Mutagenetix > Incidental Mutations

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

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.553) question?

Stock #

R6282 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132112237-132139684 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132120020 bp

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]

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: 30,800,769	L185Q	possibly damaging	Het
Abca6	A	T	11: 110,208,824	C966S	probably damaging	Het
Atp13a4	A	T	16: 29,434,004	I708N	probably benign	Het
Axin1	C	G	17: 26,143,037	D118E	probably damaging	Het
Bace2	A	T	16: 97,415,097	I297F	probably damaging	Het
C87499	T	C	4: 88,630,054	E38G	probably damaging	Het
Ccdc30	T	A	4: 119,324,017	D649V	probably damaging	Het
Cd180	G	A	13: 102,693,757	A20T	possibly damaging	Het
Cuedc1	A	G	11: 88,183,402	N254S	probably damaging	Het
Dnah7a	T	C	1: 53,503,601	H2470R	probably damaging	Het
Drap1	G	A	19: 5,424,436		probably null	Het
Fam196b	A	G	11: 34,402,819	D287G	possibly damaging	Het
Fbxo5	T	A	10: 5,801,216	K257M	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm12790	A	G	4: 101,967,516	V185A	possibly damaging	Het
Gm7361	A	G	5: 26,260,413	N136S	probably benign	Het
Il10ra	C	A	9: 45,260,405	C255F	probably damaging	Het
Itgam	A	T	7: 128,084,942	T340S	probably benign	Het
Ktn1	A	T	14: 47,663,971	N62I	probably damaging	Het
Ldb2	A	G	5: 44,532,665	L204P	probably damaging	Het
Map2k4	T	C	11: 65,707,016	T90A	possibly damaging	Het
Mettl3	A	T	14: 52,297,971	D287E	probably benign	Het
Mier2	A	G	10: 79,544,742	F278S	probably damaging	Het
Mis18bp1	A	G	12: 65,149,163	M609T	probably benign	Het
Myo1d	A	T	11: 80,557,512	V929D	probably damaging	Het
Naprt	A	T	15: 75,891,979	M364K	probably benign	Het
Nod2	T	A	8: 88,670,460	C833S	probably benign	Het
Nrip3	C	T	7: 109,763,479		probably null	Het
Ntsr2	A	G	12: 16,658,425	Y320C	probably damaging	Het
Olfr1178	C	A	2: 88,391,533	C95*	probably null	Het
Olfr555	G	A	7: 102,659,647	M275I	probably benign	Het
Olfr761	G	A	17: 37,952,424	S200F	possibly damaging	Het
Osbpl3	A	T	6: 50,348,083		probably null	Het
Pcdhb3	C	T	18: 37,301,646	R222C	probably damaging	Het
Pik3cd	G	T	4: 149,659,743	R184S	probably benign	Het
Rad50	A	T	11: 53,669,770		probably null	Het
Rad51ap2	A	T	12: 11,457,559	H494L	probably benign	Het
Rbm25	T	C	12: 83,676,089	M762T	probably damaging	Het
Sars	G	T	3: 108,428,274	S338*	probably null	Het
Usp35	T	C	7: 97,325,948	E6G	probably damaging	Het
Vash2	T	C	1: 190,960,225	Y251C	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr20	T	A	12: 110,797,009		probably benign	Het
Wfdc1	G	A	8: 119,679,407	C87Y	probably damaging	Het
Zfp985	T	A	4: 147,583,348	H224Q	probably benign	Het

Other mutations in Cdk18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Cdk18	APN	1	132115488	missense	probably benign	0.36
IGL00929:Cdk18	APN	1	132118519	critical splice donor site	probably null
R0184:Cdk18	UTSW	1	132118538	missense	probably benign	0.00
R0606:Cdk18	UTSW	1	132117617	unclassified	probably benign
R0624:Cdk18	UTSW	1	132118872	missense	probably damaging	1.00
R1295:Cdk18	UTSW	1	132119960	unclassified	probably benign
R1296:Cdk18	UTSW	1	132119960	unclassified	probably benign
R1298:Cdk18	UTSW	1	132122451	start gained	probably benign
R1611:Cdk18	UTSW	1	132122375	missense	probably damaging	1.00
R1959:Cdk18	UTSW	1	132117821	missense	possibly damaging	0.95
R2184:Cdk18	UTSW	1	132115952	missense	probably damaging	1.00
R2279:Cdk18	UTSW	1	132115952	missense	probably damaging	1.00
R2391:Cdk18	UTSW	1	132115474	missense	probably benign
R4601:Cdk18	UTSW	1	132116919	missense	possibly damaging	0.95
R5001:Cdk18	UTSW	1	132118849	critical splice donor site	probably null
R5208:Cdk18	UTSW	1	132117480	critical splice donor site	probably null
R5818:Cdk18	UTSW	1	132119098	critical splice donor site	probably null
R6546:Cdk18	UTSW	1	132122350	missense	probably damaging	0.99
R6644:Cdk18	UTSW	1	132122069	nonsense	probably null
R6892:Cdk18	UTSW	1	132122110	missense	probably benign	0.01
R6965:Cdk18	UTSW	1	132117581	missense	probably damaging	0.98
R7698:Cdk18	UTSW	1	132122378	missense	probably damaging	1.00
R7828:Cdk18	UTSW	1	132116904	missense	possibly damaging	0.69

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