Incidental Mutation 'IGL01654:Clk3'
| ID |
102903 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clk3
|
| Ensembl Gene |
ENSMUSG00000032316 |
| Gene Name |
CDC-like kinase 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.459)
|
| Stock # |
IGL01654
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
57657904-57672397 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57659046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 572
(V572M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043990]
[ENSMUST00000065330]
[ENSMUST00000137245]
|
| AlphaFold |
O35492 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043990
|
| SMART Domains |
Protein: ENSMUSP00000049146
Gene: ENSMUSG00000038957
| Domain | Start | End | E-Value | Type |
|---|
|
LSM14
|
1 |
80 |
9.12e-20 |
SMART |
|
Pfam:Edc3_linker
|
102 |
197 |
1.9e-47 |
PFAM |
|
FDF
|
198 |
301 |
1.84e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065330
AA Change: V572M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067341
Gene: ENSMUSG00000032316
AA Change: V572M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
283 |
N/A |
INTRINSIC |
|
S_TKc
|
304 |
620 |
5.56e-72 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137245
|
| SMART Domains |
Protein: ENSMUSP00000123317
Gene: ENSMUSG00000038957
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LSM14
|
1 |
56 |
3e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213417
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215109
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000215233
AA Change: V437M
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000215333
AA Change: V240M
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216095
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217409
|
| 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 protein belonging to the serine/threonine type protein kinase family. This protein is a nuclear dual-specificity kinase that regulates the intranuclear distribution of the serine/arginine-rich (SR) family of splicing factors. Two transcript variants encoding different isoforms have been found for this gene. Related pseudogenes are located on chromosomes 1 and 9. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,854,838 (GRCm39) |
E68V |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,765,065 (GRCm39) |
|
probably null |
Het |
| Abcg2 |
T |
A |
6: 58,660,306 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
T |
C |
17: 43,762,061 (GRCm39) |
I1252T |
possibly damaging |
Het |
| Apol10b |
A |
T |
15: 77,472,996 (GRCm39) |
D19E |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,402,238 (GRCm39) |
|
probably null |
Het |
| Bod1l |
T |
C |
5: 41,975,519 (GRCm39) |
T1932A |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 143,027,133 (GRCm39) |
V124A |
probably benign |
Het |
| Cd151 |
T |
A |
7: 141,050,275 (GRCm39) |
I170N |
probably benign |
Het |
| Ckap5 |
C |
T |
2: 91,407,954 (GRCm39) |
H827Y |
probably benign |
Het |
| Ddrgk1 |
T |
C |
2: 130,496,629 (GRCm39) |
D245G |
probably damaging |
Het |
| Enpp5 |
A |
G |
17: 44,392,066 (GRCm39) |
D165G |
possibly damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Fbxw14 |
T |
C |
9: 109,115,648 (GRCm39) |
|
probably benign |
Het |
| Fes |
C |
T |
7: 80,036,558 (GRCm39) |
|
probably null |
Het |
| Gemin4 |
A |
T |
11: 76,104,224 (GRCm39) |
L179H |
probably damaging |
Het |
| Gm3327 |
A |
G |
14: 44,362,317 (GRCm39) |
E72G |
unknown |
Het |
| Gm4847 |
C |
T |
1: 166,465,917 (GRCm39) |
R224Q |
probably damaging |
Het |
| Lonp2 |
T |
C |
8: 87,440,714 (GRCm39) |
V357A |
probably damaging |
Het |
| Mc2r |
A |
G |
18: 68,541,143 (GRCm39) |
I50T |
probably benign |
Het |
| Mmp19 |
C |
T |
10: 128,634,389 (GRCm39) |
A310V |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,435,853 (GRCm39) |
R890Q |
probably benign |
Het |
| Npdc1 |
T |
C |
2: 25,297,649 (GRCm39) |
S101P |
possibly damaging |
Het |
| Phldb1 |
T |
C |
9: 44,629,654 (GRCm39) |
|
probably null |
Het |
| Pkd2l1 |
T |
C |
19: 44,142,662 (GRCm39) |
N460S |
probably damaging |
Het |
| Pnpo |
A |
G |
11: 96,834,555 (GRCm39) |
|
probably null |
Het |
| Prkcq |
A |
T |
2: 11,288,654 (GRCm39) |
T536S |
probably damaging |
Het |
| Rft1 |
T |
A |
14: 30,398,837 (GRCm39) |
V269E |
probably damaging |
Het |
| Skint4 |
A |
T |
4: 111,977,254 (GRCm39) |
I215F |
probably damaging |
Het |
| Slc12a5 |
G |
A |
2: 164,815,675 (GRCm39) |
D41N |
possibly damaging |
Het |
| Srp68 |
T |
C |
11: 116,138,638 (GRCm39) |
|
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,115,914 (GRCm39) |
T623A |
probably damaging |
Het |
| Zfand2a |
A |
G |
5: 139,467,823 (GRCm39) |
|
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,783,796 (GRCm39) |
Y917C |
probably damaging |
Het |
| Zmym6 |
C |
T |
4: 127,017,519 (GRCm39) |
S1008L |
probably damaging |
Het |
|
| Other mutations in Clk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01358:Clk3
|
APN |
9 |
57,661,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02506:Clk3
|
APN |
9 |
57,661,927 (GRCm39) |
nonsense |
probably null |
|
|
R0062:Clk3
|
UTSW |
9 |
57,659,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Clk3
|
UTSW |
9 |
57,659,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0731:Clk3
|
UTSW |
9 |
57,658,409 (GRCm39) |
unclassified |
probably benign |
|
|
R1944:Clk3
|
UTSW |
9 |
57,672,469 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2060:Clk3
|
UTSW |
9 |
57,658,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2362:Clk3
|
UTSW |
9 |
57,661,902 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4380:Clk3
|
UTSW |
9 |
57,659,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5395:Clk3
|
UTSW |
9 |
57,660,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5422:Clk3
|
UTSW |
9 |
57,672,721 (GRCm39) |
missense |
probably benign |
|
|
R6652:Clk3
|
UTSW |
9 |
57,669,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6828:Clk3
|
UTSW |
9 |
57,668,132 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6933:Clk3
|
UTSW |
9 |
57,669,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7343:Clk3
|
UTSW |
9 |
57,668,239 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7585:Clk3
|
UTSW |
9 |
57,669,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8395:Clk3
|
UTSW |
9 |
57,672,445 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation