Mutagenetix > Incidental Mutation

Incidental Mutation 'R5453:Cdk10'

432633

Institutional Source

Beutler Lab

Gene Symbol

Cdk10

Ensembl Gene

ENSMUSG00000033862

Gene Name

cyclin dependent kinase 10

Synonyms

MMRRC Submission

043017-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R5453 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123951581-123958989 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123953131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 45 (I45V)

Ref Sequence

ENSEMBL: ENSMUSP00000148436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036880] [ENSMUST00000060133] [ENSMUST00000127664] [ENSMUST00000212193] [ENSMUST00000212361] [ENSMUST00000212637] [ENSMUST00000212523] [ENSMUST00000213005]

AlphaFold

Q3UMM4

Predicted Effect

probably benign
Transcript: ENSMUST00000036880
AA Change: I45V

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000045527
Gene: ENSMUSG00000033862
AA Change: I45V

Domain	Start	End	E-Value	Type
S_TKc	39	323	1.52e-87	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000060133

SMART Domains

Protein: ENSMUSP00000058002
Gene: ENSMUSG00000048478

Domain	Start	End	E-Value	Type
low complexity region	4	28	N/A	INTRINSIC
Pfam:DUF4609	63	130	3.4e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212021

Predicted Effect

unknown
Transcript: ENSMUST00000212028
AA Change: I43V

Predicted Effect

probably benign
Transcript: ENSMUST00000212193
AA Change: I45V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000212361
AA Change: I45V

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212271

Predicted Effect

probably benign
Transcript: ENSMUST00000212637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212532

Predicted Effect

probably benign
Transcript: ENSMUST00000212523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212497

Predicted Effect

probably benign
Transcript: ENSMUST00000213005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212904

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene belongs to the CDK (cyclin-dependent kinase) subfamily of the Ser/Thr protein kinase family. The CDK subfamily members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and are known to be essential for cell cycle progression. The human ortholog has been shown to play a role in cellular proliferation. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene exists on chromosome 1. [provided by RefSeq, Jan 2010]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,210,622 (GRCm39)	Q186*	probably null	Het
Adamts20	T	C	15: 94,223,969 (GRCm39)	E1253G	possibly damaging	Het
Adgrd1	T	C	5: 129,256,647 (GRCm39)	F640S	probably damaging	Het
Anxa1	C	T	19: 20,357,703 (GRCm39)		probably null	Het
Babam2	A	G	5: 32,164,590 (GRCm39)	E288G	probably damaging	Het
Cd163	C	T	6: 124,289,500 (GRCm39)	A406V	probably damaging	Het
Cdh13	A	T	8: 119,925,706 (GRCm39)	D358V	probably damaging	Het
Crybg2	A	T	4: 133,806,147 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,359,330 (GRCm39)	D3555G	probably damaging	Het
Dync1h1	A	G	12: 110,599,099 (GRCm39)	D1818G	probably benign	Het
Emsy	T	C	7: 98,250,013 (GRCm39)	K758R	probably damaging	Het
Fat3	A	G	9: 15,908,160 (GRCm39)	V2614A	probably damaging	Het
Hivep2	T	C	10: 14,003,972 (GRCm39)	I190T	possibly damaging	Het
Hoxb3	T	C	11: 96,235,480 (GRCm39)	S136P	probably damaging	Het
Hras	A	C	7: 140,772,768 (GRCm39)	V29G	probably damaging	Het
Hycc1	A	G	5: 24,192,877 (GRCm39)		probably null	Het
Igll1	A	G	16: 16,681,558 (GRCm39)		probably null	Het
Insr	G	A	8: 3,205,694 (GRCm39)	T1365I	probably benign	Het
Kitl	T	A	10: 99,923,247 (GRCm39)	W187R	probably damaging	Het
Klb	T	A	5: 65,540,728 (GRCm39)	F940L	probably benign	Het
Lrp1b	C	T	2: 41,172,249 (GRCm39)	R725K	probably damaging	Het
Map4	C	T	9: 109,866,851 (GRCm39)		probably benign	Het
Mrps35	A	G	6: 146,972,115 (GRCm39)	S253G	probably benign	Het
Mycbp2	C	T	14: 103,438,837 (GRCm39)	E2015K	probably damaging	Het
Nyap2	A	C	1: 81,169,857 (GRCm39)	I205L	probably benign	Het
Or12d13	T	C	17: 37,647,953 (GRCm39)	M57V	possibly damaging	Het
Or6k14	A	G	1: 173,927,033 (GRCm39)	K3R	probably benign	Het
Rab11fip3	C	T	17: 26,211,555 (GRCm39)		probably null	Het
Rbm47	A	G	5: 66,184,525 (GRCm39)	V26A	probably benign	Het
Ripk2	A	T	4: 16,151,989 (GRCm39)	I190N	probably damaging	Het
Spmip4	A	G	6: 50,572,776 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ttc17	A	T	2: 94,133,905 (GRCm39)	N1150K	probably damaging	Het
Zfp108	G	T	7: 23,960,689 (GRCm39)	G427W	probably damaging	Het
Zfp84	A	G	7: 29,475,722 (GRCm39)	E138G	possibly damaging	Het

Other mutations in Cdk10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Cdk10	APN	8	123,957,063 (GRCm39)	missense	possibly damaging	0.78
IGL01613:Cdk10	APN	8	123,955,126 (GRCm39)	missense	probably damaging	0.99
IGL01682:Cdk10	APN	8	123,954,397 (GRCm39)	critical splice acceptor site	probably null
IGL02536:Cdk10	APN	8	123,953,754 (GRCm39)	missense	possibly damaging	0.64
R0612:Cdk10	UTSW	8	123,957,419 (GRCm39)	missense	probably benign	0.16
R1159:Cdk10	UTSW	8	123,955,062 (GRCm39)	splice site	probably benign
R2356:Cdk10	UTSW	8	123,955,908 (GRCm39)	missense	probably damaging	0.99
R4838:Cdk10	UTSW	8	123,957,353 (GRCm39)	missense	probably damaging	1.00
R5517:Cdk10	UTSW	8	123,957,326 (GRCm39)	splice site	probably null
R5804:Cdk10	UTSW	8	123,955,579 (GRCm39)	splice site	probably null
R6930:Cdk10	UTSW	8	123,957,347 (GRCm39)	missense	probably damaging	1.00
R6971:Cdk10	UTSW	8	123,954,413 (GRCm39)	missense	probably damaging	1.00
R7910:Cdk10	UTSW	8	123,953,105 (GRCm39)	missense	probably damaging	1.00
R8356:Cdk10	UTSW	8	123,955,096 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGTGATTCCAGTGGTATCTGTCC -3'
(R):5'- CTGCAGGGAGCTTTGGAAAG -3'

Sequencing Primer
(F):5'- GTCCCCTTCACTCATCAGAAAATTC -3'
(R):5'- GAGCTTTGGAAAGTAGTGCATTTTAC -3'

Posted On

2016-10-06