Incidental Mutation 'R6759:Clk4'
| ID |
531152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clk4
|
| Ensembl Gene |
ENSMUSG00000020385 |
| Gene Name |
CDC like kinase 4 |
| Synonyms |
|
| MMRRC Submission |
044875-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.738)
|
| Stock # |
R6759 (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 51166401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 94
(I94M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093132]
[ENSMUST00000109111]
[ENSMUST00000109113]
[ENSMUST00000126131]
[ENSMUST00000130641]
[ENSMUST00000148053]
[ENSMUST00000153414]
|
| AlphaFold |
O35493 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093132
AA Change: I274M
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090820
Gene: ENSMUSG00000020385
AA Change: I274M
| 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 |
possibly damaging
Transcript: ENSMUST00000109111
AA Change: I94M
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104739
Gene: ENSMUSG00000020385
AA Change: I94M
| 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 |
possibly damaging
Transcript: ENSMUST00000109113
AA Change: I94M
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104741
Gene: ENSMUSG00000020385
AA Change: I94M
| 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 |
probably benign
Transcript: ENSMUST00000130641
|
| SMART Domains |
Protein: ENSMUSP00000123133
Gene: ENSMUSG00000020385
| 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: ENSMUST00000136587
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140628
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148467
|
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000177296
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (49/50) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,331,692 (GRCm39) |
S841G |
probably benign |
Het |
| 4933427I04Rik |
G |
T |
4: 123,753,879 (GRCm39) |
|
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,921,399 (GRCm39) |
T199A |
probably damaging |
Het |
| Acnat2 |
C |
A |
4: 49,380,254 (GRCm39) |
V375L |
probably benign |
Het |
| Aldh1a7 |
T |
C |
19: 20,677,320 (GRCm39) |
T434A |
possibly damaging |
Het |
| Aldh3a2 |
T |
C |
11: 61,156,088 (GRCm39) |
T63A |
probably benign |
Het |
| Anxa2 |
T |
C |
9: 69,391,103 (GRCm39) |
S97P |
probably damaging |
Het |
| Apip |
T |
C |
2: 102,922,191 (GRCm39) |
S186P |
probably benign |
Het |
| Apob |
A |
G |
12: 8,061,049 (GRCm39) |
K3177R |
probably benign |
Het |
| Atm |
C |
T |
9: 53,429,859 (GRCm39) |
W392* |
probably null |
Het |
| Atp8b1 |
T |
A |
18: 64,679,161 (GRCm39) |
R773S |
probably benign |
Het |
| Bicdl2 |
T |
A |
17: 23,885,718 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
C |
T |
3: 37,042,234 (GRCm39) |
T2740I |
possibly damaging |
Het |
| Cacng3 |
G |
A |
7: 122,361,547 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
G |
T |
3: 144,455,450 (GRCm39) |
L448M |
probably damaging |
Het |
| Cnot3 |
G |
T |
7: 3,654,918 (GRCm39) |
V124F |
probably damaging |
Het |
| Cyp4a30b |
C |
T |
4: 115,318,571 (GRCm39) |
A426V |
probably benign |
Het |
| Dact1 |
T |
A |
12: 71,364,911 (GRCm39) |
L564* |
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,882,266 (GRCm39) |
|
probably null |
Het |
| Dock5 |
T |
A |
14: 68,033,445 (GRCm39) |
T975S |
probably benign |
Het |
| Dock8 |
C |
A |
19: 25,104,848 (GRCm39) |
H739Q |
probably damaging |
Het |
| Efr3b |
T |
A |
12: 4,034,613 (GRCm39) |
N186Y |
probably damaging |
Het |
| Enam |
G |
A |
5: 88,649,550 (GRCm39) |
G278D |
probably damaging |
Het |
| Fgl2 |
A |
G |
5: 21,578,256 (GRCm39) |
D181G |
probably benign |
Het |
| Gfra3 |
G |
T |
18: 34,828,926 (GRCm39) |
S156* |
probably null |
Het |
| Jam3 |
G |
C |
9: 27,013,276 (GRCm39) |
T98S |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,834,184 (GRCm39) |
I1435N |
probably damaging |
Het |
| Man2a1 |
G |
A |
17: 64,932,383 (GRCm39) |
A157T |
probably benign |
Het |
| Mcm3ap |
T |
A |
10: 76,337,148 (GRCm39) |
V1361E |
probably benign |
Het |
| Nobox |
A |
T |
6: 43,284,538 (GRCm39) |
L36Q |
possibly damaging |
Het |
| Or2ag12 |
T |
A |
7: 106,277,100 (GRCm39) |
M198L |
probably benign |
Het |
| Or51a10 |
A |
G |
7: 103,699,334 (GRCm39) |
S76P |
probably damaging |
Het |
| Parp4 |
G |
A |
14: 56,857,947 (GRCm39) |
V860I |
probably benign |
Het |
| Pim3 |
T |
A |
15: 88,747,296 (GRCm39) |
|
probably null |
Het |
| Ptpn13 |
A |
T |
5: 103,713,121 (GRCm39) |
N1748I |
possibly damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,145 (GRCm39) |
T356A |
possibly damaging |
Het |
| Ranbp2 |
C |
T |
10: 58,293,559 (GRCm39) |
R310* |
probably null |
Het |
| Rassf5 |
C |
T |
1: 131,109,988 (GRCm39) |
V190I |
probably benign |
Het |
| Rgl1 |
T |
G |
1: 152,409,281 (GRCm39) |
Q481P |
probably damaging |
Het |
| Rrp1b |
A |
G |
17: 32,276,063 (GRCm39) |
T537A |
probably benign |
Het |
| Smok3c |
T |
A |
5: 138,063,699 (GRCm39) |
S395R |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Strn4 |
A |
T |
7: 16,556,978 (GRCm39) |
E145V |
probably damaging |
Het |
| Tex21 |
T |
A |
12: 76,251,086 (GRCm39) |
|
probably null |
Het |
| Usp37 |
G |
A |
1: 74,534,908 (GRCm39) |
R13* |
probably null |
Het |
| Uty |
G |
T |
Y: 1,174,735 (GRCm39) |
L222I |
probably damaging |
Homo |
| Wwp2 |
A |
G |
8: 108,267,314 (GRCm39) |
T309A |
probably damaging |
Het |
| Zfp40 |
C |
T |
17: 23,395,510 (GRCm39) |
R359H |
possibly 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 |
|
R6274:Clk4
|
UTSW |
11 |
51,162,748 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6480:Clk4
|
UTSW |
11 |
51,161,373 (GRCm39) |
nonsense |
probably null |
|
|
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'- TTAGCCGATGCGTCCAGATG -3'
(R):5'- TCCTCATTCAAGGATCCCCAAG -3'
Sequencing Primer
(F):5'- ATGCGTCCAGATGCTAGAGTG -3'
(R):5'- TTCAAGGATCCCCAAGCTAAATTAAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation