Incidental Mutation 'IGL02179:Cdk14'
| ID |
283242 |
| 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 # |
IGL02179
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
4853384-5430251 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 5153845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 199
(L199V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030763]
[ENSMUST00000115450]
[ENSMUST00000115451]
[ENSMUST00000115452]
|
| AlphaFold |
O35495 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030763
AA Change: L217V
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030763
Gene: ENSMUSG00000028926
AA Change: L217V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
119 |
127 |
N/A |
INTRINSIC |
|
S_TKc
|
135 |
419 |
3.63e-85 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115450
AA Change: L171V
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111110
Gene: ENSMUSG00000028926
AA Change: L171V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
81 |
N/A |
INTRINSIC |
|
S_TKc
|
89 |
373 |
3.63e-85 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115451
AA Change: L171V
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111111
Gene: ENSMUSG00000028926
AA Change: L171V
| 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 damaging
Transcript: ENSMUST00000115452
AA Change: L199V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111112
Gene: ENSMUSG00000028926
AA Change: L199V
| 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: ENSMUST00000132390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133465
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134867
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
C |
A |
2: 31,682,261 (GRCm39) |
A385D |
probably damaging |
Het |
| Ace |
A |
G |
11: 105,860,615 (GRCm39) |
D174G |
probably benign |
Het |
| Aldh1l2 |
A |
G |
10: 83,358,701 (GRCm39) |
V98A |
probably benign |
Het |
| AU040320 |
T |
A |
4: 126,729,405 (GRCm39) |
F522L |
probably benign |
Het |
| Ccdc73 |
A |
G |
2: 104,737,913 (GRCm39) |
D3G |
probably damaging |
Het |
| Cdk15 |
G |
T |
1: 59,370,100 (GRCm39) |
A381S |
possibly damaging |
Het |
| Cyb5a |
A |
G |
18: 84,891,280 (GRCm39) |
I68V |
probably benign |
Het |
| Dock5 |
G |
A |
14: 68,043,945 (GRCm39) |
|
probably benign |
Het |
| Fbxw24 |
T |
A |
9: 109,438,973 (GRCm39) |
K201* |
probably null |
Het |
| Gm5852 |
C |
T |
3: 93,635,023 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdma3 |
A |
G |
11: 98,526,097 (GRCm39) |
K274E |
possibly damaging |
Het |
| Hoxa7 |
T |
A |
6: 52,192,854 (GRCm39) |
Q178L |
probably damaging |
Het |
| Itgae |
G |
T |
11: 73,024,844 (GRCm39) |
V992L |
probably benign |
Het |
| Klk1b26 |
A |
G |
7: 43,665,736 (GRCm39) |
N183D |
probably benign |
Het |
| Krt39 |
A |
T |
11: 99,411,667 (GRCm39) |
S140T |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 26,946,360 (GRCm39) |
T1953I |
probably benign |
Het |
| Mmp1a |
G |
A |
9: 7,464,273 (GRCm39) |
R26Q |
probably benign |
Het |
| Myh7b |
A |
C |
2: 155,456,411 (GRCm39) |
I175L |
probably benign |
Het |
| Nol11 |
A |
G |
11: 107,080,082 (GRCm39) |
M1T |
probably null |
Het |
| Nrxn1 |
T |
A |
17: 90,937,511 (GRCm39) |
I641F |
probably damaging |
Het |
| Or51ag1 |
A |
C |
7: 103,155,934 (GRCm39) |
L73R |
probably damaging |
Het |
| Or8k3 |
A |
T |
2: 86,058,591 (GRCm39) |
C241* |
probably null |
Het |
| Or9i2 |
T |
C |
19: 13,815,851 (GRCm39) |
T229A |
probably benign |
Het |
| Parn |
G |
T |
16: 13,485,456 (GRCm39) |
H13Q |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 81,980,493 (GRCm39) |
|
probably benign |
Het |
| Pdcd10 |
T |
C |
3: 75,434,922 (GRCm39) |
D60G |
probably damaging |
Het |
| Phka2 |
G |
A |
X: 159,337,376 (GRCm39) |
|
probably null |
Het |
| Ppargc1a |
A |
T |
5: 51,631,053 (GRCm39) |
D525E |
possibly damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,597,589 (GRCm39) |
R139L |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,638,712 (GRCm39) |
V178A |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sdccag8 |
C |
T |
1: 176,705,622 (GRCm39) |
H479Y |
probably benign |
Het |
| Taf8 |
T |
C |
17: 47,813,158 (GRCm39) |
T13A |
probably benign |
Het |
| Ttc8 |
T |
C |
12: 98,930,796 (GRCm39) |
L270P |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,717,712 (GRCm39) |
Q365* |
probably null |
Het |
| Uchl1 |
A |
G |
5: 66,833,637 (GRCm39) |
Q2R |
probably benign |
Het |
| Ufl1 |
A |
G |
4: 25,254,896 (GRCm39) |
V440A |
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 |
|
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 |
Incidental Mutation