Incidental Mutation 'IGL02102:Cdk14'
ID |
279790 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cdk14
|
Ensembl Gene |
ENSMUSG00000028926 |
Gene Name |
cyclin dependent kinase 14 |
Synonyms |
Pftk1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02102
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
4853384-5430251 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 5430083 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 15
(K15E)
|
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: K15E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000030763 Gene: ENSMUSG00000028926 AA Change: K15E
Domain | Start | End | E-Value | Type |
low complexity region
|
119 |
127 |
N/A |
INTRINSIC |
S_TKc
|
135 |
419 |
3.63e-85 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132390
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134867
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153331
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200637
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
C |
6: 92,754,420 (GRCm39) |
T1338A |
probably benign |
Het |
Adcy3 |
G |
A |
12: 4,184,699 (GRCm39) |
C125Y |
probably damaging |
Het |
Aoc1 |
A |
T |
6: 48,882,896 (GRCm39) |
K257N |
probably damaging |
Het |
Apob |
T |
C |
12: 8,039,407 (GRCm39) |
V497A |
possibly damaging |
Het |
Atp8b5 |
T |
A |
4: 43,364,167 (GRCm39) |
V684D |
probably benign |
Het |
AW551984 |
A |
G |
9: 39,500,987 (GRCm39) |
W763R |
probably damaging |
Het |
Blm |
G |
A |
7: 80,119,504 (GRCm39) |
T1026M |
probably damaging |
Het |
Cd160 |
A |
G |
3: 96,712,886 (GRCm39) |
I126T |
possibly damaging |
Het |
Cnot6l |
T |
C |
5: 96,239,518 (GRCm39) |
K261R |
probably damaging |
Het |
Cyp3a13 |
T |
G |
5: 137,909,865 (GRCm39) |
T153P |
probably benign |
Het |
Ddx24 |
A |
G |
12: 103,374,743 (GRCm39) |
|
probably benign |
Het |
Dido1 |
G |
A |
2: 180,304,040 (GRCm39) |
T1288I |
possibly damaging |
Het |
Dnajc13 |
A |
G |
9: 104,106,208 (GRCm39) |
V322A |
possibly damaging |
Het |
Dnajc25 |
T |
A |
4: 59,017,693 (GRCm39) |
Y117* |
probably null |
Het |
Dsg1a |
A |
G |
18: 20,465,089 (GRCm39) |
N427D |
probably benign |
Het |
Gabrq |
T |
G |
X: 71,871,151 (GRCm39) |
|
probably null |
Het |
Glce |
A |
G |
9: 61,977,883 (GRCm39) |
|
probably benign |
Het |
Gm10477 |
T |
C |
X: 55,570,761 (GRCm39) |
L45P |
probably damaging |
Het |
Htt |
T |
A |
5: 35,048,825 (GRCm39) |
|
probably benign |
Het |
Ift140 |
A |
G |
17: 25,252,104 (GRCm39) |
E317G |
probably benign |
Het |
Jak1 |
A |
G |
4: 101,016,283 (GRCm39) |
M827T |
probably benign |
Het |
Kalrn |
A |
G |
16: 34,040,592 (GRCm39) |
V932A |
probably damaging |
Het |
Mdm2 |
A |
C |
10: 117,528,622 (GRCm39) |
S227R |
possibly damaging |
Het |
Or14a259 |
T |
C |
7: 86,013,074 (GRCm39) |
Y157C |
probably benign |
Het |
Or4c111 |
A |
G |
2: 88,843,470 (GRCm39) |
|
probably benign |
Het |
Or5ak25 |
A |
G |
2: 85,268,611 (GRCm39) |
V297A |
probably damaging |
Het |
Or5g27 |
G |
A |
2: 85,410,017 (GRCm39) |
V145I |
probably damaging |
Het |
Or5w22 |
T |
C |
2: 87,362,805 (GRCm39) |
F143L |
probably benign |
Het |
Pdilt |
T |
G |
7: 119,086,173 (GRCm39) |
E514A |
probably benign |
Het |
Pepd |
A |
G |
7: 34,645,028 (GRCm39) |
D153G |
probably damaging |
Het |
Ptgis |
A |
T |
2: 167,067,367 (GRCm39) |
V70E |
probably damaging |
Het |
Rnf112 |
T |
C |
11: 61,342,841 (GRCm39) |
K262E |
probably benign |
Het |
Setd5 |
G |
T |
6: 113,127,946 (GRCm39) |
G1300* |
probably null |
Het |
Snx15 |
A |
G |
19: 6,172,104 (GRCm39) |
L113P |
possibly damaging |
Het |
Sptbn1 |
T |
C |
11: 30,087,427 (GRCm39) |
D1004G |
probably damaging |
Het |
Ston2 |
A |
C |
12: 91,606,498 (GRCm39) |
*896G |
probably null |
Het |
Suco |
A |
G |
1: 161,655,274 (GRCm39) |
S1073P |
probably damaging |
Het |
Susd1 |
A |
C |
4: 59,369,636 (GRCm39) |
D344E |
possibly damaging |
Het |
Trnt1 |
G |
T |
6: 106,755,073 (GRCm39) |
|
probably null |
Het |
Ttll12 |
A |
G |
15: 83,466,264 (GRCm39) |
F399S |
probably damaging |
Het |
Vmn1r124 |
C |
T |
7: 20,994,467 (GRCm39) |
V26I |
probably benign |
Het |
Vmn1r52 |
T |
A |
6: 90,156,189 (GRCm39) |
N164K |
possibly damaging |
Het |
Vmn1r56 |
A |
T |
7: 5,199,335 (GRCm39) |
M94K |
possibly damaging |
Het |
Vmn1r80 |
T |
C |
7: 11,927,618 (GRCm39) |
F243L |
probably damaging |
Het |
Zdhhc8 |
G |
A |
16: 18,043,063 (GRCm39) |
S379F |
possibly 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 |
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 |
R8543:Cdk14
|
UTSW |
5 |
5,430,079 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
|
Posted On |
2015-04-16 |