Incidental Mutation 'R2908:Cdk14'
| ID |
261101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk14
|
| Ensembl Gene |
ENSMUSG00000028926 |
| Gene Name |
cyclin dependent kinase 14 |
| Synonyms |
Pftk1 |
| MMRRC Submission |
040495-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2908 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
4853384-5430251 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5299051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 55
(I55V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030763]
[ENSMUST00000115450]
[ENSMUST00000115451]
[ENSMUST00000115452]
[ENSMUST00000131392]
[ENSMUST00000167567]
|
| AlphaFold |
O35495 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030763
AA Change: I101V
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000030763
Gene: ENSMUSG00000028926
AA Change: I101V
| 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
AA Change: I55V
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000111110
Gene: ENSMUSG00000028926
AA Change: I55V
| 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
AA Change: I55V
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000111111
Gene: ENSMUSG00000028926
AA Change: I55V
| 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
AA Change: I83V
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000111112
Gene: ENSMUSG00000028926
AA Change: I83V
| 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
AA Change: I55V
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000114741
Gene: ENSMUSG00000028926
AA Change: I55V
| 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
AA Change: I131V
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000130895
Gene: ENSMUSG00000028926
AA Change: I131V
| 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: ENSMUST00000137554
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153331
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
A |
G |
10: 77,149,237 (GRCm39) |
|
probably null |
Het |
| Ap1b1 |
T |
A |
11: 4,981,641 (GRCm39) |
N516K |
probably damaging |
Het |
| Atp1a4 |
A |
G |
1: 172,062,044 (GRCm39) |
Y694H |
probably benign |
Het |
| Bhlha9 |
T |
C |
11: 76,563,433 (GRCm39) |
V20A |
probably benign |
Het |
| Ccl28 |
C |
A |
13: 120,112,398 (GRCm39) |
|
probably null |
Het |
| Cit |
C |
A |
5: 116,119,735 (GRCm39) |
D1246E |
probably benign |
Het |
| Clp1 |
A |
G |
2: 84,554,488 (GRCm39) |
V227A |
possibly damaging |
Het |
| Dhx29 |
T |
C |
13: 113,064,385 (GRCm39) |
V20A |
possibly damaging |
Het |
| Lima1 |
C |
T |
15: 99,699,991 (GRCm39) |
|
probably null |
Het |
| Lyst |
A |
G |
13: 13,844,458 (GRCm39) |
I1883V |
probably benign |
Het |
| Myh1 |
C |
T |
11: 67,111,522 (GRCm39) |
Q1654* |
probably null |
Het |
| Or5d46 |
T |
C |
2: 88,170,827 (GRCm39) |
I306T |
probably benign |
Het |
| Pbx3 |
G |
T |
2: 34,062,933 (GRCm39) |
T422K |
probably damaging |
Het |
| Plekhg4 |
T |
C |
8: 106,107,493 (GRCm39) |
L1008P |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,380,270 (GRCm39) |
T516S |
probably benign |
Het |
| Slc25a40 |
C |
T |
5: 8,477,505 (GRCm39) |
T30I |
probably damaging |
Het |
| Spata31d1c |
A |
T |
13: 65,181,005 (GRCm39) |
I35F |
possibly damaging |
Het |
| Tmem18 |
A |
T |
12: 30,637,252 (GRCm39) |
R78* |
probably null |
Het |
| Uggt2 |
C |
T |
14: 119,256,919 (GRCm39) |
S1105N |
probably benign |
Het |
| Zfp53 |
C |
A |
17: 21,728,736 (GRCm39) |
C256* |
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGAGAGTGCATAACCCTC -3'
(R):5'- TGATAGCGATGTTTCAGTGAAGAG -3'
Sequencing Primer
(F):5'- GAGAGTGCATAACCCTCACTGAG -3'
(R):5'- TCAGTGAAGAGTCCTCAGCTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation