Incidental Mutation 'R5708:Cdk14'
| ID |
452071 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk14
|
| Ensembl Gene |
ENSMUSG00000028926 |
| Gene Name |
cyclin dependent kinase 14 |
| Synonyms |
Pftk1 |
| MMRRC Submission |
043333-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5708 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
4853384-5430251 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to C
at 5316036 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 |
noncoding transcript
Transcript: ENSMUST00000137554
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134867
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (65/66) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067K01Rik |
A |
G |
8: 84,729,627 (GRCm39) |
K101R |
probably benign |
Het |
| 4933430I17Rik |
T |
C |
4: 62,444,106 (GRCm39) |
S18P |
probably benign |
Het |
| Adgb |
C |
T |
10: 10,267,501 (GRCm39) |
V940I |
probably damaging |
Het |
| Aox4 |
G |
T |
1: 58,285,032 (GRCm39) |
A595S |
possibly damaging |
Het |
| Asxl2 |
T |
A |
12: 3,550,603 (GRCm39) |
S782T |
possibly damaging |
Het |
| C1s2 |
A |
T |
6: 124,602,702 (GRCm39) |
L503* |
probably null |
Het |
| C7 |
A |
G |
15: 5,044,883 (GRCm39) |
V385A |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 104,912,635 (GRCm39) |
F630L |
probably damaging |
Het |
| Cdkl4 |
T |
C |
17: 80,846,951 (GRCm39) |
I239M |
possibly damaging |
Het |
| Cfap299 |
A |
T |
5: 98,885,566 (GRCm39) |
M158L |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,890,743 (GRCm39) |
N360S |
unknown |
Het |
| D630003M21Rik |
A |
G |
2: 158,062,312 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
G |
A |
7: 105,422,016 (GRCm39) |
P135S |
probably damaging |
Het |
| Dpysl2 |
A |
G |
14: 67,050,595 (GRCm39) |
S421P |
probably benign |
Het |
| Edn1 |
A |
T |
13: 42,457,143 (GRCm39) |
M59L |
probably benign |
Het |
| EU599041 |
A |
G |
7: 42,875,311 (GRCm39) |
|
noncoding transcript |
Het |
| Furin |
A |
G |
7: 80,047,603 (GRCm39) |
|
probably benign |
Het |
| Gkn2 |
T |
C |
6: 87,354,418 (GRCm39) |
L94P |
probably damaging |
Het |
| Gmeb2 |
A |
T |
2: 180,906,782 (GRCm39) |
C117S |
probably damaging |
Het |
| Greb1 |
T |
A |
12: 16,723,843 (GRCm39) |
I1869F |
probably benign |
Het |
| Heg1 |
A |
G |
16: 33,562,774 (GRCm39) |
E1119G |
probably damaging |
Het |
| Hmgcs2 |
T |
A |
3: 98,198,478 (GRCm39) |
L127Q |
probably damaging |
Het |
| Insyn2a |
C |
A |
7: 134,520,525 (GRCm39) |
V2F |
probably damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,911,082 (GRCm39) |
R493G |
probably benign |
Het |
| Kcnj11 |
C |
T |
7: 45,749,242 (GRCm39) |
R27H |
probably benign |
Het |
| Klra14-ps |
A |
G |
6: 130,134,751 (GRCm39) |
|
noncoding transcript |
Het |
| Lgmn |
A |
T |
12: 102,370,587 (GRCm39) |
N114K |
possibly damaging |
Het |
| Lipg |
C |
T |
18: 75,088,505 (GRCm39) |
M148I |
possibly damaging |
Het |
| Megf8 |
G |
T |
7: 25,034,022 (GRCm39) |
R607L |
probably benign |
Het |
| Mks1 |
A |
G |
11: 87,747,665 (GRCm39) |
T183A |
probably benign |
Het |
| Mllt11 |
A |
G |
3: 95,127,515 (GRCm39) |
V85A |
probably benign |
Het |
| Mpo |
A |
T |
11: 87,692,581 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
T |
16: 32,575,515 (GRCm39) |
|
probably benign |
Het |
| Myoz3 |
T |
C |
18: 60,712,104 (GRCm39) |
Y158C |
probably damaging |
Het |
| Or11g25 |
A |
T |
14: 50,723,452 (GRCm39) |
D179V |
probably damaging |
Het |
| Or4k41 |
A |
G |
2: 111,280,354 (GRCm39) |
R290G |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,391 (GRCm39) |
I135V |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,881,380 (GRCm39) |
S902R |
probably damaging |
Het |
| Rarb |
T |
C |
14: 16,548,545 (GRCm38) |
T93A |
probably damaging |
Het |
| Rgs12 |
A |
G |
5: 35,123,696 (GRCm39) |
D493G |
probably benign |
Het |
| Sec31b |
T |
A |
19: 44,511,583 (GRCm39) |
D606V |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,377,891 (GRCm39) |
F569L |
possibly damaging |
Het |
| Sil1 |
T |
C |
18: 35,474,170 (GRCm39) |
E149G |
probably benign |
Het |
| Spata13 |
T |
G |
14: 60,929,452 (GRCm39) |
S337A |
probably damaging |
Het |
| Srfbp1 |
T |
A |
18: 52,622,018 (GRCm39) |
L360M |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,250,222 (GRCm39) |
C1852S |
probably damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,300,360 (GRCm39) |
T208A |
probably damaging |
Het |
| Tmem38b |
G |
C |
4: 53,849,051 (GRCm39) |
|
probably null |
Het |
| Tnfrsf11a |
T |
A |
1: 105,741,545 (GRCm39) |
|
probably null |
Het |
| Tnik |
T |
A |
3: 28,666,120 (GRCm39) |
|
probably null |
Het |
| Tsc1 |
A |
T |
2: 28,555,197 (GRCm39) |
|
probably benign |
Het |
| Zfp930 |
T |
C |
8: 69,679,113 (GRCm39) |
V41A |
probably benign |
Het |
| Zscan18 |
A |
T |
7: 12,508,383 (GRCm39) |
D372E |
probably benign |
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 |
|
|
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 |
|
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'- GCTAACAGTCGGTCTTGAAAGC -3'
(R):5'- TAGCCTAAACTTGGCCTTCTCTAG -3'
Sequencing Primer
(F):5'- CAGTCGGTCTTGAAAGCTTTAATAGG -3'
(R):5'- GGACCTCAGATGATGATTTAATGGC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation