Incidental Mutation 'R8213:Cdk11b'
ID |
636248 |
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 |
067655-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8213 (G1)
|
Quality Score |
146.008 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
155709311-155734395 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 155724338 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 319
(E319K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070527
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067081]
[ENSMUST00000105598]
[ENSMUST00000105600]
[ENSMUST00000115821]
|
AlphaFold |
P24788 |
Predicted Effect |
unknown
Transcript: ENSMUST00000067081
AA Change: E319K
|
SMART Domains |
Protein: ENSMUSP00000070527 Gene: ENSMUSG00000029062 AA Change: E319K
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: E285K
|
SMART Domains |
Protein: ENSMUSP00000101223 Gene: ENSMUSG00000029062 AA Change: E285K
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: E319K
|
SMART Domains |
Protein: ENSMUSP00000101225 Gene: ENSMUSG00000029062 AA Change: E319K
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
98% (65/66) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
T |
C |
15: 60,791,605 (GRCm39) |
Y277C |
probably damaging |
Het |
Acss1 |
T |
A |
2: 150,461,630 (GRCm39) |
D651V |
possibly damaging |
Het |
Aktip |
G |
T |
8: 91,851,494 (GRCm39) |
P243H |
possibly damaging |
Het |
Arl11 |
T |
G |
14: 61,548,714 (GRCm39) |
S175A |
probably benign |
Het |
Aup1 |
A |
G |
6: 83,031,588 (GRCm39) |
|
probably benign |
Het |
Avil |
A |
T |
10: 126,844,190 (GRCm39) |
I250F |
probably damaging |
Het |
Btnl6 |
A |
T |
17: 34,727,857 (GRCm39) |
|
probably null |
Het |
Ccdc7b |
C |
A |
8: 129,904,772 (GRCm39) |
Q137K |
probably benign |
Het |
Chka |
A |
C |
19: 3,935,882 (GRCm39) |
E196A |
probably damaging |
Het |
Depdc5 |
C |
T |
5: 33,094,981 (GRCm39) |
R753C |
probably damaging |
Het |
Dhx57 |
T |
A |
17: 80,582,585 (GRCm39) |
D340V |
possibly damaging |
Het |
Dicer1 |
A |
T |
12: 104,668,952 (GRCm39) |
D1243E |
probably benign |
Het |
Dnajb9 |
A |
T |
12: 44,253,916 (GRCm39) |
L164M |
probably benign |
Het |
Dock6 |
A |
G |
9: 21,742,740 (GRCm39) |
V785A |
possibly damaging |
Het |
Efcab5 |
T |
C |
11: 77,006,897 (GRCm39) |
Y909C |
probably damaging |
Het |
Erp44 |
A |
T |
4: 48,208,783 (GRCm39) |
S226T |
probably benign |
Het |
Fgd6 |
A |
T |
10: 93,879,914 (GRCm39) |
D256V |
probably benign |
Het |
Fhl5 |
A |
T |
4: 25,207,113 (GRCm39) |
Y218* |
probably null |
Het |
Filip1 |
C |
A |
9: 79,725,374 (GRCm39) |
A1082S |
probably benign |
Het |
Heatr5a |
G |
A |
12: 51,938,226 (GRCm39) |
T1484M |
probably damaging |
Het |
Herc1 |
G |
T |
9: 66,358,170 (GRCm39) |
R2417L |
probably damaging |
Het |
Hnrnpr |
A |
G |
4: 136,044,486 (GRCm39) |
|
probably benign |
Het |
Igsf5 |
A |
T |
16: 96,174,188 (GRCm39) |
I73F |
probably damaging |
Het |
Il17ra |
T |
C |
6: 120,449,995 (GRCm39) |
V91A |
probably benign |
Het |
Inpp5f |
A |
G |
7: 128,281,529 (GRCm39) |
D510G |
probably damaging |
Het |
Kbtbd3 |
A |
G |
9: 4,331,269 (GRCm39) |
K548E |
probably damaging |
Het |
Kdm5d |
T |
A |
Y: 941,515 (GRCm39) |
C1239S |
probably damaging |
Het |
Mamdc4 |
G |
A |
2: 25,456,368 (GRCm39) |
T709M |
probably benign |
Het |
Mybbp1a |
T |
A |
11: 72,335,547 (GRCm39) |
Y353N |
probably damaging |
Het |
Nepn |
A |
T |
10: 52,267,855 (GRCm39) |
E40D |
probably benign |
Het |
Nhsl3 |
A |
T |
4: 129,115,252 (GRCm39) |
V1070D |
possibly damaging |
Het |
Npat |
G |
T |
9: 53,481,870 (GRCm39) |
E1193* |
probably null |
Het |
Nrde2 |
G |
A |
12: 100,097,262 (GRCm39) |
S846L |
probably benign |
Het |
Nup205 |
T |
C |
6: 35,202,138 (GRCm39) |
V1290A |
probably benign |
Het |
Or10a49 |
C |
A |
7: 108,467,726 (GRCm39) |
V212L |
probably benign |
Het |
Or4d10b |
A |
G |
19: 12,036,456 (GRCm39) |
V220A |
probably benign |
Het |
Or5g9 |
T |
A |
2: 85,551,845 (GRCm39) |
L32Q |
probably null |
Het |
Pde6a |
A |
T |
18: 61,353,768 (GRCm39) |
K31M |
possibly damaging |
Het |
Pms2 |
C |
T |
5: 143,851,589 (GRCm39) |
R169C |
probably damaging |
Het |
Polr2g |
A |
T |
19: 8,775,621 (GRCm39) |
L30Q |
probably damaging |
Het |
Pramel22 |
T |
A |
4: 143,380,755 (GRCm39) |
M423L |
probably benign |
Het |
Pramel30 |
A |
T |
4: 144,057,030 (GRCm39) |
D71V |
probably benign |
Het |
Prdm15 |
T |
A |
16: 97,608,260 (GRCm39) |
H679L |
probably damaging |
Het |
Prl4a1 |
T |
G |
13: 28,207,369 (GRCm39) |
Y214* |
probably null |
Het |
Prlr |
C |
T |
15: 10,329,328 (GRCm39) |
T601M |
possibly damaging |
Het |
Psen2 |
A |
C |
1: 180,073,256 (GRCm39) |
S22A |
probably benign |
Het |
Ralgapa1 |
C |
A |
12: 55,769,699 (GRCm39) |
R764L |
probably damaging |
Het |
Scgb2b11 |
T |
C |
7: 31,908,833 (GRCm39) |
E89G |
probably damaging |
Het |
Serpina10 |
T |
C |
12: 103,594,536 (GRCm39) |
I228V |
probably benign |
Het |
Serpinb1a |
T |
A |
13: 33,026,982 (GRCm39) |
H320L |
probably damaging |
Het |
Sesn2 |
C |
A |
4: 132,225,364 (GRCm39) |
Q267H |
possibly damaging |
Het |
Sgsm1 |
A |
T |
5: 113,398,877 (GRCm39) |
W1019R |
probably damaging |
Het |
Sqle |
A |
G |
15: 59,193,151 (GRCm39) |
|
probably null |
Het |
Syt14 |
T |
C |
1: 192,669,137 (GRCm39) |
M39V |
probably benign |
Het |
Tgm7 |
A |
G |
2: 120,931,545 (GRCm39) |
V206A |
probably damaging |
Het |
Thbs4 |
T |
C |
13: 92,897,094 (GRCm39) |
|
probably null |
Het |
Trpv1 |
T |
C |
11: 73,145,077 (GRCm39) |
F721S |
probably damaging |
Het |
Ttll10 |
A |
T |
4: 156,120,691 (GRCm39) |
M433K |
probably benign |
Het |
Vmn1r216 |
T |
C |
13: 23,283,695 (GRCm39) |
I126T |
probably benign |
Het |
Vmn2r108 |
G |
A |
17: 20,690,350 (GRCm39) |
S494F |
probably benign |
Het |
Vwa3b |
C |
T |
1: 37,168,020 (GRCm39) |
A603V |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,307,210 (GRCm39) |
N19K |
probably damaging |
Het |
Zfp397 |
T |
A |
18: 24,093,779 (GRCm39) |
N421K |
probably damaging |
Het |
Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
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 |
|
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'- TGAGTCTTCATCAGGTATCGC -3'
(R):5'- TCTGTAGTACCTAAACTCTACACAG -3'
Sequencing Primer
(F):5'- TCTTCATCAGGTATCGCGAGGC -3'
(R):5'- TTGACACAGCTGGAGTTACC -3'
|
Posted On |
2020-07-13 |