Mutagenetix > Incidental Mutation

Incidental Mutation 'R8358:Csnk1a1'

656559

Institutional Source

Beutler Lab

Gene Symbol

Csnk1a1

Ensembl Gene

ENSMUSG00000024576

Gene Name

casein kinase 1, alpha 1

Synonyms

4632404G05Rik, CK1a, 2610208K14Rik, 5430427P18Rik

MMRRC Submission

067871-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8358 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61688345-61723132 bp(+) (GRCm39)

Type of Mutation

splice site (88 bp from exon)

DNA Base Change (assembly)

A to G at 61713610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127463 (fasta)

Gene Model

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

AlphaFold

Q8BK63

Predicted Effect

probably null
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 null
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

probably null
Transcript: ENSMUST00000166990

SMART Domains

Protein: ENSMUSP00000131687
Gene: ENSMUSG00000024576

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 null
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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (49/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	C	16: 20,367,796 (GRCm39)	S52P	possibly damaging	Het
Adamts19	G	T	18: 59,181,881 (GRCm39)	G1107C	probably damaging	Het
Afap1	A	T	5: 36,131,830 (GRCm39)	T386S	probably benign	Het
Alg12	T	C	15: 88,695,503 (GRCm39)	Y331C	probably null	Het
Aste1	T	A	9: 105,274,255 (GRCm39)	I165N	probably damaging	Het
Atp13a5	A	G	16: 29,167,805 (GRCm39)	I118T	probably damaging	Het
AW551984	A	G	9: 39,510,651 (GRCm39)	V228A	probably damaging	Het
Cachd1	A	G	4: 100,816,668 (GRCm39)	Y357C	possibly damaging	Het
Cacul1	T	A	19: 60,551,673 (GRCm39)	H183L	possibly damaging	Het
Casp16	T	A	17: 23,772,348 (GRCm39)	I39F	probably damaging	Het
Chd7	G	T	4: 8,839,529 (GRCm39)	C1355F	probably damaging	Het
Ctif	G	A	18: 75,698,115 (GRCm39)	H182Y	possibly damaging	Het
Cubn	C	T	2: 13,329,971 (GRCm39)	V2637I	probably benign	Het
Dlx1	T	A	2: 71,360,652 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,376,457 (GRCm39)	N1414S	possibly damaging	Het
Erich6	A	T	3: 58,544,449 (GRCm39)	L46*	probably null	Het
Fcho2	G	A	13: 98,862,282 (GRCm39)	R804*	probably null	Het
Gas7	T	A	11: 67,543,734 (GRCm39)	I114N	probably benign	Het
Gpr137b	T	C	13: 13,533,929 (GRCm39)	T376A	probably benign	Het
H2-T24	T	C	17: 36,328,229 (GRCm39)	M85V	probably benign	Het
Klk1b16	T	A	7: 43,790,185 (GRCm39)	C152S	probably damaging	Het
Lrrc31	G	A	3: 30,753,932 (GRCm39)		probably benign	Het
Magt1	C	T	X: 105,040,501 (GRCm39)	A100T	probably benign	Het
Mki67	T	C	7: 135,301,855 (GRCm39)	K1060E	possibly damaging	Het
Nif3l1	A	T	1: 58,491,288 (GRCm39)	T213S	probably benign	Het
Oasl1	T	A	5: 115,075,465 (GRCm39)	F508L	probably benign	Het
Or10ak8	A	T	4: 118,773,723 (GRCm39)	*314R	probably null	Het
Or2a25	T	C	6: 42,888,976 (GRCm39)	V173A	possibly damaging	Het
Or4a80	C	T	2: 89,582,423 (GRCm39)	V250I	probably benign	Het
Or5b122	T	C	19: 13,562,764 (GRCm39)	L32P	probably damaging	Het
Psg23	T	C	7: 18,348,522 (GRCm39)	D95G	probably benign	Het
Ptprr	T	C	10: 115,884,180 (GRCm39)	I79T	probably benign	Het
Resf1	C	T	6: 149,228,076 (GRCm39)	T374I	probably damaging	Het
Rhbg	T	A	3: 88,152,525 (GRCm39)	N340Y	probably damaging	Het
Sash1	C	A	10: 8,605,745 (GRCm39)	V882L	probably benign	Het
Sharpin	C	T	15: 76,232,197 (GRCm39)	V220I	probably damaging	Het
Slc22a22	T	A	15: 57,108,243 (GRCm39)	D524V	probably damaging	Het
Slc43a3	T	C	2: 84,780,860 (GRCm39)	Y362H	probably benign	Het
Slc4a3	T	A	1: 75,530,359 (GRCm39)	D687E	probably damaging	Het
Slco1a5	A	G	6: 142,208,411 (GRCm39)	S127P	probably benign	Het
Spg11	T	C	2: 121,910,739 (GRCm39)	I1213V	possibly damaging	Het
Synj2	T	A	17: 6,074,080 (GRCm39)	Y813*	probably null	Het
Tbc1d10a	T	C	11: 4,155,837 (GRCm39)	M131T	probably damaging	Het
Tnfrsf19	C	A	14: 61,208,634 (GRCm39)	V296F	probably benign	Het
Trim45	T	C	3: 100,834,634 (GRCm39)	V439A	probably damaging	Het
Trim54	A	G	5: 31,294,338 (GRCm39)	T325A	probably benign	Het
Usp40	T	C	1: 87,908,770 (GRCm39)	E577G	possibly damaging	Het
Uts2r	T	A	11: 121,051,345 (GRCm39)	Y70N	probably damaging	Het
Vmn1r72	T	G	7: 11,404,310 (GRCm39)	D46A	probably damaging	Het
Zfc3h1	T	C	10: 115,240,198 (GRCm39)	V577A	probably benign	Het
Zfp987	T	G	4: 146,061,343 (GRCm39)	H258Q	probably 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
R7425:Csnk1a1	UTSW	18	61,718,330 (GRCm39)	missense	unknown
R7617:Csnk1a1	UTSW	18	61,718,387 (GRCm39)	missense	unknown
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'- GACTACACATTTGATTGGACGATG -3'
(R):5'- GCAGTTGTTAAAATGACCCAAAATCCC -3'

Sequencing Primer
(F):5'- TTGATTGGACGATGTTAAAGCAG -3'
(R):5'- GTCAAATTTTCCAAGGACG -3'

Posted On

2020-12-18