Incidental Mutation 'R8279:Cdk14'
| ID |
638106 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk14
|
| Ensembl Gene |
ENSMUSG00000028926 |
| Gene Name |
cyclin dependent kinase 14 |
| Synonyms |
Pftk1 |
| MMRRC Submission |
067702-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8279 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
4853384-5430251 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 5316125 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (33/33) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,069,549 (GRCm39) |
N1282S |
probably benign |
Het |
| Als2cl |
A |
G |
9: 110,723,653 (GRCm39) |
H683R |
probably damaging |
Het |
| Ank2 |
C |
T |
3: 126,726,820 (GRCm39) |
D825N |
probably benign |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
| C3 |
A |
G |
17: 57,522,809 (GRCm39) |
V1025A |
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,893,487 (GRCm39) |
S1489P |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Clpb |
T |
C |
7: 101,355,695 (GRCm39) |
V183A |
possibly damaging |
Het |
| Cpa3 |
C |
T |
3: 20,277,478 (GRCm39) |
M232I |
possibly damaging |
Het |
| Cyp2j7 |
A |
G |
4: 96,116,796 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
G |
11: 69,366,399 (GRCm39) |
I1907T |
probably damaging |
Het |
| Efemp1 |
T |
C |
11: 28,871,795 (GRCm39) |
F437L |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,483,384 (GRCm39) |
|
probably null |
Het |
| Fry |
A |
T |
5: 150,419,726 (GRCm39) |
T599S |
|
Het |
| Gm10142 |
T |
A |
10: 77,552,001 (GRCm39) |
*121R |
probably null |
Het |
| Kcng3 |
A |
C |
17: 83,895,254 (GRCm39) |
F404C |
probably damaging |
Het |
| Mefv |
T |
G |
16: 3,533,086 (GRCm39) |
H395P |
unknown |
Het |
| Mrc1 |
T |
A |
2: 14,271,168 (GRCm39) |
D357E |
possibly damaging |
Het |
| Muc15 |
A |
G |
2: 110,562,052 (GRCm39) |
T163A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,644,199 (GRCm39) |
T208A |
probably benign |
Het |
| Or2q1 |
A |
T |
6: 42,794,557 (GRCm39) |
I51F |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pdpk1 |
A |
G |
17: 24,307,147 (GRCm39) |
S395P |
probably benign |
Het |
| Slc27a6 |
T |
C |
18: 58,705,251 (GRCm39) |
V211A |
probably benign |
Het |
| Slco3a1 |
T |
C |
7: 73,934,144 (GRCm39) |
D676G |
possibly damaging |
Het |
| Slfn4 |
T |
G |
11: 83,077,482 (GRCm39) |
M90R |
possibly damaging |
Het |
| Ssbp4 |
T |
C |
8: 71,054,955 (GRCm39) |
D68G |
probably damaging |
Het |
| Sval3 |
A |
G |
6: 41,949,371 (GRCm39) |
T70A |
possibly damaging |
Het |
| Taf1c |
C |
T |
8: 120,325,750 (GRCm39) |
R704Q |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,061,765 (GRCm39) |
D398E |
probably damaging |
Het |
| Tmprss3 |
A |
T |
17: 31,416,709 (GRCm39) |
V9E |
probably benign |
Het |
| Vps35l |
T |
A |
7: 118,345,722 (GRCm39) |
M109K |
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 |
|
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 |
|
|
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'- AGTCGGTCTTGAAAGCTTTAATAGG -3'
(R):5'- AACATGAACGCTGGTAGCC -3'
Sequencing Primer
(F):5'- CAAACACGATGGACTTGCCTGTG -3'
(R):5'- ACGCTGGTAGCCTAAACTTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation