Mutagenetix > Incidental Mutation

Incidental Mutation 'R2356:Cdk10'

246936

Institutional Source

Beutler Lab

Gene Symbol

Cdk10

Ensembl Gene

ENSMUSG00000033862

Gene Name

cyclin dependent kinase 10

Synonyms

MMRRC Submission

040338-MU

Accession Numbers

Essential gene?

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

Stock #

R2356 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123951581-123958989 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123955908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 199 (V199A)

Ref Sequence

ENSEMBL: ENSMUSP00000045527 (fasta)

Gene Model

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

AlphaFold

Q3UMM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000036880
AA Change: V199A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045527
Gene: ENSMUSG00000033862
AA Change: V199A

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: ENSMUST00000211845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212021

Predicted Effect

probably damaging
Transcript: ENSMUST00000213005
AA Change: V128A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000212028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212904

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212035

Predicted Effect

probably benign
Transcript: ENSMUST00000212193

Predicted Effect

probably benign
Transcript: ENSMUST00000212361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212532

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	G	T	16: 20,379,249 (GRCm39)	R705L	probably benign	Het
Adcy6	A	T	15: 98,494,897 (GRCm39)		probably null	Het
Ank1	A	T	8: 23,575,688 (GRCm39)	T145S	probably damaging	Het
Aph1a	T	C	3: 95,801,544 (GRCm39)	F21S	probably benign	Het
Apoa5	T	A	9: 46,181,341 (GRCm39)	V139E	probably damaging	Het
Arhgap44	T	C	11: 64,900,851 (GRCm39)	K595R	probably damaging	Het
Arhgap5	C	T	12: 52,565,930 (GRCm39)	P967L	probably benign	Het
Atp13a5	A	T	16: 29,099,887 (GRCm39)	I683N	probably damaging	Het
Cdc6	A	G	11: 98,810,118 (GRCm39)	T476A	probably benign	Het
Ces2h	G	A	8: 105,742,570 (GRCm39)	C94Y	probably damaging	Het
Clcn1	G	A	6: 42,268,559 (GRCm39)	G155D	probably damaging	Het
Cxcr4	A	G	1: 128,517,251 (GRCm39)	Y135H	probably damaging	Het
Dapp1	A	G	3: 137,643,510 (GRCm39)	V184A	possibly damaging	Het
Dhrs7	A	C	12: 72,699,155 (GRCm39)	S276A	probably benign	Het
Dlg5	A	G	14: 24,220,496 (GRCm39)		probably null	Het
Dnaaf1	T	A	8: 120,315,026 (GRCm39)	F278Y	probably damaging	Het
Dnaaf2	A	G	12: 69,244,992 (GRCm39)	F23S	probably benign	Het
En2	G	T	5: 28,371,330 (GRCm39)		probably benign	Het
Erbb4	T	A	1: 68,117,755 (GRCm39)	M887L	probably benign	Het
Exoc5	T	C	14: 49,253,738 (GRCm39)	M482V	probably benign	Het
Foxk1	A	G	5: 142,441,164 (GRCm39)	I571V	possibly damaging	Het
Fry	G	A	5: 150,394,897 (GRCm39)	G650D	probably benign	Het
Gm8225	T	C	17: 26,762,378 (GRCm39)	S190P	probably damaging	Het
Gpx5	G	C	13: 21,475,538 (GRCm39)	H63D	possibly damaging	Het
Ipo9	A	T	1: 135,334,555 (GRCm39)	S285T	probably benign	Het
Itga8	T	C	2: 12,204,952 (GRCm39)	H495R	probably benign	Het
Klf11	T	C	12: 24,703,582 (GRCm39)	S6P	probably damaging	Het
Krtap8-1	A	T	16: 89,284,789 (GRCm39)	Y3N	possibly damaging	Het
Krtap8-1	G	T	16: 89,284,790 (GRCm39)	Y2*	probably null	Het
Lama1	T	A	17: 68,117,109 (GRCm39)	L2468Q	probably damaging	Het
Lmo7	T	C	14: 102,124,381 (GRCm39)	L280S	probably damaging	Het
Matk	G	A	10: 81,097,377 (GRCm39)		probably null	Het
Mcmdc2	A	G	1: 10,001,026 (GRCm39)	T434A	possibly damaging	Het
Mst1r	T	A	9: 107,795,069 (GRCm39)	L1283Q	probably damaging	Het
Muc21	A	G	17: 35,932,563 (GRCm39)		probably benign	Het
Nbn	T	A	4: 15,970,863 (GRCm39)	I282N	probably damaging	Het
Ncln	A	G	10: 81,328,756 (GRCm39)	V174A	probably benign	Het
Nipa2	G	A	7: 55,582,714 (GRCm39)	H344Y	probably benign	Het
Nlrp4g	A	G	9: 124,349,306 (GRCm38)		noncoding transcript	Het
Or56b1	G	T	7: 104,285,834 (GRCm39)	E318*	probably null	Het
Or6c38	T	C	10: 128,929,761 (GRCm39)	I27M	probably benign	Het
Pik3r5	T	C	11: 68,383,743 (GRCm39)	S521P	probably damaging	Het
Pkhd1l1	C	T	15: 44,396,415 (GRCm39)	T1979M	probably benign	Het
Plekhn1	T	G	4: 156,307,158 (GRCm39)	D464A	probably damaging	Het
Ppp4r1	T	A	17: 66,140,045 (GRCm39)	Y648N	probably damaging	Het
Prkaa2	C	T	4: 104,896,918 (GRCm39)		probably null	Het
Prkdc	T	A	16: 15,502,068 (GRCm39)	H828Q	probably benign	Het
Prss40	A	T	1: 34,598,984 (GRCm39)	Y69*	probably null	Het
Prx	C	T	7: 27,207,284 (GRCm39)		probably benign	Het
Psmd11	T	A	11: 80,319,530 (GRCm39)	S7T	possibly damaging	Het
Psmd14	A	T	2: 61,630,351 (GRCm39)	H287L	probably benign	Het
Rcor1	T	C	12: 111,076,226 (GRCm39)	Y297H	probably damaging	Het
Rnf40	T	G	7: 127,190,748 (GRCm39)	V272G	probably damaging	Het
Serpina3f	G	T	12: 104,183,626 (GRCm39)	E163*	probably null	Het
Setd4	G	A	16: 93,387,871 (GRCm39)	T205I	probably damaging	Het
Shroom1	A	T	11: 53,357,274 (GRCm39)	T646S	probably benign	Het
Smg8	G	C	11: 86,976,554 (GRCm39)	S342R	probably benign	Het
Spata31h1	A	G	10: 82,119,789 (GRCm39)	V4407A	possibly damaging	Het
Trhde	T	C	10: 114,237,421 (GRCm39)	Y986C	probably damaging	Het
Tulp2	A	T	7: 45,168,052 (GRCm39)	T155S	possibly damaging	Het
Vmn1r212	A	T	13: 23,068,120 (GRCm39)	L71*	probably null	Het
Wnk2	A	T	13: 49,192,644 (GRCm39)	C2032*	probably null	Het
Zfp429	A	G	13: 67,538,746 (GRCm39)	Y233H	probably benign	Het
Zfp809	C	A	9: 22,154,336 (GRCm39)	T351K	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
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
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'- GTGCTGACCCTGCATATGTG -3'
(R):5'- GCAGTTTTGAGGCCACTGAG -3'

Sequencing Primer
(F):5'- AACCAGAGATGACTTGTCTGTTTCC -3'
(R):5'- TTTTGAGGCCACTGAGCCTAGC -3'

Posted On

2014-10-30