Incidental Mutation 'R9111:Cdk14'
| ID |
692244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk14
|
| Ensembl Gene |
ENSMUSG00000028926 |
| Gene Name |
cyclin dependent kinase 14 |
| Synonyms |
Pftk1 |
| MMRRC Submission |
068971-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9111 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
4853384-5430251 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 5315985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 13
(P13S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111112
(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 |
possibly damaging
Transcript: ENSMUST00000115452
AA Change: P13S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111112
Gene: ENSMUSG00000028926
AA Change: P13S
| 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 |
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 |
0.3019 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (47/47) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
T |
C |
8: 124,696,646 (GRCm39) |
N210S |
|
Het |
| Adamts17 |
A |
G |
7: 66,489,648 (GRCm39) |
D22G |
probably damaging |
Het |
| Aldh3b1 |
T |
C |
19: 3,971,797 (GRCm39) |
E58G |
probably damaging |
Het |
| Atg2a |
G |
A |
19: 6,311,534 (GRCm39) |
A1830T |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,966,340 (GRCm39) |
V4118A |
probably damaging |
Het |
| Ccdc28a |
G |
A |
10: 18,100,750 (GRCm39) |
P73S |
possibly damaging |
Het |
| Cdc42bpb |
A |
T |
12: 111,284,903 (GRCm39) |
D771E |
probably benign |
Het |
| Cdr2 |
G |
A |
7: 120,559,345 (GRCm39) |
S158F |
possibly damaging |
Het |
| Cfap44 |
A |
T |
16: 44,252,326 (GRCm39) |
T812S |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Cp |
A |
T |
3: 20,027,949 (GRCm39) |
I452F |
probably damaging |
Het |
| Dcdc2c |
T |
A |
12: 28,585,488 (GRCm39) |
I2F |
probably damaging |
Het |
| Dlat |
G |
A |
9: 50,570,906 (GRCm39) |
|
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,601,017 (GRCm39) |
D984G |
possibly damaging |
Het |
| Dsc2 |
T |
C |
18: 20,167,764 (GRCm39) |
I710V |
probably benign |
Het |
| Eif4e |
A |
G |
3: 138,252,122 (GRCm39) |
E20G |
probably benign |
Het |
| Fbxw16 |
T |
C |
9: 109,265,679 (GRCm39) |
Y380C |
probably damaging |
Het |
| Fscn3 |
A |
G |
6: 28,430,310 (GRCm39) |
D160G |
probably damaging |
Het |
| Gm9195 |
G |
A |
14: 72,694,123 (GRCm39) |
Q1531* |
probably null |
Het |
| Hps3 |
T |
C |
3: 20,084,575 (GRCm39) |
|
probably null |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igsf1 |
C |
T |
X: 48,875,736 (GRCm39) |
E755K |
probably null |
Het |
| Kalrn |
A |
G |
16: 34,181,371 (GRCm39) |
V89A |
probably damaging |
Het |
| Kcng1 |
C |
A |
2: 168,104,535 (GRCm39) |
G437V |
probably damaging |
Het |
| Krt82 |
C |
T |
15: 101,451,786 (GRCm39) |
R343Q |
probably benign |
Het |
| Lbr |
T |
C |
1: 181,645,068 (GRCm39) |
D528G |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,406,819 (GRCm39) |
E256G |
probably damaging |
Het |
| Mier2 |
T |
C |
10: 79,381,285 (GRCm39) |
|
probably benign |
Het |
| Mmp9 |
T |
A |
2: 164,792,726 (GRCm39) |
|
probably null |
Het |
| Myrf |
A |
G |
19: 10,191,421 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
A |
11: 62,280,585 (GRCm39) |
T82S |
possibly damaging |
Het |
| Or4c107 |
G |
A |
2: 88,789,055 (GRCm39) |
V82I |
probably benign |
Het |
| P2rx6 |
G |
T |
16: 17,385,627 (GRCm39) |
W176L |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,454,657 (GRCm39) |
E108G |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 115,993,531 (GRCm39) |
V412A |
probably damaging |
Het |
| Prkd2 |
A |
G |
7: 16,584,131 (GRCm39) |
E328G |
probably benign |
Het |
| Prmt1 |
A |
C |
7: 44,631,169 (GRCm39) |
V114G |
probably damaging |
Het |
| Rnf133 |
G |
A |
6: 23,648,928 (GRCm39) |
H334Y |
probably benign |
Het |
| Rps18-ps5 |
T |
A |
13: 28,441,626 (GRCm39) |
L3Q |
probably damaging |
Het |
| Secisbp2l |
A |
G |
2: 125,602,206 (GRCm39) |
S385P |
probably benign |
Het |
| Sel1l3 |
A |
T |
5: 53,279,213 (GRCm39) |
|
probably benign |
Het |
| Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
CCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGC |
4: 126,915,401 (GRCm39) |
|
probably benign |
Het |
| Slc35e1 |
G |
A |
8: 73,246,030 (GRCm39) |
P134L |
|
Het |
| Slc5a4b |
A |
T |
10: 75,925,827 (GRCm39) |
|
probably benign |
Het |
| Slc9a3 |
A |
G |
13: 74,298,920 (GRCm39) |
Y113C |
probably damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,306,333 (GRCm39) |
F161L |
possibly damaging |
Het |
| Zhx2 |
T |
C |
15: 57,685,984 (GRCm39) |
I451T |
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 |
|
|
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 |
|
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'- GAGAAGCTGATCTCAGTGGAGC -3'
(R):5'- CAGGATAAAGTGCATCCCTTTG -3'
Sequencing Primer
(F):5'- CTGATCTCAGTGGAGCAAGACC -3'
(R):5'- TGATTAAATGTTTTTCCTCATGTGC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation