Mutagenetix > Incidental Mutation

Incidental Mutation 'R6431:Gsk3b'

518565

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

044569-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R6431 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37909363-38066446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38014311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 256 (I256M)

Ref Sequence

ENSEMBL: ENSMUSP00000110398 (fasta)

Gene Model

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

AlphaFold

Q9WV60

Predicted Effect

probably damaging
Transcript: ENSMUST00000023507
AA Change: I256M

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

SMART Domains

Protein: ENSMUSP00000023507
Gene: ENSMUSG00000022812
AA Change: I256M

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: I256M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110398
Gene: ENSMUSG00000022812
AA Change: I256M

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

0.4987

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 93.9%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	A	G	16: 35,099,607 (GRCm39)	E719G	probably damaging	Het
Ankdd1a	A	G	9: 65,424,220 (GRCm39)	M31T	possibly damaging	Het
Atp13a5	T	C	16: 29,070,154 (GRCm39)	K911E	possibly damaging	Het
Bpifb3	G	T	2: 153,766,728 (GRCm39)	L210F	probably damaging	Het
Cacna1c	T	C	6: 118,728,334 (GRCm39)	Y211C	probably damaging	Het
Carm1	C	A	9: 21,494,373 (GRCm39)	P297T	probably damaging	Het
Cdh19	A	T	1: 110,852,787 (GRCm39)	Y383N	probably benign	Het
Cfap221	T	C	1: 119,860,583 (GRCm39)	H681R	probably damaging	Het
Cmya5	A	C	13: 93,210,972 (GRCm39)	S3274A	possibly damaging	Het
Cndp2	T	A	18: 84,693,203 (GRCm39)	K186*	probably null	Het
Ctdp1	G	T	18: 80,494,470 (GRCm39)	F310L	probably damaging	Het
Cyp2c55	A	T	19: 39,019,853 (GRCm39)	I264F	probably damaging	Het
Dhx40	A	T	11: 86,664,649 (GRCm39)	F628I	probably damaging	Het
Disc1	T	A	8: 125,862,128 (GRCm39)	M500K	possibly damaging	Het
Dnah5	A	C	15: 28,349,970 (GRCm39)	D2551A	possibly damaging	Het
Esyt1	A	G	10: 128,352,543 (GRCm39)		probably null	Het
Fam78a	T	C	2: 31,972,843 (GRCm39)	S26G	probably damaging	Het
Fn1	G	A	1: 71,687,003 (GRCm39)		probably null	Het
Gbx1	T	C	5: 24,709,916 (GRCm39)	T310A	probably benign	Het
Ggh	T	A	4: 20,042,219 (GRCm39)	C16S	unknown	Het
Gm11595	T	A	11: 99,663,600 (GRCm39)	T27S	unknown	Het
Gm17334	T	A	11: 53,663,564 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,620,711 (GRCm39)	S1166R	probably benign	Het
Hyou1	T	C	9: 44,293,322 (GRCm39)		probably null	Het
Jup	G	T	11: 100,265,167 (GRCm39)	R637S	probably benign	Het
Lama2	T	A	10: 26,929,027 (GRCm39)	I2087F	possibly damaging	Het
Lamc1	T	G	1: 153,097,417 (GRCm39)	K1542N	probably benign	Het
Lgals4	G	T	7: 28,540,117 (GRCm39)			Het
Lrrc8d	A	G	5: 105,959,626 (GRCm39)	D12G	probably damaging	Het
Lrwd1	C	T	5: 136,161,888 (GRCm39)	V207M	possibly damaging	Het
Mbd1	T	A	18: 74,406,762 (GRCm39)		probably null	Het
Msi1	T	A	5: 115,588,984 (GRCm39)	I333N	probably damaging	Het
Neo1	C	T	9: 58,814,354 (GRCm39)	V871I	probably benign	Het
Nr2c1	T	C	10: 94,024,078 (GRCm39)	C428R	probably damaging	Het
Ntm	A	G	9: 29,322,978 (GRCm39)	L14P	probably damaging	Het
Nxpe4	A	T	9: 48,304,145 (GRCm39)	K77N	probably damaging	Het
Or1p1c	A	C	11: 74,160,235 (GRCm39)	T7P	possibly damaging	Het
Or4c119	T	A	2: 88,987,505 (GRCm39)	S5C	probably damaging	Het
Or4f17-ps1	T	A	2: 111,358,001 (GRCm39)	M132K	probably damaging	Het
Or8g30	T	C	9: 39,230,074 (GRCm39)	T279A	possibly damaging	Het
Or8k18	G	A	2: 86,085,702 (GRCm39)	L112F	probably benign	Het
Pappa	T	A	4: 65,074,701 (GRCm39)	D418E	probably damaging	Het
Pde4d	G	A	13: 109,738,320 (GRCm39)		probably null	Het
Pip	A	G	6: 41,828,391 (GRCm39)	N75S	possibly damaging	Het
Plcl1	G	C	1: 55,736,411 (GRCm39)	R584P	probably benign	Het
Pnp	A	T	14: 51,188,471 (GRCm39)	D237V	probably damaging	Het
Ppp1r12a	T	C	10: 108,098,281 (GRCm39)	W857R	probably damaging	Het
Pramel13	T	C	4: 144,119,653 (GRCm39)	T305A	possibly damaging	Het
Ptchd3	A	T	11: 121,727,229 (GRCm39)	M368L	probably benign	Het
Pum1	T	A	4: 130,501,816 (GRCm39)	S868R	probably damaging	Het
R3hdml	A	T	2: 163,344,324 (GRCm39)	S238C	probably damaging	Het
Robo2	G	A	16: 73,843,697 (GRCm39)	R173*	probably null	Het
Sall3	A	G	18: 81,016,402 (GRCm39)	S509P	possibly damaging	Het
Sap130	T	G	18: 31,799,418 (GRCm39)	H298Q	possibly damaging	Het
Selenov	C	A	7: 27,987,458 (GRCm39)	G307C	probably damaging	Het
Setd2	T	A	9: 110,379,453 (GRCm39)	H1089Q	possibly damaging	Het
Setdb2	T	C	14: 59,656,505 (GRCm39)	N287D	probably damaging	Het
Sis	C	T	3: 72,865,507 (GRCm39)	V182I	probably benign	Het
Slc32a1	A	C	2: 158,453,457 (GRCm39)	D99A	probably benign	Het
Slk	A	G	19: 47,609,327 (GRCm39)	D760G	probably damaging	Het
Smg5	T	A	3: 88,258,527 (GRCm39)	D499E	probably benign	Het
Spata31e2	T	A	1: 26,723,111 (GRCm39)	N690Y	probably benign	Het
Stat3	T	C	11: 100,780,400 (GRCm39)	T720A	possibly damaging	Het
Trdn	T	G	10: 33,015,110 (GRCm39)	N21K	probably damaging	Het
Trpm4	A	T	7: 44,975,992 (GRCm39)	V118E	possibly damaging	Het
Vgll3	A	G	16: 65,612,640 (GRCm39)	Q41R	probably damaging	Het
Vmn1r189	A	G	13: 22,286,525 (GRCm39)	V104A	probably damaging	Het
Vmn1r46	A	T	6: 89,953,389 (GRCm39)	R79S	probably benign	Het
Zscan4c	T	C	7: 10,740,856 (GRCm39)	M125T	probably benign	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
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
R8866: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'- ACTCTTTCTCAGGCATACAGAATAG -3'
(R):5'- AGCCTCCTTTCCCACTGTAAAG -3'

Sequencing Primer
(F):5'- CTCAGGCATACAGAATAGGTTTGTG -3'
(R):5'- CCCACTGTAAAGGTATTGCTTTG -3'

Posted On

2018-05-24