Incidental Mutation 'R5404:Ccnk'
| ID |
428639 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccnk
|
| Ensembl Gene |
ENSMUSG00000021258 |
| Gene Name |
cyclin K |
| Synonyms |
CycK, CPR4 |
| MMRRC Submission |
042975-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5404 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
108145838-108169618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108161882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 262
(K262N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101055]
[ENSMUST00000221167]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101055
AA Change: K262N
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098616
Gene: ENSMUSG00000021258
AA Change: K262N
| 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 |
possibly damaging
Transcript: ENSMUST00000221167
AA Change: K262N
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223363
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
C |
15: 60,791,545 (GRCm39) |
H297R |
probably benign |
Het |
| Clec4b2 |
A |
T |
6: 123,158,308 (GRCm39) |
Y58F |
probably benign |
Het |
| Cp |
A |
C |
3: 20,043,292 (GRCm39) |
T1027P |
possibly damaging |
Het |
| Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
| Cry1 |
T |
C |
10: 85,020,283 (GRCm39) |
N18S |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock10 |
A |
G |
1: 80,481,630 (GRCm39) |
|
probably benign |
Het |
| Fance |
A |
T |
17: 28,537,034 (GRCm39) |
R58W |
probably null |
Het |
| Fermt1 |
T |
C |
2: 132,776,789 (GRCm39) |
D233G |
possibly damaging |
Het |
| Gabpa |
T |
A |
16: 84,657,351 (GRCm39) |
Y409N |
probably damaging |
Het |
| Gpr162 |
A |
G |
6: 124,838,606 (GRCm39) |
S15P |
possibly damaging |
Het |
| Grid2 |
T |
A |
6: 63,907,894 (GRCm39) |
I178N |
probably damaging |
Het |
| Il17re |
T |
C |
6: 113,446,063 (GRCm39) |
V233A |
probably benign |
Het |
| Lemd3 |
G |
A |
10: 120,767,863 (GRCm39) |
Q672* |
probably null |
Het |
| Myh15 |
A |
G |
16: 48,980,341 (GRCm39) |
T1488A |
probably benign |
Het |
| Narf |
T |
A |
11: 121,133,452 (GRCm39) |
H84Q |
probably benign |
Het |
| Nedd1 |
C |
T |
10: 92,552,054 (GRCm39) |
V69I |
probably benign |
Het |
| Nfil3 |
G |
A |
13: 53,122,091 (GRCm39) |
S271F |
probably damaging |
Het |
| Npc1 |
A |
G |
18: 12,346,356 (GRCm39) |
L280P |
possibly damaging |
Het |
| Or2n1e |
T |
A |
17: 38,586,517 (GRCm39) |
L285* |
probably null |
Het |
| Or4p20 |
C |
T |
2: 88,254,145 (GRCm39) |
V75M |
probably damaging |
Het |
| Or51a25 |
T |
A |
7: 102,372,807 (GRCm39) |
I297F |
possibly damaging |
Het |
| Poli |
A |
G |
18: 70,642,503 (GRCm39) |
S503P |
probably benign |
Het |
| Rbm5 |
T |
C |
9: 107,642,752 (GRCm39) |
E94G |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Rps6ka5 |
T |
C |
12: 100,582,352 (GRCm39) |
I173M |
probably damaging |
Het |
| Slc40a1 |
A |
G |
1: 45,951,488 (GRCm39) |
L223P |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,806,131 (GRCm39) |
K213E |
probably damaging |
Het |
| Spem1 |
T |
A |
11: 69,711,763 (GRCm39) |
K300N |
probably damaging |
Het |
| Tchh |
A |
G |
3: 93,354,982 (GRCm39) |
E1474G |
unknown |
Het |
| Tenm4 |
A |
T |
7: 96,543,887 (GRCm39) |
R1968W |
probably damaging |
Het |
| Tshz2 |
A |
T |
2: 169,726,240 (GRCm39) |
M279L |
probably benign |
Het |
| Tuba3a |
G |
T |
6: 125,258,555 (GRCm39) |
T145K |
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 |
|
|
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'- AGAGCCCAGCTTTATTCACAGC -3'
(R):5'- ATGTAAGGCACTCACTCACC -3'
Sequencing Primer
(F):5'- CAGCTTTATTCACAGCAAAAATGGGG -3'
(R):5'- CTTGGCCTGTCGGGGAG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation