Incidental Mutation 'R2922:Cdk11b'
ID |
255567 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdk11b
|
Ensembl Gene |
ENSMUSG00000029062 |
Gene Name |
cyclin dependent kinase 11B |
Synonyms |
Cdc2l2, PITSLRE proteins, Cdc2l1, CDK11-p110, CDK11-p46, CDK11-p58 |
MMRRC Submission |
040507-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2922 (G1)
|
Quality Score |
217 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
155709311-155734395 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
CAGAAGAAG to CAGAAG
at 155725201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067081]
[ENSMUST00000105598]
[ENSMUST00000105600]
[ENSMUST00000115821]
|
AlphaFold |
P24788 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067081
|
SMART Domains |
Protein: ENSMUSP00000070527 Gene: ENSMUSG00000029062
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
48 |
N/A |
INTRINSIC |
low complexity region
|
93 |
112 |
N/A |
INTRINSIC |
coiled coil region
|
123 |
214 |
N/A |
INTRINSIC |
low complexity region
|
252 |
259 |
N/A |
INTRINSIC |
low complexity region
|
261 |
272 |
N/A |
INTRINSIC |
coiled coil region
|
290 |
337 |
N/A |
INTRINSIC |
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
S_TKc
|
427 |
712 |
5.05e-93 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105598
|
SMART Domains |
Protein: ENSMUSP00000101223 Gene: ENSMUSG00000029062
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
low complexity region
|
59 |
78 |
N/A |
INTRINSIC |
coiled coil region
|
89 |
180 |
N/A |
INTRINSIC |
low complexity region
|
218 |
225 |
N/A |
INTRINSIC |
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
coiled coil region
|
256 |
303 |
N/A |
INTRINSIC |
low complexity region
|
335 |
349 |
N/A |
INTRINSIC |
S_TKc
|
393 |
678 |
5.05e-93 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105600
|
SMART Domains |
Protein: ENSMUSP00000101225 Gene: ENSMUSG00000029062
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
48 |
N/A |
INTRINSIC |
low complexity region
|
93 |
112 |
N/A |
INTRINSIC |
coiled coil region
|
123 |
214 |
N/A |
INTRINSIC |
low complexity region
|
252 |
259 |
N/A |
INTRINSIC |
low complexity region
|
261 |
272 |
N/A |
INTRINSIC |
coiled coil region
|
290 |
337 |
N/A |
INTRINSIC |
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
S_TKc
|
427 |
712 |
5.05e-93 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115821
|
SMART Domains |
Protein: ENSMUSP00000111488 Gene: ENSMUSG00000073682
Domain | Start | End | E-Value | Type |
SCOP:d1l9ha_
|
17 |
52 |
2e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142513
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (43/43) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] PHENOTYPE: Homozygous null embryos display embryonic lethality from cell cycle arrest. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
T |
C |
5: 90,009,393 (GRCm39) |
D90G |
possibly damaging |
Het |
Atp6v0a2 |
C |
T |
5: 124,794,981 (GRCm39) |
T656M |
possibly damaging |
Het |
Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
Bsn |
C |
T |
9: 107,985,385 (GRCm39) |
V2890M |
unknown |
Het |
Bsn |
T |
C |
9: 107,992,668 (GRCm39) |
E1028G |
probably damaging |
Het |
Ccdc116 |
T |
C |
16: 16,960,307 (GRCm39) |
H170R |
probably benign |
Het |
Cemip2 |
A |
G |
19: 21,795,303 (GRCm39) |
D732G |
possibly damaging |
Het |
Clpb |
A |
G |
7: 101,372,035 (GRCm39) |
D257G |
probably benign |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Dlgap5 |
A |
G |
14: 47,627,898 (GRCm39) |
|
probably null |
Het |
Dmwd |
T |
C |
7: 18,810,270 (GRCm39) |
F26L |
probably damaging |
Het |
Eif5b |
T |
C |
1: 38,057,100 (GRCm39) |
|
probably benign |
Het |
Flii |
A |
G |
11: 60,609,742 (GRCm39) |
Y622H |
probably damaging |
Het |
Gbp7 |
A |
T |
3: 142,240,333 (GRCm39) |
E17V |
probably benign |
Het |
Ghrh |
T |
C |
2: 157,173,797 (GRCm39) |
|
probably null |
Het |
Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
Golga4 |
T |
A |
9: 118,388,411 (GRCm39) |
S1844R |
possibly damaging |
Het |
Hgd |
T |
C |
16: 37,439,330 (GRCm39) |
F213L |
probably damaging |
Het |
Hoxb1 |
T |
C |
11: 96,257,119 (GRCm39) |
L156P |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,675,912 (GRCm39) |
|
probably benign |
Het |
Kcnn3 |
T |
C |
3: 89,428,329 (GRCm39) |
V185A |
probably damaging |
Het |
Lrriq1 |
T |
C |
10: 103,050,536 (GRCm39) |
T739A |
probably benign |
Het |
Mib1 |
C |
T |
18: 10,760,831 (GRCm39) |
Q374* |
probably null |
Het |
Myh9 |
A |
G |
15: 77,697,384 (GRCm39) |
L10P |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,132,855 (GRCm39) |
F44S |
probably damaging |
Het |
Nr3c1 |
C |
A |
18: 39,620,156 (GRCm39) |
A44S |
possibly damaging |
Het |
Or10n1 |
G |
A |
9: 39,525,060 (GRCm39) |
V66I |
probably benign |
Het |
Or51a43 |
A |
G |
7: 103,717,794 (GRCm39) |
V148A |
probably benign |
Het |
Ovch2 |
A |
G |
7: 107,389,596 (GRCm39) |
L317P |
possibly damaging |
Het |
Pcolce2 |
T |
A |
9: 95,576,767 (GRCm39) |
L346Q |
probably damaging |
Het |
Rdm1 |
T |
A |
11: 101,521,716 (GRCm39) |
L157H |
possibly damaging |
Het |
Rptn |
A |
G |
3: 93,306,015 (GRCm39) |
Y1116C |
possibly damaging |
Het |
Scn7a |
A |
G |
2: 66,530,551 (GRCm39) |
|
probably benign |
Het |
Slc24a2 |
A |
G |
4: 86,909,591 (GRCm39) |
V660A |
possibly damaging |
Het |
Tet3 |
A |
G |
6: 83,345,494 (GRCm39) |
S1648P |
probably damaging |
Het |
Tmem198b |
G |
A |
10: 128,638,062 (GRCm39) |
T167I |
probably damaging |
Het |
Tmx1 |
T |
A |
12: 70,512,895 (GRCm39) |
C268S |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,206,811 (GRCm39) |
N4886S |
possibly damaging |
Het |
Usp47 |
A |
G |
7: 111,692,405 (GRCm39) |
S956G |
probably damaging |
Het |
Vmn2r60 |
T |
A |
7: 41,790,459 (GRCm39) |
V482E |
probably damaging |
Het |
Zfhx4 |
C |
T |
3: 5,468,724 (GRCm39) |
P2986S |
probably damaging |
Het |
Zfp507 |
T |
C |
7: 35,494,224 (GRCm39) |
E273G |
probably damaging |
Het |
|
Other mutations in Cdk11b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01764:Cdk11b
|
APN |
4 |
155,713,260 (GRCm39) |
missense |
possibly damaging |
0.54 |
R0071:Cdk11b
|
UTSW |
4 |
155,733,880 (GRCm39) |
unclassified |
probably benign |
|
R0071:Cdk11b
|
UTSW |
4 |
155,733,880 (GRCm39) |
unclassified |
probably benign |
|
R0145:Cdk11b
|
UTSW |
4 |
155,726,076 (GRCm39) |
intron |
probably benign |
|
R0372:Cdk11b
|
UTSW |
4 |
155,725,957 (GRCm39) |
intron |
probably benign |
|
R0426:Cdk11b
|
UTSW |
4 |
155,726,969 (GRCm39) |
intron |
probably benign |
|
R0471:Cdk11b
|
UTSW |
4 |
155,731,999 (GRCm39) |
unclassified |
probably benign |
|
R0627:Cdk11b
|
UTSW |
4 |
155,725,229 (GRCm39) |
intron |
probably benign |
|
R1475:Cdk11b
|
UTSW |
4 |
155,718,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R1611:Cdk11b
|
UTSW |
4 |
155,726,032 (GRCm39) |
intron |
probably benign |
|
R1719:Cdk11b
|
UTSW |
4 |
155,732,854 (GRCm39) |
unclassified |
probably benign |
|
R1750:Cdk11b
|
UTSW |
4 |
155,713,137 (GRCm39) |
splice site |
probably null |
|
R2061:Cdk11b
|
UTSW |
4 |
155,726,061 (GRCm39) |
intron |
probably benign |
|
R2274:Cdk11b
|
UTSW |
4 |
155,732,051 (GRCm39) |
unclassified |
probably benign |
|
R3719:Cdk11b
|
UTSW |
4 |
155,711,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R3917:Cdk11b
|
UTSW |
4 |
155,711,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R4077:Cdk11b
|
UTSW |
4 |
155,724,204 (GRCm39) |
intron |
probably benign |
|
R4078:Cdk11b
|
UTSW |
4 |
155,724,204 (GRCm39) |
intron |
probably benign |
|
R5033:Cdk11b
|
UTSW |
4 |
155,733,282 (GRCm39) |
unclassified |
probably benign |
|
R5212:Cdk11b
|
UTSW |
4 |
155,723,072 (GRCm39) |
splice site |
probably null |
|
R5556:Cdk11b
|
UTSW |
4 |
155,718,604 (GRCm39) |
nonsense |
probably null |
|
R5622:Cdk11b
|
UTSW |
4 |
155,714,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R5927:Cdk11b
|
UTSW |
4 |
155,732,697 (GRCm39) |
unclassified |
probably benign |
|
R5975:Cdk11b
|
UTSW |
4 |
155,732,697 (GRCm39) |
unclassified |
probably benign |
|
R6276:Cdk11b
|
UTSW |
4 |
155,718,647 (GRCm39) |
missense |
probably benign |
0.11 |
R6278:Cdk11b
|
UTSW |
4 |
155,734,060 (GRCm39) |
unclassified |
probably benign |
|
R6905:Cdk11b
|
UTSW |
4 |
155,726,065 (GRCm39) |
intron |
probably benign |
|
R6998:Cdk11b
|
UTSW |
4 |
155,732,800 (GRCm39) |
nonsense |
probably null |
|
R7021:Cdk11b
|
UTSW |
4 |
155,726,024 (GRCm39) |
intron |
probably benign |
|
R7062:Cdk11b
|
UTSW |
4 |
155,711,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R7100:Cdk11b
|
UTSW |
4 |
155,710,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R7338:Cdk11b
|
UTSW |
4 |
155,732,008 (GRCm39) |
missense |
unknown |
|
R7811:Cdk11b
|
UTSW |
4 |
155,724,359 (GRCm39) |
missense |
unknown |
|
R8213:Cdk11b
|
UTSW |
4 |
155,724,338 (GRCm39) |
missense |
unknown |
|
R8257:Cdk11b
|
UTSW |
4 |
155,732,398 (GRCm39) |
missense |
unknown |
|
R8696:Cdk11b
|
UTSW |
4 |
155,732,779 (GRCm39) |
missense |
unknown |
|
R9419:Cdk11b
|
UTSW |
4 |
155,724,302 (GRCm39) |
missense |
unknown |
|
R9546:Cdk11b
|
UTSW |
4 |
155,733,589 (GRCm39) |
missense |
unknown |
|
R9628:Cdk11b
|
UTSW |
4 |
155,734,154 (GRCm39) |
missense |
unknown |
|
R9792:Cdk11b
|
UTSW |
4 |
155,732,378 (GRCm39) |
missense |
unknown |
|
R9793:Cdk11b
|
UTSW |
4 |
155,732,378 (GRCm39) |
missense |
unknown |
|
Z1088:Cdk11b
|
UTSW |
4 |
155,726,021 (GRCm39) |
intron |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AACTTGCCTTATTCTGTGAGACTC -3'
(R):5'- GGAACAGCTTCAATTTATGGGG -3'
Sequencing Primer
(F):5'- CAATAGTAAAGTGCTTGCCACCTTC -3'
(R):5'- GCTTCAATTTATGGGGTTATTACACG -3'
|
Posted On |
2014-12-29 |