Mutagenetix > Incidental Mutation

Incidental Mutation 'R0612:Cdk10'

54825

Institutional Source

Beutler Lab

Gene Symbol

Cdk10

Ensembl Gene

ENSMUSG00000033862

Gene Name

cyclin dependent kinase 10

Synonyms

MMRRC Submission

038801-MU

Accession Numbers

Essential gene?

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

Stock #

R0612 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123951581-123958989 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123957419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 181 (V181A)

Ref Sequence

ENSEMBL: ENSMUSP00000148435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036880] [ENSMUST00000098327] [ENSMUST00000127664] [ENSMUST00000166768] [ENSMUST00000213005] [ENSMUST00000212193] [ENSMUST00000212361] [ENSMUST00000212818]

AlphaFold

Q3UMM4

Predicted Effect

probably benign
Transcript: ENSMUST00000036880
AA Change: V252A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000045527
Gene: ENSMUSG00000033862
AA Change: V252A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000098327

SMART Domains

Protein: ENSMUSP00000095932
Gene: ENSMUSG00000033594

Domain	Start	End	E-Value	Type
low complexity region	74	91	N/A	INTRINSIC
low complexity region	209	214	N/A	INTRINSIC
low complexity region	294	308	N/A	INTRINSIC
low complexity region	309	318	N/A	INTRINSIC
low complexity region	340	347	N/A	INTRINSIC

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

probably benign
Transcript: ENSMUST00000166768

SMART Domains

Protein: ENSMUSP00000130306
Gene: ENSMUSG00000033594

Domain	Start	End	E-Value	Type
low complexity region	74	91	N/A	INTRINSIC
low complexity region	209	214	N/A	INTRINSIC
low complexity region	294	308	N/A	INTRINSIC
low complexity region	309	318	N/A	INTRINSIC
low complexity region	340	347	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211876

Predicted Effect

probably benign
Transcript: ENSMUST00000213005
AA Change: V181A

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212784

Predicted Effect

probably benign
Transcript: ENSMUST00000212193

Predicted Effect

probably benign
Transcript: ENSMUST00000212028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212021

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212904

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212035

Predicted Effect

probably benign
Transcript: ENSMUST00000212361

Predicted Effect

probably benign
Transcript: ENSMUST00000212818

Meta Mutation Damage Score

0.2913

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.2%
20x: 93.5%

Validation Efficiency

98% (92/94)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,936,478 (GRCm39)	L181P	probably damaging	Het
Aldh3a1	A	T	11: 61,105,445 (GRCm39)	I184F	probably damaging	Het
Arl6ip4	A	G	5: 124,254,596 (GRCm39)	S30G	probably benign	Het
Atp9b	T	C	18: 80,797,171 (GRCm39)	E891G	possibly damaging	Het
Brsk1	T	C	7: 4,710,425 (GRCm39)	L478P	possibly damaging	Het
Btaf1	G	A	19: 36,946,537 (GRCm39)	V448I	probably damaging	Het
Cab39	T	C	1: 85,746,236 (GRCm39)		probably null	Het
Cacna2d4	G	T	6: 119,258,679 (GRCm39)		probably benign	Het
Capzb	C	T	4: 139,018,340 (GRCm39)	S253L	probably benign	Het
Ccdc174	A	G	6: 91,867,873 (GRCm39)		probably benign	Het
Ccdc180	C	T	4: 45,927,969 (GRCm39)	A1168V	probably damaging	Het
Cdh19	T	C	1: 110,820,900 (GRCm39)		probably benign	Het
Cdh8	T	C	8: 100,127,546 (GRCm39)	T22A	probably benign	Het
Ceacam15	A	C	7: 16,407,445 (GRCm39)	L24*	probably null	Het
Cftr	A	C	6: 18,198,125 (GRCm39)	T20P	probably benign	Het
Cip2a	C	T	16: 48,819,402 (GRCm39)	A112V	probably benign	Het
Clstn3	T	C	6: 124,426,459 (GRCm39)	T576A	probably damaging	Het
Col1a2	G	A	6: 4,516,003 (GRCm39)	V165I	unknown	Het
Copg2	A	T	6: 30,838,404 (GRCm39)		probably null	Het
Cps1	A	G	1: 67,178,929 (GRCm39)	H47R	probably benign	Het
Cytip	T	C	2: 58,024,202 (GRCm39)	D206G	possibly damaging	Het
Dcaf8l	G	A	X: 88,448,972 (GRCm39)	R386*	probably null	Het
Dnmt1	C	T	9: 20,829,489 (GRCm39)	E824K	probably damaging	Het
Dock7	A	C	4: 98,877,470 (GRCm39)	V442G	probably benign	Het
Dsc1	T	G	18: 20,247,573 (GRCm39)	K14T	probably damaging	Het
Dync1h1	C	T	12: 110,582,930 (GRCm39)	P371L	probably damaging	Het
Enah	A	G	1: 181,734,013 (GRCm39)		probably benign	Het
Entrep2	C	T	7: 64,411,549 (GRCm39)	V395M	probably benign	Het
Fastkd1	T	C	2: 69,542,727 (GRCm39)	T27A	probably benign	Het
Fcho1	A	G	8: 72,168,168 (GRCm39)	L248P	probably damaging	Het
Fezf1	A	T	6: 23,247,028 (GRCm39)	V268D	probably damaging	Het
Fgd2	T	A	17: 29,597,321 (GRCm39)	V547E	probably benign	Het
Flnb	T	A	14: 7,887,682 (GRCm38)		probably benign	Het
Gabrg3	A	G	7: 56,379,454 (GRCm39)	M316T	probably damaging	Het
Gigyf2	T	C	1: 87,376,802 (GRCm39)	F1265L	probably damaging	Het
Git2	A	G	5: 114,890,342 (GRCm39)	S271P	probably damaging	Het
Gorab	T	C	1: 163,224,738 (GRCm39)	D21G	possibly damaging	Het
Gpr179	T	A	11: 97,229,264 (GRCm39)	T964S	possibly damaging	Het
Hdac5	A	G	11: 102,087,078 (GRCm39)	V1042A	possibly damaging	Het
Hoxa2	T	A	6: 52,140,540 (GRCm39)	T149S	probably damaging	Het
Igsf8	G	T	1: 172,146,974 (GRCm39)	*108L	probably null	Het
Il1rap	C	T	16: 26,519,855 (GRCm39)	T307M	possibly damaging	Het
Itih2	T	C	2: 10,122,205 (GRCm39)	D232G	probably benign	Het
Jak3	A	G	8: 72,136,021 (GRCm39)	Y607C	probably damaging	Het
Kcnh1	C	T	1: 191,959,361 (GRCm39)	P305L	probably damaging	Het
Lrrc7	T	A	3: 157,869,990 (GRCm39)	I644F	probably damaging	Het
Lrrn2	T	C	1: 132,865,466 (GRCm39)	L177P	probably damaging	Het
Lypd8l	A	G	11: 58,502,799 (GRCm39)		probably null	Het
Map4k3	C	A	17: 80,909,622 (GRCm39)	K712N	probably damaging	Het
Med11	A	G	11: 70,342,910 (GRCm39)	T36A	probably benign	Het
Mmp14	A	G	14: 54,677,891 (GRCm39)	D504G	probably damaging	Het
Mob1a	A	G	6: 83,311,140 (GRCm39)	T120A	probably benign	Het
Mr1	T	A	1: 155,013,436 (GRCm39)	D47V	probably damaging	Het
Nacad	G	T	11: 6,551,382 (GRCm39)	A603E	possibly damaging	Het
Nwd1	T	A	8: 73,394,308 (GRCm39)	W524R	probably damaging	Het
Or11g26	A	T	14: 50,752,939 (GRCm39)	T93S	probably benign	Het
Or13a19	T	A	7: 139,903,101 (GRCm39)	M163K	possibly damaging	Het
Or4e1	T	C	14: 52,701,008 (GRCm39)	T153A	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pde6c	T	A	19: 38,121,694 (GRCm39)	C101S	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pdlim4	G	A	11: 53,959,713 (GRCm39)	R16C	probably damaging	Het
Pfkp	A	G	13: 6,655,670 (GRCm39)		probably null	Het
Plcg2	T	A	8: 118,300,104 (GRCm39)	S225T	probably benign	Het
Pramel1	T	C	4: 143,124,101 (GRCm39)	S259P	probably damaging	Het
Pramel27	G	T	4: 143,578,658 (GRCm39)		probably benign	Het
Rc3h2	T	C	2: 37,301,227 (GRCm39)	N92D	possibly damaging	Het
Ric8b	C	A	10: 84,837,745 (GRCm39)	N517K	probably damaging	Het
Rnf34	G	A	5: 123,002,237 (GRCm39)	R65H	probably damaging	Het
Rraga	C	T	4: 86,494,564 (GRCm39)	R137C	probably damaging	Het
Scube2	C	T	7: 109,403,971 (GRCm39)		probably benign	Het
Slc28a2b	T	C	2: 122,352,179 (GRCm39)	M339T	probably damaging	Het
Spata31d1d	T	C	13: 59,875,787 (GRCm39)	I583V	probably benign	Het
Suox	T	C	10: 128,506,525 (GRCm39)	E501G	probably benign	Het
Susd1	A	G	4: 59,390,561 (GRCm39)		probably benign	Het
Tac1	T	C	6: 7,555,653 (GRCm39)	S14P	probably damaging	Het
Tbc1d8	T	C	1: 39,411,596 (GRCm39)	E1080G	possibly damaging	Het
Tll1	A	C	8: 64,524,344 (GRCm39)	S447R	possibly damaging	Het
Tmem132e	G	A	11: 82,334,198 (GRCm39)	V662M	probably damaging	Het
Upf2	G	T	2: 6,038,909 (GRCm39)		probably benign	Het
Uspl1	A	G	5: 149,151,767 (GRCm39)	E989G	probably damaging	Het
Vmn1r58	T	C	7: 5,413,618 (GRCm39)	H204R	probably damaging	Het
Vmn2r25	A	T	6: 123,816,481 (GRCm39)	C367S	probably damaging	Het
Vps13b	A	T	15: 35,623,803 (GRCm39)	Q1240L	probably benign	Het
Xrcc1	C	T	7: 24,269,744 (GRCm39)		probably benign	Het
Yeats2	T	G	16: 20,005,175 (GRCm39)	V385G	probably benign	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
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
R5453:Cdk10	UTSW	8	123,953,131 (GRCm39)	missense	probably benign	0.42
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'- AGCTGCTGCTTGGAACTACCAC -3'
(R):5'- GGGCTGTTTCCTCAAGCTGTACTG -3'

Sequencing Primer
(F):5'- TACCAGCATTGACATGTGGTAG -3'
(R):5'- GAGAAACCCTGTAAGAGGCA -3'

Posted On

2013-07-11