Incidental Mutation 'R5556:Cdk11b'
| ID |
435379 |
| 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 |
043113-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5556 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155709311-155734395 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 155718604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 185
(Q185*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067081]
[ENSMUST00000105598]
[ENSMUST00000105600]
[ENSMUST00000115821]
|
| AlphaFold |
P24788 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067081
AA Change: Q185*
|
| SMART Domains |
Protein: ENSMUSP00000070527
Gene: ENSMUSG00000029062
AA Change: Q185*
| 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 null
Transcript: ENSMUST00000105598
AA Change: Q151*
|
| SMART Domains |
Protein: ENSMUSP00000101223
Gene: ENSMUSG00000029062
AA Change: Q151*
| 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 null
Transcript: ENSMUST00000105600
AA Change: Q185*
|
| SMART Domains |
Protein: ENSMUSP00000101225
Gene: ENSMUSG00000029062
AA Change: Q185*
| 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: ENSMUST00000135550
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142513
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
A |
11: 72,066,026 (GRCm39) |
|
probably null |
Het |
| Abca13 |
A |
T |
11: 9,208,546 (GRCm39) |
I240F |
possibly damaging |
Het |
| Accs |
A |
G |
2: 93,666,428 (GRCm39) |
Y420H |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,773,520 (GRCm39) |
Y20H |
probably damaging |
Het |
| Adck2 |
T |
C |
6: 39,560,869 (GRCm39) |
V419A |
probably benign |
Het |
| Bahd1 |
T |
A |
2: 118,746,751 (GRCm39) |
N123K |
probably damaging |
Het |
| Cast |
A |
G |
13: 74,844,008 (GRCm39) |
|
probably null |
Het |
| Cd164l2 |
T |
A |
4: 132,951,016 (GRCm39) |
V157E |
probably damaging |
Het |
| Ces2g |
T |
C |
8: 105,694,074 (GRCm39) |
F470S |
probably benign |
Het |
| Cherp |
C |
G |
8: 73,221,824 (GRCm39) |
Q313H |
probably damaging |
Het |
| Chrna4 |
A |
G |
2: 180,675,773 (GRCm39) |
V110A |
possibly damaging |
Het |
| Cndp2 |
A |
G |
18: 84,690,249 (GRCm39) |
V231A |
probably benign |
Het |
| Cst7 |
A |
T |
2: 150,412,488 (GRCm39) |
H17L |
probably benign |
Het |
| Decr1 |
C |
T |
4: 15,919,244 (GRCm39) |
D300N |
probably damaging |
Het |
| Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
| Dgkb |
T |
G |
12: 38,177,363 (GRCm39) |
V230G |
probably damaging |
Het |
| Dis3l2 |
T |
C |
1: 86,901,126 (GRCm39) |
V439A |
possibly damaging |
Het |
| Disp3 |
C |
T |
4: 148,342,614 (GRCm39) |
G612D |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,832,972 (GRCm39) |
T1962A |
probably damaging |
Het |
| Entrep2 |
A |
G |
7: 64,505,957 (GRCm39) |
F96S |
probably damaging |
Het |
| Fibp |
T |
A |
19: 5,514,227 (GRCm39) |
V304E |
possibly damaging |
Het |
| Flt3 |
T |
A |
5: 147,269,807 (GRCm39) |
|
probably null |
Het |
| Kifc3 |
G |
A |
8: 95,835,087 (GRCm39) |
Q233* |
probably null |
Het |
| Klhl42 |
C |
A |
6: 147,009,610 (GRCm39) |
S483Y |
probably benign |
Het |
| Map3k19 |
G |
A |
1: 127,762,284 (GRCm39) |
R276* |
probably null |
Het |
| Mecom |
A |
G |
3: 30,292,249 (GRCm39) |
S87P |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,218,664 (GRCm39) |
V416A |
probably benign |
Het |
| Mepe |
G |
A |
5: 104,486,078 (GRCm39) |
G406D |
probably damaging |
Het |
| Met |
T |
G |
6: 17,534,175 (GRCm39) |
L673V |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,315,267 (GRCm39) |
Y306* |
probably null |
Het |
| Nrxn2 |
C |
A |
19: 6,540,121 (GRCm39) |
A814E |
probably damaging |
Het |
| Nsmaf |
C |
T |
4: 6,398,621 (GRCm39) |
V828I |
probably benign |
Het |
| Or2j3 |
T |
A |
17: 38,615,964 (GRCm39) |
K129N |
possibly damaging |
Het |
| Or9r7 |
A |
T |
10: 129,962,728 (GRCm39) |
L66H |
probably damaging |
Het |
| Panx1 |
A |
G |
9: 14,918,929 (GRCm39) |
I310T |
possibly damaging |
Het |
| Pcare |
T |
C |
17: 72,059,420 (GRCm39) |
K86E |
possibly damaging |
Het |
| Pcdhb6 |
T |
A |
18: 37,467,442 (GRCm39) |
L121Q |
probably damaging |
Het |
| Plekha7 |
G |
A |
7: 115,763,384 (GRCm39) |
T406I |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,758,986 (GRCm39) |
S447P |
probably damaging |
Het |
| Ptprr |
A |
G |
10: 116,087,054 (GRCm39) |
Y267C |
probably damaging |
Het |
| Rbpjl |
A |
G |
2: 164,249,982 (GRCm39) |
T134A |
probably benign |
Het |
| Relch |
C |
A |
1: 105,620,892 (GRCm39) |
Q456K |
probably benign |
Het |
| Rpe |
C |
A |
1: 66,745,625 (GRCm39) |
T55N |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,155,141 (GRCm39) |
D606G |
probably benign |
Het |
| Setd5 |
T |
A |
6: 113,124,463 (GRCm39) |
N1105K |
probably benign |
Het |
| Sh3d21 |
T |
C |
4: 126,056,029 (GRCm39) |
N126D |
possibly damaging |
Het |
| Shank1 |
A |
G |
7: 43,993,739 (GRCm39) |
|
probably benign |
Het |
| Srgap3 |
T |
A |
6: 112,716,039 (GRCm39) |
D627V |
probably damaging |
Het |
| Tacc2 |
T |
A |
7: 130,276,336 (GRCm39) |
S1796T |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,344,870 (GRCm39) |
V217I |
probably damaging |
Het |
| Trgc4 |
A |
T |
13: 19,536,477 (GRCm39) |
R178S |
unknown |
Het |
| Tspan10 |
A |
T |
11: 120,335,541 (GRCm39) |
Y217F |
possibly damaging |
Het |
| Usp3 |
G |
A |
9: 66,451,303 (GRCm39) |
T153M |
possibly damaging |
Het |
| Xdh |
G |
T |
17: 74,204,759 (GRCm39) |
T1067K |
probably benign |
Het |
| Zfp334 |
T |
C |
2: 165,222,504 (GRCm39) |
D513G |
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 |
|
|
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'- GTCTAAGAGACTTCTGTCAGCC -3'
(R):5'- CATGTGTGTAAAATCTGTGCCAC -3'
Sequencing Primer
(F):5'- CCTTTAATTGCAGCACTCAGGAGG -3'
(R):5'- GTGTGTAAAATCTGTGCCACACCAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation