Incidental Mutation 'IGL00678:Cdk14'
| ID |
9568 |
| 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 # |
IGL00678
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
4853384-5430251 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 5299237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030763]
[ENSMUST00000115450]
[ENSMUST00000115451]
[ENSMUST00000115452]
[ENSMUST00000131392]
[ENSMUST00000167567]
|
| 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 |
probably benign
Transcript: ENSMUST00000131392
|
| SMART Domains |
Protein: ENSMUSP00000114741
Gene: ENSMUSG00000028926
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
81 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133465
|
| 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: ENSMUST00000134867
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137554
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Baz2b |
T |
C |
2: 59,836,527 (GRCm39) |
E2G |
unknown |
Het |
| Bbs2 |
T |
A |
8: 94,815,795 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
T |
2: 13,472,521 (GRCm39) |
I477N |
possibly damaging |
Het |
| Dtl |
A |
C |
1: 191,278,738 (GRCm39) |
|
probably null |
Het |
| Ercc6l2 |
T |
A |
13: 63,992,427 (GRCm39) |
V292E |
probably damaging |
Het |
| Eri3 |
A |
G |
4: 117,422,088 (GRCm39) |
H122R |
probably benign |
Het |
| Glrx3 |
T |
A |
7: 137,054,442 (GRCm39) |
V75D |
probably damaging |
Het |
| Ifi213 |
A |
G |
1: 173,421,619 (GRCm39) |
|
probably benign |
Het |
| Ppp1cb |
T |
A |
5: 32,642,682 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,304,309 (GRCm39) |
T66A |
probably damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,424,069 (GRCm39) |
S574G |
probably benign |
Het |
| Tas2r136 |
A |
T |
6: 132,754,161 (GRCm39) |
L322Q |
probably damaging |
Het |
| Tead1 |
A |
G |
7: 112,441,087 (GRCm39) |
|
probably null |
Het |
| Tsfm |
G |
A |
10: 126,864,311 (GRCm39) |
Q135* |
probably null |
Het |
|
| Other mutations in Cdk14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation