Incidental Mutation 'R1505:Tlk2'
| ID |
169128 |
| 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 |
040868-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.748)
|
| Stock # |
R1505 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
105069633-105174785 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 105151121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 468
(V468G)
|
| 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: V436G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000015107
Gene: ENSMUSG00000020694
AA Change: V436G
| 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: ENSMUST00000092537
AA Change: V468G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090198
Gene: ENSMUSG00000020694
AA Change: V468G
| 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: V436G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102552
Gene: ENSMUSG00000020694
AA Change: V436G
| 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: V468G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102554
Gene: ENSMUSG00000020694
AA Change: V468G
| 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: V404G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118520
Gene: ENSMUSG00000020694
AA Change: V404G
| 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 |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 86.3%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
A |
5: 105,099,431 (GRCm39) |
R444W |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,661 (GRCm39) |
S545P |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,447,885 (GRCm39) |
R219G |
possibly damaging |
Het |
| Ap2m1 |
C |
G |
16: 20,361,447 (GRCm39) |
P372A |
probably benign |
Het |
| Calml3 |
T |
A |
13: 3,854,071 (GRCm39) |
T45S |
probably benign |
Het |
| Casp8 |
A |
G |
1: 58,868,081 (GRCm39) |
E174G |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cfap221 |
A |
C |
1: 119,881,358 (GRCm39) |
L368R |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,733,123 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
A |
T |
8: 96,455,295 (GRCm39) |
I2035N |
probably damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,637,408 (GRCm39) |
R23G |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,831,303 (GRCm39) |
H777P |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam162b |
G |
A |
10: 51,463,298 (GRCm39) |
A123V |
probably damaging |
Het |
| Golgb1 |
T |
A |
16: 36,740,005 (GRCm39) |
N2781K |
possibly damaging |
Het |
| Hs2st1 |
C |
A |
3: 144,140,322 (GRCm39) |
R333L |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,705,533 (GRCm39) |
H1319R |
probably null |
Het |
| Necab1 |
A |
T |
4: 14,960,047 (GRCm39) |
M300K |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 78,110,272 (GRCm39) |
I321F |
probably damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,200 (GRCm39) |
V90A |
probably benign |
Het |
| Or7e169 |
A |
T |
9: 19,757,084 (GRCm39) |
M277K |
probably benign |
Het |
| Or8g52 |
A |
G |
9: 39,630,774 (GRCm39) |
N84D |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,557 (GRCm39) |
H176Q |
possibly damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,409,586 (GRCm39) |
S483P |
probably damaging |
Het |
| Pcdhb17 |
A |
C |
18: 37,619,875 (GRCm39) |
N555T |
probably damaging |
Het |
| Pdgfc |
G |
A |
3: 81,116,543 (GRCm39) |
R299H |
possibly damaging |
Het |
| Ptpn7 |
A |
T |
1: 135,062,302 (GRCm39) |
T83S |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,652,354 (GRCm39) |
V79A |
possibly damaging |
Het |
| Rexo5 |
T |
A |
7: 119,398,826 (GRCm39) |
C54* |
probably null |
Het |
| Riok3 |
A |
G |
18: 12,285,935 (GRCm39) |
K418R |
probably benign |
Het |
| Robo4 |
G |
A |
9: 37,314,523 (GRCm39) |
G170D |
probably damaging |
Het |
| Rpl8 |
A |
G |
15: 76,788,610 (GRCm39) |
D33G |
possibly damaging |
Het |
| Rspo2 |
T |
C |
15: 42,939,239 (GRCm39) |
T184A |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,569,478 (GRCm39) |
M4942K |
possibly damaging |
Het |
| Sel1l |
T |
C |
12: 91,780,736 (GRCm39) |
Y585C |
probably damaging |
Het |
| Slc25a11 |
G |
T |
11: 70,537,650 (GRCm39) |
D13E |
probably benign |
Het |
| Slc5a6 |
G |
T |
5: 31,194,455 (GRCm39) |
H584N |
probably benign |
Het |
| Snrpf |
A |
G |
10: 93,419,381 (GRCm39) |
V69A |
possibly damaging |
Het |
| Sorbs3 |
T |
A |
14: 70,428,251 (GRCm39) |
K475* |
probably null |
Het |
| Speg |
G |
A |
1: 75,352,186 (GRCm39) |
V35I |
probably benign |
Het |
| Trim6 |
T |
A |
7: 103,881,771 (GRCm39) |
W341R |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,926,184 (GRCm39) |
I326N |
probably damaging |
Het |
| Vipas39 |
T |
C |
12: 87,292,934 (GRCm39) |
Y318C |
probably damaging |
Het |
| Vmn1r185 |
T |
A |
7: 26,310,903 (GRCm39) |
I201F |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,641,608 (GRCm39) |
H778R |
probably benign |
Het |
| Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGGAGCAAGCCTGAGAACATC -3'
(R):5'- TCTGAGCTGGAGTGAGCAGAGAC -3'
Sequencing Primer
(F):5'- AGCCTGAGAACATCTGCTTG -3'
(R):5'- caattcccagcaaccacac -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation