Mutagenetix > Incidental Mutation

Incidental Mutation 'R8213:Cdk11b'

636248

Institutional Source

Beutler Lab

Gene Symbol

Cdk11b

Ensembl Gene

ENSMUSG00000029062

Gene Name

cyclin-dependent kinase 11B

Synonyms

PITSLRE proteins, CDK11-p110, Cdc2l1, Cdc2l2, CDK11-p46, CDK11-p58

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8213 (G1)

Quality Score

146.008

Status

Validated

Chromosome

Chromosomal Location

155624854-155649938 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 155639881 bp (GRCm38)

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: 60,919,756	Y277C	probably damaging	Het
Acss1	T	A	2: 150,619,710	D651V	possibly damaging	Het
Aktip	G	T	8: 91,124,866	P243H	possibly damaging	Het
Arl11	T	G	14: 61,311,265	S175A	probably benign	Het
Aup1	A	G	6: 83,054,607		probably benign	Het
Avil	A	T	10: 127,008,321	I250F	probably damaging	Het
Btnl6	A	T	17: 34,508,883		probably null	Het
C77080	A	T	4: 129,221,459	V1070D	possibly damaging	Het
Ccdc7b	C	A	8: 129,178,291	Q137K	probably benign	Het
Chka	A	C	19: 3,885,882	E196A	probably damaging	Het
Depdc5	C	T	5: 32,937,637	R753C	probably damaging	Het
Dhx57	T	A	17: 80,275,156	D340V	possibly damaging	Het
Dicer1	A	T	12: 104,702,693	D1243E	probably benign	Het
Dnajb9	A	T	12: 44,207,133	L164M	probably benign	Het
Dock6	A	G	9: 21,831,444	V785A	possibly damaging	Het
Efcab5	T	C	11: 77,116,071	Y909C	probably damaging	Het
Erp44	A	T	4: 48,208,783	S226T	probably benign	Het
Fgd6	A	T	10: 94,044,052	D256V	probably benign	Het
Fhl5	A	T	4: 25,207,113	Y218*	probably null	Het
Filip1	C	A	9: 79,818,092	A1082S	probably benign	Het
Gm13088	T	A	4: 143,654,185	M423L	probably benign	Het
Gm13128	A	T	4: 144,330,460	D71V	probably benign	Het
Heatr5a	G	A	12: 51,891,443	T1484M	probably damaging	Het
Herc1	G	T	9: 66,450,888	R2417L	probably damaging	Het
Hnrnpr	A	G	4: 136,317,175		probably benign	Het
Igsf5	A	T	16: 96,372,988	I73F	probably damaging	Het
Il17ra	T	C	6: 120,473,034	V91A	probably benign	Het
Inpp5f	A	G	7: 128,679,805	D510G	probably damaging	Het
Kbtbd3	A	G	9: 4,331,269	K548E	probably damaging	Het
Kdm5d	T	A	Y: 941,515	C1239S	probably damaging	Het
Mamdc4	G	A	2: 25,566,356	T709M	probably benign	Het
Mybbp1a	T	A	11: 72,444,721	Y353N	probably damaging	Het
Nepn	A	T	10: 52,391,759	E40D	probably benign	Het
Npat	G	T	9: 53,570,570	E1193*	probably null	Het
Nrde2	G	A	12: 100,131,003	S846L	probably benign	Het
Nup205	T	C	6: 35,225,203	V1290A	probably benign	Het
Olfr1009	T	A	2: 85,721,501	L32Q	probably null	Het
Olfr1424	A	G	19: 12,059,092	V220A	probably benign	Het
Olfr517	C	A	7: 108,868,519	V212L	probably benign	Het
Pde6a	A	T	18: 61,220,696	K31M	possibly damaging	Het
Pms2	C	T	5: 143,914,771	R169C	probably damaging	Het
Polr2g	A	T	19: 8,798,257	L30Q	probably damaging	Het
Prdm15	T	A	16: 97,807,060	H679L	probably damaging	Het
Prl4a1	T	G	13: 28,023,386	Y214*	probably null	Het
Prlr	C	T	15: 10,329,242	T601M	possibly damaging	Het
Psen2	A	C	1: 180,245,691	S22A	probably benign	Het
Ralgapa1	C	A	12: 55,722,914	R764L	probably damaging	Het
Scgb2b11	T	C	7: 32,209,408	E89G	probably damaging	Het
Serpina10	T	C	12: 103,628,277	I228V	probably benign	Het
Serpinb1a	T	A	13: 32,842,999	H320L	probably damaging	Het
Sesn2	C	A	4: 132,498,053	Q267H	possibly damaging	Het
Sgsm1	A	T	5: 113,251,011	W1019R	probably damaging	Het
Sqle	A	G	15: 59,321,302		probably null	Het
Syt14	T	C	1: 192,986,829	M39V	probably benign	Het
Tgm7	A	G	2: 121,101,064	V206A	probably damaging	Het
Thbs4	T	C	13: 92,760,586		probably null	Het
Trpv1	T	C	11: 73,254,251	F721S	probably damaging	Het
Ttll10	A	T	4: 156,036,234	M433K	probably benign	Het
Vmn1r216	T	C	13: 23,099,525	I126T	probably benign	Het
Vmn2r108	G	A	17: 20,470,088	S494F	probably benign	Het
Vwa3b	C	T	1: 37,128,939	A603V	probably benign	Het
Xirp2	T	A	2: 67,476,866	N19K	probably damaging	Het
Zfp397	T	A	18: 23,960,722	N421K	probably damaging	Het
Zscan5b	C	T	7: 6,233,947	P232S	possibly damaging	Het

Other mutations in Cdk11b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01764:Cdk11b	APN	4	155628803	missense	possibly damaging	0.54
R0071:Cdk11b	UTSW	4	155649423	unclassified	probably benign
R0071:Cdk11b	UTSW	4	155649423	unclassified	probably benign
R0145:Cdk11b	UTSW	4	155641619	intron	probably benign
R0372:Cdk11b	UTSW	4	155641500	intron	probably benign
R0426:Cdk11b	UTSW	4	155642512	intron	probably benign
R0471:Cdk11b	UTSW	4	155647542	unclassified	probably benign
R0627:Cdk11b	UTSW	4	155640772	intron	probably benign
R1475:Cdk11b	UTSW	4	155634217	missense	probably damaging	1.00
R1611:Cdk11b	UTSW	4	155641575	intron	probably benign
R1719:Cdk11b	UTSW	4	155648397	unclassified	probably benign
R1750:Cdk11b	UTSW	4	155628680	splice site	probably null
R2061:Cdk11b	UTSW	4	155641604	intron	probably benign
R2274:Cdk11b	UTSW	4	155647594	unclassified	probably benign
R2922:Cdk11b	UTSW	4	155640744	intron	probably benign
R3719:Cdk11b	UTSW	4	155626886	missense	probably damaging	1.00
R3917:Cdk11b	UTSW	4	155626801	missense	probably damaging	1.00
R4077:Cdk11b	UTSW	4	155639747	intron	probably benign
R4078:Cdk11b	UTSW	4	155639747	intron	probably benign
R5033:Cdk11b	UTSW	4	155648825	unclassified	probably benign
R5212:Cdk11b	UTSW	4	155638615	splice site	probably null
R5556:Cdk11b	UTSW	4	155634147	nonsense	probably null
R5622:Cdk11b	UTSW	4	155630217	missense	probably damaging	1.00
R5927:Cdk11b	UTSW	4	155648240	unclassified	probably benign
R5975:Cdk11b	UTSW	4	155648240	unclassified	probably benign
R6276:Cdk11b	UTSW	4	155634190	missense	probably benign	0.11
R6278:Cdk11b	UTSW	4	155649603	unclassified	probably benign
R6905:Cdk11b	UTSW	4	155641608	intron	probably benign
R6998:Cdk11b	UTSW	4	155648343	nonsense	probably null
R7021:Cdk11b	UTSW	4	155641567	intron	probably benign
R7062:Cdk11b	UTSW	4	155626811	missense	probably damaging	1.00
R7100:Cdk11b	UTSW	4	155625593	missense	probably damaging	1.00
R7338:Cdk11b	UTSW	4	155647551	missense	unknown
R7811:Cdk11b	UTSW	4	155639902	missense	unknown
R8257:Cdk11b	UTSW	4	155647941	missense	unknown
R8696:Cdk11b	UTSW	4	155648322	missense	unknown
R9419:Cdk11b	UTSW	4	155639845	missense	unknown
R9546:Cdk11b	UTSW	4	155649132	missense	unknown
R9628:Cdk11b	UTSW	4	155649697	missense	unknown
R9792:Cdk11b	UTSW	4	155647921	missense	unknown
R9793:Cdk11b	UTSW	4	155647921	missense	unknown
Z1088:Cdk11b	UTSW	4	155641564	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