Incidental Mutation 'R8257:Cdk11b'
| ID |
640504 |
| 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 |
067683-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8257 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155709311-155734395 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155732398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 517
(E517G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070527
(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 |
unknown
Transcript: ENSMUST00000067081
AA Change: E517G
|
| SMART Domains |
Protein: ENSMUSP00000070527
Gene: ENSMUSG00000029062
AA Change: E517G
| 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 |
unknown
Transcript: ENSMUST00000105598
AA Change: E483G
|
| SMART Domains |
Protein: ENSMUSP00000101223
Gene: ENSMUSG00000029062
AA Change: E483G
| 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 |
unknown
Transcript: ENSMUST00000105600
AA Change: E517G
|
| SMART Domains |
Protein: ENSMUSP00000101225
Gene: ENSMUSG00000029062
AA Change: E517G
| 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 |
|
| Meta Mutation Damage Score |
0.1527 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,950,153 (GRCm39) |
K1350R |
probably benign |
Het |
| 4933407L21Rik |
T |
A |
1: 85,859,060 (GRCm39) |
C70* |
probably null |
Het |
| Akr1c6 |
G |
A |
13: 4,488,525 (GRCm39) |
V97I |
probably benign |
Het |
| Alg9 |
A |
T |
9: 50,690,387 (GRCm39) |
I130F |
possibly damaging |
Het |
| Ankle2 |
G |
T |
5: 110,401,781 (GRCm39) |
|
probably null |
Het |
| Ankrd34a |
A |
T |
3: 96,505,045 (GRCm39) |
H83L |
possibly damaging |
Het |
| Aoc1l2 |
A |
G |
6: 48,909,431 (GRCm39) |
T559A |
probably benign |
Het |
| Ate1 |
T |
C |
7: 130,069,037 (GRCm39) |
Y367C |
probably damaging |
Het |
| Atg9b |
C |
T |
5: 24,591,303 (GRCm39) |
|
probably benign |
Het |
| Atp2c1 |
A |
G |
9: 105,308,756 (GRCm39) |
S626P |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,614,606 (GRCm39) |
N1069S |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,921,962 (GRCm39) |
D753G |
probably benign |
Het |
| Chst5 |
A |
T |
8: 112,617,092 (GRCm39) |
V176E |
probably damaging |
Het |
| Ddx50 |
T |
C |
10: 62,452,299 (GRCm39) |
|
probably benign |
Het |
| Dspp |
A |
G |
5: 104,324,867 (GRCm39) |
D410G |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,602,908 (GRCm39) |
V2183E |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,580,995 (GRCm39) |
V577A |
probably benign |
Het |
| Entpd2 |
T |
A |
2: 25,288,133 (GRCm39) |
L119Q |
probably damaging |
Het |
| Foxa1 |
A |
T |
12: 57,589,932 (GRCm39) |
M96K |
probably benign |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| H2-Aa |
T |
C |
17: 34,502,211 (GRCm39) |
T237A |
probably damaging |
Het |
| Itih4 |
G |
A |
14: 30,609,825 (GRCm39) |
V52I |
possibly damaging |
Het |
| Kntc1 |
T |
C |
5: 123,896,586 (GRCm39) |
|
probably null |
Het |
| Lgi4 |
A |
T |
7: 30,766,766 (GRCm39) |
|
probably null |
Het |
| Map4k2 |
G |
A |
19: 6,396,030 (GRCm39) |
R455H |
probably benign |
Het |
| Masp2 |
A |
G |
4: 148,687,497 (GRCm39) |
T95A |
possibly damaging |
Het |
| Mtmr12 |
T |
C |
15: 12,259,684 (GRCm39) |
I351T |
possibly damaging |
Het |
| Ncdn |
A |
G |
4: 126,643,676 (GRCm39) |
|
probably null |
Het |
| Nckipsd |
A |
G |
9: 108,692,127 (GRCm39) |
E516G |
probably benign |
Het |
| Nlrp12 |
A |
G |
7: 3,297,962 (GRCm39) |
W70R |
probably damaging |
Het |
| Nmral1 |
T |
A |
16: 4,534,267 (GRCm39) |
D58V |
probably damaging |
Het |
| Nr2c1 |
A |
G |
10: 94,028,769 (GRCm39) |
Y522C |
probably damaging |
Het |
| Or14c45 |
A |
G |
7: 86,176,678 (GRCm39) |
T238A |
possibly damaging |
Het |
| Or1e23 |
A |
G |
11: 73,407,203 (GRCm39) |
M274T |
probably benign |
Het |
| Or2d3b |
A |
G |
7: 106,513,926 (GRCm39) |
I174V |
probably benign |
Het |
| Or2w1b |
A |
G |
13: 21,300,543 (GRCm39) |
N227S |
probably benign |
Het |
| Pcdhga6 |
T |
A |
18: 37,841,868 (GRCm39) |
N529K |
probably benign |
Het |
| Pkmyt1 |
C |
T |
17: 23,953,148 (GRCm39) |
R235W |
probably benign |
Het |
| Prss43 |
T |
C |
9: 110,659,880 (GRCm39) |
S315P |
possibly damaging |
Het |
| Psmd1 |
T |
A |
1: 86,006,345 (GRCm39) |
V237E |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,083,476 (GRCm39) |
Y844H |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,764,064 (GRCm39) |
V3089I |
possibly damaging |
Het |
| Slc1a7 |
A |
G |
4: 107,865,394 (GRCm39) |
D294G |
possibly damaging |
Het |
| Slc5a10 |
T |
A |
11: 61,605,873 (GRCm39) |
T148S |
probably damaging |
Het |
| Spata25 |
T |
C |
2: 164,669,690 (GRCm39) |
D107G |
possibly damaging |
Het |
| Stambpl1 |
A |
G |
19: 34,208,901 (GRCm39) |
E132G |
probably damaging |
Het |
| Tgfb1 |
A |
G |
7: 25,396,373 (GRCm39) |
H222R |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Trmt1l |
T |
A |
1: 151,304,629 (GRCm39) |
M1K |
probably null |
Het |
| Vmn2r86 |
A |
T |
10: 130,288,279 (GRCm39) |
H407Q |
possibly damaging |
Het |
| Wdr36 |
T |
A |
18: 32,974,339 (GRCm39) |
|
probably benign |
Het |
| Zfp35 |
T |
A |
18: 24,137,288 (GRCm39) |
I544N |
possibly 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 |
|
|
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 |
|
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 |
|
|
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'- GCATGCATATCTTCGATTCCAGG -3'
(R):5'- AGTTCATTCCAGGAACCCTTC -3'
Sequencing Primer
(F):5'- TCTTCGATTCCAGGTTTTTAAGAAC -3'
(R):5'- TGGCTCTGAGCTCACTAGAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation