Incidental Mutation 'IGL01152:Clk1'
ID |
50362 |
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 # |
IGL01152
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
58451147-58463247 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58452611 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 359
(C359S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034868]
[ENSMUST00000151338]
[ENSMUST00000148330]
|
AlphaFold |
P22518 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034868
AA Change: C359S
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000034868 Gene: ENSMUSG00000026034 AA Change: C359S
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: 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 |
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 |
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730013G03Rik |
T |
G |
1: 192,515,947 (GRCm39) |
|
noncoding transcript |
Het |
Abcb4 |
G |
A |
5: 9,000,678 (GRCm39) |
V1031M |
probably benign |
Het |
Abcc4 |
A |
G |
14: 118,836,797 (GRCm39) |
S655P |
probably damaging |
Het |
Actn1 |
T |
C |
12: 80,245,820 (GRCm39) |
K121R |
probably damaging |
Het |
Aldh1l2 |
T |
A |
10: 83,358,750 (GRCm39) |
R82* |
probably null |
Het |
Arhgap31 |
T |
A |
16: 38,422,601 (GRCm39) |
H1155L |
possibly damaging |
Het |
Atp8a1 |
G |
T |
5: 68,004,549 (GRCm39) |
P2Q |
probably damaging |
Het |
Bcs1l |
A |
G |
1: 74,631,174 (GRCm39) |
M401V |
possibly damaging |
Het |
Brca2 |
A |
T |
5: 150,465,855 (GRCm39) |
N1873I |
probably damaging |
Het |
Cenpj |
T |
C |
14: 56,789,757 (GRCm39) |
N764S |
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Clk2 |
T |
A |
3: 89,083,818 (GRCm39) |
F479I |
probably damaging |
Het |
Cul4b |
T |
C |
X: 37,632,247 (GRCm39) |
M709V |
probably damaging |
Het |
D130052B06Rik |
G |
T |
11: 33,573,620 (GRCm39) |
|
probably null |
Het |
Dgkb |
T |
A |
12: 38,134,233 (GRCm39) |
N46K |
probably damaging |
Het |
Dnah9 |
C |
T |
11: 65,962,882 (GRCm39) |
R1811H |
probably damaging |
Het |
Dnajc18 |
T |
C |
18: 35,813,926 (GRCm39) |
N281S |
probably benign |
Het |
Galnt5 |
A |
T |
2: 57,915,405 (GRCm39) |
I654L |
probably benign |
Het |
Gm9989 |
T |
G |
3: 81,829,518 (GRCm39) |
|
noncoding transcript |
Het |
Gpr179 |
T |
C |
11: 97,228,237 (GRCm39) |
E1306G |
probably benign |
Het |
Gsc |
C |
A |
12: 104,437,864 (GRCm39) |
K219N |
probably damaging |
Het |
Gsx2 |
A |
T |
5: 75,236,452 (GRCm39) |
I11F |
probably damaging |
Het |
Igdcc4 |
A |
C |
9: 65,042,446 (GRCm39) |
E121A |
probably damaging |
Het |
Lama2 |
C |
T |
10: 27,084,425 (GRCm39) |
R915H |
probably benign |
Het |
Large2 |
A |
G |
2: 92,200,984 (GRCm39) |
L64P |
probably damaging |
Het |
Lztr1 |
C |
A |
16: 17,340,317 (GRCm39) |
Q136K |
probably damaging |
Het |
Mageb18 |
A |
G |
X: 91,163,430 (GRCm39) |
W271R |
possibly damaging |
Het |
Magoh |
A |
C |
4: 107,742,203 (GRCm39) |
|
probably benign |
Het |
Matcap2 |
A |
T |
9: 22,346,460 (GRCm39) |
H356L |
probably benign |
Het |
Mrgprx1 |
T |
C |
7: 47,671,234 (GRCm39) |
H171R |
probably benign |
Het |
Muc1 |
C |
A |
3: 89,138,061 (GRCm39) |
T301K |
probably benign |
Het |
Nbas |
C |
T |
12: 13,410,959 (GRCm39) |
L868F |
probably damaging |
Het |
Nwd2 |
A |
G |
5: 63,963,872 (GRCm39) |
D1152G |
possibly damaging |
Het |
Or5p68 |
C |
T |
7: 107,946,156 (GRCm39) |
A11T |
probably benign |
Het |
Or7d10 |
G |
A |
9: 19,832,245 (GRCm39) |
V247M |
possibly damaging |
Het |
Ovgp1 |
T |
A |
3: 105,893,488 (GRCm39) |
D420E |
possibly damaging |
Het |
Pacsin3 |
A |
G |
2: 91,094,121 (GRCm39) |
D350G |
probably benign |
Het |
Pcolce2 |
A |
T |
9: 95,574,976 (GRCm39) |
N309Y |
probably damaging |
Het |
Pim2 |
C |
A |
X: 7,744,661 (GRCm39) |
|
probably benign |
Het |
Plcb1 |
A |
G |
2: 134,655,579 (GRCm39) |
Y53C |
probably damaging |
Het |
Pogk |
T |
C |
1: 166,236,047 (GRCm39) |
E18G |
probably damaging |
Het |
Pxdn |
T |
A |
12: 30,051,936 (GRCm39) |
D704E |
probably damaging |
Het |
Rb1 |
C |
A |
14: 73,443,310 (GRCm39) |
S781I |
probably damaging |
Het |
Rnpepl1 |
A |
G |
1: 92,843,621 (GRCm39) |
H247R |
possibly damaging |
Het |
Scube1 |
A |
T |
15: 83,497,771 (GRCm39) |
F697I |
probably damaging |
Het |
Sel1l3 |
G |
T |
5: 53,273,675 (GRCm39) |
H1064N |
probably damaging |
Het |
Serinc3 |
A |
G |
2: 163,478,831 (GRCm39) |
Y99H |
probably damaging |
Het |
Slc36a2 |
T |
A |
11: 55,060,673 (GRCm39) |
|
probably benign |
Het |
Smarcc1 |
A |
C |
9: 109,968,693 (GRCm39) |
E130A |
possibly damaging |
Het |
Strc |
A |
G |
2: 121,201,276 (GRCm39) |
M1273T |
probably benign |
Het |
Tmem116 |
A |
G |
5: 121,601,862 (GRCm39) |
I21V |
probably benign |
Het |
Tmem190 |
T |
C |
7: 4,787,025 (GRCm39) |
|
probably benign |
Het |
Trim63 |
C |
T |
4: 134,052,987 (GRCm39) |
A316V |
probably benign |
Het |
Ugt2b34 |
T |
C |
5: 87,049,062 (GRCm39) |
E321G |
probably damaging |
Het |
Zfat |
T |
A |
15: 67,982,353 (GRCm39) |
R1053S |
probably damaging |
Het |
|
Other mutations in Clk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2013-06-21 |