Incidental Mutation 'R2362:Clk3'
| ID |
247189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clk3
|
| Ensembl Gene |
ENSMUSG00000032316 |
| Gene Name |
CDC-like kinase 3 |
| Synonyms |
|
| MMRRC Submission |
040343-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.500)
|
| Stock # |
R2362 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
57657904-57672397 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57661902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 382
(I382V)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000065330
AA Change: I382V
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000067341
Gene: ENSMUSG00000032316
AA Change: I382V
| 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: I247V
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000215333
AA Change: I40V
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217409
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216095
|
| Meta Mutation Damage Score |
0.1510 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
100% (35/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
A |
T |
6: 132,604,442 (GRCm39) |
M1K |
probably null |
Het |
| Aadat |
A |
G |
8: 60,985,332 (GRCm39) |
|
probably benign |
Het |
| Acsm5 |
T |
C |
7: 119,127,649 (GRCm39) |
|
probably benign |
Het |
| Avl9 |
A |
T |
6: 56,713,555 (GRCm39) |
N271I |
probably benign |
Het |
| Ccdc30 |
T |
A |
4: 119,181,253 (GRCm39) |
N636I |
probably damaging |
Het |
| Cdr2 |
T |
G |
7: 120,569,554 (GRCm39) |
I62L |
possibly damaging |
Het |
| Ceacam23 |
T |
G |
7: 17,636,398 (GRCm39) |
|
noncoding transcript |
Het |
| Ctsr |
T |
A |
13: 61,310,610 (GRCm39) |
E45V |
probably damaging |
Het |
| Cyp2b19 |
A |
G |
7: 26,463,802 (GRCm39) |
Y318C |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,878,745 (GRCm39) |
N578S |
probably damaging |
Het |
| Dlg5 |
A |
T |
14: 24,208,755 (GRCm39) |
M817K |
probably benign |
Het |
| Dtx4 |
A |
G |
19: 12,469,899 (GRCm39) |
V76A |
probably damaging |
Het |
| Eps15 |
T |
C |
4: 109,218,427 (GRCm39) |
V430A |
probably benign |
Het |
| Fhip2b |
A |
G |
14: 70,823,805 (GRCm39) |
Y568H |
probably benign |
Het |
| Fxyd5 |
T |
C |
7: 30,735,896 (GRCm39) |
N104S |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,861,311 (GRCm39) |
D193G |
probably damaging |
Het |
| Lrrcc1 |
A |
G |
3: 14,628,084 (GRCm39) |
E542G |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,411,393 (GRCm39) |
|
probably benign |
Het |
| Ndst3 |
T |
A |
3: 123,346,327 (GRCm39) |
Y234F |
possibly damaging |
Het |
| Or5b120 |
A |
T |
19: 13,479,872 (GRCm39) |
H55L |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,927,123 (GRCm39) |
F429S |
probably damaging |
Het |
| Polr3e |
C |
G |
7: 120,541,787 (GRCm39) |
D623E |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,585,098 (GRCm39) |
Y1494H |
probably damaging |
Het |
| Rbm14 |
T |
C |
19: 4,851,735 (GRCm39) |
|
probably benign |
Het |
| Rnf103 |
A |
G |
6: 71,487,001 (GRCm39) |
D544G |
probably benign |
Het |
| Slc10a7 |
A |
G |
8: 79,236,261 (GRCm39) |
I20V |
probably damaging |
Het |
| Sort1 |
C |
T |
3: 108,253,981 (GRCm39) |
T549I |
possibly damaging |
Het |
| Stambpl1 |
G |
A |
19: 34,213,754 (GRCm39) |
V328I |
probably benign |
Het |
| Thbd |
A |
G |
2: 148,248,284 (GRCm39) |
L528P |
probably damaging |
Het |
| Wbp11 |
A |
T |
6: 136,801,330 (GRCm39) |
M63K |
probably damaging |
Het |
| Wdr11 |
T |
A |
7: 129,236,560 (GRCm39) |
I1178N |
probably benign |
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 |
|
IGL01654:Clk3
|
APN |
9 |
57,659,046 (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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAACCTTTCAGCCAGACG -3'
(R):5'- CAGTTCTTGCTAAGCACATGGG -3'
Sequencing Primer
(F):5'- CTAGGCCTGTAAGACCTTGTAGAATG -3'
(R):5'- ACATGGGTGTGGTAGTGGATTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation