Mutagenetix > Incidental Mutation

Incidental Mutation 'R9571:Csnk1a1'

722024

Institutional Source

Beutler Lab

Gene Symbol

Csnk1a1

Ensembl Gene

ENSMUSG00000024576

Gene Name

casein kinase 1, alpha 1

Synonyms

4632404G05Rik, CK1a, 2610208K14Rik, 5430427P18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9571 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61688345-61723132 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61704969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 161 (R161G)

Ref Sequence

ENSEMBL: ENSMUSP00000127265 (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

probably benign
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

possibly damaging
Transcript: ENSMUST00000167187
AA Change: R161G

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127463
Gene: ENSMUSG00000024576
AA Change: R161G

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

possibly damaging
Transcript: ENSMUST00000170862
AA Change: R161G

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127265
Gene: ENSMUSG00000024576
AA Change: R161G

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	A	G	2: 130,247,482 (GRCm39)	D6G	probably benign	Het
Abl2	T	G	1: 156,469,084 (GRCm39)	S783A	probably damaging	Het
Adamtsl1	A	T	4: 86,117,543 (GRCm39)	T169S	probably benign	Het
Adcy9	A	G	16: 4,141,653 (GRCm39)	V621A	probably benign	Het
Ahnak2	T	C	12: 112,742,510 (GRCm39)	S521G	possibly damaging	Het
Ap2m1	G	A	16: 20,360,037 (GRCm39)	G213R	probably damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Arl4d	T	C	11: 101,558,032 (GRCm39)	M186T	possibly damaging	Het
Cep192	A	G	18: 67,952,109 (GRCm39)	D428G	probably damaging	Het
Ckap5	A	C	2: 91,387,953 (GRCm39)	D266A	probably damaging	Het
Crls1	A	T	2: 132,691,793 (GRCm39)	N106I	probably damaging	Het
Csmd3	T	A	15: 48,655,398 (GRCm39)		probably benign	Het
Cyp4f39	T	A	17: 32,702,196 (GRCm39)	I231N	probably damaging	Het
Ddx31	T	A	2: 28,750,034 (GRCm39)	V352D	probably damaging	Het
Dna2	A	G	10: 62,800,740 (GRCm39)	D758G	probably damaging	Het
Duxf4	G	A	10: 58,071,378 (GRCm39)	L279F	possibly damaging	Het
Gatad2a	C	A	8: 70,370,381 (GRCm39)	A172S	probably benign	Het
Ghsr	G	T	3: 27,426,664 (GRCm39)	R240L	probably benign	Het
Gli3	T	A	13: 15,900,858 (GRCm39)	M1415K	probably benign	Het
Glo1	G	A	17: 30,816,835 (GRCm39)	T107I	possibly damaging	Het
Gm10800	AAAGAAAACTGAA	ACAAGAAAACTGAA	2: 98,497,378 (GRCm39)		probably null	Het
Gm17334	C	T	11: 53,663,760 (GRCm39)	V34M	unknown	Het
Habp4	T	A	13: 64,322,615 (GRCm39)	M228K	probably benign	Het
Hacl1	A	G	14: 31,344,838 (GRCm39)	V257A	possibly damaging	Het
Ift122	T	G	6: 115,857,628 (GRCm39)	S125A	possibly damaging	Het
Iqce	C	T	5: 140,651,862 (GRCm39)	D704N	possibly damaging	Het
Jcad	T	A	18: 4,673,252 (GRCm39)	L338*	probably null	Het
Kcnj13	T	C	1: 87,316,849 (GRCm39)	D88G	probably damaging	Het
Kif1b	T	C	4: 149,305,098 (GRCm39)	D942G	probably damaging	Het
Marchf8	T	A	6: 116,383,237 (GRCm39)	S271T	probably benign	Het
Meis1	A	G	11: 18,961,378 (GRCm39)	L165S	probably damaging	Het
Morc2b	T	A	17: 33,355,178 (GRCm39)	T865S	probably benign	Het
Morc3	T	A	16: 93,641,107 (GRCm39)	N46K	possibly damaging	Het
Mpzl1	C	T	1: 165,429,374 (GRCm39)	C219Y	probably benign	Het
Mup5	A	G	4: 61,750,787 (GRCm39)		probably null	Het
Ninl	A	T	2: 150,791,803 (GRCm39)	W907R	probably benign	Het
Nol6	A	T	4: 41,120,156 (GRCm39)	S491T	probably benign	Het
Or4f53	A	T	2: 111,088,083 (GRCm39)	I208F	probably benign	Het
Or51g1	A	G	7: 102,634,221 (GRCm39)	V50A	probably benign	Het
Or5b121	T	A	19: 13,507,697 (GRCm39)	I264N	probably damaging	Het
Or6c205	C	A	10: 129,087,182 (GRCm39)	P260T	possibly damaging	Het
Osbpl6	T	A	2: 76,425,191 (GRCm39)	M919K	probably benign	Het
Otogl	A	T	10: 107,598,364 (GRCm39)	V2262E	possibly damaging	Het
Pcbp2	A	G	15: 102,383,113 (GRCm39)	D77G	possibly damaging	Het
Pcsk7	G	A	9: 45,820,907 (GRCm39)	R113Q	possibly damaging	Het
Pds5b	T	C	5: 150,645,971 (GRCm39)	I143T	probably damaging	Het
Polr2m	T	C	9: 71,386,710 (GRCm39)	E357G	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Ptprt	A	G	2: 161,395,732 (GRCm39)	V1167A	probably benign	Het
Rbm11	G	A	16: 75,397,543 (GRCm39)	E158K	possibly damaging	Het
Sall2	A	T	14: 52,551,830 (GRCm39)	V455E	probably damaging	Het
Sar1b	T	A	11: 51,680,064 (GRCm39)	L130Q	probably damaging	Het
Slc35f6	A	G	5: 30,815,180 (GRCm39)	N369S	possibly damaging	Het
Slc39a12	A	T	2: 14,412,380 (GRCm39)	M351L	probably benign	Het
Taf15	T	A	11: 83,395,487 (GRCm39)	Y397*	probably null	Het
Tmprss11e	A	T	5: 86,875,149 (GRCm39)	V39D	probably damaging	Het
Trim71	T	C	9: 114,342,359 (GRCm39)	D641G	probably damaging	Het
Trpc3	T	A	3: 36,694,909 (GRCm39)	T682S	probably damaging	Het
Tsen54	T	C	11: 115,707,933 (GRCm39)		probably null	Het
Usp6nl	A	G	2: 6,445,960 (GRCm39)	N646D	possibly damaging	Het
Vip	T	C	10: 5,590,661 (GRCm39)	F12L	probably benign	Het
Vmn1r39	A	T	6: 66,781,572 (GRCm39)	F249I	probably benign	Het
Vmn2r106	A	T	17: 20,505,641 (GRCm39)	S18T	probably benign	Het
Vmn2r97	G	T	17: 19,149,919 (GRCm39)	V436L	probably benign	Het
Washc2	T	C	6: 116,237,631 (GRCm39)		probably null	Het
Ykt6	T	C	11: 5,914,613 (GRCm39)	V171A	possibly damaging	Het
Zfp658	A	G	7: 43,222,139 (GRCm39)	D138G	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
R7425:Csnk1a1	UTSW	18	61,718,330 (GRCm39)	missense	unknown
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
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'- AGAATTCAGTGTTCTTGAGCATGTG -3'
(R):5'- CCAAGTATGTCTGAATAATGCCAAC -3'

Sequencing Primer
(F):5'- TTTGGAAAACTGAGAAGCTACAGTGC -3'
(R):5'- TGCCAACATAAGAGATGCTTGAGC -3'

Posted On

2022-08-09