Mutagenetix > Incidental Mutations

Incidental Mutation 'R6657:Csnk1d'

526676

Institutional Source

Beutler Lab

Gene Symbol

Csnk1d

Ensembl Gene

ENSMUSG00000025162

Gene Name

casein kinase 1, delta

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6657 (G1)

Quality Score

206.009

Status

Validated

Chromosome

Chromosomal Location

120961749-120991330 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120964994 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 405 (E405G)

Ref Sequence

ENSEMBL: ENSMUSP00000070721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018274] [ENSMUST00000070575] [ENSMUST00000168579]

AlphaFold

Q9DC28

Predicted Effect

probably benign
Transcript: ENSMUST00000018274

SMART Domains

Protein: ENSMUSP00000018274
Gene: ENSMUSG00000025162

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

possibly damaging
Transcript: ENSMUST00000070575
AA Change: E405G

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000070721
Gene: ENSMUSG00000025162
AA Change: E405G

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: ENSMUST00000131375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139267

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141071

Predicted Effect

probably benign
Transcript: ENSMUST00000168579

SMART Domains

Protein: ENSMUSP00000125846
Gene: ENSMUSG00000025161

Domain	Start	End	E-Value	Type
Pfam:MFS_1	25	375	8.3e-32	PFAM
transmembrane domain	390	412	N/A	INTRINSIC
low complexity region	420	432	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189381

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

Validation Efficiency

98% (48/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	T	G	8: 105,708,818	L36R	probably damaging	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Akr1b7	A	C	6: 34,416,200	D106A	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Chst5	C	T	8: 111,890,274	R238Q	probably benign	Het
Cpxm2	T	C	7: 132,049,077	Y618C	probably damaging	Het
Ctsh	A	T	9: 90,060,502	M37L	probably benign	Het
Eml5	T	G	12: 98,791,405	I1843L	probably damaging	Het
Ep400	C	A	5: 110,693,545		probably benign	Het
Fbln2	A	G	6: 91,259,750	N749S	possibly damaging	Het
Gpc5	A	G	14: 115,370,198	H404R	probably benign	Het
Hyal6	A	G	6: 24,734,758	D230G	possibly damaging	Het
Itga5	T	C	15: 103,350,795	D735G	probably damaging	Het
Kansl2	T	A	15: 98,524,670	Q339L	possibly damaging	Het
Lrp4	T	A	2: 91,492,053	M1078K	probably benign	Het
Mmp24	A	T	2: 155,798,179	Y143F	probably damaging	Het
Mroh7	A	T	4: 106,702,500	C743*	probably null	Het
Myh14	T	C	7: 44,637,846	N618D	probably damaging	Het
Myo19	A	T	11: 84,897,196	M324L	probably benign	Het
Nectin2	T	C	7: 19,738,140	N108S	probably benign	Het
Nrg2	A	G	18: 36,196,589	I191T	probably damaging	Het
Odf4	T	C	11: 68,926,812	N18D	probably benign	Het
Olfr1109	T	A	2: 87,093,059	I113F	probably benign	Het
Pcsk2	T	G	2: 143,690,366	L145V	probably damaging	Het
Pdzrn3	C	A	6: 101,151,022	Q894H	probably benign	Het
Pfpl	G	A	19: 12,429,926	V514I	probably benign	Het
Plbd1	A	T	6: 136,617,252	M333K	probably damaging	Het
Plec	A	T	15: 76,178,156	M2554K	possibly damaging	Het
Psmb5	A	G	14: 54,614,383	Y115H	possibly damaging	Het
Rictor	A	G	15: 6,759,496	N198D	possibly damaging	Het
Rsrc2	A	G	5: 123,739,567		probably benign	Het
Sec16a	C	T	2: 26,425,864	W262*	probably null	Het
Sfmbt1	A	G	14: 30,766,096	D8G	possibly damaging	Het
Sptbn5	T	G	2: 120,076,400		probably benign	Het
Sqor	A	G	2: 122,807,594	D139G	possibly damaging	Het
Sugt1	A	T	14: 79,607,261	T139S	probably benign	Het
Tcp11	G	A	17: 28,071,672	P159S	probably damaging	Het
Tmem262	A	G	19: 6,080,512	T89A	possibly damaging	Het
Tnfaip6	C	A	2: 52,043,783	T50N	probably damaging	Het
Ttll9	T	C	2: 152,984,262	Y131H	probably damaging	Het
Vmn1r173	T	A	7: 23,702,895	M185K	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r52	G	A	7: 10,159,163	T683I	probably damaging	Het
Vps53	A	T	11: 76,134,427	I197N	probably damaging	Het
Washc4	T	A	10: 83,558,618	F269L	possibly damaging	Het
Wdfy4	C	T	14: 33,047,251	V2086M	possibly damaging	Het
Zfp592	A	T	7: 81,025,486	T733S	possibly damaging	Het
Zfp599	A	G	9: 22,250,242	F209S	probably damaging	Het

Other mutations in Csnk1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01689:Csnk1d	APN	11	120971567	missense	probably benign	0.06
IGL01905:Csnk1d	APN	11	120973963	missense	probably damaging	1.00
IGL02476:Csnk1d	APN	11	120972512	missense	probably damaging	1.00
R1971:Csnk1d	UTSW	11	120972448	missense	possibly damaging	0.95
R2245:Csnk1d	UTSW	11	120972403	missense	probably damaging	1.00
R4472:Csnk1d	UTSW	11	120964974	unclassified	probably benign
R4767:Csnk1d	UTSW	11	120969128	missense	probably benign
R4809:Csnk1d	UTSW	11	120963842	unclassified	probably benign
R4870:Csnk1d	UTSW	11	120983188	intron	probably benign
R6522:Csnk1d	UTSW	11	120971623	missense	probably damaging	1.00
RF009:Csnk1d	UTSW	11	120971627	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- AAGGATGCCACTGATTCCCC -3'
(R):5'- GCACTGTGTGGAGAGACTTG -3'

Sequencing Primer
(F):5'- ACTGATTCCCCCAGACTGG -3'
(R):5'- AGAGACTTGCCGTGAGCTG -3'

Posted On

2018-07-23