Incidental Mutation 'R6384:Cdk17'
| ID |
515510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk17
|
| Ensembl Gene |
ENSMUSG00000020015 |
| Gene Name |
cyclin dependent kinase 17 |
| Synonyms |
Pctk2, 6430598J10Rik |
| MMRRC Submission |
044533-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
R6384 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
92996492-93086956 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93047827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 25
(L25P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069965]
[ENSMUST00000213378]
[ENSMUST00000214445]
[ENSMUST00000215286]
|
| AlphaFold |
Q8K0D0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069965
AA Change: L58P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000070355
Gene: ENSMUSG00000020015
AA Change: L58P
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
192 |
473 |
4.67e-97 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213378
AA Change: L58P
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214445
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215286
AA Change: L25P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215495
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It has similarity to a rat protein that is thought to play a role in terminally differentiated neurons. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
A |
5: 121,790,066 (GRCm39) |
T97S |
probably benign |
Het |
| Adam34 |
T |
A |
8: 44,103,836 (GRCm39) |
D603V |
probably benign |
Het |
| Adamts5 |
C |
T |
16: 85,659,716 (GRCm39) |
V859I |
probably benign |
Het |
| Alb |
T |
A |
5: 90,620,499 (GRCm39) |
D536E |
possibly damaging |
Het |
| Amz2 |
A |
G |
11: 109,319,860 (GRCm39) |
Y82C |
probably damaging |
Het |
| Asxl1 |
T |
C |
2: 153,233,744 (GRCm39) |
|
probably null |
Het |
| Bach1 |
C |
T |
16: 87,516,745 (GRCm39) |
Q429* |
probably null |
Het |
| Bcl6 |
A |
G |
16: 23,793,615 (GRCm39) |
Y111H |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,834,451 (GRCm39) |
V338A |
probably benign |
Het |
| Cdca3 |
C |
T |
6: 124,809,382 (GRCm39) |
P174L |
probably damaging |
Het |
| Cdr2 |
G |
A |
7: 120,581,351 (GRCm39) |
|
probably null |
Het |
| Cyp2c38 |
A |
T |
19: 39,380,737 (GRCm39) |
|
probably null |
Het |
| Ednra |
T |
C |
8: 78,415,723 (GRCm39) |
N175D |
probably damaging |
Het |
| Elp3 |
T |
C |
14: 65,797,660 (GRCm39) |
Y337C |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Eps15l1 |
A |
T |
8: 73,122,554 (GRCm39) |
|
probably null |
Het |
| F11r |
A |
G |
1: 171,288,508 (GRCm39) |
N117S |
probably benign |
Het |
| Foxp2 |
C |
T |
6: 15,437,947 (GRCm39) |
T716I |
probably damaging |
Het |
| Gnaq |
A |
G |
19: 16,293,377 (GRCm39) |
|
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gpr158 |
T |
C |
2: 21,831,099 (GRCm39) |
M733T |
probably damaging |
Het |
| Hdac7 |
G |
A |
15: 97,709,387 (GRCm39) |
Q48* |
probably null |
Het |
| Hmga2 |
G |
A |
10: 120,206,612 (GRCm39) |
|
probably benign |
Het |
| Itgb7 |
A |
G |
15: 102,132,886 (GRCm39) |
V142A |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,078,644 (GRCm39) |
N334D |
probably damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,100,317 (GRCm39) |
S298P |
probably benign |
Het |
| Map3k1 |
A |
T |
13: 111,887,064 (GRCm39) |
S1415R |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,670,607 (GRCm39) |
L424Q |
probably damaging |
Het |
| Numb |
A |
C |
12: 83,850,748 (GRCm39) |
L154R |
probably damaging |
Het |
| Or8g27 |
T |
C |
9: 39,129,274 (GRCm39) |
V207A |
probably benign |
Het |
| Or8k30 |
A |
G |
2: 86,339,381 (GRCm39) |
K193E |
probably benign |
Het |
| Pdcd5 |
G |
T |
7: 35,346,334 (GRCm39) |
A92E |
possibly damaging |
Het |
| Pdcl2 |
C |
T |
5: 76,478,855 (GRCm39) |
|
probably null |
Het |
| Rbfa |
T |
C |
18: 80,235,996 (GRCm39) |
Y251C |
probably damaging |
Het |
| Rgsl1 |
G |
A |
1: 153,703,291 (GRCm39) |
T120I |
possibly damaging |
Het |
| Serpina3g |
A |
G |
12: 104,206,655 (GRCm39) |
Q152R |
probably null |
Het |
| Setx |
T |
C |
2: 29,063,570 (GRCm39) |
S2289P |
probably damaging |
Het |
| Slc6a16 |
A |
G |
7: 44,907,017 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
C |
T |
6: 142,055,105 (GRCm39) |
D280N |
probably benign |
Het |
| Syde2 |
T |
A |
3: 145,704,568 (GRCm39) |
Y240N |
probably damaging |
Het |
| Synpo2 |
G |
A |
3: 122,906,698 (GRCm39) |
Q873* |
probably null |
Het |
| Tlr2 |
A |
G |
3: 83,744,301 (GRCm39) |
V594A |
probably benign |
Het |
| Ttc16 |
C |
T |
2: 32,657,561 (GRCm39) |
A512T |
probably damaging |
Het |
| Tubb5 |
T |
C |
17: 36,148,938 (GRCm39) |
E3G |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,824,136 (GRCm39) |
Y464H |
probably damaging |
Het |
| Xcr1 |
T |
A |
9: 123,684,847 (GRCm39) |
H305L |
probably damaging |
Het |
| Yars1 |
T |
G |
4: 129,090,771 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cdk17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Cdk17
|
APN |
10 |
93,062,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00781:Cdk17
|
APN |
10 |
93,068,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01622:Cdk17
|
APN |
10 |
93,074,824 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01623:Cdk17
|
APN |
10 |
93,074,824 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01732:Cdk17
|
APN |
10 |
93,053,907 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01768:Cdk17
|
APN |
10 |
93,044,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02942:Cdk17
|
APN |
10 |
93,074,830 (GRCm39) |
missense |
probably benign |
|
|
IGL03308:Cdk17
|
APN |
10 |
93,057,506 (GRCm39) |
critical splice donor site |
probably null |
|
|
delude
|
UTSW |
10 |
93,053,823 (GRCm39) |
splice site |
probably null |
|
|
Imagine
|
UTSW |
10 |
93,068,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Magician
|
UTSW |
10 |
93,064,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
prestidigitator
|
UTSW |
10 |
93,061,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4436_Cdk17_536
|
UTSW |
10 |
93,047,758 (GRCm39) |
splice site |
probably null |
|
|
R0039:Cdk17
|
UTSW |
10 |
93,062,640 (GRCm39) |
splice site |
probably benign |
|
|
R0398:Cdk17
|
UTSW |
10 |
93,073,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0432:Cdk17
|
UTSW |
10 |
93,073,652 (GRCm39) |
unclassified |
probably benign |
|
|
R0609:Cdk17
|
UTSW |
10 |
93,052,334 (GRCm39) |
missense |
probably benign |
|
|
R0781:Cdk17
|
UTSW |
10 |
93,074,895 (GRCm39) |
nonsense |
probably null |
|
|
R1110:Cdk17
|
UTSW |
10 |
93,074,895 (GRCm39) |
nonsense |
probably null |
|
|
R1604:Cdk17
|
UTSW |
10 |
93,068,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1674:Cdk17
|
UTSW |
10 |
93,057,492 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1758:Cdk17
|
UTSW |
10 |
93,044,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1797:Cdk17
|
UTSW |
10 |
93,044,114 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1864:Cdk17
|
UTSW |
10 |
93,061,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1924:Cdk17
|
UTSW |
10 |
93,061,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Cdk17
|
UTSW |
10 |
93,064,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Cdk17
|
UTSW |
10 |
93,053,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2207:Cdk17
|
UTSW |
10 |
93,064,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2261:Cdk17
|
UTSW |
10 |
93,047,820 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2262:Cdk17
|
UTSW |
10 |
93,047,820 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3737:Cdk17
|
UTSW |
10 |
93,057,506 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3883:Cdk17
|
UTSW |
10 |
93,047,939 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4436:Cdk17
|
UTSW |
10 |
93,047,758 (GRCm39) |
splice site |
probably null |
|
|
R5372:Cdk17
|
UTSW |
10 |
93,061,901 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5444:Cdk17
|
UTSW |
10 |
93,053,823 (GRCm39) |
splice site |
probably null |
|
|
R5488:Cdk17
|
UTSW |
10 |
93,068,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5489:Cdk17
|
UTSW |
10 |
93,068,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5815:Cdk17
|
UTSW |
10 |
93,064,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6164:Cdk17
|
UTSW |
10 |
93,071,331 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6209:Cdk17
|
UTSW |
10 |
93,044,093 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6627:Cdk17
|
UTSW |
10 |
93,068,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6698:Cdk17
|
UTSW |
10 |
93,064,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7164:Cdk17
|
UTSW |
10 |
93,068,343 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8096:Cdk17
|
UTSW |
10 |
93,052,229 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8118:Cdk17
|
UTSW |
10 |
93,052,252 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8459:Cdk17
|
UTSW |
10 |
93,068,289 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8670:Cdk17
|
UTSW |
10 |
93,061,958 (GRCm39) |
nonsense |
probably null |
|
|
R8722:Cdk17
|
UTSW |
10 |
93,064,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8829:Cdk17
|
UTSW |
10 |
93,042,920 (GRCm39) |
unclassified |
probably benign |
|
|
R9077:Cdk17
|
UTSW |
10 |
93,068,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9488:Cdk17
|
UTSW |
10 |
93,044,066 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9789:Cdk17
|
UTSW |
10 |
93,060,891 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATCGCCAAAGAAGTGAGCTTAC -3'
(R):5'- TGACAATGACAGAGGCTGGC -3'
Sequencing Primer
(F):5'- CATGTAAATGATCTCTGTTACAGCC -3'
(R):5'- GCTGGCTTTGTTCATACAATGACAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation