Incidental Mutation 'R8121:Cdk14'
| ID |
631490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk14
|
| Ensembl Gene |
ENSMUSG00000028926 |
| Gene Name |
cyclin dependent kinase 14 |
| Synonyms |
Pftk1 |
| MMRRC Submission |
067550-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8121 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
4853384-5430251 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5277195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 145
(S145T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030763
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030763]
[ENSMUST00000115450]
[ENSMUST00000115451]
[ENSMUST00000115452]
[ENSMUST00000131392]
[ENSMUST00000167567]
|
| AlphaFold |
O35495 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030763
AA Change: S145T
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030763
Gene: ENSMUSG00000028926
AA Change: S145T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
119 |
127 |
N/A |
INTRINSIC |
|
S_TKc
|
135 |
419 |
3.63e-85 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115450
AA Change: S99T
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111110
Gene: ENSMUSG00000028926
AA Change: S99T
| 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: ENSMUST00000115451
AA Change: S99T
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111111
Gene: ENSMUSG00000028926
AA Change: S99T
| 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
AA Change: S127T
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000111112
Gene: ENSMUSG00000028926
AA Change: S127T
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 97.3%
|
| Validation Efficiency |
100% (60/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
T |
6: 83,138,893 (GRCm39) |
M273L |
probably benign |
Het |
| Abi3bp |
A |
T |
16: 56,452,241 (GRCm39) |
K912N |
unknown |
Het |
| Arfgap2 |
T |
C |
2: 91,096,028 (GRCm39) |
F62L |
probably benign |
Het |
| Arhgap45 |
A |
G |
10: 79,853,909 (GRCm39) |
E141G |
probably damaging |
Het |
| Atraid |
G |
A |
5: 31,211,642 (GRCm39) |
|
probably null |
Het |
| Cd101 |
G |
A |
3: 100,927,898 (GRCm39) |
A65V |
probably damaging |
Het |
| Cd177 |
A |
G |
7: 24,459,067 (GRCm39) |
V114A |
probably benign |
Het |
| Cdh6 |
T |
C |
15: 13,044,757 (GRCm39) |
N455S |
probably damaging |
Het |
| Ces1h |
T |
C |
8: 94,080,104 (GRCm39) |
E470G |
unknown |
Het |
| Cfap58 |
A |
G |
19: 48,017,543 (GRCm39) |
Y801C |
probably benign |
Het |
| Clec2d |
C |
T |
6: 129,161,847 (GRCm39) |
T160M |
probably benign |
Het |
| Cryz |
A |
G |
3: 154,327,382 (GRCm39) |
I269V |
probably benign |
Het |
| Ctdp1 |
A |
T |
18: 80,499,223 (GRCm39) |
Y240N |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,909,212 (GRCm39) |
Y1275C |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,908,201 (GRCm39) |
I2385T |
probably benign |
Het |
| Dpp8 |
A |
G |
9: 64,985,362 (GRCm39) |
M807V |
probably benign |
Het |
| Entpd3 |
T |
A |
9: 120,384,720 (GRCm39) |
I99N |
probably damaging |
Het |
| Fbxw11 |
A |
G |
11: 32,670,646 (GRCm39) |
E204G |
possibly damaging |
Het |
| Fscn1 |
T |
C |
5: 142,946,616 (GRCm39) |
M138T |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,057,552 (GRCm39) |
Q689L |
probably benign |
Het |
| Iqgap2 |
T |
C |
13: 95,861,076 (GRCm39) |
N350S |
probably benign |
Het |
| Kcnj10 |
T |
A |
1: 172,196,809 (GRCm39) |
C108S |
probably damaging |
Het |
| Krtap10-4 |
G |
A |
10: 77,662,840 (GRCm39) |
R13C |
unknown |
Het |
| Lmo7 |
T |
C |
14: 102,163,736 (GRCm39) |
I1527T |
unknown |
Het |
| Lrrc17 |
A |
G |
5: 21,775,329 (GRCm39) |
K297R |
probably benign |
Het |
| Ltb4r1 |
G |
A |
14: 56,005,579 (GRCm39) |
R294H |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,410,324 (GRCm39) |
D364G |
probably damaging |
Het |
| Mavs |
A |
C |
2: 131,087,395 (GRCm39) |
T298P |
probably damaging |
Het |
| Myh8 |
G |
T |
11: 67,180,647 (GRCm39) |
A628S |
probably benign |
Het |
| Neurl4 |
A |
T |
11: 69,799,056 (GRCm39) |
|
probably null |
Het |
| Nicn1 |
C |
A |
9: 108,172,304 (GRCm39) |
T213K |
probably damaging |
Het |
| Nptx1 |
G |
A |
11: 119,433,492 (GRCm39) |
T369I |
probably damaging |
Het |
| Nt5c1a |
T |
C |
4: 123,102,235 (GRCm39) |
S54P |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,022,428 (GRCm39) |
R132Q |
probably damaging |
Het |
| Or2b11 |
A |
T |
11: 59,461,870 (GRCm39) |
I232N |
probably damaging |
Het |
| Or4k41 |
A |
G |
2: 111,279,505 (GRCm39) |
T7A |
probably benign |
Het |
| Or4p18 |
A |
T |
2: 88,233,040 (GRCm39) |
F79L |
probably benign |
Het |
| Or7g22 |
G |
A |
9: 19,048,988 (GRCm39) |
G233E |
probably damaging |
Het |
| Pip5k1b |
A |
T |
19: 24,337,355 (GRCm39) |
I311N |
probably damaging |
Het |
| Pkdrej |
C |
T |
15: 85,699,655 (GRCm39) |
V2094I |
probably benign |
Het |
| Pla2g2f |
A |
G |
4: 138,479,621 (GRCm39) |
Y179H |
probably damaging |
Het |
| Plekha3 |
A |
T |
2: 76,516,992 (GRCm39) |
T115S |
probably damaging |
Het |
| Ppp4c |
A |
G |
7: 126,386,496 (GRCm39) |
L167P |
probably damaging |
Het |
| Pramel28 |
T |
A |
4: 143,691,611 (GRCm39) |
S371C |
probably benign |
Het |
| Rarg |
A |
G |
15: 102,148,393 (GRCm39) |
I238T |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,531,203 (GRCm39) |
I558N |
probably damaging |
Het |
| Sema3a |
C |
A |
5: 13,649,215 (GRCm39) |
H655N |
probably damaging |
Het |
| Serpinb6c |
T |
C |
13: 34,064,201 (GRCm39) |
M285V |
probably benign |
Het |
| Setx |
T |
A |
2: 29,035,046 (GRCm39) |
S510R |
possibly damaging |
Het |
| Sgcz |
A |
G |
8: 37,990,457 (GRCm39) |
S299P |
probably damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,032,403 (GRCm39) |
F368I |
probably benign |
Het |
| Slc7a9 |
C |
A |
7: 35,153,542 (GRCm39) |
T181K |
probably damaging |
Het |
| Slco2b1 |
G |
A |
7: 99,334,760 (GRCm39) |
T237M |
probably benign |
Het |
| Spg11 |
A |
G |
2: 121,900,348 (GRCm39) |
|
probably null |
Het |
| Tbc1d22b |
G |
T |
17: 29,791,945 (GRCm39) |
G225V |
probably damaging |
Het |
| Tbcd |
A |
G |
11: 121,487,969 (GRCm39) |
|
probably null |
Het |
| Unc93a |
T |
C |
17: 13,328,560 (GRCm39) |
Y431C |
probably benign |
Het |
| Vmn1r65 |
C |
T |
7: 6,011,464 (GRCm39) |
V257I |
possibly damaging |
Het |
| Vmn2r124 |
A |
T |
17: 18,282,433 (GRCm39) |
T154S |
probably benign |
Het |
| Wnk2 |
A |
T |
13: 49,214,415 (GRCm39) |
L1487* |
probably null |
Het |
| Zfp853 |
G |
A |
5: 143,274,018 (GRCm39) |
A549V |
probably damaging |
Het |
| Zfp936 |
C |
T |
7: 42,839,547 (GRCm39) |
T338I |
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 |
|
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 |
|
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'- TCCTAGCAAGCTTCCAGGAG -3'
(R):5'- TCTCCCTTGGTTCAATTATGGG -3'
Sequencing Primer
(F):5'- GATGCACTGCACATTGGA -3'
(R):5'- TGTTCTGAATTTGCACTATGACC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation