Incidental Mutation 'R9793:Cdk11b'
| ID |
734745 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9793 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155709311-155734395 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 155732378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 510
(H510Q)
|
| 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: H510Q
|
| SMART Domains |
Protein: ENSMUSP00000070527
Gene: ENSMUSG00000029062
AA Change: H510Q
| 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: H476Q
|
| SMART Domains |
Protein: ENSMUSP00000101223
Gene: ENSMUSG00000029062
AA Change: H476Q
| 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: H510Q
|
| SMART Domains |
Protein: ENSMUSP00000101225
Gene: ENSMUSG00000029062
AA Change: H510Q
| 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: 99.5%
- 20x: 98.9%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
A |
T |
6: 86,078,135 (GRCm39) |
|
probably null |
Het |
| Afap1l1 |
T |
C |
18: 61,874,822 (GRCm39) |
D453G |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,261,129 (GRCm39) |
V656A |
probably benign |
Het |
| Aldh3a1 |
T |
C |
11: 61,108,927 (GRCm39) |
Y443H |
probably damaging |
Het |
| Alpk3 |
T |
C |
7: 80,750,881 (GRCm39) |
|
probably null |
Het |
| Ano1 |
A |
T |
7: 144,175,434 (GRCm39) |
W495R |
probably damaging |
Het |
| Apc |
T |
A |
18: 34,447,628 (GRCm39) |
L1508Q |
probably damaging |
Het |
| Cald1 |
A |
T |
6: 34,723,071 (GRCm39) |
M52L |
|
Het |
| Ccdc9b |
T |
C |
2: 118,587,784 (GRCm39) |
S517G |
unknown |
Het |
| Cdk12 |
T |
A |
11: 98,102,051 (GRCm39) |
D636E |
unknown |
Het |
| Cfap53 |
A |
G |
18: 74,438,741 (GRCm39) |
D306G |
probably benign |
Het |
| Cntln |
C |
T |
4: 84,985,798 (GRCm39) |
L951F |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,608,357 (GRCm39) |
V1259A |
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,409,192 (GRCm39) |
T477S |
probably benign |
Het |
| Cyp4a30b |
A |
G |
4: 115,316,167 (GRCm39) |
T298A |
probably benign |
Het |
| Dop1b |
T |
A |
16: 93,598,503 (GRCm39) |
D2006E |
probably benign |
Het |
| Ermard |
T |
C |
17: 15,281,441 (GRCm39) |
L617P |
probably damaging |
Het |
| Glipr1l2 |
A |
G |
10: 111,942,905 (GRCm39) |
I253M |
probably benign |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
A |
G |
4: 125,526,315 (GRCm39) |
T183A |
probably damaging |
Het |
| Hao1 |
T |
A |
2: 134,372,552 (GRCm39) |
Y152F |
possibly damaging |
Het |
| Hdac7 |
T |
C |
15: 97,698,671 (GRCm39) |
T629A |
possibly damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,608,689 (GRCm39) |
P1498S |
possibly damaging |
Het |
| Iqcf3 |
T |
A |
9: 106,434,714 (GRCm39) |
K41N |
probably benign |
Het |
| Kif26a |
C |
T |
12: 112,142,887 (GRCm39) |
A1047V |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,893,313 (GRCm39) |
M338T |
probably benign |
Het |
| Map1a |
T |
C |
2: 121,121,304 (GRCm39) |
|
probably null |
Het |
| Ncoa2 |
G |
T |
1: 13,260,355 (GRCm39) |
Q107K |
possibly damaging |
Het |
| Nsd2 |
A |
G |
5: 34,003,489 (GRCm39) |
D213G |
possibly damaging |
Het |
| Nuggc |
T |
C |
14: 65,847,345 (GRCm39) |
S131P |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,964,232 (GRCm39) |
E1272G |
probably damaging |
Het |
| Or2y1 |
A |
T |
11: 49,385,882 (GRCm39) |
N174I |
probably damaging |
Het |
| Or4a78 |
T |
C |
2: 89,497,811 (GRCm39) |
I140V |
probably benign |
Het |
| Or4f14c |
T |
C |
2: 111,941,330 (GRCm39) |
H89R |
probably benign |
Het |
| Or52m1 |
G |
A |
7: 102,289,788 (GRCm39) |
V112I |
probably benign |
Het |
| Or5b113 |
A |
T |
19: 13,342,514 (GRCm39) |
H174L |
probably damaging |
Het |
| Or8h9 |
T |
A |
2: 86,789,119 (GRCm39) |
I228F |
probably damaging |
Het |
| Otud7a |
C |
T |
7: 63,378,845 (GRCm39) |
R232W |
probably damaging |
Het |
| Pacsin3 |
C |
A |
2: 91,094,160 (GRCm39) |
A363D |
probably benign |
Het |
| Pcdh17 |
C |
T |
14: 84,770,350 (GRCm39) |
R943* |
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,800,172 (GRCm39) |
T2978A |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,406,983 (GRCm39) |
S2407P |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,671,822 (GRCm39) |
Y489* |
probably null |
Het |
| Rasgrp1 |
T |
C |
2: 117,118,429 (GRCm39) |
D520G |
probably benign |
Het |
| Rbm20 |
C |
A |
19: 53,852,551 (GRCm39) |
T1177K |
probably benign |
Het |
| Rex2 |
A |
C |
4: 147,142,039 (GRCm39) |
N176H |
probably damaging |
Het |
| Rsl1d1 |
T |
C |
16: 11,017,300 (GRCm39) |
N194S |
possibly damaging |
Het |
| Sel1l3 |
C |
A |
5: 53,329,924 (GRCm39) |
R477L |
probably benign |
Het |
| Sidt2 |
A |
G |
9: 45,850,563 (GRCm39) |
Y851H |
probably damaging |
Het |
| Sirpb1b |
G |
A |
3: 15,640,074 (GRCm39) |
|
probably benign |
Het |
| Slc6a7 |
C |
A |
18: 61,138,866 (GRCm39) |
R214L |
probably benign |
Het |
| Srrt |
G |
C |
5: 137,294,835 (GRCm39) |
I739M |
probably benign |
Het |
| Tbc1d22a |
T |
C |
15: 86,119,839 (GRCm39) |
L81P |
probably damaging |
Het |
| Trim42 |
A |
G |
9: 97,245,429 (GRCm39) |
I457T |
probably damaging |
Het |
| Ttc23l |
T |
A |
15: 10,537,731 (GRCm39) |
I180F |
probably benign |
Het |
| Usp9y |
T |
C |
Y: 1,364,679 (GRCm39) |
M1045V |
probably benign |
Het |
| Vim |
A |
G |
2: 13,579,598 (GRCm39) |
D119G |
probably benign |
Het |
| Vmn2r118 |
T |
C |
17: 55,899,496 (GRCm39) |
T803A |
probably damaging |
Het |
| Vwa3a |
C |
A |
7: 120,383,307 (GRCm39) |
A636D |
probably damaging |
Het |
| Wdr26 |
A |
G |
1: 181,036,812 (GRCm39) |
F143S |
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 |
|
|
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 |
|
|
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 |
|
|
Z1088:Cdk11b
|
UTSW |
4 |
155,726,021 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGTAAGAGGGCTCCATGATATC -3'
(R):5'- TCACTGGGGCACTATTCCTG -3'
Sequencing Primer
(F):5'- GATATCCTAGGGTCAGCTTCCCAAG -3'
(R):5'- GGGCACTATTCCTGCTTTTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation