Incidental Mutation 'R5843:Ccnk'
| ID |
450556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccnk
|
| Ensembl Gene |
ENSMUSG00000021258 |
| Gene Name |
cyclin K |
| Synonyms |
CycK, CPR4 |
| MMRRC Submission |
043224-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5843 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
108145838-108169618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108159989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 157
(V157A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101055]
[ENSMUST00000221167]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101055
AA Change: V157A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098616
Gene: ENSMUSG00000021258
AA Change: V157A
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
55 |
149 |
6.67e-16 |
SMART |
|
Cyclin_C
|
158 |
278 |
4.83e-1 |
SMART |
|
CYCLIN
|
162 |
256 |
1.23e-1 |
SMART |
|
low complexity region
|
342 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
576 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221167
AA Change: V157A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| 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 is a member of the transcription cyclin family. These cyclins may regulate transcription through their association with and activation of cyclin-dependent kinases (CDK) that phosphorylate the C-terminal domain (CTD) of the large subunit of RNA polymerase II. This gene product may play a dual role in regulating CDK and RNA polymerase II activities. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele display complete embryonic lethality before implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
A |
G |
1: 89,537,272 (GRCm39) |
T93A |
probably damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,232,312 (GRCm39) |
|
probably null |
Het |
| Cdh10 |
T |
C |
15: 18,985,286 (GRCm39) |
F317L |
possibly damaging |
Het |
| Chn1 |
A |
G |
2: 73,510,092 (GRCm39) |
I139T |
probably benign |
Het |
| Creld2 |
A |
T |
15: 88,710,632 (GRCm39) |
D349V |
probably damaging |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,854,289 (GRCm39) |
D1660G |
probably damaging |
Het |
| Hipk3 |
A |
C |
2: 104,270,569 (GRCm39) |
S470R |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,717,912 (GRCm39) |
I37K |
probably damaging |
Het |
| Hpcal1 |
T |
C |
12: 17,841,200 (GRCm39) |
F193L |
probably benign |
Het |
| Hps4 |
T |
C |
5: 112,497,296 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
T |
C |
7: 80,375,828 (GRCm39) |
N1349S |
probably benign |
Het |
| Khk |
A |
G |
5: 31,079,275 (GRCm39) |
I6V |
possibly damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lrch3 |
T |
C |
16: 32,818,896 (GRCm39) |
V629A |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Muc13 |
A |
G |
16: 33,626,421 (GRCm39) |
Y320C |
probably damaging |
Het |
| Or2aj4 |
T |
A |
16: 19,385,333 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,209,076 (GRCm39) |
R234S |
probably benign |
Het |
| Or5ac21 |
T |
A |
16: 59,123,724 (GRCm39) |
D69E |
probably damaging |
Het |
| Parpbp |
A |
G |
10: 87,969,053 (GRCm39) |
L131P |
probably damaging |
Het |
| Prl3a1 |
T |
C |
13: 27,454,093 (GRCm39) |
W24R |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,369,060 (GRCm39) |
N677K |
probably damaging |
Het |
| Rbm39 |
A |
T |
2: 156,004,793 (GRCm39) |
D181E |
possibly damaging |
Het |
| Ros1 |
T |
C |
10: 52,042,293 (GRCm39) |
T220A |
possibly damaging |
Het |
| Slc46a3 |
T |
C |
5: 147,823,021 (GRCm39) |
I274V |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,661,938 (GRCm39) |
N257I |
probably damaging |
Het |
| Timeless |
A |
G |
10: 128,080,113 (GRCm39) |
|
probably null |
Het |
| Tmem63a |
T |
C |
1: 180,800,398 (GRCm39) |
|
probably null |
Het |
| Traf5 |
T |
C |
1: 191,729,446 (GRCm39) |
D535G |
possibly damaging |
Het |
| Trank1 |
C |
T |
9: 111,194,928 (GRCm39) |
S984L |
possibly damaging |
Het |
| Trpm6 |
A |
G |
19: 18,833,539 (GRCm39) |
T1573A |
probably benign |
Het |
| Ube3b |
T |
A |
5: 114,550,360 (GRCm39) |
I835N |
probably damaging |
Het |
| Wnt16 |
T |
A |
6: 22,290,947 (GRCm39) |
I125N |
probably damaging |
Het |
| Xirp2 |
G |
T |
2: 67,307,129 (GRCm39) |
|
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,596,405 (GRCm39) |
F624S |
possibly damaging |
Het |
| Zc3h12c |
G |
T |
9: 52,027,982 (GRCm39) |
T460K |
probably benign |
Het |
| Zfp865 |
C |
A |
7: 5,033,416 (GRCm39) |
T467K |
probably benign |
Het |
| Zim1 |
A |
G |
7: 6,680,697 (GRCm39) |
V322A |
possibly damaging |
Het |
|
| Other mutations in Ccnk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02331:Ccnk
|
APN |
12 |
108,155,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02341:Ccnk
|
APN |
12 |
108,161,989 (GRCm39) |
missense |
unknown |
|
|
IGL02557:Ccnk
|
APN |
12 |
108,161,985 (GRCm39) |
missense |
unknown |
|
|
FR4449:Ccnk
|
UTSW |
12 |
108,168,766 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Ccnk
|
UTSW |
12 |
108,168,766 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Ccnk
|
UTSW |
12 |
108,168,766 (GRCm39) |
unclassified |
probably benign |
|
|
R0481:Ccnk
|
UTSW |
12 |
108,165,568 (GRCm39) |
unclassified |
probably benign |
|
|
R0725:Ccnk
|
UTSW |
12 |
108,161,834 (GRCm39) |
splice site |
probably benign |
|
|
R1839:Ccnk
|
UTSW |
12 |
108,161,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Ccnk
|
UTSW |
12 |
108,155,349 (GRCm39) |
missense |
probably null |
1.00 |
|
R2903:Ccnk
|
UTSW |
12 |
108,168,647 (GRCm39) |
unclassified |
probably benign |
|
|
R4660:Ccnk
|
UTSW |
12 |
108,168,575 (GRCm39) |
unclassified |
probably benign |
|
|
R5131:Ccnk
|
UTSW |
12 |
108,168,890 (GRCm39) |
unclassified |
probably benign |
|
|
R5404:Ccnk
|
UTSW |
12 |
108,161,882 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5860:Ccnk
|
UTSW |
12 |
108,153,466 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6522:Ccnk
|
UTSW |
12 |
108,153,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6864:Ccnk
|
UTSW |
12 |
108,168,473 (GRCm39) |
unclassified |
probably benign |
|
|
R7135:Ccnk
|
UTSW |
12 |
108,152,734 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7179:Ccnk
|
UTSW |
12 |
108,153,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7278:Ccnk
|
UTSW |
12 |
108,159,964 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7592:Ccnk
|
UTSW |
12 |
108,152,724 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8191:Ccnk
|
UTSW |
12 |
108,159,933 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8271:Ccnk
|
UTSW |
12 |
108,162,114 (GRCm39) |
splice site |
probably benign |
|
|
R8273:Ccnk
|
UTSW |
12 |
108,152,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9155:Ccnk
|
UTSW |
12 |
108,159,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9279:Ccnk
|
UTSW |
12 |
108,161,946 (GRCm39) |
missense |
unknown |
|
|
R9558:Ccnk
|
UTSW |
12 |
108,155,397 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9566:Ccnk
|
UTSW |
12 |
108,152,695 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGGCGGTTTAGATTACTAC -3'
(R):5'- ACTGGCTTCTAGAATGGCAAG -3'
Sequencing Primer
(F):5'- CTACTGTGTGCTCATGTAACAGACTG -3'
(R):5'- GCTTCTAGAATGGCAAGTTTTTATG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation