Incidental Mutation 'IGL03117:Clk1'
| ID |
419498 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clk1
|
| Ensembl Gene |
ENSMUSG00000026034 |
| Gene Name |
CDC-like kinase 1 |
| Synonyms |
Clk1, STY |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03117
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
58451147-58463247 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 58456166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034868]
[ENSMUST00000148330]
[ENSMUST00000151338]
|
| AlphaFold |
P22518 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034868
|
| SMART Domains |
Protein: ENSMUSP00000034868
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 |
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: ENSMUST00000156931
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186552
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000147258
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141570
|
| 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 |
|
| 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 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d3 |
A |
G |
14: 29,189,909 (GRCm39) |
L109P |
probably damaging |
Het |
| Caprin2 |
A |
T |
6: 148,763,964 (GRCm39) |
S568T |
possibly damaging |
Het |
| Catip |
A |
G |
1: 74,403,744 (GRCm39) |
T154A |
probably null |
Het |
| Ccdc187 |
A |
G |
2: 26,177,980 (GRCm39) |
S270P |
possibly damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,324,559 (GRCm39) |
Y39C |
probably damaging |
Het |
| Chrdl2 |
A |
T |
7: 99,676,787 (GRCm39) |
H203L |
possibly damaging |
Het |
| Chrnb2 |
A |
G |
3: 89,670,552 (GRCm39) |
V62A |
probably damaging |
Het |
| Cklf |
T |
A |
8: 104,984,055 (GRCm39) |
S73T |
possibly damaging |
Het |
| Ctdp1 |
T |
C |
18: 80,492,716 (GRCm39) |
D593G |
probably damaging |
Het |
| Ctsc |
A |
T |
7: 87,958,988 (GRCm39) |
I423F |
probably damaging |
Het |
| D130043K22Rik |
T |
A |
13: 25,073,825 (GRCm39) |
V968E |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,696,140 (GRCm39) |
S166G |
possibly damaging |
Het |
| Dnah2 |
G |
T |
11: 69,327,117 (GRCm39) |
|
probably benign |
Het |
| Dnajb11 |
G |
T |
16: 22,687,888 (GRCm39) |
R206L |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,786,908 (GRCm39) |
|
probably benign |
Het |
| Ehd2 |
T |
C |
7: 15,684,396 (GRCm39) |
S468G |
possibly damaging |
Het |
| Ehmt2 |
T |
A |
17: 35,125,787 (GRCm39) |
V640E |
possibly damaging |
Het |
| Elmo2 |
T |
A |
2: 165,140,573 (GRCm39) |
E299D |
probably benign |
Het |
| Eps8l1 |
T |
C |
7: 4,473,886 (GRCm39) |
L231P |
probably damaging |
Het |
| Esd |
A |
G |
14: 74,978,686 (GRCm39) |
T83A |
probably damaging |
Het |
| Flt3 |
A |
G |
5: 147,293,020 (GRCm39) |
F529L |
probably benign |
Het |
| Hnrnpu |
G |
A |
1: 178,158,339 (GRCm39) |
|
probably benign |
Het |
| Hpx |
G |
T |
7: 105,249,278 (GRCm39) |
A7E |
possibly damaging |
Het |
| Ighv6-5 |
C |
T |
12: 114,380,320 (GRCm39) |
V85M |
possibly damaging |
Het |
| Itpr3 |
G |
A |
17: 27,338,240 (GRCm39) |
V2503I |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,875,114 (GRCm39) |
T355A |
probably benign |
Het |
| Matr3 |
G |
T |
18: 35,705,710 (GRCm39) |
G212C |
probably damaging |
Het |
| Mrpl35 |
A |
T |
6: 71,793,263 (GRCm39) |
Y129* |
probably null |
Het |
| Myh2 |
T |
C |
11: 67,071,710 (GRCm39) |
I509T |
possibly damaging |
Het |
| Nat8l |
G |
T |
5: 34,158,288 (GRCm39) |
A233S |
probably damaging |
Het |
| Nipbl |
A |
C |
15: 8,361,936 (GRCm39) |
L1447W |
probably damaging |
Het |
| Paf1 |
T |
A |
7: 28,094,481 (GRCm39) |
C31S |
possibly damaging |
Het |
| Parp4 |
A |
C |
14: 56,840,313 (GRCm39) |
T573P |
probably benign |
Het |
| Phf12 |
A |
T |
11: 77,913,846 (GRCm39) |
|
probably benign |
Het |
| Pi4k2b |
A |
G |
5: 52,905,765 (GRCm39) |
E102G |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,762,382 (GRCm39) |
C7R |
probably benign |
Het |
| Prpsap2 |
T |
C |
11: 61,631,815 (GRCm39) |
R181G |
probably benign |
Het |
| Psd |
A |
G |
19: 46,311,561 (GRCm39) |
|
probably benign |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Rab21 |
A |
T |
10: 115,151,097 (GRCm39) |
|
probably null |
Het |
| Relb |
T |
C |
7: 19,346,582 (GRCm39) |
D330G |
probably damaging |
Het |
| Rhoc |
A |
T |
3: 104,700,236 (GRCm39) |
T100S |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,802,389 (GRCm39) |
H744N |
probably damaging |
Het |
| Sardh |
C |
T |
2: 27,129,458 (GRCm39) |
G280D |
probably damaging |
Het |
| Scyl2 |
A |
C |
10: 89,493,729 (GRCm39) |
N346K |
possibly damaging |
Het |
| Sec16b |
T |
C |
1: 157,362,970 (GRCm39) |
F267S |
probably damaging |
Het |
| Slc44a5 |
T |
A |
3: 153,956,714 (GRCm39) |
M322K |
probably benign |
Het |
| St8sia4 |
T |
A |
1: 95,519,508 (GRCm39) |
N327Y |
probably benign |
Het |
| Tbl1xr1 |
T |
A |
3: 22,257,323 (GRCm39) |
Y395* |
probably null |
Het |
| Unc13c |
A |
T |
9: 73,441,307 (GRCm39) |
S1897R |
probably benign |
Het |
| Vangl2 |
A |
G |
1: 171,840,415 (GRCm39) |
S58P |
probably damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,501 (GRCm39) |
I288T |
probably benign |
Het |
| Vmn1r236 |
A |
G |
17: 21,507,508 (GRCm39) |
I209V |
probably benign |
Het |
| Zfp809 |
A |
G |
9: 22,149,950 (GRCm39) |
Y149C |
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 |
|
|
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 |
|
|
R5196:Clk1
|
UTSW |
1 |
58,453,772 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation