Incidental Mutation 'R6274:Clk4'
| ID |
507538 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clk4
|
| Ensembl Gene |
ENSMUSG00000020385 |
| Gene Name |
CDC like kinase 4 |
| Synonyms |
|
| MMRRC Submission |
044444-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.712)
|
| Stock # |
R6274 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
51153941-51172597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51162748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 98
(S98G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093132]
[ENSMUST00000109111]
[ENSMUST00000109113]
[ENSMUST00000126131]
[ENSMUST00000130641]
[ENSMUST00000153414]
[ENSMUST00000148053]
|
| AlphaFold |
O35493 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093132
AA Change: S95G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000090820
Gene: ENSMUSG00000020385
AA Change: S95G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
138 |
N/A |
INTRINSIC |
|
S_TKc
|
159 |
475 |
1.58e-76 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109111
|
| SMART Domains |
Protein: ENSMUSP00000104739
Gene: ENSMUSG00000020385
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
225 |
3.3e-20 |
PFAM |
|
Pfam:Pkinase
|
1 |
295 |
5.4e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109113
|
| SMART Domains |
Protein: ENSMUSP00000104741
Gene: ENSMUSG00000020385
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
225 |
3.3e-20 |
PFAM |
|
Pfam:Pkinase
|
1 |
295 |
5.4e-60 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126131
|
| SMART Domains |
Protein: ENSMUSP00000118972
Gene: ENSMUSG00000020385
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
74 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130641
AA Change: S98G
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000123133
Gene: ENSMUSG00000020385
AA Change: S98G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
141 |
N/A |
INTRINSIC |
|
PDB:2VAG|A
|
149 |
182 |
2e-14 |
PDB |
|
SCOP:d1howa_
|
149 |
182 |
2e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133200
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136587
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153414
|
| SMART Domains |
Protein: ENSMUSP00000115894
Gene: ENSMUSG00000020385
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148053
|
| SMART Domains |
Protein: ENSMUSP00000120822
Gene: ENSMUSG00000020385
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148467
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140628
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177296
|
| Meta Mutation Damage Score |
0.0591 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.1%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the CDC2-like protein kinase (CLK) family. This protein kinase can interact with and phosphorylate the serine- and arginine-rich (SR) proteins, which are known to play an important role in the formation of spliceosomes, and thus may be involved in the regulation of alternative splicing. Studies in the Israeli sand rat Psammomys obesus suggested that the ubiquitin-like 5 (UBL5/BEACON), a highly conserved ubiquitin-like protein, may interact with and regulate the activity of this kinase. Multiple alternatively spliced transcript variants have been observed, but the full-length natures of which have not yet been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Ano1 |
A |
T |
7: 144,172,600 (GRCm39) |
S528T |
probably benign |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Bcl2l10 |
T |
C |
9: 75,258,354 (GRCm39) |
I172T |
possibly damaging |
Het |
| Bpifb3 |
A |
T |
2: 153,771,243 (GRCm39) |
N385I |
possibly damaging |
Het |
| Bsnd |
A |
G |
4: 106,343,832 (GRCm39) |
V158A |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,016,783 (GRCm39) |
N481S |
probably benign |
Het |
| Cdk5rap1 |
A |
G |
2: 154,210,161 (GRCm39) |
V138A |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,366,069 (GRCm39) |
E1099G |
probably damaging |
Het |
| Cers1 |
T |
A |
8: 70,783,727 (GRCm39) |
L225Q |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,081,069 (GRCm39) |
Q7R |
probably benign |
Het |
| Clock |
A |
G |
5: 76,385,000 (GRCm39) |
S406P |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,484,833 (GRCm39) |
I3178V |
probably benign |
Het |
| Dock10 |
A |
G |
1: 80,516,540 (GRCm39) |
S1397P |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,871,188 (GRCm39) |
L1421P |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Greb1 |
G |
T |
12: 16,785,152 (GRCm39) |
T91K |
probably damaging |
Het |
| Grid2ip |
G |
A |
5: 143,366,184 (GRCm39) |
S379N |
probably damaging |
Het |
| Gucy1b2 |
A |
T |
14: 62,653,388 (GRCm39) |
C336S |
probably damaging |
Het |
| Hdac1 |
A |
G |
4: 129,412,902 (GRCm39) |
C261R |
probably damaging |
Het |
| Htt |
T |
C |
5: 35,009,431 (GRCm39) |
S1471P |
possibly damaging |
Het |
| Ice1 |
A |
G |
13: 70,742,958 (GRCm39) |
V2134A |
probably damaging |
Het |
| Ikzf1 |
C |
T |
11: 11,718,961 (GRCm39) |
Q310* |
probably null |
Het |
| Il3ra |
G |
A |
14: 14,350,180 (GRCm38) |
V112I |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,077,156 (GRCm39) |
I393V |
possibly damaging |
Het |
| Krt74 |
T |
C |
15: 101,671,872 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap29-1 |
T |
C |
11: 99,869,809 (GRCm39) |
N24S |
probably null |
Het |
| Mmut |
T |
C |
17: 41,267,136 (GRCm39) |
V570A |
probably benign |
Het |
| Myh7 |
T |
C |
14: 55,216,943 (GRCm39) |
D1138G |
probably damaging |
Het |
| Nktr |
T |
C |
9: 121,560,631 (GRCm39) |
I125T |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,320,554 (GRCm39) |
L861Q |
probably damaging |
Het |
| Notch3 |
C |
A |
17: 32,366,264 (GRCm39) |
R990L |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,350,153 (GRCm39) |
D655G |
probably benign |
Het |
| Or10ak8 |
A |
T |
4: 118,774,427 (GRCm39) |
V79E |
probably benign |
Het |
| Or5b99 |
G |
A |
19: 12,977,234 (GRCm39) |
V295I |
probably damaging |
Het |
| Osbpl11 |
T |
A |
16: 33,047,426 (GRCm39) |
I463N |
probably damaging |
Het |
| Pcsk6 |
A |
T |
7: 65,683,592 (GRCm39) |
R749W |
probably damaging |
Het |
| Plaat5 |
C |
T |
19: 7,614,831 (GRCm39) |
T231I |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,941,209 (GRCm39) |
|
probably null |
Het |
| Polr1a |
T |
A |
6: 71,931,874 (GRCm39) |
|
probably null |
Het |
| Ppm1g |
T |
C |
5: 31,363,750 (GRCm39) |
I153V |
probably damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,096,751 (GRCm39) |
S191P |
probably benign |
Het |
| Prodh |
T |
C |
16: 17,898,922 (GRCm39) |
K178E |
possibly damaging |
Het |
| Rilpl2 |
A |
G |
5: 124,607,911 (GRCm39) |
V103A |
possibly damaging |
Het |
| Sap18b |
C |
T |
8: 96,552,169 (GRCm39) |
H60Y |
probably benign |
Het |
| Sclt1 |
A |
G |
3: 41,583,951 (GRCm39) |
|
probably null |
Het |
| Serpinb1a |
G |
T |
13: 33,026,849 (GRCm39) |
H364Q |
probably damaging |
Het |
| Sez6l |
G |
A |
5: 112,623,231 (GRCm39) |
Q107* |
probably null |
Het |
| Sipa1l2 |
C |
T |
8: 126,196,611 (GRCm39) |
V708I |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Uaca |
T |
A |
9: 60,757,573 (GRCm39) |
|
probably null |
Het |
| Uqcrc1 |
C |
A |
9: 108,771,224 (GRCm39) |
H95N |
probably damaging |
Het |
| Usp9y |
C |
T |
Y: 1,316,735 (GRCm39) |
R1938H |
probably damaging |
Homo |
| Wnk4 |
C |
T |
11: 101,156,257 (GRCm39) |
R42W |
probably damaging |
Het |
| Zfp326 |
T |
A |
5: 106,053,846 (GRCm39) |
L242Q |
probably damaging |
Het |
|
| Other mutations in Clk4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01368:Clk4
|
APN |
11 |
51,171,999 (GRCm39) |
nonsense |
probably null |
|
|
B6819:Clk4
|
UTSW |
11 |
51,166,593 (GRCm39) |
unclassified |
probably benign |
|
|
K7894:Clk4
|
UTSW |
11 |
51,166,593 (GRCm39) |
unclassified |
probably benign |
|
|
R0001:Clk4
|
UTSW |
11 |
51,159,592 (GRCm39) |
splice site |
probably benign |
|
|
R0466:Clk4
|
UTSW |
11 |
51,158,155 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0692:Clk4
|
UTSW |
11 |
51,172,155 (GRCm39) |
nonsense |
probably null |
|
|
R0719:Clk4
|
UTSW |
11 |
51,166,320 (GRCm39) |
nonsense |
probably null |
|
|
R0723:Clk4
|
UTSW |
11 |
51,166,320 (GRCm39) |
nonsense |
probably null |
|
|
R1277:Clk4
|
UTSW |
11 |
51,158,016 (GRCm39) |
missense |
probably benign |
|
|
R1714:Clk4
|
UTSW |
11 |
51,171,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4804:Clk4
|
UTSW |
11 |
51,172,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5141:Clk4
|
UTSW |
11 |
51,166,598 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5399:Clk4
|
UTSW |
11 |
51,166,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Clk4
|
UTSW |
11 |
51,159,009 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6480:Clk4
|
UTSW |
11 |
51,161,373 (GRCm39) |
nonsense |
probably null |
|
|
R6759:Clk4
|
UTSW |
11 |
51,166,401 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6843:Clk4
|
UTSW |
11 |
51,167,076 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7138:Clk4
|
UTSW |
11 |
51,168,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7186:Clk4
|
UTSW |
11 |
51,159,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7235:Clk4
|
UTSW |
11 |
51,167,012 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7687:Clk4
|
UTSW |
11 |
51,172,225 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7842:Clk4
|
UTSW |
11 |
51,171,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8073:Clk4
|
UTSW |
11 |
51,168,716 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8515:Clk4
|
UTSW |
11 |
51,166,088 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8516:Clk4
|
UTSW |
11 |
51,166,088 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGCTGTAGCAATTTAATATGGAC -3'
(R):5'- ACACAGGTGGTCAATTATGAGAATG -3'
Sequencing Primer
(F):5'- GTTTGAACCACATTATTCCAGAATG -3'
(R):5'- TCCTTTAAGGACTCCAGTAACATG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation