Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4402001:Gsk3b'

555547

Institutional Source

Beutler Lab

Gene Symbol

Gsk3b

Ensembl Gene

ENSMUSG00000022812

Gene Name

glycogen synthase kinase 3 beta

Synonyms

GSK-3beta, 7330414F15Rik, GSK3, GSK-3, 8430431H08Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.928) question?

Stock #

PIT4402001 (G1)

Quality Score

97.0078

Status

Not validated

Chromosome

Chromosomal Location

38089001-38246084 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 38089401 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023507] [ENSMUST00000114750]

Predicted Effect

probably benign
Transcript: ENSMUST00000023507

SMART Domains

Protein: ENSMUSP00000023507
Gene: ENSMUSG00000022812

Domain	Start	End	E-Value	Type
S_TKc	56	340	1.72e-86	SMART
low complexity region	386	402	N/A	INTRINSIC
low complexity region	409	419	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114750

SMART Domains

Protein: ENSMUSP00000110398
Gene: ENSMUSG00000022812

Domain	Start	End	E-Value	Type
S_TKc	56	353	1.13e-86	SMART
low complexity region	399	415	N/A	INTRINSIC
low complexity region	422	432	N/A	INTRINSIC

Coding Region Coverage

1x: 92.8%
3x: 90.3%
10x: 83.2%
20x: 68.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine-threonine kinase, belonging to the glycogen synthase kinase subfamily. It is involved in energy metabolism, neuronal cell development, and body pattern formation. Polymorphisms in this gene have been implicated in modifying risk of Parkinson disease, and studies in mice show that overexpression of this gene may be relevant to the pathogenesis of Alzheimer disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene may die embryonically around mid-gestation or neonatally. When mice die neonatally, cleft palate and sternum are present. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	G	14: 59,142,635	L71F	probably damaging	Het
Adamts9	C	T	6: 92,872,347	V1044I	probably benign	Het
Alcam	T	C	16: 52,295,134	Y207C	probably damaging	Het
Aldh4a1	C	A	4: 139,642,191	S351*	probably null	Het
Aoah	C	A	13: 20,794,510	S39R	probably benign	Het
Arcn1	A	T	9: 44,745,602	V421E	possibly damaging	Het
Ccdc18	A	G	5: 108,158,619	E300G	possibly damaging	Het
Cdk2ap2	C	A	19: 4,098,557	R126S	probably damaging	Het
Dcun1d4	A	G	5: 73,510,933	I39V	probably benign	Het
Fam53b	A	T	7: 132,760,017	I94N	probably damaging	Het
Fam83g	A	G	11: 61,703,596	H652R	probably damaging	Het
Fanca	A	T	8: 123,313,064	M157K	possibly damaging	Het
Flt1	A	T	5: 147,678,239	I299N	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,667,016		probably null	Het
Gns	A	G	10: 121,376,706	Y191C	probably damaging	Het
Grin2a	T	C	16: 9,644,199	T690A	possibly damaging	Het
Igsf10	A	G	3: 59,325,579	V1911A	probably benign	Het
Igsf3	A	G	3: 101,427,077	K157E	probably benign	Het
Inpp5a	T	C	7: 139,511,453	Y118H	probably benign	Het
Kmt2a	A	G	9: 44,841,062	V1413A	unknown	Het
Mettl9	T	A	7: 121,057,217	V190E	probably damaging	Het
Mrps9	T	C	1: 42,896,098	L188P	probably benign	Het
Myo9a	A	T	9: 59,870,436	R1158S	possibly damaging	Het
Nacad	T	G	11: 6,598,621	Q1371P	probably benign	Het
Ncoa1	T	C	12: 4,294,987	M787V	probably benign	Het
Noxred1	A	T	12: 87,227,081	I62K	probably benign	Het
Olfr1390	A	G	11: 49,341,399	Y289C	probably damaging	Het
Olfr1532-ps1	T	A	7: 106,915,087	D296E	possibly damaging	Het
Olfr350	A	T	2: 36,850,304	H86L	probably benign	Het
Olfr646	A	G	7: 104,106,450	Y57C	probably damaging	Het
Otud6b	A	G	4: 14,818,185	Y239H	probably damaging	Het
Pank1	A	G	19: 34,840,966	Y233H	probably damaging	Het
Pccb	G	T	9: 100,995,592	D286E	probably benign	Het
Plek	A	C	11: 16,990,121	L196R	probably benign	Het
Pou6f2	T	C	13: 18,125,346	H576R		Het
Rbm47	T	A	5: 66,027,011	Y83F	probably damaging	Het
Rbm6	A	T	9: 107,787,850	Y787N	probably damaging	Het
Slc8a2	C	A	7: 16,134,494	A217E	probably damaging	Het
Suox	G	A	10: 128,671,295	A288V	probably damaging	Het
Tbccd1	T	C	16: 22,822,123	I501M	probably damaging	Het
Tjp2	C	A	19: 24,098,129	G1042*	probably null	Het
Tmtc2	T	C	10: 105,413,407	Y155C	probably damaging	Het
Usp7	T	C	16: 8,698,495	N600S	probably benign	Het
Zer1	T	C	2: 30,101,120	I699V	probably damaging	Het
Zfp142	A	G	1: 74,579,528	F227S	probably damaging	Het

Other mutations in Gsk3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Gsk3b	APN	16	38228707	missense	probably benign
IGL01302:Gsk3b	APN	16	38220018	missense	probably benign	0.01
blue_bunny	UTSW	16	38208136	intron	probably benign
PIT4585001:Gsk3b	UTSW	16	38184454	missense	probably damaging	1.00
R0670:Gsk3b	UTSW	16	38144316	missense	probably damaging	1.00
R1118:Gsk3b	UTSW	16	38207984	unclassified	probably benign
R1119:Gsk3b	UTSW	16	38207984	unclassified	probably benign
R1428:Gsk3b	UTSW	16	38090575	missense	probably benign	0.01
R1897:Gsk3b	UTSW	16	38217084	splice site	probably null
R2056:Gsk3b	UTSW	16	38187909	missense	probably benign
R2058:Gsk3b	UTSW	16	38187909	missense	probably benign
R2059:Gsk3b	UTSW	16	38187909	missense	probably benign
R4428:Gsk3b	UTSW	16	38193936	missense	probably damaging	1.00
R4594:Gsk3b	UTSW	16	38170701	missense	possibly damaging	0.92
R5133:Gsk3b	UTSW	16	38240520	missense	probably damaging	0.99
R5134:Gsk3b	UTSW	16	38240520	missense	probably damaging	0.99
R5726:Gsk3b	UTSW	16	38208136	intron	probably benign
R5957:Gsk3b	UTSW	16	38193953	missense	probably damaging	1.00
R6273:Gsk3b	UTSW	16	38208046	missense	probably benign	0.00
R6431:Gsk3b	UTSW	16	38193949	missense	probably damaging	0.99
R8344:Gsk3b	UTSW	16	38191625	missense	probably benign	0.07
Z1176:Gsk3b	UTSW	16	38208070	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTTCGGCTACCTTCGGCATT -3'
(R):5'- CTCTCCTCATTGCGCCAGGA -3'

Sequencing Primer
(F):5'- CATTCCTCGTTGCTGGGGC -3'
(R):5'- TTTGTCACTCGGCCCAGG -3'

Posted On

2019-06-07