Mutagenetix > Incidental Mutation

Incidental Mutation 'R8411:Csnk1a1'

652709

Institutional Source

Beutler Lab

Gene Symbol

Csnk1a1

Ensembl Gene

ENSMUSG00000024576

Gene Name

casein kinase 1, alpha 1

Synonyms

4632404G05Rik, CK1a, 5430427P18Rik, 2610208K14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61555274-61590061 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61555817 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 23 (I23V)

Ref Sequence

ENSEMBL: ENSMUSP00000128871 (fasta)

Gene Model

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

AlphaFold

Q8BK63

Predicted Effect

probably benign
Transcript: ENSMUST00000115246
AA Change: I23V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000110901
Gene: ENSMUSG00000024576
AA Change: I23V

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
AA Change: I23V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000127144
Gene: ENSMUSG00000024576
AA Change: I23V

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: ENSMUST00000165123
AA Change: I23V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000128871
Gene: ENSMUSG00000024576
AA Change: I23V

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
AA Change: I23V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000132083
Gene: ENSMUSG00000024576
AA Change: I23V

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
AA Change: I23V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000131687
Gene: ENSMUSG00000024576
AA Change: I23V

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
AA Change: I23V

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000127463
Gene: ENSMUSG00000024576
AA Change: I23V

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
AA Change: I23V

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127265
Gene: ENSMUSG00000024576
AA Change: I23V

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,137,722	S89P	probably benign	Het
Aatf	A	T	11: 84,470,676	M367K	probably benign	Het
Adam18	A	T	8: 24,652,127	I211N	probably damaging	Het
Angpt1	T	C	15: 42,427,034	Y478C	probably damaging	Het
Apba2	A	T	7: 64,736,926	I434F	probably damaging	Het
Arfgef1	T	A	1: 10,216,534	K50N	probably benign	Het
Arfgef2	A	T	2: 166,873,983	Q1397H	probably benign	Het
Ascc2	G	A	11: 4,647,208	R129Q	probably damaging	Het
Atxn1	A	G	13: 45,566,556	V621A	probably benign	Het
Catsperz	A	T	19: 6,922,562	L192M	probably benign	Het
Cd5	G	A	19: 10,720,221	P465S	probably damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Cfap61	A	G	2: 145,947,183	E94G	probably benign	Het
Chd1	A	G	17: 15,762,449	H1392R	probably damaging	Het
Ctnnd2	C	T	15: 30,647,033	R292C	probably benign	Het
Dcaf6	T	A	1: 165,388,675	H453L	probably benign	Het
Dnah3	C	A	7: 120,011,030	D1728Y	probably damaging	Het
Dtx3	T	C	10: 127,192,824	K179E	possibly damaging	Het
Fam3b	T	A	16: 97,481,853	Y74F	probably benign	Het
Gm5464	T	C	14: 66,869,106	L64P	unknown	Het
Gm5624	T	G	14: 44,561,890	N70T		Het
Kcnh7	T	A	2: 62,764,608	H706L	probably damaging	Het
Kdm2b	C	T	5: 122,880,176	R1067H	probably damaging	Het
Klhl28	A	T	12: 64,950,090	H492Q	probably damaging	Het
Loxl3	T	A	6: 83,050,624	C716S	probably damaging	Het
Ltbp2	A	G	12: 84,786,413	Y1474H	probably damaging	Het
Mcm3	C	T	1: 20,816,756	V142I	probably benign	Het
Mmp24	G	T	2: 155,814,015	V458L	probably benign	Het
Mpl	C	A	4: 118,446,109	S502I		Het
Nfatc1	A	T	18: 80,667,042	V503D	probably damaging	Het
Nim1k	A	G	13: 119,714,271	I133T	possibly damaging	Het
Nr1d2	T	C	14: 18,215,031	Y327C	probably damaging	Het
Olfr1214	T	C	2: 88,988,065	T46A	probably benign	Het
Oma1	C	T	4: 103,328,916	R360*	probably null	Het
Oog2	T	A	4: 144,194,173	W59R	probably damaging	Het
Pcdh10	A	G	3: 45,379,539	E96G	probably damaging	Het
Pcna	T	A	2: 132,251,930	T98S	probably benign	Het
Pcnx3	C	T	19: 5,679,590	C899Y	possibly damaging	Het
Phf11d	T	C	14: 59,356,434	N97S	probably benign	Het
Plekhg4	G	A	8: 105,377,329	W431*	probably null	Het
Plk4	A	G	3: 40,813,466	T815A	probably benign	Het
Pnma2	C	T	14: 66,916,313	T62I	possibly damaging	Het
Ppp1r9a	C	T	6: 5,057,568	R548W	probably damaging	Het
Ptx3	A	G	3: 66,224,780	S241G	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rplp0	A	T	5: 115,560,764	K26N	probably damaging	Het
Sec62	A	C	3: 30,818,782	E338A	unknown	Het
Sema6a	T	C	18: 47,248,955	M842V	probably benign	Het
Serpina3j	T	C	12: 104,314,784	V72A	probably benign	Het
Siglecf	T	C	7: 43,351,944	F112S	probably damaging	Het
Slc29a4	A	G	5: 142,720,125	N455D	probably damaging	Het
Slc6a11	T	A	6: 114,131,437	F54Y	probably benign	Het
Spag6	G	A	2: 18,710,583	V80M	probably damaging	Het
Spic	T	C	10: 88,678,636	E34G	possibly damaging	Het
Tecpr2	A	G	12: 110,931,720	K469E	possibly damaging	Het
Them7	T	A	2: 105,297,845	L57Q	probably benign	Het
Tlr3	G	A	8: 45,396,941	A897V	probably damaging	Het
Tnp2	A	G	16: 10,788,508	C32R	possibly damaging	Het
Trpm6	A	T	19: 18,853,968	Q1399L	probably benign	Het
Ttn	C	A	2: 76,846,671	E11074*	probably null	Het
Ubash3b	G	A	9: 41,043,485	A243V	probably benign	Het
Vash1	G	A	12: 86,680,178	R64Q	possibly damaging	Het
Vmn1r167	T	A	7: 23,505,556	M12L	possibly damaging	Het
Vmn2r111	T	A	17: 22,548,581	H645L	probably benign	Het
Vmn2r75	A	T	7: 86,148,514	I697K	probably damaging	Het
Vmn2r87	A	G	10: 130,472,257	I704T	probably damaging	Het

Other mutations in Csnk1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00939:Csnk1a1	APN	18	61575450	missense	probably damaging	1.00
IGL00984:Csnk1a1	APN	18	61575553	splice site	probably benign
IGL03107:Csnk1a1	APN	18	61568305	missense	probably damaging	1.00
R0513:Csnk1a1	UTSW	18	61576547	missense	probably damaging	0.99
R1068:Csnk1a1	UTSW	18	61569563	critical splice donor site	probably null
R1511:Csnk1a1	UTSW	18	61585250	intron	probably benign
R1855:Csnk1a1	UTSW	18	61575427	splice site	probably null
R2944:Csnk1a1	UTSW	18	61578689	missense	probably benign	0.02
R4426:Csnk1a1	UTSW	18	61585310	intron	probably benign
R4893:Csnk1a1	UTSW	18	61585301	intron	probably benign
R5000:Csnk1a1	UTSW	18	61578769	missense	probably damaging	1.00
R5070:Csnk1a1	UTSW	18	61555781	missense	probably benign	0.02
R5095:Csnk1a1	UTSW	18	61575476	missense	probably damaging	1.00
R6523:Csnk1a1	UTSW	18	61555758	missense	probably benign	0.01
R6601:Csnk1a1	UTSW	18	61578758	missense	probably damaging	1.00
R7425:Csnk1a1	UTSW	18	61585259	missense	unknown
R7617:Csnk1a1	UTSW	18	61585316	missense	unknown
R8358:Csnk1a1	UTSW	18	61580539	splice site	probably null
R8379:Csnk1a1	UTSW	18	61555854	missense	probably benign	0.00
R9571:Csnk1a1	UTSW	18	61571898	missense	possibly damaging	0.60
X0028:Csnk1a1	UTSW	18	61578632	splice site	probably null
X0064:Csnk1a1	UTSW	18	61569564	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CGACAGAGCCTTGGGTTTAG -3'
(R):5'- TGCTAAGCCAGGAAAACCGG -3'

Sequencing Primer
(F):5'- TTTAGGTTGCCCGCCGC -3'
(R):5'- TACCTCGCCATTGGTGAT -3'

Posted On

2020-10-20