Mutagenetix > Incidental Mutation

Incidental Mutation 'R6446:Csnka2ip'

519207

Institutional Source

Beutler Lab

Gene Symbol

Csnka2ip

Ensembl Gene

ENSMUSG00000068167

Gene Name

casein kinase 2, alpha prime interacting protein

Synonyms

Ckt2

MMRRC Submission

044583-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R6446 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64298173-64422694 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 64299744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 207 (Q207*)

Ref Sequence

ENSEMBL: ENSMUSP00000147880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089279] [ENSMUST00000209382]

AlphaFold

Q8CH19

Predicted Effect

probably benign
Transcript: ENSMUST00000089279

SMART Domains

Protein: ENSMUSP00000086692
Gene: ENSMUSG00000068167

Domain	Start	End	E-Value	Type
low complexity region	164	182	N/A	INTRINSIC
low complexity region	186	201	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000209382
AA Change: Q207*

Meta Mutation Damage Score

0.9574

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a3	A	G	16: 30,180,687 (GRCm39)	L114P	probably benign	Het
Blm	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,652 (GRCm39)		probably benign	Het
Catsperg1	T	C	7: 28,905,992 (GRCm39)	I196V	probably benign	Het
Cbx2	T	A	11: 118,918,752 (GRCm39)	S106T	probably benign	Het
Ccar2	T	A	14: 70,380,518 (GRCm39)	E354V	probably benign	Het
Ccr1	A	G	9: 123,764,143 (GRCm39)	I129T	probably damaging	Het
Cdkl2	T	A	5: 92,181,076 (GRCm39)	I188F	probably damaging	Het
Cep350	T	C	1: 155,737,900 (GRCm39)	N2648D	probably benign	Het
Chtf18	A	G	17: 25,940,218 (GRCm39)	S658P	probably benign	Het
Dennd5a	A	G	7: 109,493,873 (GRCm39)	L1253P	probably damaging	Het
Dennd6a	T	A	14: 26,350,689 (GRCm39)	I374K	probably damaging	Het
Dut	T	C	2: 125,092,939 (GRCm39)		probably null	Het
Gcm1	T	C	9: 77,967,065 (GRCm39)	Y95H	probably benign	Het
Grid2	A	T	6: 64,322,577 (GRCm39)	I526F	probably damaging	Het
Hectd4	T	A	5: 121,472,438 (GRCm39)	Y2725N	possibly damaging	Het
Helq	A	T	5: 100,916,250 (GRCm39)	N907K	possibly damaging	Het
Hpse	G	A	5: 100,843,435 (GRCm39)	Q246*	probably null	Het
Iigp1c	A	G	18: 60,378,840 (GRCm39)	D125G	probably damaging	Het
Kcnj15	C	T	16: 95,097,118 (GRCm39)	H247Y	probably benign	Het
Kif27	C	A	13: 58,493,530 (GRCm39)	V138F	probably damaging	Het
Map7	T	G	10: 20,153,979 (GRCm39)	D698E	unknown	Het
Mtmr11	A	T	3: 96,078,504 (GRCm39)	S687C	probably benign	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Nup210l	G	A	3: 90,079,375 (GRCm39)	G953E	probably damaging	Het
Or14c45	T	A	7: 86,176,310 (GRCm39)	I115N	possibly damaging	Het
Piezo2	G	T	18: 63,219,678 (GRCm39)	P792T	probably damaging	Het
Pld3	T	C	7: 27,237,156 (GRCm39)	D241G	probably damaging	Het
Prss35	G	T	9: 86,637,706 (GRCm39)	V159F	probably damaging	Het
Rimbp3	A	T	16: 17,030,793 (GRCm39)	M1406L	probably benign	Het
Serpina3g	T	C	12: 104,205,341 (GRCm39)	F27L	probably damaging	Het
Setd1b	G	A	5: 123,299,862 (GRCm39)		probably benign	Het
Sh3glb1	T	C	3: 144,411,366 (GRCm39)	K13E	probably damaging	Het
Slc29a1	A	T	17: 45,900,171 (GRCm39)	I217N	possibly damaging	Het
Spag17	A	T	3: 100,010,448 (GRCm39)	T1981S	probably benign	Het
Svil	A	C	18: 5,057,323 (GRCm39)	E590D	probably benign	Het
Synm	A	G	7: 67,384,714 (GRCm39)	S541P	probably damaging	Het
Vmn2r108	A	T	17: 20,692,609 (GRCm39)	Y82*	probably null	Het

Other mutations in Csnka2ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02039:Csnka2ip	APN	16	64,298,957 (GRCm39)	missense	probably damaging	0.99
IGL02677:Csnka2ip	APN	16	64,298,675 (GRCm39)	missense	probably damaging	0.99
G1Funyon:Csnka2ip	UTSW	16	64,299,354 (GRCm39)	missense	unknown
R0593:Csnka2ip	UTSW	16	64,298,975 (GRCm39)	missense	probably damaging	0.99
R1075:Csnka2ip	UTSW	16	64,298,310 (GRCm39)	nonsense	probably null
R1698:Csnka2ip	UTSW	16	64,298,422 (GRCm39)	nonsense	probably null
R1815:Csnka2ip	UTSW	16	64,298,855 (GRCm39)	missense	probably benign
R6709:Csnka2ip	UTSW	16	64,298,932 (GRCm39)	missense	possibly damaging	0.92
R6937:Csnka2ip	UTSW	16	64,299,058 (GRCm39)	utr 5 prime	probably benign
R6999:Csnka2ip	UTSW	16	64,298,933 (GRCm39)	missense	unknown
R7013:Csnka2ip	UTSW	16	64,298,780 (GRCm39)	missense	unknown
R7103:Csnka2ip	UTSW	16	64,299,120 (GRCm39)	missense	unknown
R7395:Csnka2ip	UTSW	16	64,299,803 (GRCm39)	missense
R7816:Csnka2ip	UTSW	16	64,299,852 (GRCm39)	unclassified	probably benign
R8301:Csnka2ip	UTSW	16	64,299,354 (GRCm39)	missense	unknown
R8416:Csnka2ip	UTSW	16	64,300,295 (GRCm39)	missense
R8946:Csnka2ip	UTSW	16	64,300,667 (GRCm39)	splice site	probably benign
R9203:Csnka2ip	UTSW	16	64,298,630 (GRCm39)	missense	unknown
R9479:Csnka2ip	UTSW	16	64,298,262 (GRCm39)	missense	unknown
R9774:Csnka2ip	UTSW	16	64,299,093 (GRCm39)	missense	unknown
R9799:Csnka2ip	UTSW	16	64,298,672 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCAGAGGCTTGCTACAGTCG -3'
(R):5'- AGTTCGAGATCAAGGTTACTCC -3'

Sequencing Primer
(F):5'- CTACAGTCGGGTAGTGGTGAATTAC -3'
(R):5'- GACGCAGACATCATCAAGTATTG -3'

Posted On

2018-05-24