Mutagenetix > Incidental Mutation

Incidental Mutation 'R4767:Csnk1d'

366236

Institutional Source

Beutler Lab

Gene Symbol

Csnk1d

Ensembl Gene

ENSMUSG00000025162

Gene Name

casein kinase 1, delta

Synonyms

1200006A05Rik

MMRRC Submission

042408-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4767 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120849816-120882156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120859954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 318 (S318P)

Ref Sequence

ENSEMBL: ENSMUSP00000070721 (fasta)

Gene Model

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

AlphaFold

Q9DC28

Predicted Effect

probably benign
Transcript: ENSMUST00000018274
AA Change: S318P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000018274
Gene: ENSMUSG00000025162
AA Change: S318P

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 benign
Transcript: ENSMUST00000070575
AA Change: S318P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000070721
Gene: ENSMUSG00000025162
AA Change: S318P

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: 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189381

Meta Mutation Damage Score

0.0577

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

95% (62/65)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,029,804 (GRCm39)		probably null	Het
Aig1	T	C	10: 13,677,602 (GRCm39)	N130S	probably damaging	Het
Alx1	A	T	10: 102,861,047 (GRCm39)	Y160*	probably null	Het
Ap4e1	T	C	2: 126,902,358 (GRCm39)	I755T	probably benign	Het
Apoc3	C	A	9: 46,145,833 (GRCm39)	E21*	probably null	Het
Atp9b	G	T	18: 80,796,285 (GRCm39)	H919Q	probably damaging	Het
Cemip	T	G	7: 83,622,514 (GRCm39)	Y555S	probably damaging	Het
Cic	T	C	7: 24,971,025 (GRCm39)	V252A	possibly damaging	Het
Cracr2a	A	T	6: 127,588,470 (GRCm39)	N210Y	probably damaging	Het
Crocc2	G	A	1: 93,130,578 (GRCm39)	R953Q	possibly damaging	Het
Ddx21	A	G	10: 62,427,751 (GRCm39)	L384P	probably damaging	Het
Dnah5	C	T	15: 28,270,620 (GRCm39)	T974I	probably benign	Het
Duox1	A	G	2: 122,163,922 (GRCm39)	Y863C	possibly damaging	Het
Epg5	C	A	18: 78,066,498 (GRCm39)	P2133T	possibly damaging	Het
Ephb6	A	T	6: 41,591,119 (GRCm39)	Q92L	possibly damaging	Het
Ercc4	C	A	16: 12,939,959 (GRCm39)	A73D	probably damaging	Het
Eva1c	A	T	16: 90,701,235 (GRCm39)	Y290F	probably damaging	Het
Galnt5	T	A	2: 57,918,156 (GRCm39)	V798E	possibly damaging	Het
Haus4	T	C	14: 54,786,342 (GRCm39)	E149G	probably damaging	Het
Ighv1-13	A	G	12: 114,594,556 (GRCm39)	Y86C	unknown	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Lama3	T	C	18: 12,633,620 (GRCm39)	V1584A	probably benign	Het
Lamb1	A	G	12: 31,358,010 (GRCm39)	E1119G	probably damaging	Het
Lao1	T	C	4: 118,825,185 (GRCm39)	L335P	probably damaging	Het
Mindy4	A	G	6: 55,237,550 (GRCm39)	D375G	probably damaging	Het
Myo5a	T	C	9: 75,051,358 (GRCm39)	I317T	probably damaging	Het
Nhlrc2	G	A	19: 56,558,898 (GRCm39)	V128I	probably benign	Het
Nlrp2	C	T	7: 5,331,023 (GRCm39)	D458N	probably damaging	Het
Or1j18	A	T	2: 36,624,335 (GRCm39)	M1L	probably benign	Het
Or1o1	T	A	17: 37,717,091 (GRCm39)	C217*	probably null	Het
Or5a1	G	T	19: 12,097,300 (GRCm39)	H247N	probably damaging	Het
Or8g24	T	C	9: 38,989,988 (GRCm39)	T18A	possibly damaging	Het
Or9q2	A	T	19: 13,772,409 (GRCm39)	C189S	probably damaging	Het
Parp8	T	C	13: 117,005,072 (GRCm39)	H663R	probably damaging	Het
Pax6	T	C	2: 105,525,705 (GRCm39)	S377P	probably benign	Het
Pi15	A	G	1: 17,672,990 (GRCm39)	D63G	probably benign	Het
Plaa	A	G	4: 94,474,495 (GRCm39)		probably benign	Het
Rbm5	C	A	9: 107,622,412 (GRCm39)	W546C	probably damaging	Het
Rnf123	C	A	9: 107,929,288 (GRCm39)	C1257F	probably damaging	Het
Rnf185	A	G	11: 3,382,551 (GRCm39)	S45P	possibly damaging	Het
Sh3bp1	T	C	15: 78,788,697 (GRCm39)	S241P	possibly damaging	Het
Slfn8	G	A	11: 82,894,023 (GRCm39)	A872V	possibly damaging	Het
Smoc1	G	A	12: 81,151,547 (GRCm39)		probably null	Het
Sox14	A	T	9: 99,757,686 (GRCm39)	W18R	probably damaging	Het
Spata31d1a	T	C	13: 59,848,969 (GRCm39)	E1053G	probably benign	Het
Syne1	T	A	10: 5,294,866 (GRCm39)	K1246*	probably null	Het
Tbrg4	A	C	11: 6,570,909 (GRCm39)	S188A	probably benign	Het
Thnsl2	A	T	6: 71,111,279 (GRCm39)	D196E	probably damaging	Het
Tmem266	C	T	9: 55,288,025 (GRCm39)	T34I	probably damaging	Het
Tmem59l	C	A	8: 70,938,748 (GRCm39)	R111L	probably benign	Het
Tpr	T	C	1: 150,306,280 (GRCm39)		probably benign	Het
Trpc6	T	C	9: 8,643,687 (GRCm39)	S491P	probably damaging	Het
Tspan10	A	T	11: 120,336,992 (GRCm39)	N254I	probably damaging	Het
Ubox5	A	T	2: 130,433,814 (GRCm39)	L511Q	probably damaging	Het
Vmn1r183	TATCCATC	TATC	7: 23,754,531 (GRCm39)		probably null	Het
Vmn2r4	C	T	3: 64,298,397 (GRCm39)	C577Y	probably damaging	Het
Vmn2r86	A	T	10: 130,291,606 (GRCm39)	M53K	probably benign	Het
Zfp948	T	A	17: 21,808,569 (GRCm39)	I587N	possibly 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
R4809:Csnk1d	UTSW	11	120,854,668 (GRCm39)	unclassified	probably benign
R4870:Csnk1d	UTSW	11	120,874,014 (GRCm39)	intron	probably benign
R6522:Csnk1d	UTSW	11	120,862,449 (GRCm39)	missense	probably damaging	1.00
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'- TGGTTAGCAATTCATCAACACAGC -3'
(R):5'- GGAGACTTCAAAGGGCACTC -3'

Sequencing Primer
(F):5'- CACAGCAAACAGAGGTCCTAGTTTG -3'
(R):5'- CATTACAGATGGTTGTGAGCCACC -3'

Posted On

2015-12-21