Mutagenetix > Incidental Mutation

Incidental Mutation 'R5517:Cdk10'

431354

Institutional Source

Beutler Lab

Gene Symbol

Cdk10

Ensembl Gene

ENSMUSG00000033862

Gene Name

cyclin dependent kinase 10

Synonyms

MMRRC Submission

043076-MU

Accession Numbers

Essential gene?

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

Stock #

R5517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123951581-123958989 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 123957326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148435 (fasta)

Gene Model

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

AlphaFold

Q3UMM4

Predicted Effect

probably null
Transcript: ENSMUST00000036880

SMART Domains

Protein: ENSMUSP00000045527
Gene: ENSMUSG00000033862

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

Predicted Effect

probably null
Transcript: ENSMUST00000036880

SMART Domains

Protein: ENSMUSP00000045527
Gene: ENSMUSG00000033862

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 null
Transcript: ENSMUST00000213005

Predicted Effect

probably null
Transcript: ENSMUST00000213005

Predicted Effect

probably null
Transcript: ENSMUST00000213005

Predicted Effect

probably benign
Transcript: ENSMUST00000212193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212532

Predicted Effect

probably benign
Transcript: ENSMUST00000212361

Predicted Effect

probably benign
Transcript: ENSMUST00000212818

Predicted Effect

probably benign
Transcript: ENSMUST00000212028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212904

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212021

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212749

Meta Mutation Damage Score

0.9057

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.5%

Validation Efficiency

99% (67/68)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	T	17: 36,269,233 (GRCm39)	R675K	possibly damaging	Het
Aire	A	T	10: 77,875,525 (GRCm39)	S282T	probably benign	Het
Ak9	A	G	10: 41,216,887 (GRCm39)	E283G	probably benign	Het
Akap9	T	A	5: 4,051,665 (GRCm39)	D1477E	possibly damaging	Het
Ap2a1	T	C	7: 44,556,405 (GRCm39)	D273G	possibly damaging	Het
Apob	T	C	12: 8,040,906 (GRCm39)	L664P	probably damaging	Het
Arhgap35	A	T	7: 16,297,414 (GRCm39)	F550L	probably damaging	Het
Armc2	T	C	10: 41,839,846 (GRCm39)	E373G	probably benign	Het
Atp8b2	C	A	3: 89,853,338 (GRCm39)	A726S	probably benign	Het
C030048H21Rik	T	A	2: 26,145,899 (GRCm39)	Q87L	probably damaging	Het
Cd244a	T	A	1: 171,405,542 (GRCm39)		probably benign	Het
Cenpe	C	A	3: 134,929,026 (GRCm39)	P310Q	probably damaging	Het
Chuk	T	A	19: 44,085,972 (GRCm39)		probably null	Het
Crebl2	T	C	6: 134,828,139 (GRCm39)	S104P	probably benign	Het
Ddo	A	G	10: 40,523,726 (GRCm39)	K239E	probably benign	Het
Defb5	A	G	8: 19,300,868 (GRCm39)		probably null	Het
Dhx35	T	A	2: 158,676,832 (GRCm39)	M422K	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gatm	G	A	2: 122,426,024 (GRCm39)	T409I	probably damaging	Het
Gdpd1	A	T	11: 86,950,332 (GRCm39)	D80E	probably damaging	Het
Gspt1	C	A	16: 11,071,843 (GRCm39)	G7C	unknown	Het
Hells	G	A	19: 38,943,244 (GRCm39)	S516N	probably benign	Het
Ints1	A	G	5: 139,738,542 (GRCm39)	S2069P	possibly damaging	Het
Kank4	G	A	4: 98,663,118 (GRCm39)	T690M	probably damaging	Het
Kcnq4	T	C	4: 120,573,006 (GRCm39)	N265S	possibly damaging	Het
Kif5b	C	A	18: 6,220,954 (GRCm39)	A385S	probably benign	Het
Map2	T	C	1: 66,454,415 (GRCm39)	S1102P	probably benign	Het
Mcm7	A	G	5: 138,163,133 (GRCm39)	S340P	possibly damaging	Het
Mcrs1	C	T	15: 99,144,876 (GRCm39)	R246H	possibly damaging	Het
Myo16	T	A	8: 10,610,226 (GRCm39)	M1189K	probably benign	Het
Or4d2	A	T	11: 87,783,892 (GRCm39)	I286N	probably damaging	Het
Or4k52	G	T	2: 111,610,804 (GRCm39)	M46I	probably benign	Het
Or7g29	G	A	9: 19,287,063 (GRCm39)	T38I	probably damaging	Het
Otog	A	G	7: 45,923,995 (GRCm39)	N1118S	probably damaging	Het
Pakap	T	C	4: 57,855,987 (GRCm39)	Y439H	probably damaging	Het
Pcdhb7	G	T	18: 37,474,846 (GRCm39)		probably benign	Het
Picalm	C	T	7: 89,819,806 (GRCm39)	T189I	possibly damaging	Het
Ptx4	T	A	17: 25,343,760 (GRCm39)	S337T	possibly damaging	Het
Rad51ap2	C	T	12: 11,508,313 (GRCm39)	S745L	probably benign	Het
Rspry1	G	A	8: 95,363,388 (GRCm39)		probably null	Het
Scn5a	T	G	9: 119,324,779 (GRCm39)	I1350L	probably damaging	Het
Sgk2	T	C	2: 162,839,755 (GRCm39)	L121P	probably damaging	Het
Slc17a1	A	T	13: 24,056,575 (GRCm39)		probably benign	Het
Slc6a12	A	G	6: 121,331,298 (GRCm39)	N183S	probably benign	Het
Smg9	C	A	7: 24,114,338 (GRCm39)		probably benign	Het
Spred1	G	A	2: 117,008,195 (GRCm39)	S367N	probably damaging	Het
Srpra	T	C	9: 35,122,646 (GRCm39)	V21A	probably benign	Het
Taar2	A	T	10: 23,816,627 (GRCm39)	I56F	possibly damaging	Het
Taf1a	T	G	1: 183,177,323 (GRCm39)	L67R	probably damaging	Het
Tbc1d10b	C	A	7: 126,797,779 (GRCm39)	R787S	possibly damaging	Het
Topbp1	T	A	9: 103,213,313 (GRCm39)	N1044K	probably benign	Het
Usp24	A	G	4: 106,232,871 (GRCm39)	T886A	probably benign	Het
Vmn2r26	A	G	6: 124,027,676 (GRCm39)	D472G	probably damaging	Het
Zyg11a	T	C	4: 108,061,943 (GRCm39)	N286S	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
R5453:Cdk10	UTSW	8	123,953,131 (GRCm39)	missense	probably benign	0.42
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'- TGACTGCAGCATCCAAGGAG -3'
(R):5'- GTTTCCTCAAGCTGTACTGGC -3'

Sequencing Primer
(F):5'- CATCCAAGGAGGGGGAGCAC -3'
(R):5'- GCAGCTTGGAGAAACCCTG -3'

Posted On

2016-10-05