Incidental Mutation 'R2903:Ccnk'
| ID |
261558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccnk
|
| Ensembl Gene |
ENSMUSG00000021258 |
| Gene Name |
cyclin K |
| Synonyms |
CycK, CPR4 |
| MMRRC Submission |
040490-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2903 (G1)
|
| Quality Score |
143 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
108145838-108169618 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 108168647 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: V479A
|
| SMART Domains |
Protein: ENSMUSP00000098616
Gene: ENSMUSG00000021258
AA Change: V479A
| 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: V479A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223363
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230112D13Rik |
A |
T |
14: 34,233,898 (GRCm39) |
V131E |
unknown |
Het |
| Cd276 |
A |
G |
9: 58,444,603 (GRCm39) |
F123L |
probably benign |
Het |
| Ddr2 |
T |
A |
1: 169,825,730 (GRCm39) |
N290I |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,828,622 (GRCm39) |
V937A |
possibly damaging |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gpt |
A |
G |
15: 76,582,666 (GRCm39) |
D37G |
probably damaging |
Het |
| Grik3 |
T |
A |
4: 125,564,437 (GRCm39) |
L473Q |
probably damaging |
Het |
| Hsp90b1 |
A |
C |
10: 86,539,349 (GRCm39) |
I90S |
probably damaging |
Het |
| Ift56 |
T |
C |
6: 38,378,037 (GRCm39) |
V283A |
possibly damaging |
Het |
| Ing5 |
G |
A |
1: 93,731,710 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kdr |
T |
C |
5: 76,127,069 (GRCm39) |
Y307C |
probably damaging |
Het |
| Or51t4 |
A |
T |
7: 102,598,661 (GRCm39) |
M320L |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,677,854 (GRCm39) |
K161R |
probably damaging |
Het |
| Rassf10 |
A |
T |
7: 112,553,756 (GRCm39) |
D119V |
possibly damaging |
Het |
| Samhd1 |
A |
T |
2: 156,965,335 (GRCm39) |
F160Y |
possibly damaging |
Het |
| Sh3bp2 |
T |
A |
5: 34,700,900 (GRCm39) |
C34* |
probably null |
Het |
| Six3 |
A |
G |
17: 85,931,283 (GRCm39) |
E313G |
probably damaging |
Het |
| Tas2r118 |
A |
G |
6: 23,969,801 (GRCm39) |
F87L |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,864,378 (GRCm39) |
L591P |
probably damaging |
Het |
| Trav17 |
A |
C |
14: 54,044,123 (GRCm39) |
S10R |
probably benign |
Het |
| Ttll3 |
T |
C |
6: 113,384,284 (GRCm39) |
F534S |
probably damaging |
Het |
| Umodl1 |
T |
A |
17: 31,211,147 (GRCm39) |
V890E |
probably damaging |
Het |
| Uso1 |
G |
A |
5: 92,343,294 (GRCm39) |
|
probably null |
Het |
| Utrn |
A |
G |
10: 12,519,172 (GRCm39) |
I2260T |
probably damaging |
Het |
| Vav1 |
A |
G |
17: 57,613,187 (GRCm39) |
N620D |
probably benign |
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 |
|
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 |
|
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'- TGATCTCCCCAAAGTCCAGATTC -3'
(R):5'- ATATACAAGGCGCCCTGCTG -3'
Sequencing Primer
(F):5'- AGTCCAGATTCCCCCTCCAG -3'
(R):5'- GGCAAACCCAAGCCTGGAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation