Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02452:Csnk1g1'

293696

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Csnk1g1

Ensembl Gene

ENSMUSG00000032384

Gene Name

casein kinase 1, gamma 1

Synonyms

9130020E21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

IGL02452

Quality Score

Status

Chromosome

Chromosomal Location

65816235-65952297 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65915067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 242 (M242K)

Ref Sequence

ENSEMBL: ENSMUSP00000145887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034949] [ENSMUST00000117849] [ENSMUST00000130798] [ENSMUST00000136773] [ENSMUST00000205379] [ENSMUST00000206528] [ENSMUST00000206594] [ENSMUST00000206048] [ENSMUST00000206969] [ENSMUST00000208011]

AlphaFold

Q8BTH8

Predicted Effect

probably damaging
Transcript: ENSMUST00000034949
AA Change: M242K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034949
Gene: ENSMUSG00000032384
AA Change: M242K

Domain	Start	End	E-Value	Type
Pfam:Pkinase	44	302	2.5e-27	PFAM
Pfam:Pkinase_Tyr	44	308	1.5e-14	PFAM
Pfam:CK1gamma_C	331	429	2.8e-35	PFAM
low complexity region	434	440	N/A	INTRINSIC
low complexity region	442	453	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117849
AA Change: M242K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113160
Gene: ENSMUSG00000032384
AA Change: M242K

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	44	309	2.3e-14	PFAM
Pfam:Pkinase	44	313	1.5e-35	PFAM
Pfam:CK1gamma_C	331	392	4e-20	PFAM
low complexity region	397	403	N/A	INTRINSIC
low complexity region	414	424	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000130798
AA Change: M242K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000136773

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153391

Predicted Effect

probably damaging
Transcript: ENSMUST00000205379
AA Change: M242K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

unknown
Transcript: ENSMUST00000205884
AA Change: M15K

Predicted Effect

probably damaging
Transcript: ENSMUST00000206528
AA Change: M242K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206594
AA Change: M242K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206048
AA Change: M242K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206969

Predicted Effect

probably benign
Transcript: ENSMUST00000208011

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the casein kinase I gene family. This family is comprised of serine/threonine kinases that phosphorylate acidic proteins such as caseins. The encoded kinase plays a role in cell cycle checkpoint arrest in response to stalled replication forks by phosphorylating Claspin. A mutation in this gene may be associated with non-syndromic early-onset epilepsy (NSEOE). [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	C	A	3: 153,647,607 (GRCm39)	V11F	probably damaging	Het
Alk	A	T	17: 72,209,620 (GRCm39)	Y941*	probably null	Het
Blm	A	T	7: 80,153,125 (GRCm39)		probably null	Het
Blvrb	T	C	7: 27,158,765 (GRCm39)	V55A	possibly damaging	Het
Cdh23	T	A	10: 60,153,721 (GRCm39)	T2288S	probably damaging	Het
Cyp2c29	G	A	19: 39,279,291 (GRCm39)	G96D	possibly damaging	Het
Cyp2d26	T	A	15: 82,676,827 (GRCm39)	H173L	probably benign	Het
Cyp2g1	T	A	7: 26,510,871 (GRCm39)	S131T	probably benign	Het
Dusp29	G	A	14: 21,752,990 (GRCm39)	T52I	probably damaging	Het
Dzip3	T	A	16: 48,758,900 (GRCm39)		probably benign	Het
Espl1	T	C	15: 102,208,274 (GRCm39)	S427P	probably damaging	Het
Fasn	A	T	11: 120,699,006 (GRCm39)	D2424E	probably benign	Het
Flrt2	G	A	12: 95,746,257 (GRCm39)	M198I	probably benign	Het
Gen1	A	T	12: 11,292,576 (GRCm39)	S404R	probably benign	Het
Gm11596	A	T	11: 99,683,806 (GRCm39)	C105S	unknown	Het
Hdlbp	A	T	1: 93,345,233 (GRCm39)	V714D	probably damaging	Het
Igkv4-80	A	G	6: 68,993,816 (GRCm39)	V25A	probably benign	Het
Igkv8-27	C	T	6: 70,148,925 (GRCm39)	W76*	probably null	Het
Ikzf1	T	C	11: 11,698,545 (GRCm39)	L132P	probably damaging	Het
Kcna6	C	A	6: 126,715,443 (GRCm39)	C482F	possibly damaging	Het
Lhx9	A	T	1: 138,769,580 (GRCm39)	L47Q	probably damaging	Het
Lrp4	T	A	2: 91,304,347 (GRCm39)	D175E	probably damaging	Het
Lrrtm3	T	C	10: 63,923,815 (GRCm39)	K451E	probably damaging	Het
Mcm9	C	T	10: 53,417,653 (GRCm39)	V17M	probably damaging	Het
Mios	T	A	6: 8,222,492 (GRCm39)	S475R	probably benign	Het
Mmp24	C	T	2: 155,657,708 (GRCm39)	R533C	probably damaging	Het
Moxd1	C	T	10: 24,158,650 (GRCm39)	P435S	probably damaging	Het
Mta2	T	A	19: 8,927,670 (GRCm39)	I497N	probably benign	Het
Mtus2	T	C	5: 148,014,473 (GRCm39)	V422A	probably benign	Het
Ndufaf1	A	T	2: 119,486,907 (GRCm39)	F260Y	probably damaging	Het
Nfasc	C	T	1: 132,548,662 (GRCm39)		probably null	Het
Nid1	A	T	13: 13,683,305 (GRCm39)	T1128S	probably benign	Het
Odad2	C	T	18: 7,129,461 (GRCm39)	E906K	probably damaging	Het
Or51f1d	A	G	7: 102,701,138 (GRCm39)	D211G	probably benign	Het
Pcdh12	G	A	18: 38,414,746 (GRCm39)	P793L	probably benign	Het
Pclo	A	T	5: 14,726,980 (GRCm39)		probably benign	Het
Prpf31	T	A	7: 3,637,185 (GRCm39)	N161K	possibly damaging	Het
Prpf6	T	G	2: 181,290,878 (GRCm39)	N656K	probably benign	Het
Ptprn	T	A	1: 75,234,813 (GRCm39)	H258L	probably benign	Het
Rab19	A	G	6: 39,366,732 (GRCm39)	T216A	probably benign	Het
Ryr3	A	C	2: 112,664,335 (GRCm39)	L1652W	probably damaging	Het
Six2	A	C	17: 85,992,806 (GRCm39)	S232R	possibly damaging	Het
Spag17	T	C	3: 99,934,707 (GRCm39)	V663A	probably benign	Het
Spag5	A	G	11: 78,195,449 (GRCm39)	N252S	probably benign	Het
Spata31e4	A	T	13: 50,857,113 (GRCm39)	H917L	probably damaging	Het
Sptb	C	T	12: 76,655,810 (GRCm39)		probably null	Het
Synj1	A	G	16: 90,758,253 (GRCm39)		probably benign	Het
Tekt2	T	C	4: 126,218,645 (GRCm39)	H36R	possibly damaging	Het
Tjp1	A	T	7: 64,962,403 (GRCm39)	M1258K	probably damaging	Het
Txnrd3	T	C	6: 89,651,777 (GRCm39)	*502Q	probably null	Het

Other mutations in Csnk1g1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Csnk1g1	APN	9	65,915,028 (GRCm39)	missense	probably damaging	1.00
IGL02073:Csnk1g1	APN	9	65,909,533 (GRCm39)	missense	probably damaging	1.00
R0448:Csnk1g1	UTSW	9	65,888,230 (GRCm39)	missense	possibly damaging	0.92
R0482:Csnk1g1	UTSW	9	65,917,751 (GRCm39)	missense	probably damaging	1.00
R0702:Csnk1g1	UTSW	9	65,917,775 (GRCm39)	missense	probably damaging	1.00
R0726:Csnk1g1	UTSW	9	65,939,637 (GRCm39)	splice site	probably benign
R1736:Csnk1g1	UTSW	9	65,927,197 (GRCm39)	splice site	probably null
R1815:Csnk1g1	UTSW	9	65,939,606 (GRCm39)	missense	probably damaging	1.00
R2063:Csnk1g1	UTSW	9	65,909,512 (GRCm39)	missense	probably damaging	1.00
R4366:Csnk1g1	UTSW	9	65,927,135 (GRCm39)	missense	probably benign	0.02
R4382:Csnk1g1	UTSW	9	65,927,190 (GRCm39)	missense	probably damaging	1.00
R4384:Csnk1g1	UTSW	9	65,927,190 (GRCm39)	missense	probably damaging	1.00
R4385:Csnk1g1	UTSW	9	65,927,190 (GRCm39)	missense	probably damaging	1.00
R6783:Csnk1g1	UTSW	9	65,880,794 (GRCm39)	missense	probably damaging	1.00
R7877:Csnk1g1	UTSW	9	65,906,830 (GRCm39)	critical splice donor site	probably null
R8430:Csnk1g1	UTSW	9	65,906,803 (GRCm39)	missense	probably damaging	1.00
R8477:Csnk1g1	UTSW	9	65,909,555 (GRCm39)	missense	probably damaging	1.00
R8726:Csnk1g1	UTSW	9	65,909,553 (GRCm39)	missense	probably damaging	1.00
R8895:Csnk1g1	UTSW	9	65,915,109 (GRCm39)	critical splice donor site	probably null
R9022:Csnk1g1	UTSW	9	65,917,854 (GRCm39)	critical splice donor site	probably null
R9033:Csnk1g1	UTSW	9	65,915,070 (GRCm39)	missense	probably damaging	1.00
Z1177:Csnk1g1	UTSW	9	65,920,032 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16