Incidental Mutation 'R6922:Tlk2'
| ID |
539688 |
| 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 |
045041-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.748)
|
| Stock # |
R6922 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
105069633-105174785 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 105147779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015107]
[ENSMUST00000092537]
[ENSMUST00000106939]
[ENSMUST00000106941]
[ENSMUST00000126175]
[ENSMUST00000145048]
|
| AlphaFold |
O55047 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000015107
|
| SMART Domains |
Protein: ENSMUSP00000015107
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
|
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 null
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 null
Transcript: ENSMUST00000106939
|
| SMART Domains |
Protein: ENSMUSP00000102552
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
|
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 null
Transcript: ENSMUST00000106941
|
| SMART Domains |
Protein: ENSMUSP00000102554
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 |
|
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 null
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: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
T |
C |
15: 72,985,601 (GRCm39) |
I665V |
probably benign |
Het |
| Aoc1l3 |
T |
G |
6: 48,964,508 (GRCm39) |
F172C |
probably damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,063,983 (GRCm39) |
M74L |
possibly damaging |
Het |
| Asb4 |
T |
C |
6: 5,398,304 (GRCm39) |
C90R |
possibly damaging |
Het |
| B3galt4 |
T |
A |
17: 34,169,821 (GRCm39) |
D139V |
probably damaging |
Het |
| Camta2 |
A |
C |
11: 70,564,964 (GRCm39) |
I852S |
probably benign |
Het |
| Cd200l1 |
A |
T |
16: 45,264,294 (GRCm39) |
M88K |
probably benign |
Het |
| Cox4i2 |
G |
T |
2: 152,599,015 (GRCm39) |
E57D |
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,091,724 (GRCm39) |
I1055T |
probably benign |
Het |
| Eif1ad18 |
T |
A |
12: 88,050,602 (GRCm39) |
W46R |
probably benign |
Het |
| Eif4g3 |
C |
T |
4: 137,824,646 (GRCm39) |
P284S |
probably damaging |
Het |
| Ephb1 |
C |
A |
9: 101,806,463 (GRCm39) |
|
probably null |
Het |
| Fbxw7 |
A |
T |
3: 84,879,723 (GRCm39) |
|
probably null |
Het |
| Frem1 |
C |
A |
4: 82,840,506 (GRCm39) |
D1789Y |
probably damaging |
Het |
| Gm29106 |
A |
T |
1: 118,127,524 (GRCm39) |
R405S |
probably damaging |
Het |
| Greb1l |
G |
A |
18: 10,547,482 (GRCm39) |
V1567M |
possibly damaging |
Het |
| Hapstr1 |
A |
G |
16: 8,648,553 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
C |
A |
13: 12,449,956 (GRCm39) |
D1983E |
probably benign |
Het |
| Lhfpl2 |
G |
T |
13: 94,311,029 (GRCm39) |
A100S |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,655,301 (GRCm39) |
V1073D |
probably damaging |
Het |
| Naip6 |
G |
A |
13: 100,438,706 (GRCm39) |
L364F |
possibly damaging |
Het |
| Nek9 |
A |
G |
12: 85,350,311 (GRCm39) |
L921P |
probably damaging |
Het |
| Nim1k |
C |
T |
13: 120,189,263 (GRCm39) |
E49K |
probably damaging |
Het |
| Nsun5 |
A |
C |
5: 135,399,046 (GRCm39) |
N32T |
probably damaging |
Het |
| Nuggc |
T |
C |
14: 65,855,092 (GRCm39) |
S325P |
probably damaging |
Het |
| Or2d36 |
A |
G |
7: 106,747,290 (GRCm39) |
I256V |
probably damaging |
Het |
| Or5w12 |
T |
A |
2: 87,501,797 (GRCm39) |
K305* |
probably null |
Het |
| Pcdhga7 |
A |
G |
18: 37,848,710 (GRCm39) |
D239G |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,444,273 (GRCm39) |
D523G |
probably benign |
Het |
| Prokr1 |
C |
A |
6: 87,565,455 (GRCm39) |
W130L |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,381,562 (GRCm39) |
N266S |
probably damaging |
Het |
| Rdh10 |
T |
C |
1: 16,176,255 (GRCm39) |
V5A |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,267,834 (GRCm39) |
L1140P |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,448,874 (GRCm39) |
D3640G |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,668,749 (GRCm39) |
E916G |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,171,624 (GRCm39) |
H160Q |
probably damaging |
Het |
| Tmprss4 |
A |
G |
9: 45,097,220 (GRCm39) |
V15A |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,014,129 (GRCm39) |
L559P |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,213,045 (GRCm39) |
L990H |
probably damaging |
Het |
| Ttll7 |
A |
G |
3: 146,615,369 (GRCm39) |
T278A |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,604,780 (GRCm39) |
L18385F |
probably damaging |
Het |
| Upf3a |
G |
T |
8: 13,841,911 (GRCm39) |
A149S |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp316 |
A |
T |
5: 143,239,280 (GRCm39) |
F913Y |
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 |
|
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'- GATGTTAGTTGTCAAGCTCTTAGC -3'
(R):5'- GGACAAAACCAGGGTCAAATTC -3'
Sequencing Primer
(F):5'- GCTGGACTATGGAAGACTAG -3'
(R):5'- GTTAGAGCTACATGATGTACAAGCCC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation