Incidental Mutation 'IGL02621:Clk1'
| ID |
300864 |
| 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 # |
IGL02621
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
58451147-58463247 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58453614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 324
(D324G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034868]
[ENSMUST00000151338]
[ENSMUST00000148330]
|
| AlphaFold |
P22518 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034868
AA Change: D324G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034868
Gene: ENSMUSG00000026034
AA Change: D324G
| 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: ENSMUST00000141570
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156931
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002L01Rik |
C |
A |
12: 3,476,688 (GRCm39) |
|
probably benign |
Het |
| 2210408I21Rik |
T |
C |
13: 77,408,150 (GRCm39) |
I159T |
possibly damaging |
Het |
| Agpat3 |
T |
A |
10: 78,120,900 (GRCm39) |
I93F |
probably damaging |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Atr |
G |
A |
9: 95,790,453 (GRCm39) |
A1598T |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,095,633 (GRCm39) |
|
probably benign |
Het |
| Cntnap4 |
A |
T |
8: 113,537,355 (GRCm39) |
D742V |
probably damaging |
Het |
| Esrrb |
A |
G |
12: 86,468,735 (GRCm39) |
N16S |
probably benign |
Het |
| Grm1 |
A |
T |
10: 10,564,755 (GRCm39) |
Y1184* |
probably null |
Het |
| Hint1 |
G |
T |
11: 54,761,011 (GRCm39) |
|
probably benign |
Het |
| Itch |
A |
T |
2: 155,014,504 (GRCm39) |
|
probably null |
Het |
| Lmod3 |
T |
C |
6: 97,215,796 (GRCm39) |
|
probably benign |
Het |
| Map3k4 |
C |
A |
17: 12,482,900 (GRCm39) |
A606S |
probably damaging |
Het |
| Mapk4 |
A |
T |
18: 74,103,346 (GRCm39) |
S54R |
probably damaging |
Het |
| Megf11 |
A |
G |
9: 64,601,214 (GRCm39) |
D807G |
probably benign |
Het |
| Mgat5 |
A |
G |
1: 127,325,326 (GRCm39) |
T398A |
possibly damaging |
Het |
| Nme8 |
T |
G |
13: 19,859,818 (GRCm39) |
K28N |
probably damaging |
Het |
| Pamr1 |
A |
G |
2: 102,464,688 (GRCm39) |
N279S |
probably benign |
Het |
| Pcca |
A |
T |
14: 122,922,391 (GRCm39) |
D384V |
probably damaging |
Het |
| Prkag1 |
A |
T |
15: 98,711,909 (GRCm39) |
I239N |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,798,131 (GRCm39) |
T1375A |
probably benign |
Het |
| Ptk2 |
A |
C |
15: 73,077,994 (GRCm39) |
L1024R |
probably damaging |
Het |
| Rere |
G |
A |
4: 150,698,269 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,579,223 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,538,802 (GRCm39) |
|
probably benign |
Het |
| Shoc1 |
A |
T |
4: 59,062,668 (GRCm39) |
W863R |
probably damaging |
Het |
| Slc9a1 |
T |
A |
4: 133,097,879 (GRCm39) |
W9R |
probably benign |
Het |
| Slco1a5 |
T |
A |
6: 142,187,741 (GRCm39) |
M533L |
probably benign |
Het |
| Ttll4 |
T |
A |
1: 74,726,643 (GRCm39) |
S720T |
probably damaging |
Het |
| Vmn1r168 |
A |
T |
7: 23,240,780 (GRCm39) |
R212S |
probably damaging |
Het |
| Vmn2r114 |
T |
C |
17: 23,529,494 (GRCm39) |
I203V |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation