Mutagenetix > Incidental Mutation

Incidental Mutation 'R8721:Csnk1e'

662135

Institutional Source

Beutler Lab

Gene Symbol

Csnk1e

Ensembl Gene

ENSMUSG00000022433

Gene Name

casein kinase 1, epsilon

Synonyms

tau, CKIepsilon, CK1epsilon, CKI epsilon, KC1epsilon

MMRRC Submission

068717-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8721 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79302056-79339767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79314015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 78 (N78S)

Ref Sequence

ENSEMBL: ENSMUSP00000113341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117786] [ENSMUST00000120859] [ENSMUST00000122044] [ENSMUST00000135519] [ENSMUST00000144790] [ENSMUST00000156043] [ENSMUST00000229510] [ENSMUST00000230599] [ENSMUST00000230942]

AlphaFold

Q9JMK2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117786
AA Change: N78S

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113341
Gene: ENSMUSG00000022433
AA Change: N78S

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	9	273	8.7e-18	PFAM
Pfam:Pkinase	9	277	5.2e-28	PFAM
low complexity region	306	316	N/A	INTRINSIC
low complexity region	329	338	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120859
AA Change: N78S

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113975
Gene: ENSMUSG00000022433
AA Change: N78S

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	9	273	9.8e-18	PFAM
Pfam:Pkinase	9	280	7e-40	PFAM
low complexity region	306	316	N/A	INTRINSIC
low complexity region	329	338	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122044
AA Change: N78S

PolyPhen 2 Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113096
Gene: ENSMUSG00000022433
AA Change: N78S

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	9	273	7.9e-18	PFAM
Pfam:Pkinase	9	280	5.7e-40	PFAM
low complexity region	309	324	N/A	INTRINSIC
low complexity region	345	350	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135519
AA Change: N78S

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122135
Gene: ENSMUSG00000022433
AA Change: N78S

Domain	Start	End	E-Value	Type
Pfam:Pkinase	9	118	1.5e-11	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144790
AA Change: N78S

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115637
Gene: ENSMUSG00000022433
AA Change: N78S

Domain	Start	End	E-Value	Type
Pfam:Pkinase	9	141	9.3e-24	PFAM
Pfam:Pkinase_Tyr	9	141	5.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156043

SMART Domains

Protein: ENSMUSP00000116593
Gene: ENSMUSG00000022433

Domain	Start	End	E-Value	Type
Pfam:Pkinase	9	60	1.4e-6	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229510
AA Change: N21S

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230599
AA Change: N78S

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230942
AA Change: N78S

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.1%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit disruptions in circadian rhythms. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,035,115 (GRCm39)	D684G	possibly damaging	Het
Abhd16a	T	C	17: 35,310,571 (GRCm39)	V94A	possibly damaging	Het
Acly	A	T	11: 100,412,806 (GRCm39)		probably null	Het
Adamts1	G	T	16: 85,594,775 (GRCm39)	T621K	probably damaging	Het
Arhgap24	A	T	5: 103,023,565 (GRCm39)	T200S	possibly damaging	Het
Arhgap31	A	G	16: 38,427,058 (GRCm39)	V598A	probably benign	Het
Ascc1	T	C	10: 59,933,928 (GRCm39)	F323S	possibly damaging	Het
Cdcp3	T	C	7: 130,879,335 (GRCm39)	S1785P	unknown	Het
Ces2b	T	A	8: 105,560,527 (GRCm39)	V114D	possibly damaging	Het
Cfap73	T	C	5: 120,768,089 (GRCm39)	E223G	probably benign	Het
Cyp7a1	G	T	4: 6,268,273 (GRCm39)	A484E	probably damaging	Het
Dnah9	G	T	11: 65,986,124 (GRCm39)	T1170K	probably damaging	Het
Fam83d	G	T	2: 158,627,522 (GRCm39)	V404L	probably benign	Het
Fbxw28	C	T	9: 109,157,382 (GRCm39)	V289I	probably benign	Het
Frs2	T	G	10: 116,909,935 (GRCm39)	I476L	probably benign	Het
Gbp2b	A	T	3: 142,312,705 (GRCm39)	I363F	possibly damaging	Het
Gm8267	A	T	14: 44,959,507 (GRCm39)	F186I	possibly damaging	Het
Hand1	A	G	11: 57,722,605 (GRCm39)	L3P	probably damaging	Het
Hmcn2	C	T	2: 31,315,189 (GRCm39)	L3671F	probably damaging	Het
Hspa12b	A	G	2: 130,982,922 (GRCm39)	D260G	probably benign	Het
Itih2	T	C	2: 10,111,619 (GRCm39)	K440E	probably damaging	Het
Morn4	A	T	19: 42,066,439 (GRCm39)	N49K	possibly damaging	Het
Mtmr6	T	G	14: 60,527,128 (GRCm39)		probably null	Het
Mylk	A	T	16: 34,817,176 (GRCm39)	D1848V	probably damaging	Het
Myo7b	A	G	18: 32,140,064 (GRCm39)	V242A	probably damaging	Het
Or4a74	T	C	2: 89,440,186 (GRCm39)	K87E	probably benign	Het
Or8g19	T	G	9: 39,055,386 (GRCm39)		probably benign	Het
Rmdn3	T	A	2: 118,969,846 (GRCm39)	Q405L	possibly damaging	Het
Robo2	A	G	16: 73,703,798 (GRCm39)	S30P		Het
Suclg1	G	T	6: 73,246,362 (GRCm39)	L218F	probably damaging	Het
Tas2r134	T	C	2: 51,517,571 (GRCm39)	S17P	probably damaging	Het
Tdrd9	T	C	12: 112,002,889 (GRCm39)	L846P	probably damaging	Het
Tgfbi	A	G	13: 56,773,599 (GRCm39)	N199S	probably benign	Het
Traj35	C	T	14: 54,421,272 (GRCm39)	T14I		Het
Tril	A	G	6: 53,797,183 (GRCm39)	V13A	probably benign	Het
Tshz2	T	A	2: 169,727,278 (GRCm39)	S625T	probably benign	Het
Ttll12	A	G	15: 83,464,784 (GRCm39)	F464L	probably damaging	Het
Wdr35	T	C	12: 9,075,044 (GRCm39)		probably null	Het
Zfp346	A	G	13: 55,261,491 (GRCm39)	S94G	possibly damaging	Het
Zfp429	T	A	13: 67,538,331 (GRCm39)	Y371F	probably damaging	Het
Zscan4-ps2	A	T	7: 11,251,522 (GRCm39)	E186V	probably benign	Het

Other mutations in Csnk1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0624:Csnk1e	UTSW	15	79,304,098 (GRCm39)	unclassified	probably benign
R1281:Csnk1e	UTSW	15	79,304,841 (GRCm39)	missense	possibly damaging	0.80
R1618:Csnk1e	UTSW	15	79,309,050 (GRCm39)	missense	probably benign	0.02
R3005:Csnk1e	UTSW	15	79,323,005 (GRCm39)	missense	probably benign	0.42
R4241:Csnk1e	UTSW	15	79,309,095 (GRCm39)	missense	probably damaging	1.00
R4242:Csnk1e	UTSW	15	79,309,095 (GRCm39)	missense	probably damaging	1.00
R4276:Csnk1e	UTSW	15	79,313,967 (GRCm39)	missense	probably damaging	1.00
R4438:Csnk1e	UTSW	15	79,305,129 (GRCm39)	missense	probably benign	0.08
R4994:Csnk1e	UTSW	15	79,309,129 (GRCm39)	missense	probably damaging	1.00
R5071:Csnk1e	UTSW	15	79,305,072 (GRCm39)	nonsense	probably null
R7072:Csnk1e	UTSW	15	79,322,967 (GRCm39)	splice site	probably null
R7553:Csnk1e	UTSW	15	79,310,566 (GRCm39)	missense	probably damaging	1.00
R8379:Csnk1e	UTSW	15	79,304,882 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TAGAGAGTCTCACAGGGCAG -3'
(R):5'- CTACAAGATGATGCAGGGCG -3'

Sequencing Primer
(F):5'- GAAGAAGTCACCTGAGAGTCCC -3'
(R):5'- GCTGACCGAGTCTCTCT -3'

Posted On

2021-03-08