Incidental Mutation 'R5196:Clk1'
ID |
400188 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clk1
|
Ensembl Gene |
ENSMUSG00000026034 |
Gene Name |
CDC-like kinase 1 |
Synonyms |
Clk1, STY |
MMRRC Submission |
042772-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5196 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
58451147-58463247 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58453772 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 301
(T301S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034868]
[ENSMUST00000148330]
[ENSMUST00000151338]
|
AlphaFold |
P22518 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034868
AA Change: T301S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000034868 Gene: ENSMUSG00000026034 AA Change: T301S
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
low complexity region
|
99 |
139 |
N/A |
INTRINSIC |
S_TKc
|
160 |
476 |
3.55e-79 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123580
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129303
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129577
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131051
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135380
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139787
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186552
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156931
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141570
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148330
|
SMART Domains |
Protein: ENSMUSP00000137649 Gene: ENSMUSG00000026034
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
low complexity region
|
99 |
129 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151338
|
SMART Domains |
Protein: ENSMUSP00000137815 Gene: ENSMUSG00000026034
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
low complexity region
|
99 |
129 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0602 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
100% (62/62) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
T |
C |
2: 30,686,450 (GRCm39) |
T281A |
possibly damaging |
Het |
4930503B20Rik |
A |
G |
3: 146,352,018 (GRCm39) |
|
probably benign |
Het |
6330409D20Rik |
T |
A |
2: 32,630,552 (GRCm39) |
|
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Amigo2 |
A |
G |
15: 97,143,942 (GRCm39) |
F160S |
probably damaging |
Het |
Arcn1 |
A |
T |
9: 44,671,324 (GRCm39) |
L68M |
probably damaging |
Het |
Arhgef25 |
A |
G |
10: 127,020,978 (GRCm39) |
S303P |
probably damaging |
Het |
Asph |
A |
T |
4: 9,607,830 (GRCm39) |
S163T |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,913,136 (GRCm39) |
|
probably benign |
Het |
Bltp3a |
A |
G |
17: 28,075,737 (GRCm39) |
I5V |
probably benign |
Het |
Ccm2 |
G |
A |
11: 6,511,181 (GRCm39) |
|
probably benign |
Het |
Cdc42bpa |
T |
C |
1: 179,899,978 (GRCm39) |
V431A |
probably benign |
Het |
Cdh20 |
T |
A |
1: 110,065,730 (GRCm39) |
M668K |
probably damaging |
Het |
Cfap43 |
A |
T |
19: 47,814,364 (GRCm39) |
W157R |
probably damaging |
Het |
Chrm5 |
T |
C |
2: 112,310,729 (GRCm39) |
Y129C |
probably damaging |
Het |
Chrna5 |
A |
G |
9: 54,913,803 (GRCm39) |
I421V |
possibly damaging |
Het |
Col6a3 |
G |
T |
1: 90,744,260 (GRCm39) |
|
probably null |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fbxw19 |
T |
C |
9: 109,313,496 (GRCm39) |
Y234C |
probably benign |
Het |
Fgd4 |
T |
A |
16: 16,302,006 (GRCm39) |
N183I |
probably benign |
Het |
Fnip2 |
T |
C |
3: 79,479,845 (GRCm39) |
|
probably benign |
Het |
Gask1a |
T |
G |
9: 121,794,727 (GRCm39) |
S294A |
probably benign |
Het |
Gm9847 |
T |
A |
12: 14,545,016 (GRCm39) |
|
noncoding transcript |
Het |
H2-T23 |
A |
G |
17: 36,343,499 (GRCm39) |
|
probably null |
Het |
Hdlbp |
T |
C |
1: 93,347,915 (GRCm39) |
E613G |
probably damaging |
Het |
Kat6a |
G |
A |
8: 23,401,729 (GRCm39) |
R366H |
probably damaging |
Het |
Kctd4 |
A |
G |
14: 76,200,127 (GRCm39) |
T33A |
probably benign |
Het |
Klrb1c |
T |
A |
6: 128,757,262 (GRCm39) |
S268C |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lrrfip1 |
A |
G |
1: 91,042,330 (GRCm39) |
E245G |
probably damaging |
Het |
Mast3 |
A |
T |
8: 71,240,889 (GRCm39) |
I220N |
probably damaging |
Het |
Mfap3 |
A |
G |
11: 57,420,639 (GRCm39) |
T207A |
probably damaging |
Het |
Mtdh |
G |
T |
15: 34,118,150 (GRCm39) |
K75N |
probably damaging |
Het |
Mybpc1 |
A |
G |
10: 88,372,213 (GRCm39) |
Y806H |
probably damaging |
Het |
Ntng1 |
T |
C |
3: 109,842,299 (GRCm39) |
D158G |
probably damaging |
Het |
Odr4 |
T |
A |
1: 150,258,140 (GRCm39) |
D165V |
probably damaging |
Het |
Or5d46 |
A |
G |
2: 88,170,092 (GRCm39) |
Y61C |
possibly damaging |
Het |
Or6c216 |
T |
A |
10: 129,678,650 (GRCm39) |
D87V |
possibly damaging |
Het |
Pask |
A |
G |
1: 93,237,805 (GRCm39) |
|
probably benign |
Het |
Pif1 |
G |
T |
9: 65,495,374 (GRCm39) |
A95S |
probably benign |
Het |
Plppr2 |
T |
C |
9: 21,852,428 (GRCm39) |
F104S |
probably damaging |
Het |
Prmt9 |
G |
A |
8: 78,291,626 (GRCm39) |
V333M |
probably benign |
Het |
Pten |
A |
T |
19: 32,792,897 (GRCm39) |
M239L |
probably benign |
Het |
Rb1cc1 |
A |
G |
1: 6,304,454 (GRCm39) |
D67G |
probably damaging |
Het |
Reg2 |
T |
A |
6: 78,382,530 (GRCm39) |
L12* |
probably null |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Slc5a7 |
C |
A |
17: 54,588,750 (GRCm39) |
|
probably null |
Het |
Tcaf3 |
G |
T |
6: 42,570,649 (GRCm39) |
R368S |
probably benign |
Het |
Tfcp2 |
A |
G |
15: 100,418,595 (GRCm39) |
V189A |
probably damaging |
Het |
Wdr12 |
T |
C |
1: 60,126,243 (GRCm39) |
S191G |
probably damaging |
Het |
Zfp536 |
G |
A |
7: 37,180,185 (GRCm39) |
R807W |
probably damaging |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
Other mutations in Clk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01152:Clk1
|
APN |
1 |
58,452,611 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01516:Clk1
|
APN |
1 |
58,453,563 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01684:Clk1
|
APN |
1 |
58,456,424 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02621:Clk1
|
APN |
1 |
58,453,614 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02812:Clk1
|
APN |
1 |
58,453,635 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03028:Clk1
|
APN |
1 |
58,460,261 (GRCm39) |
nonsense |
probably null |
|
IGL03117:Clk1
|
APN |
1 |
58,456,166 (GRCm39) |
splice site |
probably null |
|
PIT4243001:Clk1
|
UTSW |
1 |
58,458,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R0149:Clk1
|
UTSW |
1 |
58,453,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R0309:Clk1
|
UTSW |
1 |
58,452,192 (GRCm39) |
splice site |
probably benign |
|
R0730:Clk1
|
UTSW |
1 |
58,453,558 (GRCm39) |
missense |
probably benign |
0.38 |
R1570:Clk1
|
UTSW |
1 |
58,453,584 (GRCm39) |
missense |
probably benign |
0.28 |
R1729:Clk1
|
UTSW |
1 |
58,460,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R1905:Clk1
|
UTSW |
1 |
58,461,101 (GRCm39) |
splice site |
probably benign |
|
R2382:Clk1
|
UTSW |
1 |
58,460,448 (GRCm39) |
missense |
probably benign |
0.01 |
R2850:Clk1
|
UTSW |
1 |
58,451,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R4658:Clk1
|
UTSW |
1 |
58,452,146 (GRCm39) |
missense |
probably benign |
0.01 |
R4846:Clk1
|
UTSW |
1 |
58,460,261 (GRCm39) |
missense |
probably benign |
0.33 |
R5011:Clk1
|
UTSW |
1 |
58,453,642 (GRCm39) |
missense |
probably benign |
|
R5699:Clk1
|
UTSW |
1 |
58,459,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R5838:Clk1
|
UTSW |
1 |
58,451,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R5839:Clk1
|
UTSW |
1 |
58,461,074 (GRCm39) |
missense |
probably benign |
0.09 |
R6697:Clk1
|
UTSW |
1 |
58,453,781 (GRCm39) |
missense |
probably benign |
0.21 |
R7293:Clk1
|
UTSW |
1 |
58,453,772 (GRCm39) |
missense |
probably benign |
0.00 |
R7332:Clk1
|
UTSW |
1 |
58,451,853 (GRCm39) |
missense |
probably benign |
0.16 |
R7663:Clk1
|
UTSW |
1 |
58,460,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R8550:Clk1
|
UTSW |
1 |
58,451,835 (GRCm39) |
missense |
probably damaging |
0.99 |
R9090:Clk1
|
UTSW |
1 |
58,459,312 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9268:Clk1
|
UTSW |
1 |
58,458,882 (GRCm39) |
missense |
unknown |
|
R9271:Clk1
|
UTSW |
1 |
58,459,312 (GRCm39) |
missense |
possibly damaging |
0.81 |
Z1176:Clk1
|
UTSW |
1 |
58,456,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTGTTCATCATCATATGTTGCAC -3'
(R):5'- CAGTACCCTACCTAGGCTAGTC -3'
Sequencing Primer
(F):5'- ATATGTTGCACTTCCAAAGTCCAC -3'
(R):5'- GTACCCTACCTAGGCTAGTCTTAGAC -3'
|
Posted On |
2016-07-06 |