Incidental Mutation 'IGL00087:Cdk17'
ID |
1222 |
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 # |
IGL00087
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
92996492-93086956 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 93062633 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 257
(V257D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150873
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069965]
[ENSMUST00000215286]
|
AlphaFold |
Q8K0D0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069965
AA Change: V290D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000070355 Gene: ENSMUSG00000020015 AA Change: V290D
Domain | Start | End | E-Value | Type |
S_TKc
|
192 |
473 |
4.67e-97 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215286
AA Change: V257D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432M17Rik |
C |
A |
3: 121,473,282 (GRCm39) |
|
probably benign |
Het |
Actr2 |
C |
A |
11: 20,044,370 (GRCm39) |
V79L |
probably benign |
Het |
Ankrd36 |
A |
C |
11: 5,570,131 (GRCm39) |
Y533S |
probably benign |
Het |
Btnl1 |
A |
T |
17: 34,600,091 (GRCm39) |
D198V |
probably damaging |
Het |
Carmil2 |
T |
A |
8: 106,418,038 (GRCm39) |
I684N |
probably benign |
Het |
Ctsj |
T |
G |
13: 61,149,232 (GRCm39) |
S271R |
possibly damaging |
Het |
Cul9 |
T |
A |
17: 46,836,635 (GRCm39) |
Q1130L |
probably damaging |
Het |
Daam1 |
G |
T |
12: 71,988,993 (GRCm39) |
S131I |
unknown |
Het |
Dab1 |
G |
A |
4: 104,536,007 (GRCm39) |
V139M |
probably damaging |
Het |
Dab1 |
A |
T |
4: 104,535,950 (GRCm39) |
I120F |
possibly damaging |
Het |
Dnah2 |
A |
G |
11: 69,383,498 (GRCm39) |
V1142A |
possibly damaging |
Het |
Dsg1b |
C |
T |
18: 20,529,533 (GRCm39) |
T326I |
probably damaging |
Het |
Eif3k |
A |
C |
7: 28,674,101 (GRCm39) |
|
probably benign |
Het |
Fam76b |
T |
C |
9: 13,748,180 (GRCm39) |
V3A |
possibly damaging |
Het |
Fitm2 |
A |
G |
2: 163,311,712 (GRCm39) |
V167A |
probably benign |
Het |
Gfap |
T |
A |
11: 102,779,544 (GRCm39) |
I418F |
possibly damaging |
Het |
Grm5 |
T |
C |
7: 87,779,989 (GRCm39) |
V1143A |
probably benign |
Het |
Itpr2 |
A |
G |
6: 146,298,510 (GRCm39) |
I317T |
probably damaging |
Het |
Itprid1 |
T |
A |
6: 55,945,022 (GRCm39) |
L581Q |
possibly damaging |
Het |
Kcnn2 |
A |
C |
18: 45,725,303 (GRCm39) |
R266S |
probably damaging |
Het |
Kntc1 |
T |
A |
5: 123,928,222 (GRCm39) |
S1240T |
probably benign |
Het |
Lmnb2 |
T |
C |
10: 80,739,871 (GRCm39) |
D490G |
possibly damaging |
Het |
Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
Or3a1b |
A |
T |
11: 74,012,705 (GRCm39) |
I197F |
probably benign |
Het |
Pax9 |
A |
G |
12: 56,746,860 (GRCm39) |
N232S |
probably benign |
Het |
Pdcd6ip |
A |
G |
9: 113,526,586 (GRCm39) |
S108P |
possibly damaging |
Het |
Pitpnc1 |
T |
C |
11: 107,103,469 (GRCm39) |
E210G |
possibly damaging |
Het |
Prdm10 |
T |
C |
9: 31,272,108 (GRCm39) |
|
probably benign |
Het |
Prl4a1 |
G |
A |
13: 28,205,443 (GRCm39) |
G136E |
probably damaging |
Het |
Pstpip2 |
A |
G |
18: 77,961,994 (GRCm39) |
S255G |
probably benign |
Het |
Rimbp3 |
T |
G |
16: 17,027,607 (GRCm39) |
S344A |
probably benign |
Het |
Rint1 |
A |
G |
5: 23,999,429 (GRCm39) |
T73A |
probably benign |
Het |
Rnf145 |
T |
C |
11: 44,446,039 (GRCm39) |
V291A |
possibly damaging |
Het |
Rrm1 |
T |
A |
7: 102,103,714 (GRCm39) |
L221* |
probably null |
Het |
Scn11a |
A |
G |
9: 119,599,572 (GRCm39) |
L1114P |
probably benign |
Het |
Slc44a4 |
A |
G |
17: 35,149,216 (GRCm39) |
|
probably benign |
Het |
Sorl1 |
A |
C |
9: 41,885,390 (GRCm39) |
N2070K |
probably damaging |
Het |
Spaca7 |
C |
T |
8: 12,630,941 (GRCm39) |
|
probably benign |
Het |
Speer1k |
C |
T |
5: 10,997,805 (GRCm39) |
|
probably benign |
Het |
Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
Srsf6 |
G |
T |
2: 162,773,627 (GRCm39) |
V13F |
probably damaging |
Het |
Stab1 |
G |
T |
14: 30,883,314 (GRCm39) |
T336N |
probably benign |
Het |
Strbp |
A |
G |
2: 37,476,516 (GRCm39) |
|
probably benign |
Het |
Tbc1d4 |
A |
G |
14: 101,845,548 (GRCm39) |
F117L |
probably damaging |
Het |
Tcf20 |
A |
G |
15: 82,739,096 (GRCm39) |
V785A |
probably damaging |
Het |
Ticrr |
A |
G |
7: 79,327,031 (GRCm39) |
K580E |
probably damaging |
Het |
Ubr4 |
A |
T |
4: 139,192,633 (GRCm39) |
E4225D |
possibly damaging |
Het |
Uck1 |
A |
T |
2: 32,149,681 (GRCm39) |
V66D |
probably damaging |
Het |
Vmn2r25 |
A |
G |
6: 123,830,130 (GRCm39) |
F7S |
probably benign |
Het |
Zan |
C |
T |
5: 137,386,082 (GRCm39) |
|
probably null |
Het |
Zfp819 |
T |
A |
7: 43,261,403 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Cdk17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2011-07-12 |