Mutagenetix > Incidental Mutation

Incidental Mutation 'R1611:Cdk11b'

176788

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

039648-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1611 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155709311-155734395 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 155726032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067081] [ENSMUST00000105598] [ENSMUST00000105600] [ENSMUST00000115821]

AlphaFold

P24788

Predicted Effect

unknown
Transcript: ENSMUST00000067081
AA Change: G381D

SMART Domains

Protein: ENSMUSP00000070527
Gene: ENSMUSG00000029062
AA Change: G381D

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: G347D

SMART Domains

Protein: ENSMUSP00000101223
Gene: ENSMUSG00000029062
AA Change: G347D

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: G381D

SMART Domains

Protein: ENSMUSP00000101225
Gene: ENSMUSG00000029062
AA Change: G381D

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: ENSMUST00000142513

Meta Mutation Damage Score

0.0903

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	T	11: 54,216,390 (GRCm39)	I186F	possibly damaging	Het
Actr6	T	A	10: 89,568,064 (GRCm39)	K14*	probably null	Het
Adgrv1	A	T	13: 81,707,236 (GRCm39)	V1390E	probably damaging	Het
Akap1	C	T	11: 88,736,104 (GRCm39)	R186K	probably benign	Het
Alg10b	T	A	15: 90,109,984 (GRCm39)	V99D	probably damaging	Het
Atp2c1	C	T	9: 105,320,051 (GRCm39)	G407S	probably damaging	Het
Atp9a	T	C	2: 168,515,489 (GRCm39)	M401V	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bclaf1	T	C	10: 20,198,998 (GRCm39)		probably benign	Het
Bcr	T	A	10: 74,961,034 (GRCm39)		probably null	Het
Bivm	T	C	1: 44,165,907 (GRCm39)	I119T	possibly damaging	Het
Cacna1h	A	G	17: 25,600,445 (GRCm39)	I1632T	probably damaging	Het
Capn9	G	A	8: 125,338,251 (GRCm39)	V537M	possibly damaging	Het
Cdk18	T	A	1: 132,050,113 (GRCm39)	I21F	probably damaging	Het
Cep85l	T	C	10: 53,224,777 (GRCm39)	T271A	probably benign	Het
Chrm5	T	C	2: 112,309,532 (GRCm39)	N528S	possibly damaging	Het
Cpsf6	T	A	10: 117,197,733 (GRCm39)		probably benign	Het
Cpt1c	T	C	7: 44,609,536 (GRCm39)	T689A	probably benign	Het
D030068K23Rik	T	C	8: 109,975,935 (GRCm39)	Y64C	unknown	Het
Ddb1	T	A	19: 10,604,128 (GRCm39)		probably null	Het
Ddb1	T	A	19: 10,590,252 (GRCm39)	C260S	probably damaging	Het
Depdc5	C	A	5: 33,148,297 (GRCm39)	Q1478K	probably damaging	Het
Diaph1	A	C	18: 38,033,755 (GRCm39)	M247R	unknown	Het
Dnai3	T	C	3: 145,801,113 (GRCm39)	Y115C	probably damaging	Het
Dusp8	T	C	7: 141,636,694 (GRCm39)	S299G	probably benign	Het
Erbb4	C	A	1: 68,079,547 (GRCm39)	G1178C	probably damaging	Het
Exoc7	A	T	11: 116,186,091 (GRCm39)	I370N	possibly damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Gm12353	T	A	4: 19,631,843 (GRCm39)	Y27*	probably null	Het
Gnl1	C	T	17: 36,298,441 (GRCm39)	T395I	probably damaging	Het
Hpse2	G	A	19: 42,777,504 (GRCm39)	T554I	probably damaging	Het
Hsd17b11	T	C	5: 104,157,765 (GRCm39)	I116V	probably benign	Het
Inava	G	A	1: 136,143,855 (GRCm39)	P527L	probably damaging	Het
Kif24	A	T	4: 41,423,552 (GRCm39)	V233E	probably benign	Het
Klhl5	A	G	5: 65,321,992 (GRCm39)	T673A	probably benign	Het
Kmt2c	C	A	5: 25,564,309 (GRCm39)		probably null	Het
Lipg	T	C	18: 75,081,130 (GRCm39)	N317S	possibly damaging	Het
Lpin1	A	T	12: 16,627,219 (GRCm39)	L109Q	probably null	Het
Lyst	A	G	13: 13,809,482 (GRCm39)	E384G	probably damaging	Het
Mical2	T	A	7: 111,980,671 (GRCm39)	I105N	probably damaging	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Naa35	G	T	13: 59,776,747 (GRCm39)	R574L	probably benign	Het
Ncor2	T	C	5: 125,187,084 (GRCm39)		probably benign	Het
Nedd9	T	A	13: 41,470,406 (GRCm39)	D249V	probably benign	Het
Nsg1	T	A	5: 38,296,060 (GRCm39)	K38*	probably null	Het
Nup155	T	A	15: 8,159,644 (GRCm39)	D518E	probably damaging	Het
Or5i1	T	A	2: 87,612,968 (GRCm39)	I28N	probably benign	Het
Ovol1	T	A	19: 5,601,098 (GRCm39)	H231L	probably damaging	Het
Parg	A	G	14: 31,960,527 (GRCm39)	I586V	probably damaging	Het
Pde7b	T	C	10: 20,310,236 (GRCm39)	N242S	probably benign	Het
Pias3	T	A	3: 96,607,013 (GRCm39)		probably null	Het
Pramel13	A	T	4: 144,119,382 (GRCm39)	V395E	probably benign	Het
Ptprf	A	G	4: 118,093,430 (GRCm39)	V404A	probably benign	Het
Rigi	T	C	4: 40,223,862 (GRCm39)	Y339C	probably damaging	Het
Rnf145	T	C	11: 44,442,625 (GRCm39)	L259P	probably damaging	Het
Rps6ka5	C	G	12: 100,537,111 (GRCm39)	V540L	possibly damaging	Het
Ryr3	C	T	2: 112,483,850 (GRCm39)	D3966N	possibly damaging	Het
Samd9l	A	T	6: 3,373,771 (GRCm39)	S1163R	probably benign	Het
Serpinb9g	T	C	13: 33,676,857 (GRCm39)	I213T	possibly damaging	Het
Sil1	A	T	18: 35,402,141 (GRCm39)	V331E	possibly damaging	Het
Ski	A	G	4: 155,244,395 (GRCm39)	F410S	probably damaging	Het
Slc25a25	C	T	2: 32,310,391 (GRCm39)	E123K	probably damaging	Het
Slfnl1	A	G	4: 120,390,574 (GRCm39)	E75G	probably benign	Het
Sp1	T	A	15: 102,339,370 (GRCm39)	I436N	probably damaging	Het
Taf4b	A	T	18: 14,977,526 (GRCm39)	E766V	probably null	Het
Tgfbr1	A	G	4: 47,396,526 (GRCm39)	Y180C	probably damaging	Het
Ube4a	T	C	9: 44,868,035 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 64,011,958 (GRCm39)	C606*	probably null	Het
Zfp341	C	A	2: 154,487,623 (GRCm39)	H702Q	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
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
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'- AAACACGGGGTCTTCCACTTCTGC -3'
(R):5'- TGCTGCTATGACTAGCCAGTCCAC -3'

Sequencing Primer
(F):5'- CTTCTGCACAGCCCCATAG -3'
(R):5'- TCCACTGCACGGAGAATG -3'

Posted On

2014-04-24