Incidental Mutation 'R6164:Cdk17'
| ID |
490059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk17
|
| Ensembl Gene |
ENSMUSG00000020015 |
| Gene Name |
cyclin dependent kinase 17 |
| Synonyms |
Pctk2, 6430598J10Rik |
| MMRRC Submission |
044310-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
R6164 (G1)
|
| Quality Score |
219.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
92996492-93086956 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93071331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 351
(S351P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069965]
[ENSMUST00000215286]
|
| AlphaFold |
Q8K0D0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069965
AA Change: S384P
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000070355
Gene: ENSMUSG00000020015
AA Change: S384P
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
192 |
473 |
4.67e-97 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215286
AA Change: S351P
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216729
|
| Meta Mutation Damage Score |
0.2610 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
98% (61/62) |
| 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 |
|---|
| Anpep |
A |
G |
7: 79,491,953 (GRCm39) |
I16T |
possibly damaging |
Het |
| Ap1s1 |
T |
C |
5: 137,066,240 (GRCm39) |
|
probably benign |
Het |
| Atp1a2 |
T |
C |
1: 172,106,459 (GRCm39) |
S848G |
probably damaging |
Het |
| Bche |
T |
A |
3: 73,608,389 (GRCm39) |
I346F |
possibly damaging |
Het |
| Ccdc148 |
T |
A |
2: 58,713,645 (GRCm39) |
Y502F |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,919,642 (GRCm39) |
M416V |
probably damaging |
Het |
| Cfap100 |
T |
C |
6: 90,392,768 (GRCm39) |
E114G |
probably benign |
Het |
| Clec4a4 |
T |
C |
6: 122,968,833 (GRCm39) |
I66T |
possibly damaging |
Het |
| Cpeb4 |
T |
C |
11: 31,870,584 (GRCm39) |
|
probably null |
Het |
| Cybrd1 |
T |
C |
2: 70,948,618 (GRCm39) |
V52A |
probably damaging |
Het |
| Decr1 |
G |
A |
4: 15,924,347 (GRCm39) |
A191V |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,378,489 (GRCm39) |
I2942L |
probably benign |
Het |
| Ehd4 |
C |
T |
2: 119,932,689 (GRCm39) |
V246I |
possibly damaging |
Het |
| Ercc6l2 |
A |
G |
13: 64,020,158 (GRCm39) |
|
probably benign |
Het |
| Exoc4 |
T |
A |
6: 33,309,218 (GRCm39) |
M280K |
probably damaging |
Het |
| Fmo1 |
T |
G |
1: 162,678,979 (GRCm39) |
E89A |
probably benign |
Het |
| Foxm1 |
A |
G |
6: 128,350,898 (GRCm39) |
D733G |
probably benign |
Het |
| Garin5b |
T |
C |
7: 4,773,677 (GRCm39) |
T73A |
probably damaging |
Het |
| Gulp1 |
A |
C |
1: 44,793,511 (GRCm39) |
R57S |
probably damaging |
Het |
| Hdac1-ps |
T |
C |
17: 78,799,716 (GRCm39) |
S236P |
probably damaging |
Het |
| Hdac4 |
G |
T |
1: 91,957,876 (GRCm39) |
A46E |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,241,966 (GRCm39) |
S567P |
possibly damaging |
Het |
| Insyn1 |
C |
A |
9: 58,406,530 (GRCm39) |
P147T |
probably damaging |
Het |
| Iqgap1 |
A |
C |
7: 80,458,854 (GRCm39) |
C21W |
unknown |
Het |
| Isoc2a |
T |
C |
7: 4,894,488 (GRCm39) |
L57P |
probably damaging |
Het |
| Krt34 |
G |
A |
11: 99,929,272 (GRCm39) |
Q313* |
probably null |
Het |
| Krt6a |
C |
T |
15: 101,601,008 (GRCm39) |
V263I |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 65,040,719 (GRCm39) |
I106V |
possibly damaging |
Het |
| Muc16 |
T |
C |
9: 18,469,675 (GRCm39) |
D7300G |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,417,082 (GRCm39) |
S3343C |
possibly damaging |
Het |
| Mup11 |
C |
T |
4: 60,618,239 (GRCm39) |
E21K |
possibly damaging |
Het |
| Myo3b |
T |
A |
2: 70,075,754 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
T |
C |
7: 6,095,507 (GRCm39) |
L795P |
probably damaging |
Het |
| Nup160 |
T |
A |
2: 90,548,220 (GRCm39) |
Y984* |
probably null |
Het |
| Nwd1 |
C |
T |
8: 73,388,814 (GRCm39) |
R81W |
probably damaging |
Het |
| Or2d3 |
G |
T |
7: 106,491,135 (GRCm39) |
Y60* |
probably null |
Het |
| Or5p52 |
A |
G |
7: 107,502,595 (GRCm39) |
T224A |
probably benign |
Het |
| Osmr |
A |
G |
15: 6,889,833 (GRCm39) |
V5A |
probably benign |
Het |
| Pabir1 |
T |
A |
19: 24,454,450 (GRCm39) |
M91L |
probably benign |
Het |
| Pcsk5 |
A |
G |
19: 17,814,317 (GRCm39) |
|
probably null |
Het |
| Pex11a |
G |
A |
7: 79,387,127 (GRCm39) |
T235M |
probably damaging |
Het |
| Pik3r6 |
A |
G |
11: 68,442,799 (GRCm39) |
T730A |
probably benign |
Het |
| Ppp1r9a |
C |
T |
6: 5,110,715 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2d |
T |
C |
7: 138,474,742 (GRCm39) |
I41T |
probably damaging |
Het |
| Prdm1 |
C |
T |
10: 44,326,191 (GRCm39) |
R126H |
probably damaging |
Het |
| Primpol |
C |
T |
8: 47,039,477 (GRCm39) |
R381H |
probably benign |
Het |
| Prl7a1 |
C |
A |
13: 27,821,626 (GRCm39) |
Q102H |
probably benign |
Het |
| Rbpjl |
T |
C |
2: 164,252,799 (GRCm39) |
L284P |
probably damaging |
Het |
| Rgs21 |
A |
T |
1: 144,417,035 (GRCm39) |
C6S |
probably benign |
Het |
| Rnasel |
T |
C |
1: 153,630,138 (GRCm39) |
V218A |
probably benign |
Het |
| Sag |
G |
T |
1: 87,752,175 (GRCm39) |
V223L |
probably damaging |
Het |
| Sdk1 |
C |
T |
5: 142,117,824 (GRCm39) |
T1574M |
probably damaging |
Het |
| Secisbp2 |
G |
A |
13: 51,833,896 (GRCm39) |
V679M |
probably damaging |
Het |
| Sele |
T |
A |
1: 163,879,386 (GRCm39) |
|
probably null |
Het |
| Senp7 |
T |
A |
16: 55,990,117 (GRCm39) |
L622M |
probably damaging |
Het |
| Sgo1 |
G |
A |
17: 53,983,981 (GRCm39) |
R466C |
probably damaging |
Het |
| Sh3tc1 |
C |
A |
5: 35,863,590 (GRCm39) |
V866L |
probably benign |
Het |
| Snrnp25 |
T |
A |
11: 32,157,647 (GRCm39) |
V75D |
probably benign |
Het |
| Syne1 |
C |
T |
10: 5,011,429 (GRCm39) |
C7899Y |
probably damaging |
Het |
| U2af1l4 |
T |
C |
7: 30,264,007 (GRCm39) |
S55P |
probably damaging |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,040 (GRCm39) |
I246T |
possibly damaging |
Het |
| Vmn1r66 |
T |
A |
7: 10,008,329 (GRCm39) |
R235* |
probably null |
Het |
| Wnk4 |
C |
T |
11: 101,165,894 (GRCm39) |
A807V |
possibly damaging |
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 |
|
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'- TTGCCATAGCGATAGTCAGC -3'
(R):5'- CCAGCGGCAGTTCTTATCAG -3'
Sequencing Primer
(F):5'- TAGCGATAGTCAGCACTCCATC -3'
(R):5'- AGTCAACTGCAGGTGTGA -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation