Incidental Mutation 'R5407:Tlk2'
| ID |
426341 |
| 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: 0.729)
|
| Stock # |
R5407 (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 A
at 105131201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 182
(S182R)
|
| 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: S150R
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000015107
Gene: ENSMUSG00000020694
AA Change: S150R
| 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: S182R
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090198
Gene: ENSMUSG00000020694
AA Change: S182R
| 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: S150R
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000102552
Gene: ENSMUSG00000020694
AA Change: S150R
| 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: S182R
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102554
Gene: ENSMUSG00000020694
AA Change: S182R
| 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 |
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 |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152404
AA Change: S130R
|
| SMART Domains |
Protein: ENSMUSP00000123179
Gene: ENSMUSG00000020694
AA Change: S130R
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
T |
C |
4: 144,396,895 (GRCm39) |
K279R |
probably benign |
Het |
| Aldoart2 |
A |
C |
12: 55,612,981 (GRCm39) |
Y302S |
probably damaging |
Het |
| Arpp21 |
G |
T |
9: 111,945,821 (GRCm39) |
|
probably benign |
Het |
| Camk1g |
C |
T |
1: 193,029,680 (GRCm39) |
|
probably null |
Het |
| Cand2 |
G |
A |
6: 115,762,161 (GRCm39) |
V196I |
possibly damaging |
Het |
| Cdc25b |
T |
A |
2: 131,035,567 (GRCm39) |
L381Q |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,654,946 (GRCm39) |
G610E |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,342,575 (GRCm39) |
E797K |
probably damaging |
Het |
| Col3a1 |
A |
T |
1: 45,385,212 (GRCm39) |
I110L |
probably benign |
Het |
| Col5a2 |
T |
A |
1: 45,445,440 (GRCm39) |
D506V |
possibly damaging |
Het |
| Crp |
A |
T |
1: 172,525,676 (GRCm39) |
|
probably null |
Het |
| Esco1 |
G |
T |
18: 10,574,886 (GRCm39) |
H729N |
probably damaging |
Het |
| Evx2 |
A |
G |
2: 74,488,170 (GRCm39) |
S217P |
probably damaging |
Het |
| Gabrb1 |
T |
C |
5: 72,279,364 (GRCm39) |
V303A |
possibly damaging |
Het |
| Gcnt3 |
A |
G |
9: 69,941,471 (GRCm39) |
Y366H |
probably benign |
Het |
| Gmpr2 |
A |
G |
14: 55,915,733 (GRCm39) |
T304A |
possibly damaging |
Het |
| Golga3 |
C |
T |
5: 110,349,856 (GRCm39) |
Q656* |
probably null |
Het |
| Gramd1b |
T |
A |
9: 40,366,951 (GRCm39) |
M6L |
probably damaging |
Het |
| Kif17 |
T |
C |
4: 138,025,532 (GRCm39) |
Y945H |
probably damaging |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Lrrk1 |
T |
A |
7: 65,920,545 (GRCm39) |
Q1486L |
probably benign |
Het |
| Mboat7 |
G |
T |
7: 3,694,380 (GRCm39) |
H72N |
probably damaging |
Het |
| Med12l |
G |
A |
3: 59,165,622 (GRCm39) |
V1447M |
probably damaging |
Het |
| Mrpl3 |
T |
C |
9: 104,954,294 (GRCm39) |
F333L |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,702,796 (GRCm39) |
T246A |
probably benign |
Het |
| Neil3 |
A |
T |
8: 54,054,054 (GRCm39) |
V325E |
probably benign |
Het |
| Nlrp4g |
A |
T |
9: 124,349,930 (GRCm38) |
|
noncoding transcript |
Het |
| Onecut1 |
C |
T |
9: 74,796,738 (GRCm39) |
S419F |
probably damaging |
Het |
| Or10n1 |
A |
T |
9: 39,524,991 (GRCm39) |
I43F |
probably damaging |
Het |
| Ptp4a1 |
A |
T |
1: 30,984,044 (GRCm39) |
V58E |
probably benign |
Het |
| Radil |
C |
T |
5: 142,493,970 (GRCm39) |
R49H |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,582 (GRCm39) |
E1648G |
possibly damaging |
Het |
| Rnft2 |
C |
T |
5: 118,380,567 (GRCm39) |
M13I |
probably damaging |
Het |
| Satb2 |
A |
G |
1: 56,987,309 (GRCm39) |
L92P |
probably damaging |
Het |
| Scn4a |
T |
C |
11: 106,211,715 (GRCm39) |
Y1434C |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,035,486 (GRCm39) |
M657K |
probably benign |
Het |
| Shd |
A |
G |
17: 56,280,936 (GRCm39) |
E204G |
probably damaging |
Het |
| Shh |
T |
A |
5: 28,671,578 (GRCm39) |
R62* |
probably null |
Het |
| Slc9a4 |
A |
G |
1: 40,646,954 (GRCm39) |
T483A |
probably benign |
Het |
| Tbc1d7 |
A |
C |
13: 43,308,178 (GRCm39) |
S96A |
probably benign |
Het |
| Tfcp2 |
T |
C |
15: 100,425,755 (GRCm39) |
|
probably null |
Het |
| Tppp2 |
A |
G |
14: 52,156,955 (GRCm39) |
|
probably null |
Het |
| Trim65 |
T |
C |
11: 116,016,906 (GRCm39) |
T519A |
probably benign |
Het |
| Trio |
T |
C |
15: 27,844,892 (GRCm39) |
|
probably null |
Het |
| Usf3 |
G |
A |
16: 44,037,769 (GRCm39) |
V750I |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,556,369 (GRCm39) |
K1480N |
probably damaging |
Het |
| Vmn1r58 |
T |
A |
7: 5,413,872 (GRCm39) |
R119S |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,341,313 (GRCm39) |
I1185V |
probably benign |
Het |
| Zc3h7b |
A |
G |
15: 81,670,092 (GRCm39) |
H654R |
probably damaging |
Het |
| Zfyve16 |
G |
T |
13: 92,636,792 (GRCm39) |
A1306E |
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 |
|
|
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'- TTACCTTCAGAAACATGAAGGTACC -3'
(R):5'- CCAGAAATACTAAACAATGGGGTC -3'
Sequencing Primer
(F):5'- GAAGGTACCATATCCAGCTTTTG -3'
(R):5'- TACTAAACAATGGGGTCTAGTCAAAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation