Mutagenetix > Incidental Mutation

Incidental Mutation 'R6522:Csnk1d'

521400

Institutional Source

Beutler Lab

Gene Symbol

Csnk1d

Ensembl Gene

ENSMUSG00000025162

Gene Name

casein kinase 1, delta

Synonyms

1200006A05Rik

MMRRC Submission

044648-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6522 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120849816-120882156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120862449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 277 (F277L)

Ref Sequence

ENSEMBL: ENSMUSP00000070721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018274] [ENSMUST00000070575]

AlphaFold

Q9DC28

Predicted Effect

probably damaging
Transcript: ENSMUST00000018274
AA Change: F277L

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

SMART Domains

Protein: ENSMUSP00000018274
Gene: ENSMUSG00000025162
AA Change: F277L

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	9	273	3.7e-18	PFAM
Pfam:Pkinase	9	277	1.8e-28	PFAM
low complexity region	299	314	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000070575
AA Change: F277L

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

SMART Domains

Protein: ENSMUSP00000070721
Gene: ENSMUSG00000025162
AA Change: F277L

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	9	273	1.6e-18	PFAM
Pfam:Pkinase	9	280	2.8e-41	PFAM
low complexity region	299	314	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139267

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141071

Predicted Effect

probably benign
Transcript: ENSMUST00000146837

SMART Domains

Protein: ENSMUSP00000115055
Gene: ENSMUSG00000025162

Domain	Start	End	E-Value	Type
Pfam:Pkinase	2	55	6.6e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154483

SMART Domains

Protein: ENSMUSP00000117472
Gene: ENSMUSG00000025162

Domain	Start	End	E-Value	Type
low complexity region	12	25	N/A	INTRINSIC
Pfam:Pkinase_Tyr	27	210	2.5e-12	PFAM
Pfam:Pkinase	28	218	3.4e-21	PFAM

Meta Mutation Damage Score

0.8482

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: This gene encodes a member of the casein kinase I (CKI) family of serine/threonine protein kinases. A highly similar human protein regulates an array of cellular processes by influencing the Wnt and hedgehog signaling pathways. The encoded protein may also be involved in the regulation of apoptosis, circadian rhythm, microtubule dynamics, chromosome segregation, and p53-mediated effects on growth. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die 1.5 to 5 days after birth and fetal weight is significantly smaller than controls. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	C	A	10: 10,253,636 (GRCm39)	E1209*	probably null	Het
Adgrg5	G	T	8: 95,668,696 (GRCm39)	R503L	probably benign	Het
Anks1b	C	T	10: 90,733,189 (GRCm39)		probably benign	Het
Anxa5	A	T	3: 36,519,451 (GRCm39)	F13I	probably damaging	Het
Bicd1	A	G	6: 149,385,503 (GRCm39)	I79V	probably benign	Het
Bnip1	A	G	17: 27,008,719 (GRCm39)	D107G	probably damaging	Het
Ccdc42	A	G	11: 68,479,046 (GRCm39)	E78G	probably damaging	Het
Ccnk	A	G	12: 108,153,446 (GRCm39)	D69G	probably damaging	Het
Clec2i	G	T	6: 128,870,692 (GRCm39)	V77F	probably damaging	Het
Clec4g	A	C	8: 3,768,803 (GRCm39)	V62G	probably benign	Het
Col4a4	G	A	1: 82,465,304 (GRCm39)	A957V	unknown	Het
Dip2c	G	A	13: 9,625,264 (GRCm39)		probably null	Het
Dpf2	T	A	19: 5,955,560 (GRCm39)	K108*	probably null	Het
Dync1h1	G	A	12: 110,583,171 (GRCm39)	D423N	probably damaging	Het
Fbxl13	T	C	5: 21,766,554 (GRCm39)		probably null	Homo
Flad1	T	C	3: 89,310,490 (GRCm39)	R488G	probably damaging	Het
Galnt6	A	C	15: 100,591,236 (GRCm39)	*623E	probably null	Het
Gtf2e1	T	C	16: 37,331,816 (GRCm39)	T420A	possibly damaging	Het
Hspg2	T	C	4: 137,282,586 (GRCm39)	V3442A	probably damaging	Het
Itpr1	A	G	6: 108,365,237 (GRCm39)	D55G	probably damaging	Het
Kdm2a	C	A	19: 4,374,854 (GRCm39)	R759L	possibly damaging	Het
Kif19a	A	G	11: 114,676,605 (GRCm39)	E478G	probably damaging	Het
Lamb3	G	A	1: 193,017,761 (GRCm39)	V881I	probably benign	Het
Map3k6	T	C	4: 132,977,335 (GRCm39)	L894P	possibly damaging	Het
Mast4	A	G	13: 102,897,801 (GRCm39)		probably null	Het
Mst1r	G	A	9: 107,790,438 (GRCm39)	V684M	probably benign	Het
Naa15	T	C	3: 51,378,935 (GRCm39)	S727P	probably damaging	Het
Nap1l1	T	C	10: 111,330,084 (GRCm39)	L330S	probably damaging	Het
Nav2	A	G	7: 49,247,281 (GRCm39)	T2205A	probably damaging	Het
Ncf2	T	C	1: 152,703,214 (GRCm39)		probably null	Het
Opa1	T	A	16: 29,444,332 (GRCm39)	N839K	probably benign	Het
Or4c104	T	C	2: 88,586,452 (GRCm39)	D189G	probably damaging	Het
Or52a33	T	C	7: 103,288,504 (GRCm39)	Y281C	probably damaging	Het
Or52n4b	G	A	7: 108,144,202 (GRCm39)	V155I	probably benign	Het
Pcdha7	T	C	18: 37,106,995 (GRCm39)	Y7H	possibly damaging	Het
Pcdhb15	T	C	18: 37,607,314 (GRCm39)	V182A	probably benign	Het
Phf10	A	T	17: 15,176,269 (GRCm39)	I128N	probably damaging	Het
Plce1	T	A	19: 38,736,965 (GRCm39)		probably null	Het
Plxnb2	T	C	15: 89,048,629 (GRCm39)	N626S	probably benign	Het
Prh1	G	A	6: 132,548,996 (GRCm39)	G168R	unknown	Het
Prss51	A	G	14: 64,334,855 (GRCm39)	T137A	possibly damaging	Het
Ptprcap	C	T	19: 4,206,183 (GRCm39)	R89C	possibly damaging	Het
Scfd1	A	G	12: 51,478,324 (GRCm39)	K512R	probably benign	Het
Serpina1b	A	C	12: 103,701,296 (GRCm39)		probably null	Het
Setbp1	T	C	18: 78,900,605 (GRCm39)	T1021A	probably damaging	Het
Slco1b2	G	A	6: 141,601,145 (GRCm39)		probably null	Het
Snrnp200	C	T	2: 127,063,747 (GRCm39)	T642I	probably benign	Het
Tenm4	A	C	7: 96,492,251 (GRCm39)	I1063L	possibly damaging	Het
Tfb2m	G	A	1: 179,373,611 (GRCm39)	A29V	probably benign	Het
Tfeb	T	C	17: 48,100,627 (GRCm39)	V140A	probably damaging	Het
Tmem104	A	T	11: 115,134,579 (GRCm39)	I372F	probably damaging	Het
Tmem132d	G	T	5: 127,860,832 (GRCm39)	H1096Q	probably benign	Het
Trim12c	A	T	7: 103,997,531 (GRCm39)	N8K	probably benign	Het
Tti2	A	G	8: 31,643,631 (GRCm39)	I249V	probably null	Het
Vps8	T	A	16: 21,261,129 (GRCm39)	L90I	probably damaging	Het
Vwf	A	T	6: 125,639,926 (GRCm39)		probably null	Het
Wdfy4	A	G	14: 32,868,901 (GRCm39)	S376P	probably damaging	Het

Other mutations in Csnk1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01689:Csnk1d	APN	11	120,862,393 (GRCm39)	missense	probably benign	0.06
IGL01905:Csnk1d	APN	11	120,864,789 (GRCm39)	missense	probably damaging	1.00
IGL02476:Csnk1d	APN	11	120,863,338 (GRCm39)	missense	probably damaging	1.00
R1971:Csnk1d	UTSW	11	120,863,274 (GRCm39)	missense	possibly damaging	0.95
R2245:Csnk1d	UTSW	11	120,863,229 (GRCm39)	missense	probably damaging	1.00
R4472:Csnk1d	UTSW	11	120,855,800 (GRCm39)	unclassified	probably benign
R4767:Csnk1d	UTSW	11	120,859,954 (GRCm39)	missense	probably benign
R4809:Csnk1d	UTSW	11	120,854,668 (GRCm39)	unclassified	probably benign
R4870:Csnk1d	UTSW	11	120,874,014 (GRCm39)	intron	probably benign
R6657:Csnk1d	UTSW	11	120,855,820 (GRCm39)	missense	possibly damaging	0.75
RF009:Csnk1d	UTSW	11	120,862,453 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- GTGACTTGCAAACCCGAGTC -3'
(R):5'- AGGCCAGATATGACTAGTCTTCAG -3'

Sequencing Primer
(F):5'- TTGCAAACCCGAGTCTTGCAG -3'
(R):5'- ATGACTAGTCTTCAGATTGTGTCTC -3'

Posted On

2018-06-06