Incidental Mutation 'IGL03028:Clk1'
ID |
408300 |
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 # |
IGL03028
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
58451147-58463247 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 58460261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 123
(S123*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137815
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034868]
[ENSMUST00000151338]
[ENSMUST00000148330]
|
AlphaFold |
P22518 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034868
AA Change: S123*
|
SMART Domains |
Protein: ENSMUSP00000034868 Gene: ENSMUSG00000026034 AA Change: S123*
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: ENSMUST00000129577
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131051
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135380
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147258
|
Predicted Effect |
probably null
Transcript: ENSMUST00000151338
AA Change: S123*
|
SMART Domains |
Protein: ENSMUSP00000137815 Gene: ENSMUSG00000026034 AA Change: S123*
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 null
Transcript: ENSMUST00000148330
AA Change: S123*
|
SMART Domains |
Protein: ENSMUSP00000137649 Gene: ENSMUSG00000026034 AA Change: S123*
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: ENSMUST00000156931
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186552
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat1 |
A |
C |
9: 53,506,062 (GRCm39) |
V86G |
probably benign |
Het |
Adgra3 |
A |
T |
5: 50,174,194 (GRCm39) |
W115R |
probably benign |
Het |
Ahr |
G |
A |
12: 35,554,709 (GRCm39) |
A470V |
probably benign |
Het |
Aoah |
A |
T |
13: 21,000,752 (GRCm39) |
Q62L |
possibly damaging |
Het |
Arhgef12 |
A |
T |
9: 42,937,524 (GRCm39) |
D100E |
possibly damaging |
Het |
Asic1 |
A |
G |
15: 99,570,038 (GRCm39) |
N120D |
probably benign |
Het |
Atp2b2 |
A |
G |
6: 113,736,103 (GRCm39) |
L988P |
probably damaging |
Het |
Atxn2 |
T |
A |
5: 121,948,972 (GRCm39) |
H789Q |
probably damaging |
Het |
Col10a1 |
C |
T |
10: 34,271,012 (GRCm39) |
A328V |
probably benign |
Het |
Col26a1 |
G |
T |
5: 136,771,972 (GRCm39) |
D415E |
possibly damaging |
Het |
Ctla2a |
A |
G |
13: 61,083,273 (GRCm39) |
|
probably benign |
Het |
Cwf19l2 |
A |
G |
9: 3,430,622 (GRCm39) |
E318G |
probably benign |
Het |
Dnajc16 |
C |
T |
4: 141,495,043 (GRCm39) |
W523* |
probably null |
Het |
Ehhadh |
T |
C |
16: 21,581,144 (GRCm39) |
E616G |
probably damaging |
Het |
F5 |
A |
T |
1: 164,020,569 (GRCm39) |
K1015* |
probably null |
Het |
Fam78a |
A |
G |
2: 31,972,894 (GRCm39) |
W9R |
possibly damaging |
Het |
Frs2 |
A |
T |
10: 116,909,838 (GRCm39) |
M508K |
possibly damaging |
Het |
Gm3164 |
A |
T |
14: 4,440,111 (GRCm38) |
M200L |
probably benign |
Het |
Gm44511 |
T |
C |
6: 128,757,358 (GRCm39) |
S179G |
probably damaging |
Het |
Gpr25 |
G |
A |
1: 136,188,550 (GRCm39) |
S21L |
probably benign |
Het |
Hsdl2 |
A |
G |
4: 59,594,471 (GRCm39) |
D34G |
probably damaging |
Het |
Kcnt1 |
A |
G |
2: 25,799,215 (GRCm39) |
|
probably null |
Het |
Kl |
A |
G |
5: 150,915,015 (GRCm39) |
Y914C |
probably damaging |
Het |
Map3k3 |
T |
G |
11: 106,001,577 (GRCm39) |
V45G |
probably damaging |
Het |
Mppe1 |
A |
C |
18: 67,360,755 (GRCm39) |
C261W |
probably damaging |
Het |
Nin |
T |
C |
12: 70,082,044 (GRCm39) |
T1640A |
probably benign |
Het |
Or51a8 |
T |
A |
7: 102,550,036 (GRCm39) |
I154N |
possibly damaging |
Het |
Or51ac3 |
A |
G |
7: 103,213,796 (GRCm39) |
|
probably null |
Het |
Or5c1 |
C |
T |
2: 37,221,968 (GRCm39) |
L70F |
probably damaging |
Het |
Or5p59 |
T |
A |
7: 107,703,380 (GRCm39) |
M288K |
probably damaging |
Het |
Or7g26 |
A |
T |
9: 19,230,664 (GRCm39) |
Y284F |
probably damaging |
Het |
Oxr1 |
A |
G |
15: 41,680,559 (GRCm39) |
N166D |
probably damaging |
Het |
Pank4 |
T |
A |
4: 155,054,442 (GRCm39) |
|
probably benign |
Het |
Pgd |
A |
G |
4: 149,246,084 (GRCm39) |
|
probably null |
Het |
Pitrm1 |
C |
T |
13: 6,624,429 (GRCm39) |
H831Y |
probably benign |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Rad51 |
A |
C |
2: 118,946,795 (GRCm39) |
M1L |
possibly damaging |
Het |
Recql5 |
G |
T |
11: 115,785,257 (GRCm39) |
S746R |
possibly damaging |
Het |
Rhbdl3 |
C |
T |
11: 80,214,287 (GRCm39) |
Q133* |
probably null |
Het |
Rpp40 |
A |
T |
13: 36,088,494 (GRCm39) |
L59Q |
probably damaging |
Het |
Rtca |
C |
A |
3: 116,286,741 (GRCm39) |
|
probably benign |
Het |
Rtkn |
C |
T |
6: 83,124,853 (GRCm39) |
Q108* |
probably null |
Het |
Shoc1 |
A |
C |
4: 59,094,274 (GRCm39) |
I150S |
possibly damaging |
Het |
Sirt6 |
C |
T |
10: 81,463,375 (GRCm39) |
|
probably benign |
Het |
Slc9a4 |
G |
A |
1: 40,649,537 (GRCm39) |
V517M |
probably benign |
Het |
Smarca2 |
G |
T |
19: 26,655,712 (GRCm39) |
|
probably benign |
Het |
Snx33 |
A |
T |
9: 56,833,735 (GRCm39) |
D111E |
probably benign |
Het |
Tgfb1 |
T |
C |
7: 25,403,621 (GRCm39) |
I311T |
probably damaging |
Het |
Tgfb2 |
C |
T |
1: 186,362,806 (GRCm39) |
|
probably null |
Het |
Tmem232 |
T |
C |
17: 65,563,384 (GRCm39) |
T670A |
probably benign |
Het |
Tnfsf4 |
T |
C |
1: 161,223,213 (GRCm39) |
F21L |
possibly damaging |
Het |
Ubr5 |
T |
C |
15: 38,047,837 (GRCm39) |
T47A |
probably benign |
Het |
Unc79 |
T |
C |
12: 103,139,785 (GRCm39) |
V2515A |
possibly damaging |
Het |
Utp6 |
T |
C |
11: 79,844,450 (GRCm39) |
K192E |
probably damaging |
Het |
Vmn2r102 |
T |
C |
17: 19,914,328 (GRCm39) |
F631S |
possibly damaging |
Het |
Zfp516 |
A |
C |
18: 82,974,038 (GRCm39) |
I79L |
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 |
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 |
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 |
2016-08-02 |