Mutagenetix > Incidental Mutation

Incidental Mutation 'R7103:Csnka2ip'

551019

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: 0.145) question?

Stock #

R7103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64477810-64602408 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 64478757 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 415 (V415F)

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: V415F

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,737,354	T294A	probably damaging	Het
Adamtsl2	G	A	2: 27,107,461	V893I	probably damaging	Het
Amph	T	A	13: 19,149,738	D656E	probably benign	Het
Aoah	T	C	13: 21,023,315	F568S	probably damaging	Het
Atr	G	A	9: 95,865,372	G236S	probably damaging	Het
Brd3	T	A	2: 27,450,394	Q601L	probably damaging	Het
Ccar2	T	C	14: 70,141,977	E524G	probably damaging	Het
Cog2	T	C	8: 124,541,114		probably null	Het
Dmp1	A	T	5: 104,211,863	D135V	probably damaging	Het
Dtna	T	C	18: 23,653,379		probably null	Het
Endou	A	G	15: 97,718,929	S238P	probably damaging	Het
Ep400	T	A	5: 110,733,785	E779D	unknown	Het
Fcgbp	A	G	7: 28,084,962	E149G	probably benign	Het
G6pc	C	A	11: 101,374,587		probably null	Het
Gm13119	C	T	4: 144,363,727	R446C	probably benign	Het
Gm9573	C	A	17: 35,621,540	A585S	unknown	Het
Gmeb1	T	C	4: 132,234,868	H160R	probably damaging	Het
Gramd1b	T	C	9: 40,401,606	Y22C	unknown	Het
Hcrtr2	C	T	9: 76,254,511	G199D	probably benign	Het
Hoxb2	T	C	11: 96,353,621	F353L	possibly damaging	Het
Itpr2	C	A	6: 146,325,074	V1391F	probably damaging	Het
Jakmip2	T	A	18: 43,540,583		probably null	Het
Kcnmb4	T	C	10: 116,473,259	Y88C	possibly damaging	Het
Kif1a	T	C	1: 93,077,785	Y89C	probably damaging	Het
Kif23	T	A	9: 61,919,892	K892N	probably damaging	Het
Lama3	T	A	18: 12,531,879	S646T	probably benign	Het
Lig3	T	A	11: 82,797,312	M709K	probably benign	Het
Mgea5	G	A	19: 45,783,166		probably benign	Het
Mindy3	C	A	2: 12,401,074	A137S	possibly damaging	Het
Mis18bp1	T	C	12: 65,149,283	E569G	possibly damaging	Het
Misp	T	A	10: 79,827,165	L472Q	probably damaging	Het
Mrps5	A	T	2: 127,601,410	T303S	probably damaging	Het
Msh3	T	G	13: 92,274,800	I630L	probably benign	Het
Myo16	A	G	8: 10,569,673	Y1408C	unknown	Het
N4bp2	T	C	5: 65,806,846	V746A	probably benign	Het
Olfr1225	A	G	2: 89,170,483	I243T	possibly damaging	Het
Olfr1423	A	G	19: 12,036,388	M118T	probably damaging	Het
Olfr477	A	G	7: 107,990,598	T78A	possibly damaging	Het
Ostf1	C	T	19: 18,596,351	M44I	probably null	Het
Pik3c2b	T	G	1: 133,105,974	L1572R	probably damaging	Het
Pilra	T	C	5: 137,831,226	D192G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,573,631	I3462V	probably benign	Het
Plekhh1	A	G	12: 79,066,655	D619G	probably benign	Het
Ptprb	T	A	10: 116,338,813	Y797N	probably damaging	Het
Rb1	T	C	14: 73,262,644	D521G	probably damaging	Het
Rnf17	T	G	14: 56,471,306	F728V	possibly damaging	Het
Slc16a4	T	C	3: 107,311,471	S463P	probably damaging	Het
Slc4a1	A	T	11: 102,353,867	I634K	probably damaging	Het
Slc4a1ap	T	C	5: 31,543,857	V634A	probably benign	Het
Spam1	A	G	6: 24,800,584	M441V	probably benign	Het
Teddm3	A	C	16: 21,152,979	L280*	probably null	Het
Tmem231	T	C	8: 111,918,885		probably null	Het
Tom1l1	T	C	11: 90,671,081		probably null	Het
Topors	C	T	4: 40,261,706	G526D	probably benign	Het
Trpm6	A	T	19: 18,813,547	I649F	possibly damaging	Het
Ttc16	T	A	2: 32,774,428	M66L	probably benign	Het
Tubgcp6	A	G	15: 89,101,029	F1619L	probably damaging	Het
Vps13d	G	T	4: 145,115,492	A2619E		Het
Vps8	G	A	16: 21,526,441	R838H	probably damaging	Het
Vwde	T	A	6: 13,215,800	M86L	probably benign	Het
Zfp64	A	T	2: 168,926,437	D418E	probably benign	Het
Zfp952	C	T	17: 33,003,632	P362S	possibly damaging	Het
Zglp1	T	C	9: 21,066,072	E149G	probably benign	Het

Other mutations in Csnka2ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02039:Csnka2ip	APN	16	64478594	missense	probably damaging	0.99
IGL02677:Csnka2ip	APN	16	64478312	missense	probably damaging	0.99
G1Funyon:Csnka2ip	UTSW	16	64478991	missense	unknown
R0593:Csnka2ip	UTSW	16	64478612	missense	probably damaging	0.99
R1075:Csnka2ip	UTSW	16	64477947	nonsense	probably null
R1698:Csnka2ip	UTSW	16	64478059	nonsense	probably null
R1815:Csnka2ip	UTSW	16	64478492	missense	probably benign
R6446:Csnka2ip	UTSW	16	64479381	nonsense	probably null
R6709:Csnka2ip	UTSW	16	64478569	missense	possibly damaging	0.92
R6937:Csnka2ip	UTSW	16	64478695	utr 5 prime	probably benign
R6999:Csnka2ip	UTSW	16	64478570	missense	unknown
R7013:Csnka2ip	UTSW	16	64478417	missense	unknown
R7395:Csnka2ip	UTSW	16	64479440	missense
R7816:Csnka2ip	UTSW	16	64479489	unclassified	probably benign
R8301:Csnka2ip	UTSW	16	64478991	missense	unknown
R8416:Csnka2ip	UTSW	16	64479932	missense
R8946:Csnka2ip	UTSW	16	64480304	splice site	probably benign
R9203:Csnka2ip	UTSW	16	64478267	missense	unknown
R9479:Csnka2ip	UTSW	16	64477899	missense	unknown
R9774:Csnka2ip	UTSW	16	64478730	missense	unknown
R9799:Csnka2ip	UTSW	16	64478309	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GACAAAGAGGGTTGCGCATC -3'
(R):5'- CCTCAGGTCAAAGAGTATCAAGTCC -3'

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

Posted On

2019-05-15