Mutagenetix > Incidental Mutation

Incidental Mutation 'R6282:Cdk18'

507982

Institutional Source

Beutler Lab

Gene Symbol

Cdk18

Ensembl Gene

ENSMUSG00000026437

Gene Name

cyclin dependent kinase 18

Synonyms

Pctk3

MMRRC Submission

044452-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.281) question?

Stock #

R6282 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132041285-132067433 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132047758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 112 (D112G)

Ref Sequence

ENSEMBL: ENSMUSP00000107981 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027697] [ENSMUST00000112362] [ENSMUST00000185601]

AlphaFold

Q04899

Predicted Effect

probably damaging
Transcript: ENSMUST00000027697
AA Change: D112G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027697
Gene: ENSMUSG00000026437
AA Change: D112G

Domain	Start	End	E-Value	Type
S_TKc	121	402	1.13e-95	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112362
AA Change: D112G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107981
Gene: ENSMUSG00000026437
AA Change: D112G

Domain	Start	End	E-Value	Type
S_TKc	121	402	1.13e-95	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185601

SMART Domains

Protein: ENSMUSP00000140034
Gene: ENSMUSG00000026437

Domain	Start	End	E-Value	Type
Blast:S_TKc	1	34	6e-15	BLAST
PDB:3MTL\|A	1	34	2e-8	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189733

Meta Mutation Damage Score

0.1304

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,690,781 (GRCm39)	L185Q	possibly damaging	Het
Abca6	A	T	11: 110,099,650 (GRCm39)	C966S	probably damaging	Het
Atp13a4	A	T	16: 29,252,822 (GRCm39)	I708N	probably benign	Het
Axin1	C	G	17: 26,362,011 (GRCm39)	D118E	probably damaging	Het
Bace2	A	T	16: 97,216,297 (GRCm39)	I297F	probably damaging	Het
Ccdc30	T	A	4: 119,181,214 (GRCm39)	D649V	probably damaging	Het
Cd180	G	A	13: 102,830,265 (GRCm39)	A20T	possibly damaging	Het
Cuedc1	A	G	11: 88,074,228 (GRCm39)	N254S	probably damaging	Het
Dnah7a	T	C	1: 53,542,760 (GRCm39)	H2470R	probably damaging	Het
Drap1	G	A	19: 5,474,464 (GRCm39)		probably null	Het
Fbxo5	T	A	10: 5,751,216 (GRCm39)	K257M	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm12790	A	G	4: 101,824,713 (GRCm39)	V185A	possibly damaging	Het
Gm7361	A	G	5: 26,465,411 (GRCm39)	N136S	probably benign	Het
Il10ra	C	A	9: 45,171,703 (GRCm39)	C255F	probably damaging	Het
Insyn2b	A	G	11: 34,352,819 (GRCm39)	D287G	possibly damaging	Het
Itgam	A	T	7: 127,684,114 (GRCm39)	T340S	probably benign	Het
Ktn1	A	T	14: 47,901,428 (GRCm39)	N62I	probably damaging	Het
Ldb2	A	G	5: 44,690,007 (GRCm39)	L204P	probably damaging	Het
Map2k4	T	C	11: 65,597,842 (GRCm39)	T90A	possibly damaging	Het
Mettl3	A	T	14: 52,535,428 (GRCm39)	D287E	probably benign	Het
Mier2	A	G	10: 79,380,576 (GRCm39)	F278S	probably damaging	Het
Mis18bp1	A	G	12: 65,195,937 (GRCm39)	M609T	probably benign	Het
Myo1d	A	T	11: 80,448,338 (GRCm39)	V929D	probably damaging	Het
Naprt	A	T	15: 75,763,828 (GRCm39)	M364K	probably benign	Het
Nod2	T	A	8: 89,397,088 (GRCm39)	C833S	probably benign	Het
Nrip3	C	T	7: 109,362,686 (GRCm39)		probably null	Het
Ntsr2	A	G	12: 16,708,426 (GRCm39)	Y320C	probably damaging	Het
Or14j8	G	A	17: 38,263,315 (GRCm39)	S200F	possibly damaging	Het
Or4p7	C	A	2: 88,221,877 (GRCm39)	C95*	probably null	Het
Or51h1	G	A	7: 102,308,854 (GRCm39)	M275I	probably benign	Het
Osbpl3	A	T	6: 50,325,063 (GRCm39)		probably null	Het
Pcdhb3	C	T	18: 37,434,699 (GRCm39)	R222C	probably damaging	Het
Pik3cd	G	T	4: 149,744,200 (GRCm39)	R184S	probably benign	Het
Pramel32	T	C	4: 88,548,291 (GRCm39)	E38G	probably damaging	Het
Rad50	A	T	11: 53,560,597 (GRCm39)		probably null	Het
Rad51ap2	A	T	12: 11,507,560 (GRCm39)	H494L	probably benign	Het
Rbm25	T	C	12: 83,722,863 (GRCm39)	M762T	probably damaging	Het
Sars1	G	T	3: 108,335,590 (GRCm39)	S338*	probably null	Het
Usp35	T	C	7: 96,975,155 (GRCm39)	E6G	probably damaging	Het
Vash2	T	C	1: 190,692,422 (GRCm39)	Y251C	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdr20	T	A	12: 110,763,443 (GRCm39)		probably benign	Het
Wfdc1	G	A	8: 120,406,146 (GRCm39)	C87Y	probably damaging	Het
Zfp985	T	A	4: 147,667,805 (GRCm39)	H224Q	probably benign	Het

Other mutations in Cdk18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Cdk18	APN	1	132,043,226 (GRCm39)	missense	probably benign	0.36
IGL00929:Cdk18	APN	1	132,046,257 (GRCm39)	critical splice donor site	probably null
R0184:Cdk18	UTSW	1	132,046,276 (GRCm39)	missense	probably benign	0.00
R0606:Cdk18	UTSW	1	132,045,355 (GRCm39)	unclassified	probably benign
R0624:Cdk18	UTSW	1	132,046,610 (GRCm39)	missense	probably damaging	1.00
R1295:Cdk18	UTSW	1	132,047,698 (GRCm39)	unclassified	probably benign
R1296:Cdk18	UTSW	1	132,047,698 (GRCm39)	unclassified	probably benign
R1298:Cdk18	UTSW	1	132,050,189 (GRCm39)	start gained	probably benign
R1611:Cdk18	UTSW	1	132,050,113 (GRCm39)	missense	probably damaging	1.00
R1959:Cdk18	UTSW	1	132,045,559 (GRCm39)	missense	possibly damaging	0.95
R2184:Cdk18	UTSW	1	132,043,690 (GRCm39)	missense	probably damaging	1.00
R2279:Cdk18	UTSW	1	132,043,690 (GRCm39)	missense	probably damaging	1.00
R2391:Cdk18	UTSW	1	132,043,212 (GRCm39)	missense	probably benign
R4601:Cdk18	UTSW	1	132,044,657 (GRCm39)	missense	possibly damaging	0.95
R5001:Cdk18	UTSW	1	132,046,587 (GRCm39)	critical splice donor site	probably null
R5208:Cdk18	UTSW	1	132,045,218 (GRCm39)	critical splice donor site	probably null
R5818:Cdk18	UTSW	1	132,046,836 (GRCm39)	critical splice donor site	probably null
R6546:Cdk18	UTSW	1	132,050,088 (GRCm39)	missense	probably damaging	0.99
R6644:Cdk18	UTSW	1	132,049,807 (GRCm39)	nonsense	probably null
R6892:Cdk18	UTSW	1	132,049,848 (GRCm39)	missense	probably benign	0.01
R6965:Cdk18	UTSW	1	132,045,319 (GRCm39)	missense	probably damaging	0.98
R7698:Cdk18	UTSW	1	132,050,116 (GRCm39)	missense	probably damaging	1.00
R7828:Cdk18	UTSW	1	132,044,642 (GRCm39)	missense	possibly damaging	0.69
R9386:Cdk18	UTSW	1	132,044,183 (GRCm39)	critical splice donor site	probably null
R9488:Cdk18	UTSW	1	132,049,260 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTTCAAGAGCAGGGCATAGG -3'
(R):5'- GGATCTTCAGCATTCACAAGGATG -3'

Sequencing Primer
(F):5'- TAGGGCATCTAACACCAGCTCTG -3'
(R):5'- TTCAGCATTCACAAGGATGAAGGG -3'

Posted On

2018-03-15