Incidental Mutation 'R7100:Cdk11b'
ID |
550758 |
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 |
045192-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7100 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
155709311-155734395 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 155710050 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 17
(L17H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070527
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067081]
[ENSMUST00000105598]
[ENSMUST00000105600]
[ENSMUST00000105608]
[ENSMUST00000115821]
|
AlphaFold |
P24788 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067081
AA Change: L17H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000070527 Gene: ENSMUSG00000029062 AA Change: L17H
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 damaging
Transcript: ENSMUST00000105600
AA Change: L17H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101225 Gene: ENSMUSG00000029062 AA Change: L17H
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: ENSMUST00000105608
|
SMART Domains |
Protein: ENSMUSP00000101233 Gene: ENSMUSG00000042202
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
Pfam:UAA
|
75 |
375 |
6.9e-10 |
PFAM |
Pfam:EamA
|
84 |
215 |
5.8e-8 |
PFAM |
Pfam:TPT
|
224 |
369 |
3.8e-34 |
PFAM |
Pfam:EamA
|
237 |
369 |
3.4e-9 |
PFAM |
|
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 |
0.2306 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (54/55) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl10 |
A |
G |
2: 154,394,315 (GRCm39) |
E89G |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,419,016 (GRCm39) |
V5993E |
probably damaging |
Het |
Amdhd1 |
T |
C |
10: 93,372,936 (GRCm39) |
|
probably null |
Het |
Amph |
T |
C |
13: 19,334,011 (GRCm39) |
*691Q |
probably null |
Het |
Ankrd55 |
A |
G |
13: 112,492,644 (GRCm39) |
K272E |
probably benign |
Het |
Arhgef10l |
C |
T |
4: 140,244,126 (GRCm39) |
V838I |
possibly damaging |
Het |
Arl2 |
C |
A |
19: 6,184,774 (GRCm39) |
V160F |
probably benign |
Het |
Catsperb |
T |
C |
12: 101,412,297 (GRCm39) |
V128A |
possibly damaging |
Het |
Cpsf1 |
A |
T |
15: 76,480,314 (GRCm39) |
N1391K |
possibly damaging |
Het |
Cpxm2 |
C |
T |
7: 131,656,544 (GRCm39) |
A573T |
probably benign |
Het |
Cspg4b |
T |
A |
13: 113,455,501 (GRCm39) |
F516I |
|
Het |
Daxx |
T |
C |
17: 34,130,416 (GRCm39) |
S144P |
probably damaging |
Het |
Dpp3 |
T |
C |
19: 4,968,069 (GRCm39) |
D303G |
probably damaging |
Het |
Fam181a |
T |
A |
12: 103,282,132 (GRCm39) |
N12K |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,111,018 (GRCm39) |
R1015S |
unknown |
Het |
Fstl5 |
A |
G |
3: 76,443,600 (GRCm39) |
H315R |
probably benign |
Het |
Fut4 |
A |
G |
9: 14,662,689 (GRCm39) |
S202P |
probably damaging |
Het |
Gm5114 |
T |
C |
7: 39,057,708 (GRCm39) |
D637G |
possibly damaging |
Het |
Gstcd |
G |
T |
3: 132,790,704 (GRCm39) |
T21K |
probably benign |
Het |
Heca |
C |
T |
10: 17,791,121 (GRCm39) |
V312M |
probably benign |
Het |
Herpud1 |
A |
G |
8: 95,117,475 (GRCm39) |
R144G |
probably damaging |
Het |
Hycc2 |
T |
A |
1: 58,573,653 (GRCm39) |
T384S |
possibly damaging |
Het |
Ino80 |
A |
G |
2: 119,204,994 (GRCm39) |
S1511P |
possibly damaging |
Het |
Irf2bp2 |
T |
C |
8: 127,318,472 (GRCm39) |
T365A |
probably benign |
Het |
Klk1 |
G |
A |
7: 43,878,848 (GRCm39) |
G214E |
probably damaging |
Het |
Lama3 |
A |
T |
18: 12,715,701 (GRCm39) |
N1719I |
possibly damaging |
Het |
Lmna |
A |
G |
3: 88,392,297 (GRCm39) |
I365T |
probably damaging |
Het |
Lrp8 |
C |
A |
4: 107,659,647 (GRCm39) |
A13E |
possibly damaging |
Het |
Ly75 |
A |
G |
2: 60,136,778 (GRCm39) |
L1483P |
probably benign |
Het |
Maco1 |
T |
C |
4: 134,533,971 (GRCm39) |
D550G |
probably damaging |
Het |
Mid1 |
A |
G |
X: 168,768,073 (GRCm39) |
D407G |
probably benign |
Het |
Mpl |
G |
T |
4: 118,314,607 (GRCm39) |
A21E |
|
Het |
Mus81 |
C |
T |
19: 5,534,239 (GRCm39) |
G360S |
probably damaging |
Het |
Nmt2 |
T |
A |
2: 3,313,950 (GRCm39) |
S250T |
probably benign |
Het |
Nr1d1 |
C |
A |
11: 98,662,160 (GRCm39) |
R158L |
probably damaging |
Het |
Pcgf6 |
G |
A |
19: 47,039,153 (GRCm39) |
P36S |
unknown |
Het |
Pcnx2 |
G |
A |
8: 126,485,853 (GRCm39) |
A1915V |
probably benign |
Het |
Peak1 |
A |
G |
9: 56,166,677 (GRCm39) |
V417A |
probably damaging |
Het |
Phf20l1 |
A |
G |
15: 66,476,689 (GRCm39) |
N262S |
probably benign |
Het |
Plaat5 |
T |
A |
19: 7,616,923 (GRCm39) |
F313I |
unknown |
Het |
Ppp2r5d |
A |
G |
17: 46,996,608 (GRCm39) |
V355A |
probably benign |
Het |
Rasa3 |
T |
C |
8: 13,636,897 (GRCm39) |
T395A |
probably benign |
Het |
Rims1 |
T |
A |
1: 22,416,697 (GRCm39) |
I432F |
probably benign |
Het |
Rnf123 |
C |
T |
9: 107,933,838 (GRCm39) |
C1080Y |
probably damaging |
Het |
Serpina3g |
T |
C |
12: 104,204,570 (GRCm39) |
|
probably benign |
Het |
Shank2 |
T |
A |
7: 143,964,901 (GRCm39) |
D836E |
possibly damaging |
Het |
Slc24a5 |
A |
C |
2: 124,922,591 (GRCm39) |
S118R |
probably damaging |
Het |
Smg1 |
G |
T |
7: 117,783,743 (GRCm39) |
H1048N |
unknown |
Het |
Specc1l |
T |
G |
10: 75,081,329 (GRCm39) |
S242A |
probably benign |
Het |
Tagap1 |
A |
T |
17: 7,224,111 (GRCm39) |
L195Q |
possibly damaging |
Het |
Trpc3 |
C |
A |
3: 36,704,216 (GRCm39) |
E580D |
probably benign |
Het |
Ttn |
A |
T |
2: 76,541,166 (GRCm39) |
V33940E |
probably benign |
Het |
Upp2 |
G |
T |
2: 58,681,817 (GRCm39) |
R318L |
probably benign |
Het |
Vezt |
T |
A |
10: 93,832,795 (GRCm39) |
E205D |
probably benign |
Het |
Vmn1r177 |
A |
G |
7: 23,565,535 (GRCm39) |
F114L |
probably benign |
Het |
Vmn2r53 |
C |
A |
7: 12,315,513 (GRCm39) |
E769* |
probably null |
Het |
Vnn3 |
T |
C |
10: 23,741,840 (GRCm39) |
Y382H |
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 |
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'- CAGTGTATTCAGGCAGAATCCTTC -3'
(R):5'- TGGGCTCACCTGTGACATTTG -3'
Sequencing Primer
(F):5'- GACCTACCGGGACTTACTCTG -3'
(R):5'- GCTCACCTGTGACATTTGGAAGTAC -3'
|
Posted On |
2019-05-15 |