Mutagenetix > Incidental Mutation

Incidental Mutation 'R1855:Csnk1a1'

206066

Institutional Source

Beutler Lab

Gene Symbol

Csnk1a1

Ensembl Gene

ENSMUSG00000024576

Gene Name

casein kinase 1, alpha 1

Synonyms

4632404G05Rik, CK1a, 2610208K14Rik, 5430427P18Rik

MMRRC Submission

039879-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1855 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61688345-61723132 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 61708498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8BK63

Predicted Effect

probably damaging
Transcript: ENSMUST00000115246
AA Change: F158L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110901
Gene: ENSMUSG00000024576
AA Change: F158L

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 damaging
Transcript: ENSMUST00000163205
AA Change: F158L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127144
Gene: ENSMUSG00000024576
AA Change: F158L

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 null
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 damaging
Transcript: ENSMUST00000165123
AA Change: F158L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128871
Gene: ENSMUSG00000024576
AA Change: F158L

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 damaging
Transcript: ENSMUST00000165721
AA Change: F158L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132083
Gene: ENSMUSG00000024576
AA Change: F158L

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 damaging
Transcript: ENSMUST00000166990
AA Change: F158L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131687
Gene: ENSMUSG00000024576
AA Change: F158L

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: F186L

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127463
Gene: ENSMUSG00000024576
AA Change: F186L

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: F186L

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127265
Gene: ENSMUSG00000024576
AA Change: F186L

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

0.9140

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (72/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 11,818,195 (GRCm39)	L285Q	probably damaging	Het
Acaca	T	C	11: 84,262,380 (GRCm39)	L1994P	probably damaging	Het
Adamts9	A	G	6: 92,878,350 (GRCm39)		probably benign	Het
Aff3	T	C	1: 38,249,385 (GRCm39)	E574G	probably benign	Het
Ankrd1	T	C	19: 36,096,635 (GRCm39)	K64R	probably damaging	Het
Arhgap23	T	C	11: 97,339,523 (GRCm39)	I163T	probably damaging	Het
Ascc3	A	T	10: 50,494,018 (GRCm39)	Q151L	probably benign	Het
Atad2	G	A	15: 57,960,685 (GRCm39)	P971L	possibly damaging	Het
C1s1	A	C	6: 124,511,315 (GRCm39)		probably null	Het
Ccdc150	T	C	1: 54,407,069 (GRCm39)		probably benign	Het
Cdhr3	A	T	12: 33,110,351 (GRCm39)	I311N	probably damaging	Het
Chad	T	A	11: 94,456,303 (GRCm39)	L127H	probably damaging	Het
Clasp1	G	A	1: 118,436,624 (GRCm39)	A303T	probably damaging	Het
Clptm1	A	G	7: 19,372,134 (GRCm39)	V234A	probably benign	Het
Cnih3	C	A	1: 181,282,186 (GRCm39)	S140*	probably null	Het
Col24a1	G	A	3: 145,164,895 (GRCm39)	G1033D	probably damaging	Het
Cttnbp2	T	A	6: 18,378,412 (GRCm39)	I1475L	probably benign	Het
Dnah5	T	C	15: 28,411,815 (GRCm39)	V3728A	possibly damaging	Het
Dock9	C	A	14: 121,877,571 (GRCm39)	V391F	probably damaging	Het
Ehmt2	A	T	17: 35,129,752 (GRCm39)	I949F	probably damaging	Het
Eif4g1	C	A	16: 20,505,911 (GRCm39)	T1025K	possibly damaging	Het
Enpp2	C	T	15: 54,709,219 (GRCm39)	E803K	probably damaging	Het
Esrrg	A	T	1: 187,943,295 (GRCm39)	M423L	probably damaging	Het
Etnppl	A	T	3: 130,414,371 (GRCm39)	I89F	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbln7	A	G	2: 128,735,755 (GRCm39)	T248A	possibly damaging	Het
Galnt9	C	T	5: 110,763,390 (GRCm39)	T465M	probably damaging	Het
Grcc10	A	G	6: 124,717,541 (GRCm39)	V57A	probably benign	Het
Herc1	T	A	9: 66,298,708 (GRCm39)	M614K	possibly damaging	Het
Itch	C	T	2: 155,014,374 (GRCm39)		probably benign	Het
Kdm6b	C	A	11: 69,298,112 (GRCm39)	A167S	probably damaging	Het
Kidins220	C	T	12: 25,106,590 (GRCm39)	R1348C	probably damaging	Het
Kif17	T	C	4: 138,015,582 (GRCm39)	L577P	probably benign	Het
Krt25	A	T	11: 99,209,141 (GRCm39)	L258Q	probably damaging	Het
Marchf10	T	C	11: 105,281,218 (GRCm39)	T356A	probably benign	Het
Mical2	G	A	7: 111,944,489 (GRCm39)	A940T	probably benign	Het
Mrpl4	A	G	9: 20,914,667 (GRCm39)	E81G	possibly damaging	Het
Mtcl1	A	G	17: 66,686,509 (GRCm39)	V447A	probably benign	Het
Mtor	C	A	4: 148,637,546 (GRCm39)	N2502K	probably benign	Het
Notch4	G	A	17: 34,799,936 (GRCm39)	D966N	probably benign	Het
Oip5	C	A	2: 119,442,271 (GRCm39)	K214N	probably benign	Het
Or8a1b	A	T	9: 37,623,266 (GRCm39)	F103Y	possibly damaging	Het
Pabir2	T	A	X: 52,342,933 (GRCm39)	Q201H	probably benign	Het
Pak5	A	T	2: 135,929,429 (GRCm39)	S585T	probably benign	Het
Pard3	T	A	8: 128,174,293 (GRCm39)		probably null	Het
Pcnx2	A	T	8: 126,534,735 (GRCm39)		probably benign	Het
Pcsk5	T	C	19: 17,492,556 (GRCm39)	Y939C	possibly damaging	Het
Pde1a	A	G	2: 79,728,408 (GRCm39)		probably null	Het
Pde9a	C	T	17: 31,674,094 (GRCm39)	P60S	probably damaging	Het
Pikfyve	C	A	1: 65,297,957 (GRCm39)	T1562K	probably benign	Het
Plekhg6	A	T	6: 125,352,802 (GRCm39)	M115K	probably damaging	Het
Pogz	C	T	3: 94,786,160 (GRCm39)	T863I	probably benign	Het
Ppp1r3a	A	T	6: 14,754,993 (GRCm39)	W85R	probably damaging	Het
Rnf123	C	A	9: 107,938,990 (GRCm39)	R826L	probably damaging	Het
Slc1a6	T	A	10: 78,648,758 (GRCm39)	V493E	probably damaging	Het
Slc22a2	A	G	17: 12,805,699 (GRCm39)	D150G	probably damaging	Het
Snap47	C	T	11: 59,319,159 (GRCm39)		probably benign	Het
Spata22	A	G	11: 73,231,385 (GRCm39)	D213G	probably benign	Het
St6galnac2	T	A	11: 116,581,141 (GRCm39)	R60S	probably benign	Het
Stk32c	A	G	7: 138,701,363 (GRCm39)	F263S	probably damaging	Het
Supt6	T	C	11: 78,123,366 (GRCm39)	I104V	possibly damaging	Het
Tex2	T	C	11: 106,437,702 (GRCm39)	E158G	possibly damaging	Het
Tiam2	C	T	17: 3,465,410 (GRCm39)	R380C	probably damaging	Het
Trim25	C	T	11: 88,906,407 (GRCm39)	T410I	probably benign	Het
Usp18	T	A	6: 121,239,076 (GRCm39)	C212S	probably benign	Het
Vmn1r2	A	G	4: 3,172,588 (GRCm39)	Y169C	probably damaging	Het
Wdr33	A	T	18: 32,039,909 (GRCm39)		probably benign	Het
Xpr1	A	G	1: 155,159,002 (GRCm39)	Y597H	probably benign	Het
Yy1	CGGG	CGGGGGGGGG	12: 108,759,916 (GRCm39)		probably benign	Het
Zfp54	T	A	17: 21,654,404 (GRCm39)	Y299*	probably null	Het
Zfp566	T	G	7: 29,777,927 (GRCm39)	S85R	probably benign	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
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
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'- GGGCAGATGAAGTTACACGC -3'
(R):5'- GAAAAGCCATCAATAGTCTGCC -3'

Sequencing Primer
(F):5'- TTACTAGGTATACTGAATGGAGGGG -3'
(R):5'- AGCCATCAATAGTCTGCCTTGAG -3'

Posted On

2014-06-23