Incidental Mutation 'R1110:Cdk17'
| ID |
96657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk17
|
| Ensembl Gene |
ENSMUSG00000020015 |
| Gene Name |
cyclin dependent kinase 17 |
| Synonyms |
Pctk2, 6430598J10Rik |
| MMRRC Submission |
039183-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
R1110 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
92996492-93086956 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 93074895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 3
(Y3*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069965]
[ENSMUST00000215286]
|
| AlphaFold |
Q8K0D0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069965
AA Change: Y508*
|
| SMART Domains |
Protein: ENSMUSP00000070355
Gene: ENSMUSG00000020015
AA Change: Y508*
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
192 |
473 |
4.67e-97 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215286
AA Change: Y475*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216729
AA Change: Y3*
|
| Meta Mutation Damage Score |
0.9702 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.3%
|
| Validation Efficiency |
97% (63/65) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
T |
A |
4: 155,989,856 (GRCm39) |
|
probably null |
Het |
| Acp2 |
A |
G |
2: 91,038,767 (GRCm39) |
|
probably null |
Het |
| Akap13 |
T |
G |
7: 75,261,125 (GRCm39) |
S447A |
possibly damaging |
Het |
| Alk |
G |
A |
17: 72,291,740 (GRCm39) |
|
probably benign |
Het |
| Arhgef39 |
T |
C |
4: 43,496,834 (GRCm39) |
T327A |
probably benign |
Het |
| Calhm5 |
T |
G |
10: 33,972,013 (GRCm39) |
I141L |
probably benign |
Het |
| Cdan1 |
G |
A |
2: 120,551,083 (GRCm39) |
A1103V |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,474,403 (GRCm39) |
T758A |
probably benign |
Het |
| Cdon |
T |
C |
9: 35,367,733 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,222,119 (GRCm39) |
N460I |
probably benign |
Het |
| Cntrl |
T |
A |
2: 35,050,639 (GRCm39) |
C985S |
possibly damaging |
Het |
| Col6a2 |
T |
C |
10: 76,443,574 (GRCm39) |
E497G |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,875,089 (GRCm39) |
M673T |
possibly damaging |
Het |
| Cyp2u1 |
A |
G |
3: 131,087,258 (GRCm39) |
I441T |
possibly damaging |
Het |
| Disp2 |
T |
C |
2: 118,620,920 (GRCm39) |
S551P |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,206,535 (GRCm39) |
F1354I |
possibly damaging |
Het |
| Dstyk |
A |
G |
1: 132,381,063 (GRCm39) |
|
probably benign |
Het |
| Dzip1 |
T |
C |
14: 119,126,717 (GRCm39) |
N527S |
probably benign |
Het |
| Eomes |
A |
G |
9: 118,313,667 (GRCm39) |
I571V |
probably benign |
Het |
| Fbxl13 |
T |
C |
5: 21,689,034 (GRCm39) |
D758G |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,868,557 (GRCm39) |
S1457G |
probably damaging |
Het |
| Gabbr2 |
C |
T |
4: 46,718,838 (GRCm39) |
C613Y |
probably damaging |
Het |
| Gm9755 |
A |
T |
8: 67,967,710 (GRCm39) |
|
noncoding transcript |
Het |
| Hnrnpul2 |
A |
G |
19: 8,804,110 (GRCm39) |
R570G |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,810,320 (GRCm39) |
C588S |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,034,208 (GRCm39) |
H674R |
possibly damaging |
Het |
| Kdm5d |
T |
A |
Y: 910,539 (GRCm39) |
L250H |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 92,951,175 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,519,360 (GRCm39) |
N2250S |
probably benign |
Het |
| Kmt2e |
C |
T |
5: 23,707,653 (GRCm39) |
H1739Y |
probably damaging |
Het |
| Lmtk3 |
T |
A |
7: 45,444,427 (GRCm39) |
|
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,735,999 (GRCm39) |
D93G |
probably benign |
Het |
| Myh10 |
T |
C |
11: 68,682,676 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,172,413 (GRCm39) |
E1171K |
probably benign |
Het |
| Ncoa6 |
A |
T |
2: 155,253,440 (GRCm39) |
|
probably benign |
Het |
| Nup160 |
A |
G |
2: 90,563,563 (GRCm39) |
|
probably benign |
Het |
| Oit3 |
G |
A |
10: 59,264,016 (GRCm39) |
R373C |
probably damaging |
Het |
| Olfml2a |
A |
T |
2: 38,849,765 (GRCm39) |
I494L |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Or9r7 |
A |
G |
10: 129,962,522 (GRCm39) |
Y135H |
probably damaging |
Het |
| Parp6 |
G |
T |
9: 59,556,847 (GRCm39) |
C584F |
probably damaging |
Het |
| Pcgf2 |
A |
G |
11: 97,582,676 (GRCm39) |
|
probably benign |
Het |
| Pde3a |
T |
C |
6: 141,405,042 (GRCm39) |
|
probably benign |
Het |
| Pibf1 |
C |
T |
14: 99,350,409 (GRCm39) |
R186C |
probably damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,608,280 (GRCm39) |
D335G |
probably benign |
Het |
| Pkp4 |
T |
C |
2: 59,169,109 (GRCm39) |
L752P |
probably damaging |
Het |
| Plcb3 |
C |
A |
19: 6,939,281 (GRCm39) |
E566* |
probably null |
Het |
| Prune2 |
T |
C |
19: 17,102,586 (GRCm39) |
S2582P |
probably benign |
Het |
| Reln |
A |
T |
5: 22,239,773 (GRCm39) |
D831E |
probably benign |
Het |
| Samd9l |
T |
A |
6: 3,374,267 (GRCm39) |
D998V |
probably benign |
Het |
| Sardh |
G |
A |
2: 27,081,931 (GRCm39) |
T865I |
possibly damaging |
Het |
| Setbp1 |
G |
A |
18: 78,901,075 (GRCm39) |
T864I |
probably damaging |
Het |
| Slc9a1 |
T |
A |
4: 133,097,859 (GRCm39) |
M2K |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,248,767 (GRCm39) |
T593A |
probably benign |
Het |
| Spata31e3 |
A |
T |
13: 50,402,296 (GRCm39) |
D83E |
possibly damaging |
Het |
| Svs5 |
A |
T |
2: 164,175,507 (GRCm39) |
I120L |
probably benign |
Het |
| Tcl1b1 |
G |
T |
12: 105,126,074 (GRCm39) |
V19F |
probably damaging |
Het |
| Urgcp |
T |
C |
11: 5,666,004 (GRCm39) |
N778S |
probably benign |
Het |
| Vnn1 |
A |
T |
10: 23,775,499 (GRCm39) |
I250F |
possibly damaging |
Het |
| Xntrpc |
A |
G |
7: 101,732,181 (GRCm39) |
R365G |
possibly damaging |
Het |
| Zfp84 |
T |
A |
7: 29,470,797 (GRCm39) |
M1K |
probably null |
Het |
| Zfyve26 |
G |
A |
12: 79,326,841 (GRCm39) |
R761C |
probably damaging |
Het |
| Zp3r |
A |
G |
1: 130,505,621 (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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTTAACTGAGGGCTGCGGAAC -3'
(R):5'- ACATACAGAGTTGTGGGATGCACTG -3'
Sequencing Primer
(F):5'- CAAGACTTCTCGCGTAGAATTTGG -3'
(R):5'- GTGGGATGCACTGTACATTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation