Mutagenetix > Incidental Mutation

Incidental Mutation 'R8866:Gsk3b'

675964

Institutional Source

Beutler Lab

Gene Symbol

Gsk3b

Ensembl Gene

ENSMUSG00000022812

Gene Name

glycogen synthase kinase 3 beta

Synonyms

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

MMRRC Submission

068742-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R8866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37909363-38066446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38004900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 157 (Y157C)

Ref Sequence

ENSEMBL: ENSMUSP00000023507 (fasta)

Gene Model

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

AlphaFold

Q9WV60

PDB Structure

Crystal structure of a transition state mimic of the GSK-3/Axin complex bound to phosphorylated N-terminal auto-inhibitory pS9 peptide [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000023507
AA Change: Y157C

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

SMART Domains

Protein: ENSMUSP00000023507
Gene: ENSMUSG00000022812
AA Change: Y157C

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 damaging
Transcript: ENSMUST00000114750
AA Change: Y157C

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

SMART Domains

Protein: ENSMUSP00000110398
Gene: ENSMUSG00000022812
AA Change: Y157C

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 59,914,511 (GRCm39)	T38I	probably benign	Het
Arhgap1	G	T	2: 91,499,744 (GRCm39)	S293I	probably benign	Het
Arhgap45	C	A	10: 79,853,750 (GRCm39)	P88Q	probably damaging	Het
Atg9a	A	C	1: 75,161,867 (GRCm39)	F560V	probably damaging	Het
Btaf1	T	A	19: 36,935,901 (GRCm39)	N230K	probably benign	Het
Ccne1	A	C	7: 37,800,046 (GRCm39)	H179Q	probably benign	Het
Dbr1	T	A	9: 99,460,497 (GRCm39)	L109*	probably null	Het
Dchs1	G	T	7: 105,404,597 (GRCm39)	N2648K	probably benign	Het
Ddx47	A	G	6: 135,000,356 (GRCm39)	K451E	probably benign	Het
Dlgap1	A	T	17: 70,823,435 (GRCm39)	H140L	probably damaging	Het
Dnah11	T	A	12: 118,156,107 (GRCm39)	H181L	probably benign	Het
Dync1h1	T	C	12: 110,602,333 (GRCm39)	C2074R	probably damaging	Het
Ell2	A	T	13: 75,917,793 (GRCm39)	Q574H	probably damaging	Het
Eloa	A	C	4: 135,737,538 (GRCm39)		probably null	Het
Epha7	A	G	4: 28,821,614 (GRCm39)	I260V	probably benign	Het
Fbp2	T	C	13: 62,989,709 (GRCm39)	K199R	probably benign	Het
Fetub	A	T	16: 22,758,321 (GRCm39)	E368V	possibly damaging	Het
Fsip2	A	G	2: 82,810,521 (GRCm39)	Q2280R	probably benign	Het
Fstl4	A	G	11: 52,963,233 (GRCm39)	E205G	possibly damaging	Het
Gm5592	A	T	7: 40,938,246 (GRCm39)	R509S	possibly damaging	Het
Gpld1	A	G	13: 25,170,890 (GRCm39)	T794A	probably benign	Het
Hgs	A	G	11: 120,360,464 (GRCm39)	N54S	probably benign	Het
Hydin	G	A	8: 111,308,779 (GRCm39)	V4022M	possibly damaging	Het
Kank1	T	C	19: 25,388,702 (GRCm39)	S792P	possibly damaging	Het
Kctd4	A	G	14: 76,200,465 (GRCm39)	I145M	probably benign	Het
Klra5	A	T	6: 129,880,533 (GRCm39)	W212R	probably damaging	Het
Lrp6	A	T	6: 134,445,785 (GRCm39)	N1009K	probably benign	Het
Lrrc10	T	A	10: 116,881,858 (GRCm39)	N177K	probably damaging	Het
Lrrc39	T	A	3: 116,363,790 (GRCm39)	I121N	probably damaging	Het
Mov10l1	A	T	15: 88,896,169 (GRCm39)	D671V	probably benign	Het
Ndel1	A	G	11: 68,734,645 (GRCm39)		probably null	Het
Or10g3	A	T	14: 52,610,196 (GRCm39)	Y105N	probably damaging	Het
Or1e27-ps1	A	G	11: 73,555,825 (GRCm39)	Y130C	probably damaging	Het
Or1e32	A	T	11: 73,705,237 (GRCm39)	S224T	probably damaging	Het
Or51a43	A	T	7: 103,718,119 (GRCm39)	S40T	probably damaging	Het
Otop2	A	G	11: 115,220,354 (GRCm39)	D398G	probably benign	Het
Pkd1	T	C	17: 24,792,051 (GRCm39)	V1246A	probably damaging	Het
Polr3b	T	A	10: 84,531,555 (GRCm39)	D810E	probably benign	Het
Ppl	T	A	16: 4,920,211 (GRCm39)	T395S	probably benign	Het
Ptprm	G	A	17: 67,116,630 (GRCm39)	A883V	probably benign	Het
Rapgef6	G	A	11: 54,443,700 (GRCm39)		probably null	Het
Rbm12	A	T	2: 155,938,693 (GRCm39)	Y526*	probably null	Het
Rbm15b	C	T	9: 106,763,595 (GRCm39)	R191Q	probably benign	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,229,120 (GRCm39)		probably benign	Het
Rxylt1	A	G	10: 121,924,953 (GRCm39)	Y250H	probably damaging	Het
Serpinb6c	A	T	13: 34,083,309 (GRCm39)	I35N	probably damaging	Het
Setd4	A	G	16: 93,386,961 (GRCm39)	F246L	probably damaging	Het
Shank2	A	G	7: 143,964,986 (GRCm39)	S865G	probably benign	Het
Skint6	T	C	4: 112,711,650 (GRCm39)	N956D	probably benign	Het
Slc30a3	C	A	5: 31,245,325 (GRCm39)	V332F	possibly damaging	Het
Smg1	A	G	7: 117,806,122 (GRCm39)	S240P	unknown	Het
Tank	T	A	2: 61,409,005 (GRCm39)	S7R	probably benign	Het
Tecpr1	T	C	5: 144,153,117 (GRCm39)	E204G	possibly damaging	Het
Tmem74	A	G	15: 43,730,231 (GRCm39)	S271P	probably damaging	Het
Tor4a	T	C	2: 25,084,965 (GRCm39)	M313V	probably benign	Het
Tpd52l2	A	G	2: 181,154,861 (GRCm39)	D192G	probably damaging	Het
Trim29	T	C	9: 43,222,945 (GRCm39)	V258A	probably damaging	Het
Ttc39c	A	T	18: 12,831,003 (GRCm39)	S288C	probably benign	Het
Ttn	T	C	2: 76,592,675 (GRCm39)	E20819G	probably damaging	Het
Twnk	C	T	19: 45,000,272 (GRCm39)	Q663*	probably null	Het
Ucn	T	A	5: 31,295,857 (GRCm39)	Q3L	probably benign	Het
Unc80	G	A	1: 66,629,388 (GRCm39)	G1295E	probably benign	Het
Usp9y	C	T	Y: 1,395,758 (GRCm39)	R492H	probably damaging	Het
Vars1	T	C	17: 35,234,620 (GRCm39)	S1150P	probably benign	Het
Vwa5b1	T	G	4: 138,327,628 (GRCm39)	E316A	probably damaging	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp839	A	G	12: 110,834,848 (GRCm39)	E701G	probably benign	Het
Zfp931	A	T	2: 177,710,178 (GRCm39)	C69*	probably null	Het

Other mutations in Gsk3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Gsk3b	APN	16	38,049,069 (GRCm39)	missense	probably benign
IGL01302:Gsk3b	APN	16	38,040,380 (GRCm39)	missense	probably benign	0.01
blue_bunny	UTSW	16	38,028,498 (GRCm39)	intron	probably benign
PIT4402001:Gsk3b	UTSW	16	37,909,763 (GRCm39)	unclassified	probably benign
PIT4585001:Gsk3b	UTSW	16	38,004,816 (GRCm39)	missense	probably damaging	1.00
R0670:Gsk3b	UTSW	16	37,964,678 (GRCm39)	missense	probably damaging	1.00
R1118:Gsk3b	UTSW	16	38,028,346 (GRCm39)	unclassified	probably benign
R1119:Gsk3b	UTSW	16	38,028,346 (GRCm39)	unclassified	probably benign
R1428:Gsk3b	UTSW	16	37,910,937 (GRCm39)	missense	probably benign	0.01
R1897:Gsk3b	UTSW	16	38,037,446 (GRCm39)	splice site	probably null
R2056:Gsk3b	UTSW	16	38,008,271 (GRCm39)	missense	probably benign
R2058:Gsk3b	UTSW	16	38,008,271 (GRCm39)	missense	probably benign
R2059:Gsk3b	UTSW	16	38,008,271 (GRCm39)	missense	probably benign
R4428:Gsk3b	UTSW	16	38,014,298 (GRCm39)	missense	probably damaging	1.00
R4594:Gsk3b	UTSW	16	37,991,063 (GRCm39)	missense	possibly damaging	0.92
R5133:Gsk3b	UTSW	16	38,060,882 (GRCm39)	missense	probably damaging	0.99
R5134:Gsk3b	UTSW	16	38,060,882 (GRCm39)	missense	probably damaging	0.99
R5726:Gsk3b	UTSW	16	38,028,498 (GRCm39)	intron	probably benign
R5957:Gsk3b	UTSW	16	38,014,315 (GRCm39)	missense	probably damaging	1.00
R6273:Gsk3b	UTSW	16	38,028,408 (GRCm39)	missense	probably benign	0.00
R6431:Gsk3b	UTSW	16	38,014,311 (GRCm39)	missense	probably damaging	0.99
R8344:Gsk3b	UTSW	16	38,011,987 (GRCm39)	missense	probably benign	0.07
R8855:Gsk3b	UTSW	16	38,004,900 (GRCm39)	missense	probably damaging	1.00
Z1176:Gsk3b	UTSW	16	38,028,432 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAGGTGCATTTGTTCAGCTCTATTC -3'
(R):5'- AGAGGACTCCATGCTATAAAACTG -3'

Sequencing Primer
(F):5'- GAGGTGTATAGAAAATTTGCTCTCAC -3'
(R):5'- GACTCCATGCTATAAAACTGTGTAAG -3'

Posted On

2021-07-15