Incidental Mutation 'R5131:Ccnk'
| ID |
395014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccnk
|
| Ensembl Gene |
ENSMUSG00000021258 |
| Gene Name |
cyclin K |
| Synonyms |
CycK, CPR4 |
| MMRRC Submission |
042719-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5131 (G1)
|
| Quality Score |
194 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
108145838-108169618 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 108168890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101055]
[ENSMUST00000136175]
[ENSMUST00000221167]
[ENSMUST00000222310]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000101055
AA Change: V560A
|
| SMART Domains |
Protein: ENSMUSP00000098616
Gene: ENSMUSG00000021258
AA Change: V560A
| 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 benign
Transcript: ENSMUST00000136175
|
| SMART Domains |
Protein: ENSMUSP00000125757
Gene: ENSMUSG00000084883
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
Pfam:DUF2216
|
16 |
220 |
6.9e-99 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000221167
AA Change: V560A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223363
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
C |
T |
4: 40,163,797 (GRCm39) |
P17S |
probably benign |
Het |
| Arhgap35 |
A |
G |
7: 16,245,112 (GRCm39) |
|
probably null |
Het |
| Brd3 |
A |
T |
2: 27,343,427 (GRCm39) |
N480K |
probably benign |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cdh1 |
T |
C |
8: 107,390,430 (GRCm39) |
V590A |
possibly damaging |
Het |
| Cert1 |
A |
G |
13: 96,751,343 (GRCm39) |
D331G |
probably damaging |
Het |
| Cic |
TCCCCC |
TCCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably benign |
Het |
| Cmklr2 |
T |
A |
1: 63,222,840 (GRCm39) |
S132C |
probably damaging |
Het |
| Cyp4a12a |
T |
A |
4: 115,185,017 (GRCm39) |
D399E |
possibly damaging |
Het |
| Dnah11 |
A |
C |
12: 117,918,486 (GRCm39) |
Y3482D |
probably damaging |
Het |
| Gtf3c3 |
A |
T |
1: 54,458,657 (GRCm39) |
|
probably null |
Het |
| Gzmk |
G |
T |
13: 113,310,482 (GRCm39) |
A73E |
probably benign |
Het |
| Hnrnpul1 |
A |
G |
7: 25,426,219 (GRCm39) |
V444A |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,678 (GRCm39) |
S864P |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,260,686 (GRCm39) |
V4515E |
possibly damaging |
Het |
| Map3k19 |
A |
T |
1: 127,751,427 (GRCm39) |
N641K |
possibly damaging |
Het |
| Mesp2 |
A |
G |
7: 79,461,475 (GRCm39) |
T267A |
possibly damaging |
Het |
| Mipep |
T |
C |
14: 61,140,823 (GRCm39) |
L682P |
probably damaging |
Het |
| Nalcn |
G |
T |
14: 123,753,182 (GRCm39) |
T268K |
probably damaging |
Het |
| Ncam2 |
T |
C |
16: 81,234,550 (GRCm39) |
V135A |
probably benign |
Het |
| Ndufaf6 |
G |
T |
4: 11,060,931 (GRCm39) |
T215K |
probably damaging |
Het |
| Nr1h4 |
T |
C |
10: 89,319,317 (GRCm39) |
D183G |
probably damaging |
Het |
| Pate9 |
C |
T |
9: 36,446,242 (GRCm39) |
A57T |
possibly damaging |
Het |
| Pax2 |
G |
T |
19: 44,749,394 (GRCm39) |
V41L |
probably damaging |
Het |
| Pde4dip |
T |
A |
3: 97,616,830 (GRCm39) |
N1804I |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 20,979,050 (GRCm39) |
V526E |
probably damaging |
Het |
| Ppp1ca |
G |
A |
19: 4,244,895 (GRCm39) |
C291Y |
probably damaging |
Het |
| Prag1 |
G |
T |
8: 36,607,123 (GRCm39) |
G955C |
probably damaging |
Het |
| Psap |
T |
A |
10: 60,135,736 (GRCm39) |
V394E |
possibly damaging |
Het |
| Rap1b |
C |
T |
10: 117,660,516 (GRCm39) |
V14I |
probably damaging |
Het |
| Rnf181 |
G |
A |
6: 72,337,811 (GRCm39) |
|
probably null |
Het |
| Rsbn1l |
G |
A |
5: 21,101,243 (GRCm39) |
R766C |
possibly damaging |
Het |
| Rusc2 |
C |
T |
4: 43,414,948 (GRCm39) |
P85S |
probably benign |
Het |
| Rxfp1 |
T |
C |
3: 79,559,471 (GRCm39) |
|
probably null |
Het |
| Serpinb6a |
T |
A |
13: 34,102,855 (GRCm39) |
M202L |
probably benign |
Het |
| Snd1 |
T |
C |
6: 28,885,049 (GRCm39) |
F800S |
probably damaging |
Het |
| Tbc1d2b |
G |
A |
9: 90,091,812 (GRCm39) |
T830I |
probably damaging |
Het |
| Tmem209 |
A |
T |
6: 30,497,166 (GRCm39) |
N183K |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,284,841 (GRCm39) |
D598G |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,545,607 (GRCm39) |
D622G |
probably damaging |
Het |
| Zbtb43 |
A |
T |
2: 33,344,778 (GRCm39) |
M112K |
probably 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 |
|
|
R5404:Ccnk
|
UTSW |
12 |
108,161,882 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5843:Ccnk
|
UTSW |
12 |
108,159,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGCAGTCCATGATGAAGACG -3'
(R):5'- ACTGTCTAGCATATACAAGGCG -3'
Sequencing Primer
(F):5'- AGGGCCCCTCCTATGGTG -3'
(R):5'- ATATACAAGGCGCCCTGCTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation