Incidental Mutation 'IGL01516:Clk1'
| ID |
90410 |
| 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 # |
IGL01516
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
58451147-58463247 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58453563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 341
(T341I)
|
| 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: T341I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034868
Gene: ENSMUSG00000026034
AA Change: T341I
| 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: ENSMUST00000141570
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156931
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186552
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
G |
13: 59,838,548 (GRCm39) |
S95P |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,109,043 (GRCm39) |
H709L |
possibly damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,060,172 (GRCm39) |
Y455C |
probably benign |
Het |
| Corin |
A |
T |
5: 72,611,830 (GRCm39) |
Y77* |
probably null |
Het |
| Cps1 |
C |
T |
1: 67,269,443 (GRCm39) |
R1481C |
probably damaging |
Het |
| Cspg5 |
A |
G |
9: 110,075,761 (GRCm39) |
K166E |
probably benign |
Het |
| Dcxr |
A |
G |
11: 120,616,584 (GRCm39) |
|
probably null |
Het |
| Epha5 |
C |
A |
5: 84,534,135 (GRCm39) |
L65F |
probably damaging |
Het |
| Erbb4 |
T |
A |
1: 68,367,404 (GRCm39) |
K438* |
probably null |
Het |
| Gldc |
A |
T |
19: 30,076,432 (GRCm39) |
C1005S |
probably damaging |
Het |
| Hs3st5 |
C |
T |
10: 36,709,047 (GRCm39) |
T194I |
probably damaging |
Het |
| Hspa12a |
T |
A |
19: 58,816,108 (GRCm39) |
D45V |
probably benign |
Het |
| Il1rn |
C |
T |
2: 24,239,551 (GRCm39) |
T130I |
probably damaging |
Het |
| Klk1b22 |
G |
T |
7: 43,765,732 (GRCm39) |
C196F |
probably damaging |
Het |
| Lamp1 |
C |
T |
8: 13,223,863 (GRCm39) |
H332Y |
probably damaging |
Het |
| Limd2 |
T |
C |
11: 106,049,870 (GRCm39) |
T40A |
probably benign |
Het |
| Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
| Mbd4 |
T |
C |
6: 115,826,491 (GRCm39) |
T167A |
probably damaging |
Het |
| Mitf |
T |
A |
6: 97,987,351 (GRCm39) |
|
probably null |
Het |
| Mlph |
A |
G |
1: 90,867,112 (GRCm39) |
D378G |
probably damaging |
Het |
| Mrgprb5 |
A |
T |
7: 47,818,132 (GRCm39) |
L201Q |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,760,266 (GRCm39) |
I261F |
probably damaging |
Het |
| Or8b3b |
C |
T |
9: 38,584,159 (GRCm39) |
V207I |
probably benign |
Het |
| Or9s23 |
A |
T |
1: 92,501,165 (GRCm39) |
I91F |
probably benign |
Het |
| Paics |
T |
A |
5: 77,104,578 (GRCm39) |
L68I |
probably damaging |
Het |
| Pramel15 |
A |
G |
4: 144,104,337 (GRCm39) |
V56A |
probably damaging |
Het |
| Prkca |
C |
T |
11: 107,852,428 (GRCm39) |
V102M |
probably null |
Het |
| Ptpn21 |
G |
A |
12: 98,681,448 (GRCm39) |
T62I |
probably damaging |
Het |
| Ptpre |
A |
T |
7: 135,266,728 (GRCm39) |
E212V |
probably damaging |
Het |
| Rufy2 |
A |
C |
10: 62,847,212 (GRCm39) |
K539Q |
possibly damaging |
Het |
| Serpinb9d |
T |
A |
13: 33,386,654 (GRCm39) |
|
probably null |
Het |
| Smarcd1 |
T |
C |
15: 99,610,094 (GRCm39) |
F442L |
probably benign |
Het |
| Tas2r115 |
A |
G |
6: 132,714,576 (GRCm39) |
V125A |
probably damaging |
Het |
| Tmem154 |
C |
T |
3: 84,591,897 (GRCm39) |
H120Y |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,786,823 (GRCm39) |
K1321E |
possibly damaging |
Het |
| Trmt13 |
A |
G |
3: 116,383,459 (GRCm39) |
|
probably benign |
Het |
| Tsbp1 |
A |
G |
17: 34,668,234 (GRCm39) |
D168G |
possibly damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,857 (GRCm39) |
F137L |
probably benign |
Het |
| Vmn1r202 |
T |
A |
13: 22,685,632 (GRCm39) |
T262S |
possibly damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,370 (GRCm39) |
V793A |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,038 (GRCm39) |
N300S |
probably damaging |
Het |
| Xpot |
T |
A |
10: 121,426,127 (GRCm39) |
|
probably null |
Het |
| Zfp784 |
G |
A |
7: 5,039,036 (GRCm39) |
|
probably benign |
Het |
| Zfyve26 |
G |
T |
12: 79,334,625 (GRCm39) |
P131Q |
probably benign |
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 |
|
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 |
2013-12-09 |
Incidental Mutation