Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Cdk11b'

471673

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155624854-155649938 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 155648240 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111488 (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

probably benign
Transcript: ENSMUST00000067081

SMART Domains

Protein: ENSMUSP00000070527
Gene: ENSMUSG00000029062

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 benign
Transcript: ENSMUST00000105600

SMART Domains

Protein: ENSMUSP00000101225
Gene: ENSMUSG00000029062

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: ENSMUST00000130944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156906

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,969,221	T2233I	possibly damaging	Het
9430038I01Rik	T	C	7: 137,387,292		probably benign	Het
Abhd14a	A	T	9: 106,443,951		probably null	Het
Actn2	T	C	13: 12,340,497	N2D	probably benign	Het
Adcy9	T	C	16: 4,311,567	E722G	probably damaging	Het
Alox12	C	A	11: 70,242,783	V572L	possibly damaging	Het
Ankrd11	T	C	8: 122,889,749	I2434V	possibly damaging	Het
Anks1	T	A	17: 27,991,447		probably null	Het
Bpifa3	T	A	2: 154,136,321	S148T	probably damaging	Het
Bptf	C	T	11: 107,035,864		probably benign	Het
Cabin1	A	T	10: 75,657,839	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,827,235	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,117,478	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,470,619	G280E	probably benign	Het
Celsr1	G	T	15: 85,919,038		probably null	Het
Cenpj	A	T	14: 56,564,066	I150N	possibly damaging	Het
Cep135	C	A	5: 76,640,890	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,146,626	H224N	probably damaging	Het
Cul5	T	C	9: 53,622,793	R680G	probably damaging	Het
Dhx58	C	A	11: 100,702,209	R224L	probably damaging	Het
Dlx1	C	A	2: 71,531,009	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,282	D279A	probably damaging	Het
Enpp3	A	G	10: 24,774,842	W799R	probably benign	Het
Ercc5	A	G	1: 44,173,406	T675A	probably benign	Het
Farsa	T	A	8: 84,864,432		probably null	Het
Fbxw15	A	T	9: 109,555,252	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,442,103	V62I	probably benign	Het
Gart	A	G	16: 91,624,336	S815P	probably damaging	Het
Glrx5	A	G	12: 105,040,323	N111S	possibly damaging	Het
Gm10845	A	G	14: 79,863,174		noncoding transcript	Het
Gm11639	A	G	11: 104,687,549		probably benign	Het
Gm8882	A	G	6: 132,362,073	S61P	unknown	Het
Gm9925	T	A	18: 74,065,516		probably benign	Het
Gsdme	T	C	6: 50,227,359	N206S	probably benign	Het
Helz2	T	C	2: 181,231,050	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,754,359	S93P	possibly damaging	Het
Ints2	A	T	11: 86,226,748	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,905,128	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,570,321	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,892,470	I255N	probably benign	Het
Myh6	A	G	14: 54,950,508	I1163T	probably benign	Het
Nphs1	A	T	7: 30,466,115	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,500,788	L124Q	probably damaging	Het
Obscn	C	T	11: 59,122,619		probably null	Het
P4ha2	G	A	11: 54,126,412		probably null	Het
Pcdha9	T	A	18: 36,999,111	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,525,988	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,892,253	V106A	probably benign	Het
Plekhm1	A	T	11: 103,376,691	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,065,370		probably benign	Het
Prmt9	T	C	8: 77,561,018		probably benign	Het
Rab26	T	C	17: 24,530,399	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,429,580	S942P	probably damaging	Het
Scgb2b18	T	C	7: 33,173,225	T52A	probably damaging	Het
Syt3	C	T	7: 44,392,763	Q349*	probably null	Het
Tas2r107	T	C	6: 131,659,780	N102S	probably benign	Het
Tas2r126	T	A	6: 42,435,000	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,642,778	I105N	probably benign	Het
Tet1	A	C	10: 62,879,773	M81R	probably benign	Het
Togaram2	T	C	17: 71,729,205	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,314,271		noncoding transcript	Het
Ttn	G	A	2: 76,761,235	T12703I	probably damaging	Het
Unc79	A	G	12: 103,125,626	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,583,351	T372I	possibly damaging	Het
Wdr24	T	C	17: 25,827,128	S476P	probably benign	Het
Wdr78	G	A	4: 103,049,589	P676S	probably benign	Het
Zbtb1	T	C	12: 76,386,275	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,395,615	I29L	probably benign	Het
Zfp341	T	A	2: 154,630,441	C315S	probably damaging	Het
Zfp623	C	A	15: 75,948,163	R323S	probably benign	Het
Zfp831	T	A	2: 174,644,092	Y187N	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
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
R8213:Cdk11b	UTSW	4	155639881	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'- TCATGAGATAAGGCAGGGCATC -3'
(R):5'- ACCTTGAGAATGCCAGCATG -3'

Sequencing Primer
(F):5'- CCTCTCTGGCATGCTGTGAG -3'
(R):5'- CATGGCTCAGCAGGAGGTTAG -3'

Posted On

2017-03-31