Incidental Mutation 'IGL03081:Cdk14'
| ID |
417887 |
| 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 # |
IGL03081
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
4853384-5430251 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 4999527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030763]
[ENSMUST00000115450]
[ENSMUST00000115451]
[ENSMUST00000115452]
|
| AlphaFold |
O35495 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030763
|
| SMART Domains |
Protein: ENSMUSP00000030763
Gene: ENSMUSG00000028926
| 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: ENSMUST00000115450
|
| SMART Domains |
Protein: ENSMUSP00000111110
Gene: ENSMUSG00000028926
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
81 |
N/A |
INTRINSIC |
|
S_TKc
|
89 |
373 |
3.63e-85 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115451
|
| SMART Domains |
Protein: ENSMUSP00000111111
Gene: ENSMUSG00000028926
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
81 |
N/A |
INTRINSIC |
|
S_TKc
|
89 |
373 |
3.63e-85 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115452
|
| SMART Domains |
Protein: ENSMUSP00000111112
Gene: ENSMUSG00000028926
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
101 |
109 |
N/A |
INTRINSIC |
|
S_TKc
|
117 |
401 |
3.63e-85 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133465
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156660
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
C |
A |
19: 43,770,841 (GRCm39) |
|
probably benign |
Het |
| Acan |
T |
G |
7: 78,748,291 (GRCm39) |
S1021A |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,581,464 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,148,086 (GRCm39) |
K1018E |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,165,881 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
T |
C |
10: 98,830,675 (GRCm39) |
|
probably benign |
Het |
| Cct6b |
A |
T |
11: 82,654,995 (GRCm39) |
L20* |
probably null |
Het |
| Cd300ld2 |
G |
A |
11: 114,903,368 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
T |
G |
18: 34,769,757 (GRCm39) |
K454T |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,868,982 (GRCm39) |
I158F |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Clec2i |
A |
T |
6: 128,871,728 (GRCm39) |
Y113F |
probably damaging |
Het |
| Dmpk |
T |
A |
7: 18,821,458 (GRCm39) |
S239T |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,905,347 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
G |
13: 31,084,885 (GRCm39) |
Y359H |
probably benign |
Het |
| Eya1 |
A |
T |
1: 14,253,415 (GRCm39) |
F520L |
possibly damaging |
Het |
| Fgfr1op2 |
A |
T |
6: 146,498,817 (GRCm39) |
I217F |
probably damaging |
Het |
| Gm12258 |
A |
G |
11: 58,749,085 (GRCm39) |
N87D |
probably benign |
Het |
| Gp6 |
A |
G |
7: 4,374,647 (GRCm39) |
S225P |
probably benign |
Het |
| Hdac7 |
T |
C |
15: 97,696,187 (GRCm39) |
Y619C |
probably damaging |
Het |
| Lars1 |
A |
G |
18: 42,343,156 (GRCm39) |
I1087T |
probably benign |
Het |
| Lrrc37a |
G |
T |
11: 103,347,421 (GRCm39) |
H3091Q |
unknown |
Het |
| Mcm3ap |
T |
C |
10: 76,306,150 (GRCm39) |
S88P |
possibly damaging |
Het |
| Mrps23 |
G |
A |
11: 88,101,043 (GRCm39) |
R117Q |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,987,339 (GRCm39) |
S384G |
probably damaging |
Het |
| Ndufs4 |
A |
T |
13: 114,444,373 (GRCm39) |
I135N |
possibly damaging |
Het |
| Noto |
T |
C |
6: 85,401,091 (GRCm39) |
F40S |
probably damaging |
Het |
| Nr5a1 |
A |
T |
2: 38,600,544 (GRCm39) |
V41D |
possibly damaging |
Het |
| Or8b50 |
C |
T |
9: 38,518,166 (GRCm39) |
A135V |
probably benign |
Het |
| Papola |
T |
A |
12: 105,785,114 (GRCm39) |
H415Q |
probably damaging |
Het |
| Pcm1 |
C |
T |
8: 41,728,097 (GRCm39) |
T557I |
probably damaging |
Het |
| Pde11a |
A |
T |
2: 75,906,274 (GRCm39) |
|
probably benign |
Het |
| Pls1 |
A |
G |
9: 95,655,696 (GRCm39) |
V352A |
probably damaging |
Het |
| Pygm |
T |
C |
19: 6,438,851 (GRCm39) |
S226P |
possibly damaging |
Het |
| Rnf17 |
T |
A |
14: 56,671,828 (GRCm39) |
S273R |
probably benign |
Het |
| Scamp2 |
T |
C |
9: 57,494,410 (GRCm39) |
V261A |
possibly damaging |
Het |
| Slc7a12 |
T |
A |
3: 14,546,315 (GRCm39) |
F153L |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,667,186 (GRCm39) |
D1735E |
probably damaging |
Het |
| Stk40 |
A |
G |
4: 126,017,507 (GRCm39) |
|
probably null |
Het |
| Tas2r124 |
C |
T |
6: 132,732,497 (GRCm39) |
L269F |
possibly damaging |
Het |
| Tmem260 |
A |
C |
14: 48,733,750 (GRCm39) |
I216L |
probably benign |
Het |
| Ubr1 |
C |
A |
2: 120,791,637 (GRCm39) |
A116S |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,102,193 (GRCm39) |
K991R |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,657,138 (GRCm39) |
Y89C |
probably benign |
Het |
| Vps13b |
A |
C |
15: 35,875,966 (GRCm39) |
I2784L |
probably damaging |
Het |
| Zbtb26 |
T |
A |
2: 37,326,612 (GRCm39) |
K141N |
possibly damaging |
Het |
| Zranb1 |
T |
A |
7: 132,552,126 (GRCm39) |
M259K |
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 |
|
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 |
2016-08-02 |
Incidental Mutation