Incidental Mutation 'IGL02812:Clk1'
| ID |
360639 |
| 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 # |
IGL02812
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
58451147-58463247 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58453635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 317
(N317I)
|
| 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: N317I
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034868
Gene: ENSMUSG00000026034
AA Change: N317I
| 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: ENSMUST00000156931
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186552
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
T |
10: 79,841,881 (GRCm39) |
V1005L |
possibly damaging |
Het |
| Abcc9 |
A |
G |
6: 142,643,516 (GRCm39) |
S11P |
possibly damaging |
Het |
| Acsl1 |
A |
T |
8: 46,945,873 (GRCm39) |
E2V |
possibly damaging |
Het |
| Aox3 |
G |
A |
1: 58,205,055 (GRCm39) |
V757I |
probably benign |
Het |
| Aqp4 |
T |
C |
18: 15,530,632 (GRCm39) |
|
probably null |
Het |
| Arhgef7 |
A |
G |
8: 11,831,245 (GRCm39) |
|
probably benign |
Het |
| Armc9 |
T |
A |
1: 86,172,293 (GRCm39) |
D2E |
probably damaging |
Het |
| Celsr2 |
G |
A |
3: 108,321,429 (GRCm39) |
P461L |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,570,080 (GRCm39) |
D1339G |
probably damaging |
Het |
| Comp |
G |
A |
8: 70,829,337 (GRCm39) |
G305S |
possibly damaging |
Het |
| Depdc5 |
G |
A |
5: 33,050,712 (GRCm39) |
|
probably benign |
Het |
| Dse |
T |
C |
10: 34,059,712 (GRCm39) |
E131G |
probably damaging |
Het |
| Ecpas |
T |
A |
4: 58,864,343 (GRCm39) |
|
probably benign |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Epha2 |
A |
G |
4: 141,046,230 (GRCm39) |
|
probably benign |
Het |
| Fam243 |
A |
G |
16: 92,117,616 (GRCm39) |
I224T |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,087,592 (GRCm39) |
|
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,231,624 (GRCm39) |
N321D |
probably damaging |
Het |
| Gm5884 |
A |
G |
6: 128,622,738 (GRCm39) |
|
noncoding transcript |
Het |
| Gp2 |
A |
T |
7: 119,051,452 (GRCm39) |
N254K |
probably benign |
Het |
| Hgh1 |
T |
A |
15: 76,253,754 (GRCm39) |
|
probably null |
Het |
| Inpp5f |
A |
G |
7: 128,284,030 (GRCm39) |
N543S |
probably damaging |
Het |
| Ints7 |
T |
C |
1: 191,351,853 (GRCm39) |
V854A |
probably damaging |
Het |
| Itgb1bp1 |
T |
G |
12: 21,320,879 (GRCm39) |
|
probably benign |
Het |
| Lrrtm4 |
A |
T |
6: 79,998,947 (GRCm39) |
N120Y |
probably damaging |
Het |
| Map3k5 |
T |
C |
10: 19,900,782 (GRCm39) |
S319P |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,318 (GRCm39) |
L265S |
probably damaging |
Het |
| Morc1 |
T |
C |
16: 48,378,869 (GRCm39) |
|
probably benign |
Het |
| Mre11a |
T |
A |
9: 14,701,966 (GRCm39) |
|
probably null |
Het |
| Msh4 |
T |
C |
3: 153,607,037 (GRCm39) |
|
probably benign |
Het |
| Mterf4 |
A |
G |
1: 93,232,455 (GRCm39) |
L132P |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,368,005 (GRCm39) |
E255V |
probably benign |
Het |
| Myot |
T |
C |
18: 44,479,127 (GRCm39) |
V288A |
probably damaging |
Het |
| Nipa2 |
T |
C |
7: 55,592,766 (GRCm39) |
Y53C |
probably damaging |
Het |
| Npas1 |
T |
A |
7: 16,190,041 (GRCm39) |
I502F |
probably damaging |
Het |
| Or12j5 |
C |
T |
7: 140,083,533 (GRCm39) |
V280M |
probably damaging |
Het |
| Or2y1d |
T |
A |
11: 49,321,749 (GRCm39) |
W149R |
probably damaging |
Het |
| Osbp2 |
A |
G |
11: 3,664,637 (GRCm39) |
V565A |
probably benign |
Het |
| Otof |
A |
G |
5: 30,531,426 (GRCm39) |
S1666P |
probably benign |
Het |
| Per3 |
A |
C |
4: 151,108,927 (GRCm39) |
S476A |
probably damaging |
Het |
| Pja2 |
T |
C |
17: 64,604,789 (GRCm39) |
N465D |
probably damaging |
Het |
| Pla2g4c |
T |
C |
7: 13,082,290 (GRCm39) |
F512S |
probably damaging |
Het |
| Plcd4 |
T |
A |
1: 74,596,967 (GRCm39) |
L403Q |
probably damaging |
Het |
| Psg26 |
T |
C |
7: 18,209,080 (GRCm39) |
T443A |
probably benign |
Het |
| Snapc4 |
T |
A |
2: 26,259,384 (GRCm39) |
T589S |
probably benign |
Het |
| Spag8 |
G |
A |
4: 43,651,755 (GRCm39) |
R404W |
probably damaging |
Het |
| Tdrd7 |
A |
G |
4: 45,994,406 (GRCm39) |
D268G |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,213,151 (GRCm39) |
H325R |
possibly damaging |
Het |
| Vmn1r59 |
C |
T |
7: 5,457,176 (GRCm39) |
V195I |
probably damaging |
Het |
| Vmn1r67 |
G |
A |
7: 10,180,945 (GRCm39) |
E70K |
probably benign |
Het |
| Wdr18 |
T |
A |
10: 79,796,898 (GRCm39) |
N91K |
possibly damaging |
Het |
| Zbtb7b |
T |
C |
3: 89,287,081 (GRCm39) |
T463A |
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 |
|
|
IGL02621:Clk1
|
APN |
1 |
58,453,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation