Incidental Mutation 'IGL01684:Clk1'
ID |
103910 |
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 # |
IGL01684
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
58451147-58463247 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 58456424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034868]
[ENSMUST00000151338]
[ENSMUST00000148330]
|
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 |
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186552
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156931
|
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: ENSMUST00000141570
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147258
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ammecr1l |
G |
T |
18: 31,904,821 (GRCm39) |
V21F |
probably damaging |
Het |
Aox1 |
G |
A |
1: 58,116,740 (GRCm39) |
|
probably null |
Het |
BC024139 |
A |
G |
15: 76,008,885 (GRCm39) |
L283P |
probably damaging |
Het |
Cacna1h |
C |
T |
17: 25,607,690 (GRCm39) |
G876S |
probably damaging |
Het |
Ccdc66 |
T |
C |
14: 27,222,206 (GRCm39) |
E179G |
possibly damaging |
Het |
Ckap5 |
T |
G |
2: 91,385,699 (GRCm39) |
D182E |
probably benign |
Het |
Dhx34 |
G |
A |
7: 15,937,204 (GRCm39) |
T831M |
probably damaging |
Het |
Enox1 |
T |
C |
14: 77,816,533 (GRCm39) |
I171T |
possibly damaging |
Het |
Fscn2 |
G |
A |
11: 120,258,131 (GRCm39) |
R351H |
probably damaging |
Het |
Gabbr2 |
G |
A |
4: 46,736,501 (GRCm39) |
S460L |
probably benign |
Het |
Gramd1a |
A |
G |
7: 30,838,330 (GRCm39) |
S308P |
possibly damaging |
Het |
Guca1a |
T |
C |
17: 47,706,068 (GRCm39) |
D137G |
probably null |
Het |
Heatr5a |
G |
A |
12: 52,002,294 (GRCm39) |
T214I |
probably benign |
Het |
Klf7 |
T |
C |
1: 64,160,051 (GRCm39) |
|
probably benign |
Het |
Macf1 |
A |
G |
4: 123,359,723 (GRCm39) |
S1854P |
probably damaging |
Het |
Mau2 |
A |
T |
8: 70,481,895 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,726,857 (GRCm39) |
I2639V |
probably benign |
Het |
Mylk |
A |
G |
16: 34,792,310 (GRCm39) |
M1544V |
possibly damaging |
Het |
Ogdh |
G |
T |
11: 6,292,546 (GRCm39) |
V420L |
probably damaging |
Het |
Or13a21 |
T |
C |
7: 139,998,828 (GRCm39) |
N286S |
probably damaging |
Het |
Or5b105 |
A |
G |
19: 13,080,353 (GRCm39) |
F105S |
possibly damaging |
Het |
Pcm1 |
A |
G |
8: 41,710,960 (GRCm39) |
T77A |
probably benign |
Het |
Piezo2 |
T |
A |
18: 63,216,241 (GRCm39) |
I947F |
probably damaging |
Het |
Prrc2c |
A |
T |
1: 162,534,031 (GRCm39) |
|
probably benign |
Het |
Ptch2 |
A |
G |
4: 116,961,984 (GRCm39) |
E107G |
probably damaging |
Het |
Rmdn3 |
T |
C |
2: 118,978,055 (GRCm39) |
E182G |
probably damaging |
Het |
Rpl23a-ps3 |
C |
T |
14: 33,892,745 (GRCm39) |
|
noncoding transcript |
Het |
Sorl1 |
T |
C |
9: 41,892,007 (GRCm39) |
D1881G |
probably damaging |
Het |
Tbc1d19 |
A |
G |
5: 54,014,221 (GRCm39) |
N283S |
probably benign |
Het |
Tcf20 |
A |
G |
15: 82,741,361 (GRCm39) |
F30S |
probably damaging |
Het |
Tiparp |
A |
T |
3: 65,460,754 (GRCm39) |
K581I |
probably damaging |
Het |
Tle3 |
T |
C |
9: 61,310,728 (GRCm39) |
|
probably benign |
Het |
Ubr3 |
C |
A |
2: 69,846,502 (GRCm39) |
Y1608* |
probably null |
Het |
Vmn1r59 |
T |
C |
7: 5,457,299 (GRCm39) |
T154A |
probably benign |
Het |
Vta1 |
A |
G |
10: 14,559,875 (GRCm39) |
I115T |
probably damaging |
Het |
Wwtr1 |
C |
A |
3: 57,483,210 (GRCm39) |
R31L |
probably damaging |
Het |
Zfp385b |
T |
C |
2: 77,550,019 (GRCm39) |
D22G |
possibly damaging |
Het |
Zfp516 |
A |
G |
18: 82,975,326 (GRCm39) |
E508G |
probably damaging |
Het |
Zfp735 |
T |
A |
11: 73,581,191 (GRCm39) |
V76E |
possibly 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 |
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 |
|
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 |
2014-01-21 |