Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02379:Csnk1g3'

291262

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Csnk1g3

Ensembl Gene

ENSMUSG00000073563

Gene Name

casein kinase 1, gamma 3

Synonyms

C330049O21Rik, 3300002K07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02379

Quality Score

Status

Chromosome

Chromosomal Location

53995194-54088620 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54066564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 346 (S346P)

Ref Sequence

ENSEMBL: ENSMUSP00000070259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069597]

AlphaFold

Q8C4X2

Predicted Effect

probably benign
Transcript: ENSMUST00000069597
AA Change: S346P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000070259
Gene: ENSMUSG00000073563
AA Change: S346P

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	19	35	N/A	INTRINSIC
Pfam:Pkinase	43	304	1.2e-27	PFAM
Pfam:Pkinase_Tyr	43	306	8.9e-16	PFAM
Pfam:CK1gamma_C	329	362	8.7e-9	PFAM
Pfam:CK1gamma_C	358	386	1.2e-12	PFAM

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 a family of serine/threonine protein kinases that phosphorylate caseins and other acidic proteins. A related protein in the African clawed frog participates in the transmission of Wnt/beta-catenin signaling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,760,106 (GRCm39)	I996F	probably damaging	Het
Adamts9	T	A	6: 92,774,014 (GRCm39)	D1133V	probably damaging	Het
Adi1	T	A	12: 28,729,466 (GRCm39)	D106E	probably damaging	Het
Agl	A	G	3: 116,572,740 (GRCm39)	F837S	probably damaging	Het
Alb	T	A	5: 90,613,738 (GRCm39)	D207E	probably benign	Het
Alms1	T	G	6: 85,606,615 (GRCm39)	V2286G	probably damaging	Het
Alpl	G	A	4: 137,469,869 (GRCm39)	A485V	probably damaging	Het
Antxrl	C	A	14: 33,778,492 (GRCm39)		probably null	Het
Apc	C	T	18: 34,431,798 (GRCm39)	T417I	probably benign	Het
Ash2l	T	C	8: 26,312,799 (GRCm39)	D390G	probably damaging	Het
Asph	G	A	4: 9,474,980 (GRCm39)	P582S	probably damaging	Het
Bcr	T	A	10: 74,992,980 (GRCm39)	L825Q	probably benign	Het
Bhlha15	T	A	5: 144,128,159 (GRCm39)	N90K	probably damaging	Het
Cgnl1	T	A	9: 71,552,835 (GRCm39)	Y1043F	possibly damaging	Het
Chek1	T	C	9: 36,635,242 (GRCm39)	D47G	probably benign	Het
Clca4b	T	A	3: 144,627,619 (GRCm39)	M451L	probably benign	Het
Cspg4	G	T	9: 56,799,893 (GRCm39)		probably benign	Het
Ctr9	A	G	7: 110,650,726 (GRCm39)	K884E	probably damaging	Het
Cyld	T	A	8: 89,471,556 (GRCm39)	C813*	probably null	Het
Fn3k	A	T	11: 121,325,950 (GRCm39)	T46S	probably benign	Het
Foxred1	T	C	9: 35,121,282 (GRCm39)	R89G	probably benign	Het
Gpr174	T	C	X: 106,337,084 (GRCm39)	F299L	probably damaging	Het
Hdac7	T	C	15: 97,706,266 (GRCm39)	D312G	probably damaging	Het
Il36b	A	G	2: 24,044,650 (GRCm39)	S17G	probably benign	Het
Kcna5	G	T	6: 126,511,472 (GRCm39)	P219T	probably damaging	Het
Kcnh2	A	C	5: 24,531,636 (GRCm39)	V425G	probably damaging	Het
Klk1b5	A	G	7: 43,500,246 (GRCm39)	N278S	probably damaging	Het
Mars2	T	A	1: 55,277,212 (GRCm39)	W272R	probably damaging	Het
Msl3l2	C	A	10: 55,992,017 (GRCm39)	S247R	possibly damaging	Het
Myh7	T	C	14: 55,216,925 (GRCm39)	E1144G	probably damaging	Het
Nefm	T	C	14: 68,357,688 (GRCm39)		probably benign	Het
Nwd2	A	G	5: 63,962,644 (GRCm39)	K743E	probably damaging	Het
Nyap2	C	T	1: 81,065,147 (GRCm39)	T53I	probably damaging	Het
Odad4	A	T	11: 100,457,809 (GRCm39)	N471Y	possibly damaging	Het
Or10ag58	T	C	2: 87,265,668 (GRCm39)	V279A	probably benign	Het
Or52z12	T	C	7: 103,234,099 (GRCm39)	V290A	possibly damaging	Het
Peli2	A	G	14: 48,405,755 (GRCm39)	H60R	probably damaging	Het
Pias2	T	A	18: 77,232,844 (GRCm39)		probably benign	Het
Pik3c2b	A	G	1: 133,022,529 (GRCm39)	D1157G	probably damaging	Het
Pip4k2a	C	T	2: 18,870,922 (GRCm39)		probably null	Het
Raf1	A	T	6: 115,621,509 (GRCm39)	D23E	probably benign	Het
Rhox10	G	A	X: 37,155,733 (GRCm39)	R87H	probably benign	Het
Rpgrip1	A	G	14: 52,376,345 (GRCm39)	T449A	possibly damaging	Het
Serpina3a	T	A	12: 104,084,919 (GRCm39)	S105T	probably benign	Het
Slc12a9	T	G	5: 137,319,691 (GRCm39)	Q608P	probably damaging	Het
Smg6	C	A	11: 74,944,751 (GRCm39)	P167T	probably damaging	Het
Spata7	C	T	12: 98,600,519 (GRCm39)	T44I	probably damaging	Het
Spink12	C	T	18: 44,239,575 (GRCm39)		probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stag2	C	T	X: 41,339,474 (GRCm39)	T754I	probably benign	Het
Supt6	C	T	11: 78,116,195 (GRCm39)	V723M	possibly damaging	Het
Ubr3	A	G	2: 69,778,832 (GRCm39)	D614G	possibly damaging	Het
Vps39	T	A	2: 120,154,089 (GRCm39)	K624N	probably benign	Het
Vwa5b1	A	T	4: 138,340,170 (GRCm39)	L29Q	probably damaging	Het
Wtap	G	A	17: 13,188,336 (GRCm39)	A188V	probably benign	Het
Zc3hc1	A	G	6: 30,390,974 (GRCm39)	F5L	probably benign	Het
Zfp655	C	T	5: 145,180,765 (GRCm39)	P208S	probably benign	Het
Zswim3	A	T	2: 164,662,602 (GRCm39)		probably null	Het

Other mutations in Csnk1g3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Csnk1g3	APN	18	54,052,075 (GRCm39)	missense	probably damaging	1.00
IGL02148:Csnk1g3	APN	18	54,086,360 (GRCm39)	missense	probably benign	0.11
IGL02447:Csnk1g3	APN	18	54,028,942 (GRCm39)	missense	probably benign	0.26
IGL03172:Csnk1g3	APN	18	54,086,356 (GRCm39)	missense	possibly damaging	0.48
R0153:Csnk1g3	UTSW	18	54,051,861 (GRCm39)	splice site	probably benign
R0606:Csnk1g3	UTSW	18	54,050,100 (GRCm39)	missense	probably damaging	1.00
R1399:Csnk1g3	UTSW	18	54,028,982 (GRCm39)	missense	probably damaging	0.97
R1435:Csnk1g3	UTSW	18	54,039,746 (GRCm39)	splice site	probably null
R4829:Csnk1g3	UTSW	18	54,028,895 (GRCm39)	missense	possibly damaging	0.85
R5552:Csnk1g3	UTSW	18	54,065,355 (GRCm39)	missense	probably benign	0.04
R6305:Csnk1g3	UTSW	18	54,065,384 (GRCm39)	nonsense	probably null
R6556:Csnk1g3	UTSW	18	54,063,354 (GRCm39)	missense	possibly damaging	0.82
R7324:Csnk1g3	UTSW	18	54,052,090 (GRCm39)	missense	probably damaging	1.00
R7401:Csnk1g3	UTSW	18	54,063,390 (GRCm39)	missense	probably damaging	1.00
R7545:Csnk1g3	UTSW	18	54,028,897 (GRCm39)	missense	probably damaging	0.97
R7846:Csnk1g3	UTSW	18	54,081,177 (GRCm39)	missense	probably benign	0.03
R7968:Csnk1g3	UTSW	18	54,028,726 (GRCm39)	start gained	probably benign
R8215:Csnk1g3	UTSW	18	54,081,151 (GRCm39)	missense	probably benign	0.04
R8390:Csnk1g3	UTSW	18	54,081,150 (GRCm39)	missense	probably benign	0.09
R8400:Csnk1g3	UTSW	18	54,086,360 (GRCm39)	missense	probably benign	0.11

Posted On

2015-04-16