Mutagenetix > Incidental Mutation

Incidental Mutation 'R4594:Gsk3b'

344291

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

MMRRC Submission

041810-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38089001-38246084 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38170701 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 107 (C107Y)

Ref Sequence

ENSEMBL: ENSMUSP00000110398 (fasta)

Gene Model

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

AlphaFold

Q9WV60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023507
AA Change: C107Y

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023507
Gene: ENSMUSG00000022812
AA Change: C107Y

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

possibly damaging
Transcript: ENSMUST00000114750
AA Change: C107Y

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110398
Gene: ENSMUSG00000022812
AA Change: C107Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134870

Meta Mutation Damage Score

0.2362

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,575,754 (GRCm38)	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,860,538 (GRCm38)	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,921,447 (GRCm38)	I264N	probably damaging	Het
Alpk1	G	A	3: 127,683,554 (GRCm38)	A285V	probably damaging	Het
Auh	T	C	13: 52,912,966 (GRCm38)		probably benign	Het
BC030499	T	A	11: 78,291,647 (GRCm38)	V94D	possibly damaging	Het
Cacna2d3	A	G	14: 28,982,346 (GRCm38)	F826S	probably benign	Het
Ccdc54	G	T	16: 50,590,017 (GRCm38)	Y295*	probably null	Het
Ctnna3	G	A	10: 64,586,079 (GRCm38)	V551I	probably benign	Het
Diaph3	C	T	14: 86,986,037 (GRCm38)	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842 (GRCm38)		probably benign	Het
Dscam	A	T	16: 96,717,996 (GRCm38)	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,671,266 (GRCm38)	F243S	probably damaging	Het
Fat2	T	C	11: 55,284,752 (GRCm38)	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 25,573,836 (GRCm38)	V793A	probably damaging	Het
Got2	T	C	8: 95,872,186 (GRCm38)	E196G	probably benign	Het
H2-M5	T	C	17: 36,987,805 (GRCm38)	T250A	possibly damaging	Het
Il17f	T	A	1: 20,777,802 (GRCm38)	T151S	probably damaging	Het
Ints12	A	G	3: 133,108,868 (GRCm38)	N279D	probably benign	Het
Kcnd3	C	T	3: 105,658,766 (GRCm38)	A421V	probably damaging	Het
Kynu	T	A	2: 43,679,890 (GRCm38)	S395T	probably benign	Het
Llgl1	C	T	11: 60,706,321 (GRCm38)	T226I	probably benign	Het
Mael	T	A	1: 166,235,487 (GRCm38)	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,018,652 (GRCm38)	R49S	probably benign	Het
Meioc	G	T	11: 102,674,166 (GRCm38)	G203C	probably damaging	Het
Mfsd4b1	A	G	10: 40,007,317 (GRCm38)	S46P	probably benign	Het
Muc6	G	T	7: 141,638,772 (GRCm38)	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,547,432 (GRCm38)	Y268*	probably null	Het
Myom1	A	G	17: 71,100,074 (GRCm38)	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,392,847 (GRCm38)		probably null	Het
Nfe2	A	G	15: 103,248,805 (GRCm38)	L253S	probably damaging	Het
Nup205	T	C	6: 35,196,489 (GRCm38)	I478T	probably benign	Het
Nxpe2	T	C	9: 48,319,482 (GRCm38)	D529G	probably damaging	Het
Oard1	T	C	17: 48,415,239 (GRCm38)	S88P	possibly damaging	Het
Olfr1370	C	T	13: 21,072,522 (GRCm38)	V260I	probably benign	Het
Olfr231	G	T	1: 174,117,320 (GRCm38)	T232N	probably damaging	Het
Olfr639	T	C	7: 104,012,417 (GRCm38)	D95G	probably benign	Het
Olfr678	T	C	7: 105,069,590 (GRCm38)	V41A	probably benign	Het
Olfr732	G	A	14: 50,281,683 (GRCm38)	T190I	probably benign	Het
Olfr741	A	G	14: 50,486,162 (GRCm38)	R235G	probably benign	Het
Olfr906	A	C	9: 38,488,761 (GRCm38)	H244P	probably damaging	Het
Osgin1	C	T	8: 119,445,253 (GRCm38)	T262I	possibly damaging	Het
Plcb4	A	T	2: 136,002,599 (GRCm38)	M146L	probably damaging	Het
Prkdc	A	T	16: 15,767,966 (GRCm38)	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,206,196 (GRCm38)	A1004V	probably damaging	Het
Rab15	G	A	12: 76,800,671 (GRCm38)		probably benign	Het
Rad51ap2	T	C	12: 11,457,880 (GRCm38)	V601A	probably benign	Het
Rasef	T	A	4: 73,780,389 (GRCm38)	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,394,567 (GRCm38)	N139K	probably damaging	Het
Rexo2	A	T	9: 48,480,417 (GRCm38)	V46E	probably damaging	Het
Slmap	A	T	14: 26,465,617 (GRCm38)	L68H	probably damaging	Het
Speer3	C	G	5: 13,796,380 (GRCm38)	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,435,068 (GRCm38)	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,836,948 (GRCm38)	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,086,435 (GRCm38)	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,073,969 (GRCm38)	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,393,662 (GRCm38)	D548V	probably damaging	Het
Wdr81	T	C	11: 75,445,794 (GRCm38)	N1590D	probably benign	Het
Zbtb6	A	T	2: 37,429,042 (GRCm38)	N291K	possibly damaging	Het
Zfp119a	G	A	17: 55,866,325 (GRCm38)	R173C	probably benign	Het
Zmynd15	T	C	11: 70,464,182 (GRCm38)	L335P	probably damaging	Het

