Incidental Mutation 'IGL01768:Cdk17'
ID |
154016 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cdk17
|
Ensembl Gene |
ENSMUSG00000020015 |
Gene Name |
cyclin dependent kinase 17 |
Synonyms |
Pctk2, 6430598J10Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.295)
|
Stock # |
IGL01768
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
92996492-93086956 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 93044123 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 21
(S21P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149297
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069965]
[ENSMUST00000213378]
[ENSMUST00000214445]
[ENSMUST00000215286]
|
AlphaFold |
Q8K0D0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069965
AA Change: S21P
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000070355 Gene: ENSMUSG00000020015 AA Change: S21P
Domain | Start | End | E-Value | Type |
S_TKc
|
192 |
473 |
4.67e-97 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213378
AA Change: S21P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214445
AA Change: S21P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215286
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215495
|
Coding Region Coverage |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aifm3 |
T |
C |
16: 17,324,141 (GRCm39) |
V567A |
possibly damaging |
Het |
Arnt |
T |
C |
3: 95,398,327 (GRCm39) |
|
probably benign |
Het |
C8b |
G |
A |
4: 104,644,151 (GRCm39) |
E273K |
probably benign |
Het |
Capn5 |
C |
T |
7: 97,774,480 (GRCm39) |
R570H |
probably damaging |
Het |
Cdh9 |
A |
T |
15: 16,778,311 (GRCm39) |
D42V |
possibly damaging |
Het |
Cdkl3 |
T |
A |
11: 51,916,744 (GRCm39) |
F291I |
probably damaging |
Het |
Cfap210 |
A |
T |
2: 69,612,471 (GRCm39) |
|
probably benign |
Het |
Clmn |
T |
C |
12: 104,747,978 (GRCm39) |
E523G |
probably damaging |
Het |
Cyp4f14 |
A |
T |
17: 33,126,976 (GRCm39) |
I318N |
probably damaging |
Het |
Daam1 |
T |
A |
12: 72,036,659 (GRCm39) |
F1068L |
probably benign |
Het |
Ext2 |
A |
G |
2: 93,621,455 (GRCm39) |
|
probably benign |
Het |
F5 |
T |
A |
1: 164,003,914 (GRCm39) |
F236L |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,153,394 (GRCm39) |
V3606A |
probably damaging |
Het |
Gpam |
G |
A |
19: 55,075,952 (GRCm39) |
T220M |
probably benign |
Het |
Hyal1 |
C |
A |
9: 107,456,338 (GRCm39) |
L342I |
probably damaging |
Het |
Ilvbl |
C |
A |
10: 78,419,127 (GRCm39) |
P459T |
possibly damaging |
Het |
Itga5 |
A |
G |
15: 103,259,997 (GRCm39) |
Y632H |
probably benign |
Het |
Jkampl |
A |
T |
6: 73,445,899 (GRCm39) |
L217M |
possibly damaging |
Het |
Krt73 |
T |
C |
15: 101,707,291 (GRCm39) |
D299G |
probably benign |
Het |
Lcp1 |
T |
C |
14: 75,461,573 (GRCm39) |
V522A |
probably benign |
Het |
Lmo3 |
A |
G |
6: 138,393,495 (GRCm39) |
C53R |
probably damaging |
Het |
Nsun7 |
T |
C |
5: 66,436,043 (GRCm39) |
V305A |
probably benign |
Het |
Oprm1 |
T |
C |
10: 6,779,186 (GRCm39) |
S196P |
probably damaging |
Het |
Or2y1e |
G |
A |
11: 49,218,958 (GRCm39) |
C240Y |
probably damaging |
Het |
Or4z4 |
A |
T |
19: 12,076,403 (GRCm39) |
I200N |
probably damaging |
Het |
Or7e168 |
G |
A |
9: 19,720,456 (GRCm39) |
V281M |
possibly damaging |
Het |
Ovgp1 |
T |
C |
3: 105,888,667 (GRCm39) |
|
probably null |
Het |
Pcdhb20 |
T |
C |
18: 37,639,768 (GRCm39) |
F765L |
possibly damaging |
Het |
Ppp4r4 |
T |
C |
12: 103,547,664 (GRCm39) |
V3A |
probably benign |
Het |
Ruvbl1 |
A |
G |
6: 88,474,253 (GRCm39) |
I419V |
probably benign |
Het |
Scara5 |
T |
A |
14: 65,927,224 (GRCm39) |
C40* |
probably null |
Het |
Siglec1 |
T |
C |
2: 130,916,314 (GRCm39) |
Q1212R |
probably benign |
Het |
Slc31a1 |
G |
A |
4: 62,306,273 (GRCm39) |
|
probably null |
Het |
Sparc |
G |
T |
11: 55,296,069 (GRCm39) |
N87K |
probably damaging |
Het |
Tcf12 |
T |
C |
9: 71,776,278 (GRCm39) |
|
probably null |
Het |
Timm44 |
A |
T |
8: 4,316,860 (GRCm39) |
F258I |
probably benign |
Het |
Tm2d2 |
G |
T |
8: 25,508,095 (GRCm39) |
V80L |
possibly damaging |
Het |
Tpr |
A |
G |
1: 150,320,199 (GRCm39) |
D2249G |
possibly damaging |
Het |
Trim50 |
G |
T |
5: 135,392,736 (GRCm39) |
G217V |
possibly damaging |
Het |
Ugcg |
T |
C |
4: 59,217,216 (GRCm39) |
|
probably null |
Het |
Vmn2r107 |
A |
T |
17: 20,565,868 (GRCm39) |
H61L |
probably benign |
Het |
Zfp84 |
A |
G |
7: 29,476,091 (GRCm39) |
H261R |
probably benign |
Het |
Zswim2 |
A |
T |
2: 83,748,301 (GRCm39) |
M293K |
probably benign |
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 |
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 |
R6384:Cdk17
|
UTSW |
10 |
93,047,827 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
Posted On |
2014-02-04 |