Mutagenetix > Incidental Mutations

Incidental Mutation 'R6698:Cdk17'

528655

Institutional Source

Beutler Lab

Gene Symbol

Cdk17

Ensembl Gene

ENSMUSG00000020015

Gene Name

cyclin-dependent kinase 17

Synonyms

Pctk2, 6430598J10Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.282) question?

Stock #

R6698 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93160875-93267071 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93228678 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 270 (Y270H)

Ref Sequence

ENSEMBL: ENSMUSP00000150873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069965] [ENSMUST00000215286]

Predicted Effect

probably damaging
Transcript: ENSMUST00000069965
AA Change: Y303H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070355
Gene: ENSMUSG00000020015
AA Change: Y303H

Domain	Start	End	E-Value	Type
S_TKc	192	473	4.67e-97	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000215286
AA Change: Y270H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215495

Meta Mutation Damage Score

0.7900

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

95% (40/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It has similarity to a rat protein that is thought to play a role in terminally differentiated neurons. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brca2	T	C	5: 150,532,394	V200A	probably damaging	Het
Camk2g	T	A	14: 20,742,708	K393*	probably null	Het
Catsperb	T	A	12: 101,509,207	F337I	probably damaging	Het
Col5a3	C	T	9: 20,779,033	G1162R	probably damaging	Het
Col6a5	T	A	9: 105,934,175	N715I	unknown	Het
Fam198b	A	G	3: 79,936,595	I10V	probably damaging	Het
Fancg	A	G	4: 43,007,034	S248P	probably benign	Het
Flvcr1	T	C	1: 191,025,732	Y79C	probably damaging	Het
Gabrp	A	G	11: 33,557,017	S198P	probably damaging	Het
Glp1r	A	G	17: 30,936,401	Y454C	probably damaging	Het
Gpr158	A	C	2: 21,827,110	D1007A	probably damaging	Het
Gsdmc3	A	G	15: 63,860,271	F302S	possibly damaging	Het
Gsdmc4	T	A	15: 63,893,764	D312V	probably benign	Het
Itga5	T	C	15: 103,351,381	Y663C	probably benign	Het
Kif1b	A	T	4: 149,274,956	M108K	probably damaging	Het
Klf11	T	G	12: 24,653,619	S18A	probably damaging	Het
Lmtk2	T	C	5: 144,174,919	V819A	probably benign	Het
Lrba	A	G	3: 86,304,425	M451V	probably damaging	Het
Lrp1b	T	C	2: 41,302,946	D488G	probably damaging	Het
Mark4	T	C	7: 19,429,437	N589S	probably benign	Het
Mis12	T	C	11: 71,025,186	F15S	probably damaging	Het
Nif3l1	A	G	1: 58,450,489	D179G	probably benign	Het
Nlrx1	A	G	9: 44,265,807	W3R	probably damaging	Het
Nup210l	G	A	3: 90,182,508	S1194N	possibly damaging	Het
Olfr1165-ps	A	G	2: 88,101,217	F257L	unknown	Het
Olfr451-ps1	A	T	6: 42,801,202	T154S	probably benign	Het
Park2	A	G	17: 11,067,296		probably null	Het
Pnkd	T	A	1: 74,350,677	L320Q	probably damaging	Het
Rcc2	G	A	4: 140,702,275	C40Y	probably benign	Homo
Rilpl2	C	T	5: 124,469,780	E126K	probably damaging	Het
Rpn2	T	C	2: 157,297,410	I208T	possibly damaging	Het
Skint4	G	T	4: 112,119,899	C170F	probably damaging	Het
Synj1	C	G	16: 90,960,452	V877L	probably damaging	Het
Tcp11	A	T	17: 28,071,830	I106N	possibly damaging	Het
Tg	A	G	15: 66,839,362	Y991C	probably damaging	Het
Trib3	A	G	2: 152,338,419	S285P	probably damaging	Het
Wdr49	A	T	3: 75,429,366	W345R	probably benign	Het
Wnt5a	A	G	14: 28,518,463	Y190C	possibly damaging	Het
Xpo1	A	G	11: 23,294,040	E955G	probably benign	Het

Other mutations in Cdk17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Cdk17	APN	10	93226771	missense	probably damaging	1.00
IGL00781:Cdk17	APN	10	93232416	missense	probably damaging	1.00
IGL01622:Cdk17	APN	10	93238962	unclassified	probably benign
IGL01623:Cdk17	APN	10	93238962	unclassified	probably benign
IGL01732:Cdk17	APN	10	93218045	missense	probably benign	0.01
IGL01768:Cdk17	APN	10	93208261	missense	probably damaging	0.99
IGL02942:Cdk17	APN	10	93238968	missense	probably benign
IGL03308:Cdk17	APN	10	93221644	critical splice donor site	probably null
R0039:Cdk17	UTSW	10	93226778	splice site	probably benign
R0398:Cdk17	UTSW	10	93237840	missense	probably benign	0.01
R0432:Cdk17	UTSW	10	93237790	unclassified	probably benign
R0609:Cdk17	UTSW	10	93216472	missense	probably benign
R0781:Cdk17	UTSW	10	93239033	nonsense	probably null
R1110:Cdk17	UTSW	10	93239033	nonsense	probably null
R1604:Cdk17	UTSW	10	93232498	missense	probably damaging	1.00
R1674:Cdk17	UTSW	10	93221630	missense	probably benign	0.21
R1758:Cdk17	UTSW	10	93208250	missense	probably damaging	1.00
R1797:Cdk17	UTSW	10	93208252	missense	possibly damaging	0.76
R1864:Cdk17	UTSW	10	93226105	missense	probably damaging	1.00
R1924:Cdk17	UTSW	10	93226117	missense	probably damaging	1.00
R1929:Cdk17	UTSW	10	93228678	missense	probably damaging	1.00
R2143:Cdk17	UTSW	10	93218019	missense	probably damaging	1.00
R2207:Cdk17	UTSW	10	93228762	missense	probably damaging	1.00
R2261:Cdk17	UTSW	10	93211958	missense	possibly damaging	0.90
R2262:Cdk17	UTSW	10	93211958	missense	possibly damaging	0.90
R3737:Cdk17	UTSW	10	93221644	critical splice donor site	probably null
R3883:Cdk17	UTSW	10	93212077	critical splice donor site	probably null
R4436:Cdk17	UTSW	10	93211896	splice site	probably null
R5372:Cdk17	UTSW	10	93226039	missense	probably benign	0.03
R5444:Cdk17	UTSW	10	93217961	splice site	probably null
R5488:Cdk17	UTSW	10	93232412	missense	probably damaging	1.00
R5489:Cdk17	UTSW	10	93232412	missense	probably damaging	1.00
R5815:Cdk17	UTSW	10	93228697	missense	probably damaging	1.00
R6164:Cdk17	UTSW	10	93235469	missense	probably benign	0.26
R6209:Cdk17	UTSW	10	93208231	missense	probably benign	0.05
R6384:Cdk17	UTSW	10	93211965	missense	probably damaging	0.99
R6627:Cdk17	UTSW	10	93232412	missense	probably damaging	1.00
R7164:Cdk17	UTSW	10	93232481	missense	probably benign	0.07
R8096:Cdk17	UTSW	10	93216367	missense	probably damaging	0.98
R8118:Cdk17	UTSW	10	93216390	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- TCCAACCAATGAACTGCTGTTATTC -3'
(R):5'- TGACGACACTCTGTGACAAC -3'

Sequencing Primer
(F):5'- CCTGGTTCTCATTGGGTTAAAAAC -3'
(R):5'- ACACTCTGTGACAACGGTGGTC -3'

Posted On

2018-07-24