Other mutations in Gsk3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Gsk3b	APN	16	38,228,707 (GRCm38)	missense	probably benign
IGL01302:Gsk3b	APN	16	38,220,018 (GRCm38)	missense	probably benign	0.01
blue_bunny	UTSW	16	38,208,136 (GRCm38)	intron	probably benign
PIT4402001:Gsk3b	UTSW	16	38,089,401 (GRCm38)	unclassified	probably benign
PIT4585001:Gsk3b	UTSW	16	38,184,454 (GRCm38)	missense	probably damaging	1.00
R0670:Gsk3b	UTSW	16	38,144,316 (GRCm38)	missense	probably damaging	1.00
R1118:Gsk3b	UTSW	16	38,207,984 (GRCm38)	unclassified	probably benign
R1119:Gsk3b	UTSW	16	38,207,984 (GRCm38)	unclassified	probably benign
R1428:Gsk3b	UTSW	16	38,090,575 (GRCm38)	missense	probably benign	0.01
R1897:Gsk3b	UTSW	16	38,217,084 (GRCm38)	splice site	probably null
R2056:Gsk3b	UTSW	16	38,187,909 (GRCm38)	missense	probably benign
R2058:Gsk3b	UTSW	16	38,187,909 (GRCm38)	missense	probably benign
R2059:Gsk3b	UTSW	16	38,187,909 (GRCm38)	missense	probably benign
R4428:Gsk3b	UTSW	16	38,193,936 (GRCm38)	missense	probably damaging	1.00
R5133:Gsk3b	UTSW	16	38,240,520 (GRCm38)	missense	probably damaging	0.99
R5134:Gsk3b	UTSW	16	38,240,520 (GRCm38)	missense	probably damaging	0.99
R5726:Gsk3b	UTSW	16	38,208,136 (GRCm38)	intron	probably benign
R5957:Gsk3b	UTSW	16	38,193,953 (GRCm38)	missense	probably damaging	1.00
R6273:Gsk3b	UTSW	16	38,208,046 (GRCm38)	missense	probably benign	0.00
R6431:Gsk3b	UTSW	16	38,193,949 (GRCm38)	missense	probably damaging	0.99
R8344:Gsk3b	UTSW	16	38,191,625 (GRCm38)	missense	probably benign	0.07
R8855:Gsk3b	UTSW	16	38,184,538 (GRCm38)	missense	probably damaging	1.00
R8866:Gsk3b	UTSW	16	38,184,538 (GRCm38)	missense	probably damaging	1.00
Z1176:Gsk3b	UTSW	16	38,208,070 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACACGCCTACTGAGTTCATC -3'
(R):5'- ACCATCAGCTGTGTATCTTGGG -3'

Sequencing Primer
(F):5'- GGTAAGTCAGATCTTAACTTCACCTG -3'
(R):5'- CAGCTGTGTATCTTGGGTTCAGAATC -3'

Posted On

2015-09-25