Incidental Mutation 'R5927:Cdk11b'
| ID |
459931 |
| 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 |
044122-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5927 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155709311-155734395 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 155732697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030937]
[ENSMUST00000067081]
[ENSMUST00000105598]
[ENSMUST00000105600]
[ENSMUST00000115821]
|
| AlphaFold |
P24788 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030937
|
| SMART Domains |
Protein: ENSMUSP00000030937
Gene: ENSMUSG00000029061
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
41 |
N/A |
INTRINSIC |
|
ZnMc
|
85 |
256 |
8.39e-48 |
SMART |
|
ShKT
|
255 |
291 |
4.06e-10 |
SMART |
|
IG
|
307 |
390 |
4.53e-2 |
SMART |
|
| 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: ENSMUST00000130944
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155100
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (73/73) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
T |
A |
3: 153,644,745 (GRCm39) |
I60F |
probably damaging |
Het |
| Ankrd26 |
A |
G |
6: 118,484,597 (GRCm39) |
|
probably null |
Het |
| Arhgdib |
A |
T |
6: 136,901,136 (GRCm39) |
W198R |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 80,018,111 (GRCm39) |
I1354N |
probably damaging |
Het |
| Ccdc146 |
T |
A |
5: 21,513,619 (GRCm39) |
K500* |
probably null |
Het |
| Cmip |
A |
T |
8: 117,984,048 (GRCm39) |
T70S |
possibly damaging |
Het |
| Col22a1 |
G |
T |
15: 71,878,815 (GRCm39) |
A114E |
probably damaging |
Het |
| Cpeb1 |
T |
C |
7: 81,011,428 (GRCm39) |
D171G |
possibly damaging |
Het |
| Crebzf |
C |
T |
7: 90,093,531 (GRCm39) |
|
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| D630036H23Rik |
C |
A |
12: 36,431,671 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,335,864 (GRCm39) |
T2277S |
probably benign |
Het |
| Dysf |
T |
A |
6: 84,184,194 (GRCm39) |
F2083Y |
probably damaging |
Het |
| Elavl4 |
T |
A |
4: 110,147,440 (GRCm39) |
|
probably benign |
Het |
| Elp3 |
A |
G |
14: 65,819,626 (GRCm39) |
Y111H |
probably damaging |
Het |
| Eps8l2 |
A |
T |
7: 140,936,259 (GRCm39) |
Q243L |
probably benign |
Het |
| Eri2 |
C |
A |
7: 119,385,291 (GRCm39) |
L403F |
probably damaging |
Het |
| Fgfr4 |
T |
A |
13: 55,314,700 (GRCm39) |
N614K |
probably damaging |
Het |
| Gm5108 |
T |
G |
5: 68,134,214 (GRCm39) |
I74S |
unknown |
Het |
| Gpn1 |
T |
C |
5: 31,658,235 (GRCm39) |
F130L |
probably damaging |
Het |
| Gpr176 |
T |
A |
2: 118,203,521 (GRCm39) |
I50F |
probably benign |
Het |
| Gramd1a |
A |
G |
7: 30,839,246 (GRCm39) |
S221P |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,954,305 (GRCm39) |
T874A |
possibly damaging |
Het |
| Igkv12-40 |
A |
G |
6: 69,856,383 (GRCm39) |
|
noncoding transcript |
Het |
| Itgb2 |
C |
A |
10: 77,381,868 (GRCm39) |
P57T |
probably damaging |
Het |
| Kcmf1 |
T |
A |
6: 72,819,988 (GRCm39) |
D286V |
possibly damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,799,388 (GRCm39) |
|
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,846,326 (GRCm39) |
S76G |
probably benign |
Het |
| Kpna3 |
C |
T |
14: 61,622,096 (GRCm39) |
V223I |
probably damaging |
Het |
| Krt80 |
A |
G |
15: 101,262,089 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,948,808 (GRCm39) |
Y857C |
probably damaging |
Het |
| Lcorl |
G |
T |
5: 45,882,766 (GRCm39) |
|
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,921,348 (GRCm39) |
V528A |
probably benign |
Het |
| Mmp8 |
T |
A |
9: 7,563,203 (GRCm39) |
N255K |
possibly damaging |
Het |
| Npat |
A |
T |
9: 53,473,521 (GRCm39) |
K438* |
probably null |
Het |
| Or4a73 |
T |
A |
2: 89,421,444 (GRCm39) |
N5I |
possibly damaging |
Het |
| P4htm |
T |
C |
9: 108,474,582 (GRCm39) |
Y61C |
probably damaging |
Het |
| Pgap6 |
T |
C |
17: 26,340,972 (GRCm39) |
Y692H |
probably benign |
Het |
| Polr3h |
G |
T |
15: 81,801,480 (GRCm39) |
|
probably null |
Het |
| Prlr |
C |
T |
15: 10,322,532 (GRCm39) |
T176I |
probably benign |
Het |
| Psme4 |
T |
G |
11: 30,754,294 (GRCm39) |
F184V |
possibly damaging |
Het |
| Ptgfrn |
A |
T |
3: 100,967,968 (GRCm39) |
F542I |
possibly damaging |
Het |
| Rock1 |
T |
C |
18: 10,116,792 (GRCm39) |
E448G |
probably damaging |
Het |
| Rpf1 |
A |
T |
3: 146,225,218 (GRCm39) |
|
probably null |
Het |
| Sectm1b |
T |
C |
11: 120,946,500 (GRCm39) |
I132V |
probably benign |
Het |
| Sestd1 |
T |
A |
2: 77,017,503 (GRCm39) |
H688L |
probably benign |
Het |
| Sidt2 |
T |
C |
9: 45,855,752 (GRCm39) |
Y530C |
probably damaging |
Het |
| Sin3a |
A |
T |
9: 57,018,395 (GRCm39) |
K938M |
probably damaging |
Het |
| Sin3b |
C |
A |
8: 73,476,506 (GRCm39) |
R647S |
probably benign |
Het |
| Slc16a14 |
T |
C |
1: 84,889,988 (GRCm39) |
H439R |
possibly damaging |
Het |
| Stc1 |
T |
C |
14: 69,269,822 (GRCm39) |
V134A |
probably benign |
Het |
| Stk11ip |
G |
A |
1: 75,501,335 (GRCm39) |
V24I |
possibly damaging |
Het |
| Tbx6 |
G |
A |
7: 126,384,025 (GRCm39) |
A359T |
possibly damaging |
Het |
| Thra |
G |
A |
11: 98,654,514 (GRCm39) |
V295I |
possibly damaging |
Het |
| Tnr |
T |
C |
1: 159,740,336 (GRCm39) |
M1170T |
probably damaging |
Het |
| Tpcn2 |
T |
A |
7: 144,832,521 (GRCm39) |
I112F |
probably damaging |
Het |
| Trdv2-2 |
T |
C |
14: 54,198,998 (GRCm39) |
L96P |
probably damaging |
Het |
| Trim24 |
T |
A |
6: 37,935,504 (GRCm39) |
W832R |
probably damaging |
Het |
| Usp4 |
T |
G |
9: 108,268,959 (GRCm39) |
S891A |
probably benign |
Het |
| Vmn1r88 |
A |
T |
7: 12,912,440 (GRCm39) |
R265S |
probably benign |
Het |
| Vmn2r118 |
A |
G |
17: 55,931,494 (GRCm39) |
L60S |
probably benign |
Het |
| Wdr74 |
T |
C |
19: 8,717,197 (GRCm39) |
C220R |
possibly damaging |
Het |
| Xpo1 |
A |
T |
11: 23,218,653 (GRCm39) |
|
probably benign |
Het |
| Xpo1 |
A |
T |
11: 23,218,656 (GRCm39) |
|
probably benign |
Het |
| Zfp850 |
C |
A |
7: 27,689,620 (GRCm39) |
G196V |
probably benign |
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 |
|
|
R2922:Cdk11b
|
UTSW |
4 |
155,725,201 (GRCm39) |
intron |
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 |
|
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'- TGAGGGATCTCTGAGCAAAAGC -3'
(R):5'- TGGACTGCTTTCCCAGACAC -3'
Sequencing Primer
(F):5'- CAGGAATAGTGCCCCAGTGAC -3'
(R):5'- TGCTTTCCCAGACACGAGGTAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation