Incidental Mutation 'R4324:Cdk14'
ID |
323953 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdk14
|
Ensembl Gene |
ENSMUSG00000028926 |
Gene Name |
cyclin dependent kinase 14 |
Synonyms |
Pftk1 |
MMRRC Submission |
041095-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4324 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
4853384-5430251 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 5086532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 263
(K263*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111112
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030763]
[ENSMUST00000115450]
[ENSMUST00000115451]
[ENSMUST00000115452]
|
AlphaFold |
O35495 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030763
AA Change: K281*
|
SMART Domains |
Protein: ENSMUSP00000030763 Gene: ENSMUSG00000028926 AA Change: K281*
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 null
Transcript: ENSMUST00000115450
AA Change: K235*
|
SMART Domains |
Protein: ENSMUSP00000111110 Gene: ENSMUSG00000028926 AA Change: K235*
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 null
Transcript: ENSMUST00000115451
AA Change: K235*
|
SMART Domains |
Protein: ENSMUSP00000111111 Gene: ENSMUSG00000028926 AA Change: K235*
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 null
Transcript: ENSMUST00000115452
AA Change: K263*
|
SMART Domains |
Protein: ENSMUSP00000111112 Gene: ENSMUSG00000028926 AA Change: K263*
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
Alg9 |
T |
G |
9: 50,716,643 (GRCm39) |
H22Q |
probably damaging |
Het |
Aqp6 |
G |
A |
15: 99,499,291 (GRCm39) |
M1I |
probably null |
Het |
Arhgef10 |
T |
A |
8: 14,990,335 (GRCm39) |
I270N |
possibly damaging |
Het |
Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
Atg10 |
T |
A |
13: 91,189,085 (GRCm39) |
D75V |
probably damaging |
Het |
Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
Cdan1 |
T |
C |
2: 120,555,460 (GRCm39) |
I760M |
probably damaging |
Het |
Cdk5rap2 |
A |
T |
4: 70,271,851 (GRCm39) |
I287N |
probably damaging |
Het |
Cdkn2aip |
A |
T |
8: 48,165,208 (GRCm39) |
S168R |
probably benign |
Het |
Dnah17 |
C |
T |
11: 117,985,039 (GRCm39) |
V1555M |
probably benign |
Het |
Dsel |
T |
C |
1: 111,789,123 (GRCm39) |
T471A |
probably damaging |
Het |
Dzank1 |
T |
C |
2: 144,330,618 (GRCm39) |
E478G |
possibly damaging |
Het |
Enc1 |
T |
C |
13: 97,382,405 (GRCm39) |
F305S |
probably benign |
Het |
Epn1 |
T |
A |
7: 5,100,210 (GRCm39) |
M441K |
probably benign |
Het |
Fbxw24 |
C |
T |
9: 109,434,013 (GRCm39) |
|
probably null |
Het |
Gad1 |
G |
A |
2: 70,420,174 (GRCm39) |
D353N |
probably damaging |
Het |
Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
H2-K2 |
C |
T |
17: 34,219,014 (GRCm39) |
V30M |
possibly damaging |
Het |
Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
Krt82 |
T |
A |
15: 101,450,182 (GRCm39) |
M505L |
probably benign |
Het |
Man2a1 |
A |
G |
17: 64,973,788 (GRCm39) |
I355V |
probably benign |
Het |
Or5p53 |
C |
T |
7: 107,532,900 (GRCm39) |
P58S |
probably damaging |
Het |
Pcbp3 |
G |
A |
10: 76,599,177 (GRCm39) |
R109* |
probably null |
Het |
Pcgf1 |
T |
C |
6: 83,056,938 (GRCm39) |
|
probably null |
Het |
Plekhm2 |
A |
T |
4: 141,359,168 (GRCm39) |
V533E |
possibly damaging |
Het |
Prss3 |
T |
G |
6: 41,350,779 (GRCm39) |
D237A |
probably benign |
Het |
Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Shc4 |
T |
A |
2: 125,520,670 (GRCm39) |
M260L |
probably benign |
Het |
Spag6l |
T |
C |
16: 16,605,099 (GRCm39) |
Y151C |
probably benign |
Het |
Stac3 |
C |
T |
10: 127,339,118 (GRCm39) |
P76S |
probably damaging |
Het |
Trpc7 |
T |
C |
13: 57,035,169 (GRCm39) |
I255V |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,738,923 (GRCm39) |
E3872G |
probably benign |
Het |
Uqcrfs1 |
A |
G |
13: 30,725,141 (GRCm39) |
V133A |
probably benign |
Het |
Vmn2r52 |
T |
A |
7: 9,904,940 (GRCm39) |
T300S |
possibly damaging |
Het |
Wipi1 |
A |
T |
11: 109,494,662 (GRCm39) |
I57N |
possibly 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 |
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'- CATAGGCAAGACTCCTGCAC -3'
(R):5'- AGTCAGGAGATTCTAAAGTGGTTG -3'
Sequencing Primer
(F):5'- AAGACTCCTGCACCATTAATCTTTG -3'
(R):5'- GCTTTATTTGCAGTATGAATGACTTG -3'
|
Posted On |
2015-06-24 |