A |
G |
5: 110,489,908 (GRCm39) |
S87P |
probably damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,699,799 (GRCm39) |
L62H |
probably damaging |
Het |
| Plekhj1 |
A |
T |
10: 80,633,683 (GRCm39) |
|
probably null |
Het |
| Ptbp2 |
A |
T |
3: 119,534,136 (GRCm39) |
Y244* |
probably null |
Het |
| Ralbp1 |
T |
C |
17: 66,166,086 (GRCm39) |
E366G |
probably damaging |
Het |
| Rergl |
T |
A |
6: 139,473,458 (GRCm39) |
|
probably benign |
Het |
| Slc25a45 |
T |
A |
19: 5,934,637 (GRCm39) |
|
probably null |
Het |
| Spop |
G |
A |
11: 95,376,747 (GRCm39) |
D267N |
possibly damaging |
Het |
| Tars2 |
T |
C |
3: 95,648,705 (GRCm39) |
D625G |
probably damaging |
Het |
| Tlr3 |
T |
A |
8: 45,851,428 (GRCm39) |
|
probably null |
Het |
| Tmem205 |
C |
T |
9: 21,832,584 (GRCm39) |
R109H |
probably benign |
Het |
| Tmem41b |
A |
G |
7: 109,581,935 (GRCm39) |
I56T |
probably damaging |
Het |
| Ube2q2 |
T |
C |
9: 55,099,163 (GRCm39) |
V168A |
probably damaging |
Het |
| Ufsp2 |
T |
A |
8: 46,436,585 (GRCm39) |
M112K |
probably damaging |
Het |
| Wipi2 |
T |
A |
5: 142,646,787 (GRCm39) |
V208E |
probably damaging |
Het |
| Xkr9 |
A |
G |
1: 13,754,474 (GRCm39) |
E156G |
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 |
|
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 |
|
|
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 |
Incidental Mutation