Incidental Mutation 'R4432:Cdk14'
| ID |
381241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk14
|
| Ensembl Gene |
ENSMUSG00000028926 |
| Gene Name |
cyclin dependent kinase 14 |
| Synonyms |
Pftk1 |
| MMRRC Submission |
041701-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4432 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
4853384-5430251 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5086427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 298
(W298R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030763]
[ENSMUST00000115450]
[ENSMUST00000115451]
[ENSMUST00000115452]
|
| AlphaFold |
O35495 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030763
AA Change: W316R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030763
Gene: ENSMUSG00000028926
AA Change: W316R
| 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 damaging
Transcript: ENSMUST00000115450
AA Change: W270R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111110
Gene: ENSMUSG00000028926
AA Change: W270R
| 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: ENSMUST00000115451
AA Change: W270R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111111
Gene: ENSMUSG00000028926
AA Change: W270R
| 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: W298R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111112
Gene: ENSMUSG00000028926
AA Change: W298R
| 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: ENSMUST00000134867
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156660
|
| Meta Mutation Damage Score |
0.9745 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (42/42) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,132,414 (GRCm39) |
M294V |
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,186,937 (GRCm39) |
|
probably null |
Het |
| Acsm4 |
A |
C |
7: 119,310,610 (GRCm39) |
E499A |
probably damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,589,069 (GRCm39) |
|
probably null |
Het |
| Ank2 |
A |
T |
3: 126,741,455 (GRCm39) |
|
probably benign |
Het |
| Anks6 |
G |
A |
4: 47,044,905 (GRCm39) |
Q334* |
probably null |
Het |
| Cadps2 |
T |
A |
6: 23,626,737 (GRCm39) |
I155L |
probably damaging |
Het |
| Casp4 |
G |
A |
9: 5,323,653 (GRCm39) |
R74H |
probably damaging |
Het |
| Chia1 |
A |
G |
3: 106,022,641 (GRCm39) |
N12D |
probably benign |
Het |
| Cibar2 |
C |
A |
8: 120,901,594 (GRCm39) |
R37L |
probably damaging |
Het |
| Cyp3a59 |
A |
G |
5: 146,041,596 (GRCm39) |
D380G |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,402,600 (GRCm39) |
|
probably benign |
Het |
| Dnm3 |
T |
C |
1: 161,819,566 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
A |
G |
2: 62,175,456 (GRCm39) |
Y660H |
probably damaging |
Het |
| H6pd |
T |
G |
4: 150,080,215 (GRCm39) |
Y202S |
probably damaging |
Het |
| Hnrnpa0 |
T |
C |
13: 58,275,751 (GRCm39) |
K126R |
probably benign |
Het |
| Insc |
C |
T |
7: 114,368,290 (GRCm39) |
|
probably benign |
Het |
| Lrrc45 |
G |
A |
11: 120,606,047 (GRCm39) |
|
probably null |
Het |
| Mapkap1 |
T |
C |
2: 34,509,875 (GRCm39) |
L263P |
probably damaging |
Het |
| Nmur1 |
A |
G |
1: 86,315,287 (GRCm39) |
S160P |
probably damaging |
Het |
| Or4a81 |
A |
T |
2: 89,619,078 (GRCm39) |
M206K |
possibly damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,757 (GRCm39) |
C209* |
probably null |
Het |
| Pcdhb15 |
A |
G |
18: 37,608,565 (GRCm39) |
N599S |
probably damaging |
Het |
| Pcid2 |
T |
C |
8: 13,135,421 (GRCm39) |
D196G |
probably damaging |
Het |
| Pcolce2 |
T |
C |
9: 95,563,610 (GRCm39) |
F199L |
probably damaging |
Het |
| Phf11c |
A |
T |
14: 59,628,384 (GRCm39) |
N88K |
possibly damaging |
Het |
| Prl8a8 |
T |
A |
13: 27,694,463 (GRCm39) |
Y109F |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,424,460 (GRCm39) |
|
probably benign |
Het |
| Samhd1 |
T |
C |
2: 156,946,813 (GRCm39) |
D558G |
probably damaging |
Het |
| Slc1a1 |
T |
C |
19: 28,880,109 (GRCm39) |
F263S |
probably benign |
Het |
| Slc27a3 |
G |
A |
3: 90,294,647 (GRCm39) |
T408M |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,757,323 (GRCm38) |
N520K |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,241,428 (GRCm39) |
S1679P |
probably damaging |
Het |
| Trmt9b |
A |
T |
8: 36,965,632 (GRCm39) |
I51F |
probably damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,321,412 (GRCm39) |
F173S |
possibly damaging |
Het |
| Vmn2r32 |
T |
A |
7: 7,482,918 (GRCm39) |
N19Y |
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 |
|
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 |
|
|
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'- AAAAGCCTCTGACCTTCTCC -3'
(R):5'- TTGGGATTTACAGCACCCGTTC -3'
Sequencing Primer
(F):5'- CTATTAAGAGGCCCCATCTGGAG -3'
(R):5'- GGGATTTACAGCACCCGTTCTTTTC -3'
|
| Posted On |
2016-04-21 |
Incidental Mutation