Mutagenetix > Incidental Mutation

Incidental Mutation 'R7425:Csnk1a1'

576025

Institutional Source

Beutler Lab

Gene Symbol

Csnk1a1

Ensembl Gene

ENSMUSG00000024576

Gene Name

casein kinase 1, alpha 1

Synonyms

4632404G05Rik, CK1a, 2610208K14Rik, 5430427P18Rik

MMRRC Submission

045503-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61688345-61723132 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 61718330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 352 (S352L)

Ref Sequence

ENSEMBL: ENSMUSP00000131687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115246] [ENSMUST00000163205] [ENSMUST00000165123] [ENSMUST00000165721] [ENSMUST00000166990] [ENSMUST00000167187] [ENSMUST00000170862]

AlphaFold

Q8BK63

Predicted Effect

probably benign
Transcript: ENSMUST00000115246

SMART Domains

Protein: ENSMUSP00000110901
Gene: ENSMUSG00000024576

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	17	281	1.7e-15	PFAM
Pfam:Pkinase	17	292	3.7e-39	PFAM
low complexity region	302	320	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163205

SMART Domains

Protein: ENSMUSP00000127144
Gene: ENSMUSG00000024576

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	17	281	2.6e-15	PFAM
Pfam:Pkinase	17	292	5.6e-39	PFAM
low complexity region	302	327	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164253

SMART Domains

Protein: ENSMUSP00000129295
Gene: ENSMUSG00000024576

Domain	Start	End	E-Value	Type
PDB:4JJR\|B	2	114	9e-52	PDB
SCOP:d1csn__	6	114	5e-26	SMART
low complexity region	115	140	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165123

SMART Domains

Protein: ENSMUSP00000128871
Gene: ENSMUSG00000024576

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	17	281	1.3e-15	PFAM
Pfam:Pkinase	17	292	2.9e-39	PFAM
low complexity region	302	320	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165721

SMART Domains

Protein: ENSMUSP00000132083
Gene: ENSMUSG00000024576

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	17	281	1.5e-15	PFAM
Pfam:Pkinase	17	293	3.2e-39	PFAM
low complexity region	302	327	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000166990
AA Change: S352L

SMART Domains

Protein: ENSMUSP00000131687
Gene: ENSMUSG00000024576
AA Change: S352L

Domain	Start	End	E-Value	Type
Pfam:Pkinase	17	263	1e-28	PFAM
Pfam:Pkinase_Tyr	17	281	1.1e-15	PFAM
low complexity region	302	327	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167187

SMART Domains

Protein: ENSMUSP00000127463
Gene: ENSMUSG00000024576

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	17	309	1.5e-12	PFAM
Pfam:Pkinase	17	319	1e-37	PFAM
low complexity region	330	348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170862

SMART Domains

Protein: ENSMUSP00000127265
Gene: ENSMUSG00000024576

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	17	309	1.6e-12	PFAM
Pfam:Pkinase	17	320	1.1e-37	PFAM
low complexity region	330	355	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,456 (GRCm39)	E215G	probably benign	Het
Adam8	T	A	7: 139,572,394 (GRCm39)		probably benign	Het
Ankrd35	A	G	3: 96,592,104 (GRCm39)	S797G	not run	Het
Anxa3	T	A	5: 96,982,680 (GRCm39)	H259Q	probably benign	Het
Ap3d1	T	A	10: 80,557,426 (GRCm39)	Q302L	probably damaging	Het
Atg2a	T	C	19: 6,305,682 (GRCm39)	V1294A	probably benign	Het
Atp13a5	G	A	16: 29,116,278 (GRCm39)	Q613*	probably null	Het
Bltp1	T	A	3: 37,002,490 (GRCm39)	H1478Q	probably benign	Het
Bltp1	A	T	3: 37,037,543 (GRCm39)	H2448L	probably benign	Het
Bmpr2	T	G	1: 59,906,510 (GRCm39)	N534K	probably benign	Het
C1qbp	T	C	11: 70,869,072 (GRCm39)		probably null	Het
C1qbp	G	T	11: 70,869,073 (GRCm39)		probably null	Het
C1ql3	T	G	2: 13,015,229 (GRCm39)	K144Q	possibly damaging	Het
C3	T	C	17: 57,511,039 (GRCm39)	M1656V	possibly damaging	Het
Cand1	A	T	10: 119,052,148 (GRCm39)	Y252N	probably benign	Het
Capn13	T	C	17: 73,625,053 (GRCm39)	I632M	probably benign	Het
Catsperb	A	G	12: 101,557,757 (GRCm39)	E776G	probably damaging	Het
Ccnl1	A	T	3: 65,856,179 (GRCm39)	V242D	probably damaging	Het
Cd68	T	C	11: 69,555,938 (GRCm39)	D200G	probably benign	Het
Cela3a	T	C	4: 137,132,899 (GRCm39)	N118D	probably benign	Het
Celsr2	A	G	3: 108,309,773 (GRCm39)	C1609R	probably damaging	Het
Cep85l	G	C	10: 53,177,666 (GRCm39)	Q458E	probably damaging	Het
Cnga1	T	G	5: 72,766,868 (GRCm39)	E190D	probably benign	Het
Cntnap3	G	A	13: 64,906,066 (GRCm39)	R847C	probably damaging	Het
Cntrob	G	A	11: 69,205,560 (GRCm39)	Q425*	probably null	Het
Commd9	G	A	2: 101,730,245 (GRCm39)	W128*	probably null	Het
Dact2	A	G	17: 14,416,593 (GRCm39)	S536P	probably damaging	Het
Ddx25	A	G	9: 35,465,882 (GRCm39)	I113T	probably benign	Het
Dscam	T	A	16: 96,430,598 (GRCm39)	D1630V	probably damaging	Het
Fndc7	A	C	3: 108,783,975 (GRCm39)	F211L	probably benign	Het
Fryl	T	C	5: 73,262,091 (GRCm39)	T559A	probably damaging	Het
Hpx	C	A	7: 105,241,068 (GRCm39)	D402Y	probably damaging	Het
Ints13	A	G	6: 146,476,198 (GRCm39)		probably null	Het
Ipcef1	T	C	10: 6,906,066 (GRCm39)	K76E	probably damaging	Het
Kcnb2	A	C	1: 15,780,031 (GRCm39)	Q301P	probably damaging	Het
Lamp3	C	T	16: 19,518,362 (GRCm39)		probably null	Het
Lmod2	A	T	6: 24,603,475 (GRCm39)	H150L	probably benign	Het
Lrch3	T	C	16: 32,826,077 (GRCm39)	F718S	probably damaging	Het
Mms22l	T	C	4: 24,596,287 (GRCm39)	V1082A	probably benign	Het
Nbas	G	T	12: 13,519,881 (GRCm39)	V1598L	probably damaging	Het
Nrxn3	C	T	12: 89,479,870 (GRCm39)	R671*	probably null	Het
Or4c110	A	T	2: 88,832,544 (GRCm39)	F29L		Het
Or4c58	A	G	2: 89,674,789 (GRCm39)	L176P	probably damaging	Het
Or52e8	A	T	7: 104,624,268 (GRCm39)	L312*	probably null	Het
Or5a3	A	C	19: 12,400,204 (GRCm39)	H177P	probably damaging	Het
Or6d14	A	T	6: 116,533,398 (GRCm39)	E4V	possibly damaging	Het
Pcdhga6	T	A	18: 37,841,619 (GRCm39)	N446K	probably damaging	Het
Phlpp1	A	T	1: 106,320,303 (GRCm39)	I1433F	probably benign	Het
Pla2g6	G	A	15: 79,192,933 (GRCm39)	R245C	probably damaging	Het
Rgl3	G	A	9: 21,888,123 (GRCm39)	Q464*	probably null	Het
Ryr2	T	C	13: 11,720,530 (GRCm39)	D2706G	probably benign	Het
Sbf2	G	A	7: 109,974,984 (GRCm39)	Q718*	probably null	Het
Sdad1	T	C	5: 92,447,980 (GRCm39)	T252A	probably benign	Het
Sgk1	T	C	10: 21,870,009 (GRCm39)	L16P	probably damaging	Het
Slc38a8	A	G	8: 120,212,327 (GRCm39)	S339P	possibly damaging	Het
Slc44a4	T	C	17: 35,140,667 (GRCm39)	S287P	possibly damaging	Het
Syne1	T	C	10: 5,375,760 (GRCm39)	I111V	probably damaging	Het
Synm	A	C	7: 67,383,194 (GRCm39)	S1489R	probably damaging	Het
Tfb2m	A	G	1: 179,365,269 (GRCm39)	F232L	probably benign	Het
Traf3	A	T	12: 111,227,095 (GRCm39)	K328*	probably null	Het
Trim38	C	A	13: 23,972,365 (GRCm39)	Q229K	probably benign	Het
Vcan	A	G	13: 89,837,951 (GRCm39)	I2531T	probably damaging	Het
Virma	T	A	4: 11,546,211 (GRCm39)	I1683N	possibly damaging	Het
Vmn1r18	A	T	6: 57,367,551 (GRCm39)	M1K	probably null	Het
Vmn2r87	T	C	10: 130,314,761 (GRCm39)	N275S	probably damaging	Het
Vps13a	T	A	19: 16,701,066 (GRCm39)	H701L	probably benign	Het
Vrk3	T	A	7: 44,420,348 (GRCm39)		probably null	Het
Zfp993	T	A	4: 146,742,098 (GRCm39)	S141T	possibly damaging	Het

Other mutations in Csnk1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00939:Csnk1a1	APN	18	61,708,521 (GRCm39)	missense	probably damaging	1.00
IGL00984:Csnk1a1	APN	18	61,708,624 (GRCm39)	splice site	probably benign
IGL03107:Csnk1a1	APN	18	61,701,376 (GRCm39)	missense	probably damaging	1.00
R0513:Csnk1a1	UTSW	18	61,709,618 (GRCm39)	missense	probably damaging	0.99
R1068:Csnk1a1	UTSW	18	61,702,634 (GRCm39)	critical splice donor site	probably null
R1511:Csnk1a1	UTSW	18	61,718,321 (GRCm39)	intron	probably benign
R1855:Csnk1a1	UTSW	18	61,708,498 (GRCm39)	splice site	probably null
R2944:Csnk1a1	UTSW	18	61,711,760 (GRCm39)	missense	probably benign	0.02
R4426:Csnk1a1	UTSW	18	61,718,381 (GRCm39)	intron	probably benign
R4893:Csnk1a1	UTSW	18	61,718,372 (GRCm39)	intron	probably benign
R5000:Csnk1a1	UTSW	18	61,711,840 (GRCm39)	missense	probably damaging	1.00
R5070:Csnk1a1	UTSW	18	61,688,852 (GRCm39)	missense	probably benign	0.02
R5095:Csnk1a1	UTSW	18	61,708,547 (GRCm39)	missense	probably damaging	1.00
R6523:Csnk1a1	UTSW	18	61,688,829 (GRCm39)	missense	probably benign	0.01
R6601:Csnk1a1	UTSW	18	61,711,829 (GRCm39)	missense	probably damaging	1.00
R7617:Csnk1a1	UTSW	18	61,718,387 (GRCm39)	missense	unknown
R8358:Csnk1a1	UTSW	18	61,713,610 (GRCm39)	splice site	probably null
R8379:Csnk1a1	UTSW	18	61,688,925 (GRCm39)	missense	probably benign	0.00
R8411:Csnk1a1	UTSW	18	61,688,888 (GRCm39)	missense	probably benign	0.00
R9571:Csnk1a1	UTSW	18	61,704,969 (GRCm39)	missense	possibly damaging	0.60
X0028:Csnk1a1	UTSW	18	61,711,703 (GRCm39)	splice site	probably null
X0064:Csnk1a1	UTSW	18	61,702,635 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCAGGTGAAACTGTCTCAAGAC -3'
(R):5'- TTTCTTCAGCTAGACAGGCC -3'

Sequencing Primer
(F):5'- ACAGATTTCTTTTTGAGGGGATAAAG -3'
(R):5'- TTCAGCTAGACAGGCCAACGG -3'

Posted On

2019-10-07