Incidental Mutation 'IGL03308:Cdk17'
| ID |
416472 |
| 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: 0.372)
|
| Stock # |
IGL03308
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
92996492-93086956 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 93057506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069965]
[ENSMUST00000215286]
|
| AlphaFold |
Q8K0D0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069965
|
| SMART Domains |
Protein: ENSMUSP00000070355
Gene: ENSMUSG00000020015
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
192 |
473 |
4.67e-97 |
SMART |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
C |
4: 144,182,821 (GRCm39) |
I216V |
probably damaging |
Het |
| Abcc1 |
A |
G |
16: 14,288,475 (GRCm39) |
I1367V |
possibly damaging |
Het |
| Ap1g2 |
T |
A |
14: 55,342,333 (GRCm39) |
I175F |
probably benign |
Het |
| Atad2 |
A |
G |
15: 57,965,919 (GRCm39) |
V671A |
probably benign |
Het |
| Ccdc134 |
A |
G |
15: 82,015,721 (GRCm39) |
D67G |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,369,777 (GRCm39) |
|
probably benign |
Het |
| Col5a3 |
A |
G |
9: 20,719,675 (GRCm39) |
L228P |
unknown |
Het |
| Eef1a2 |
A |
G |
2: 180,790,629 (GRCm39) |
|
probably benign |
Het |
| Fars2 |
T |
G |
13: 36,388,670 (GRCm39) |
I53R |
possibly damaging |
Het |
| Frmd4a |
G |
T |
2: 4,502,837 (GRCm39) |
A98S |
possibly damaging |
Het |
| Gprin1 |
T |
A |
13: 54,887,957 (GRCm39) |
M106L |
probably benign |
Het |
| Hspb8 |
T |
C |
5: 116,547,401 (GRCm39) |
T194A |
possibly damaging |
Het |
| Ift27 |
A |
G |
15: 78,050,215 (GRCm39) |
S65P |
probably damaging |
Het |
| Inpp5d |
A |
C |
1: 87,630,919 (GRCm39) |
Y430S |
probably damaging |
Het |
| Kat6b |
T |
C |
14: 21,674,902 (GRCm39) |
S356P |
probably damaging |
Het |
| Limch1 |
C |
T |
5: 67,159,901 (GRCm39) |
T443M |
possibly damaging |
Het |
| Mcf2l |
C |
T |
8: 13,059,512 (GRCm39) |
R708C |
probably damaging |
Het |
| Mlf1 |
T |
C |
3: 67,305,140 (GRCm39) |
W214R |
probably damaging |
Het |
| Naga |
A |
T |
15: 82,220,088 (GRCm39) |
L153Q |
probably damaging |
Het |
| Nbas |
A |
G |
12: 13,374,349 (GRCm39) |
Q559R |
possibly damaging |
Het |
| Or2ab1 |
T |
C |
11: 58,488,525 (GRCm39) |
F101S |
probably damaging |
Het |
| Or2t6 |
T |
A |
14: 14,175,161 (GRCm38) |
H307L |
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,255,399 (GRCm39) |
D1148G |
possibly damaging |
Het |
| Prss23 |
A |
C |
7: 89,158,938 (GRCm39) |
L377R |
probably benign |
Het |
| Ptprc |
G |
T |
1: 138,054,058 (GRCm39) |
T27K |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,364,998 (GRCm39) |
T4553A |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Skint3 |
T |
C |
4: 112,111,264 (GRCm39) |
F130L |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,749,624 (GRCm39) |
|
probably benign |
Het |
| Stau1 |
T |
C |
2: 166,792,240 (GRCm39) |
N433D |
probably damaging |
Het |
| Tapbpl |
G |
A |
6: 125,205,142 (GRCm39) |
A268V |
possibly damaging |
Het |
| Tmem131l |
T |
C |
3: 83,848,209 (GRCm39) |
I314V |
probably benign |
Het |
| Tmem44 |
A |
G |
16: 30,362,566 (GRCm39) |
W151R |
probably damaging |
Het |
| Tnnc1 |
T |
C |
14: 30,931,798 (GRCm39) |
|
probably benign |
Het |
| Traf5 |
T |
G |
1: 191,729,461 (GRCm39) |
N530T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,576,907 (GRCm39) |
I24662T |
probably damaging |
Het |
| Vmn1r49 |
A |
T |
6: 90,049,341 (GRCm39) |
H220Q |
possibly damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,498,785 (GRCm39) |
C375* |
probably null |
Het |
| Vps26b |
T |
C |
9: 26,940,796 (GRCm39) |
Y41C |
probably damaging |
Het |
| Wdr64 |
T |
C |
1: 175,594,562 (GRCm39) |
|
probably benign |
Het |
| Xylt1 |
C |
T |
7: 117,236,978 (GRCm39) |
Q576* |
probably null |
Het |
| Zfp106 |
T |
C |
2: 120,354,505 (GRCm39) |
D1422G |
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 |
|
IGL01768:Cdk17
|
APN |
10 |
93,044,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02942:Cdk17
|
APN |
10 |
93,074,830 (GRCm39) |
missense |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation