Mutagenetix > Incidental Mutation

Incidental Mutation 'R9774:Csnka2ip'

733606

Institutional Source

Beutler Lab

Gene Symbol

Csnka2ip

Ensembl Gene

ENSMUSG00000068167

Gene Name

casein kinase 2, alpha prime interacting protein

Synonyms

Ckt2

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9774 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64298173-64422694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64299093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 424 (I424V)

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

unknown
Transcript: ENSMUST00000209382
AA Change: I424V

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	A	C	7: 30,399,261 (GRCm39)	Q18H	possibly damaging	Het
Adam23	C	T	1: 63,585,583 (GRCm39)	T390I	probably benign	Het
Adh7	T	A	3: 137,929,847 (GRCm39)	C174*	probably null	Het
Brip1	A	G	11: 86,077,838 (GRCm39)	S197P	possibly damaging	Het
Ccdc146	G	T	5: 21,506,247 (GRCm39)	D731E	probably benign	Het
Cfi	T	C	3: 129,668,645 (GRCm39)	V557A	probably damaging	Het
Col4a4	A	T	1: 82,484,665 (GRCm39)		probably null	Het
Cubn	C	T	2: 13,433,530 (GRCm39)	V1127I	probably benign	Het
Ehhadh	T	C	16: 21,581,976 (GRCm39)	T339A	probably benign	Het
Ezh2	T	A	6: 47,519,315 (GRCm39)	I506L	probably benign	Het
Fbxw21	T	C	9: 108,991,057 (GRCm39)	M1V	probably null	Het
Herc1	T	A	9: 66,372,032 (GRCm39)	V567E	probably null	Het
Hrh1	A	T	6: 114,457,241 (GRCm39)	E174V	probably benign	Het
Il12rb1	A	G	8: 71,272,040 (GRCm39)	S585G	possibly damaging	Het
Kcnq4	C	A	4: 120,573,076 (GRCm39)	A242S	probably damaging	Het
Ltbp3	A	G	19: 5,804,014 (GRCm39)	N842S	probably benign	Het
Mbd1	A	G	18: 74,408,274 (GRCm39)	Q309R	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mroh2b	T	C	15: 4,943,613 (GRCm39)	I383T	probably benign	Het
Mrto4	T	C	4: 139,075,287 (GRCm39)	D172G	probably benign	Het
Muc2	T	G	7: 141,285,811 (GRCm39)	S19A	probably benign	Het
Ndufb2	T	C	6: 39,575,301 (GRCm39)		probably null	Het
Npas3	A	T	12: 53,994,108 (GRCm39)	T246S	probably damaging	Het
Or8u8	C	T	2: 86,012,015 (GRCm39)	V147M	possibly damaging	Het
Pappa2	T	A	1: 158,675,920 (GRCm39)	N942I	probably damaging	Het
Pdzph1	A	G	17: 59,281,751 (GRCm39)	V177A	probably benign	Het
Rab5b	A	G	10: 128,522,658 (GRCm39)	V41A	probably benign	Het
Rnf111	T	C	9: 70,334,303 (GRCm39)	D980G	probably damaging	Het
Rreb1	A	G	13: 38,114,185 (GRCm39)	T515A	probably benign	Het
Rsf1	GCGGC	GCGGCGGCGTCGGC	7: 97,229,138 (GRCm39)		probably benign	Het
Serpinb13	T	A	1: 106,923,579 (GRCm39)	F95I	probably benign	Het
Sgsm3	C	T	15: 80,890,673 (GRCm39)	R76C	possibly damaging	Het
Slc1a1	C	T	19: 28,870,283 (GRCm39)	A94V	probably damaging	Het
Slc22a6	T	C	19: 8,603,134 (GRCm39)	V494A	probably benign	Het
Spag9	A	G	11: 94,005,062 (GRCm39)	E1182G	probably damaging	Het
Spata13	T	C	14: 60,944,196 (GRCm39)	S530P	probably benign	Het
Spatc1l	A	G	10: 76,405,168 (GRCm39)		probably null	Het
Spg11	A	G	2: 121,938,965 (GRCm39)	S330P	probably damaging	Het
Stau2	A	T	1: 16,445,010 (GRCm39)	M306K	probably damaging	Het
Tcea2	C	T	2: 181,328,664 (GRCm39)	T239I	probably damaging	Het
Tlcd2	A	G	11: 75,359,131 (GRCm39)	D34G	probably damaging	Het
Tmem132a	C	T	19: 10,842,904 (GRCm39)	W190*	probably null	Het
Top3a	C	A	11: 60,638,998 (GRCm39)	V551L	probably damaging	Het
Trpm1	G	A	7: 63,898,041 (GRCm39)	E1225K	possibly damaging	Het
Tti2	A	G	8: 31,645,660 (GRCm39)	H350R	probably damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Tyw3	T	C	3: 154,302,584 (GRCm39)	D27G	probably damaging	Het
Usp36	G	A	11: 118,153,875 (GRCm39)	A1012V	probably damaging	Het
Vmn2r14	G	A	5: 109,369,126 (GRCm39)	T149I	probably benign	Het
Vps13c	T	A	9: 67,791,873 (GRCm39)	S380T	possibly damaging	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
R6446:Csnka2ip	UTSW	16	64,299,744 (GRCm39)	nonsense	probably null
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
R9799:Csnka2ip	UTSW	16	64,298,672 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGCGCATCGAGGATCTCTC -3'
(R):5'- AAATCCCTCAGGTCAAAGAGTATC -3'

Sequencing Primer
(F):5'- ATCGAGGATCTCTCTTTCCTGAAAG -3'
(R):5'- GAGTATCAAGTCCTAAGCCCTGTATC -3'

Posted On

2022-11-14