Incidental Mutation 'R8543:Cdk14'
ID |
659463 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdk14
|
Ensembl Gene |
ENSMUSG00000028926 |
Gene Name |
cyclin dependent kinase 14 |
Synonyms |
Pftk1 |
MMRRC Submission |
068508-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8543 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
4853384-5430251 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 5430079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 16
(M16K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030763
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030763]
[ENSMUST00000167567]
|
AlphaFold |
O35495 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030763
AA Change: M16K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000030763 Gene: ENSMUSG00000028926 AA Change: M16K
Domain | Start | End | E-Value | Type |
low complexity region
|
119 |
127 |
N/A |
INTRINSIC |
S_TKc
|
135 |
419 |
3.63e-85 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167567
|
SMART Domains |
Protein: ENSMUSP00000130895 Gene: ENSMUSG00000028926
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
149 |
157 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
96% (47/49) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PFTK1 is a member of the CDC2 (MIM 116940)-related protein kinase family (Yang and Chen, 2001 [PubMed 11313143]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf1 |
T |
A |
17: 43,624,097 (GRCm39) |
L839Q |
probably null |
Het |
Ampd1 |
T |
A |
3: 102,986,486 (GRCm39) |
F55Y |
possibly damaging |
Het |
Ank3 |
A |
G |
10: 69,838,266 (GRCm39) |
E891G |
probably damaging |
Het |
Ankrd13c |
A |
G |
3: 157,709,712 (GRCm39) |
|
probably null |
Het |
Ankrd63 |
A |
G |
2: 118,533,604 (GRCm39) |
|
probably benign |
Het |
Arhgap30 |
T |
C |
1: 171,232,530 (GRCm39) |
S392P |
probably damaging |
Het |
Arhgef11 |
A |
T |
3: 87,589,181 (GRCm39) |
K16M |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,872,860 (GRCm39) |
V373A |
probably damaging |
Het |
Blm |
A |
G |
7: 80,143,964 (GRCm39) |
M822T |
probably damaging |
Het |
Car15 |
T |
C |
16: 17,654,713 (GRCm39) |
N102D |
probably benign |
Het |
Cep350 |
A |
G |
1: 155,738,122 (GRCm39) |
Y2574H |
probably damaging |
Het |
Coro1a |
C |
A |
7: 126,301,188 (GRCm39) |
C104F |
probably damaging |
Het |
D130043K22Rik |
T |
A |
13: 25,073,852 (GRCm39) |
L977Q |
probably benign |
Het |
Dcaf1 |
T |
G |
9: 106,735,277 (GRCm39) |
S742A |
probably benign |
Het |
Dnajb11 |
A |
T |
16: 22,681,335 (GRCm39) |
I38L |
probably benign |
Het |
Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
Fat4 |
A |
C |
3: 39,031,643 (GRCm39) |
H2476P |
probably damaging |
Het |
Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
Gm14326 |
G |
A |
2: 177,587,452 (GRCm39) |
R515W |
probably damaging |
Het |
Gm49368 |
T |
C |
7: 127,679,433 (GRCm39) |
Y192H |
probably damaging |
Het |
Gm7579 |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
7: 141,765,782 (GRCm39) |
|
probably benign |
Het |
Gpr182 |
T |
C |
10: 127,586,861 (GRCm39) |
H30R |
probably benign |
Het |
Gprc5c |
T |
A |
11: 114,755,094 (GRCm39) |
V257E |
probably damaging |
Het |
Iars2 |
T |
C |
1: 185,019,341 (GRCm39) |
T982A |
probably benign |
Het |
Ighg2b |
C |
A |
12: 113,270,552 (GRCm39) |
A193S |
probably damaging |
Het |
Izumo1 |
T |
A |
7: 45,275,678 (GRCm39) |
V329E |
possibly damaging |
Het |
Kcnj6 |
A |
T |
16: 94,563,250 (GRCm39) |
V398E |
possibly damaging |
Het |
Lef1 |
T |
A |
3: 130,909,138 (GRCm39) |
N117K |
possibly damaging |
Het |
Ltbp4 |
T |
C |
7: 27,024,666 (GRCm39) |
S655G |
possibly damaging |
Het |
Magi3 |
A |
T |
3: 104,126,984 (GRCm39) |
I100N |
probably damaging |
Het |
Mettl17 |
G |
A |
14: 52,126,257 (GRCm39) |
A222T |
probably benign |
Het |
Notch4 |
A |
G |
17: 34,787,394 (GRCm39) |
E318G |
probably damaging |
Het |
Nqo2 |
A |
T |
13: 34,169,297 (GRCm39) |
|
probably null |
Het |
Or8k31-ps1 |
A |
T |
2: 86,356,386 (GRCm39) |
M45K |
probably damaging |
Het |
Ptpn18 |
T |
C |
1: 34,511,229 (GRCm39) |
S324P |
probably benign |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Rin1 |
A |
G |
19: 5,102,100 (GRCm39) |
D203G |
probably damaging |
Het |
Serpinb9c |
T |
A |
13: 33,340,417 (GRCm39) |
E128V |
probably damaging |
Het |
Slc3a1 |
C |
A |
17: 85,335,925 (GRCm39) |
N22K |
probably benign |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Tmco4 |
G |
T |
4: 138,781,251 (GRCm39) |
V472L |
probably benign |
Het |
Tmem132d |
T |
C |
5: 128,345,799 (GRCm39) |
E241G |
probably benign |
Het |
Trim17 |
T |
A |
11: 58,862,281 (GRCm39) |
S438T |
probably damaging |
Het |
Trmt44 |
T |
C |
5: 35,732,374 (GRCm39) |
R6G |
probably benign |
Het |
Vcl |
G |
T |
14: 21,045,127 (GRCm39) |
L277F |
probably benign |
Het |
Vmn2r68 |
C |
T |
7: 84,883,648 (GRCm39) |
M152I |
probably benign |
Het |
Vmn2r94 |
C |
T |
17: 18,463,984 (GRCm39) |
V769I |
possibly damaging |
Het |
Vps13d |
G |
T |
4: 144,743,353 (GRCm39) |
S3027* |
probably null |
Het |
Zfp282 |
A |
G |
6: 47,881,561 (GRCm39) |
Q416R |
probably benign |
Het |
Zfp668 |
A |
G |
7: 127,466,392 (GRCm39) |
L264P |
probably damaging |
Het |
Zfp747 |
A |
G |
7: 126,973,655 (GRCm39) |
Y172H |
probably damaging |
Het |
|
Other mutations in Cdk14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00678:Cdk14
|
APN |
5 |
5,299,237 (GRCm39) |
splice site |
probably benign |
|
IGL01376:Cdk14
|
APN |
5 |
5,060,839 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02102:Cdk14
|
APN |
5 |
5,430,083 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02179:Cdk14
|
APN |
5 |
5,153,845 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02423:Cdk14
|
APN |
5 |
4,938,905 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03081:Cdk14
|
APN |
5 |
4,999,527 (GRCm39) |
splice site |
probably benign |
|
IGL02988:Cdk14
|
UTSW |
5 |
5,086,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R0465:Cdk14
|
UTSW |
5 |
5,143,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R0630:Cdk14
|
UTSW |
5 |
5,185,422 (GRCm39) |
splice site |
probably benign |
|
R1452:Cdk14
|
UTSW |
5 |
4,938,927 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1601:Cdk14
|
UTSW |
5 |
5,185,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R1629:Cdk14
|
UTSW |
5 |
5,153,807 (GRCm39) |
missense |
probably benign |
0.18 |
R1659:Cdk14
|
UTSW |
5 |
4,999,571 (GRCm39) |
missense |
probably benign |
0.08 |
R1809:Cdk14
|
UTSW |
5 |
5,060,901 (GRCm39) |
missense |
probably damaging |
0.98 |
R2013:Cdk14
|
UTSW |
5 |
5,143,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R2015:Cdk14
|
UTSW |
5 |
5,430,082 (GRCm39) |
missense |
probably benign |
|
R2256:Cdk14
|
UTSW |
5 |
4,938,924 (GRCm39) |
missense |
probably benign |
|
R2257:Cdk14
|
UTSW |
5 |
4,938,924 (GRCm39) |
missense |
probably benign |
|
R2908:Cdk14
|
UTSW |
5 |
5,299,051 (GRCm39) |
missense |
probably benign |
0.33 |
R4324:Cdk14
|
UTSW |
5 |
5,086,532 (GRCm39) |
nonsense |
probably null |
|
R4432:Cdk14
|
UTSW |
5 |
5,086,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R4907:Cdk14
|
UTSW |
5 |
5,299,140 (GRCm39) |
missense |
probably damaging |
0.96 |
R5426:Cdk14
|
UTSW |
5 |
4,938,975 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5708:Cdk14
|
UTSW |
5 |
5,316,036 (GRCm39) |
intron |
probably benign |
|
R6006:Cdk14
|
UTSW |
5 |
5,299,211 (GRCm39) |
start codon destroyed |
probably null |
0.33 |
R6120:Cdk14
|
UTSW |
5 |
4,944,029 (GRCm39) |
missense |
probably damaging |
0.96 |
R7048:Cdk14
|
UTSW |
5 |
5,143,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R7104:Cdk14
|
UTSW |
5 |
5,245,325 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7712:Cdk14
|
UTSW |
5 |
5,430,061 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8046:Cdk14
|
UTSW |
5 |
5,299,159 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8121:Cdk14
|
UTSW |
5 |
5,277,195 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8195:Cdk14
|
UTSW |
5 |
5,277,159 (GRCm39) |
splice site |
probably null |
|
R8279:Cdk14
|
UTSW |
5 |
5,316,125 (GRCm39) |
intron |
probably benign |
|
R8312:Cdk14
|
UTSW |
5 |
4,944,141 (GRCm39) |
missense |
probably benign |
0.03 |
R8728:Cdk14
|
UTSW |
5 |
5,470,117 (GRCm39) |
synonymous |
silent |
|
R8862:Cdk14
|
UTSW |
5 |
5,060,862 (GRCm39) |
missense |
probably benign |
0.01 |
R8914:Cdk14
|
UTSW |
5 |
5,086,515 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8956:Cdk14
|
UTSW |
5 |
5,277,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R9111:Cdk14
|
UTSW |
5 |
5,315,985 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9649:Cdk14
|
UTSW |
5 |
5,423,477 (GRCm39) |
missense |
probably benign |
0.07 |
R9796:Cdk14
|
UTSW |
5 |
5,316,012 (GRCm39) |
missense |
probably benign |
0.10 |
Z1176:Cdk14
|
UTSW |
5 |
5,185,322 (GRCm39) |
nonsense |
probably null |
|
Z1177:Cdk14
|
UTSW |
5 |
4,938,894 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCTTAAGACAGTCCACGAAC -3'
(R):5'- GCTCTTGCTTACAAAGGAGGG -3'
Sequencing Primer
(F):5'- AACGAAGCCCAGGTCCTG -3'
(R):5'- CTCTTGCTTACAAAGGAGGGAAAATG -3'
|
Posted On |
2021-01-18 |