Mutagenetix > Incidental Mutation

Incidental Mutation 'R6273:Gsk3b'

507494

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

044443-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R6273 (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 38028408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 289 (T289A)

Ref Sequence

ENSEMBL: ENSMUSP00000110398 (fasta)

Gene Model

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

AlphaFold

Q9WV60

Predicted Effect

probably benign
Transcript: ENSMUST00000023507
AA Change: T289A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000023507
Gene: ENSMUSG00000022812
AA Change: T289A

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
AA Change: T289A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000110398
Gene: ENSMUSG00000022812
AA Change: T289A

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: ENSMUST00000184976

Predicted Effect

unknown
Transcript: ENSMUST00000231437
AA Change: T3A

Meta Mutation Damage Score

0.1199

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

98% (78/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,561 (GRCm39)	I99N	probably damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ankrd31	A	G	13: 96,988,181 (GRCm39)	I1065V	possibly damaging	Het
Aox1	A	G	1: 58,378,831 (GRCm39)	T1027A	probably benign	Het
Atm	G	A	9: 53,399,222 (GRCm39)	P1593L	probably benign	Het
Atp13a5	T	G	16: 29,167,555 (GRCm39)	I132L	probably benign	Het
BC035044	A	G	6: 128,867,852 (GRCm39)		probably benign	Het
Cadm3	CT	C	1: 173,176,691 (GRCm39)		probably benign	Homo
Car3	C	T	3: 14,936,677 (GRCm39)	P247S	probably benign	Het
Ccdc7a	T	C	8: 129,513,819 (GRCm39)	Y160C	probably damaging	Het
Cd1d1	A	G	3: 86,905,564 (GRCm39)	V143A	probably benign	Het
Cemip2	T	A	19: 21,779,369 (GRCm39)	V393E	probably damaging	Het
Cog6	A	T	3: 52,903,473 (GRCm39)	F142I	probably damaging	Het
Cracd	A	T	5: 77,005,568 (GRCm39)	D643V	unknown	Het
Crhr1	T	G	11: 104,054,682 (GRCm39)	N98K	possibly damaging	Het
Csf1	A	G	3: 107,656,479 (GRCm39)	V72A	probably damaging	Het
Cwc15	T	A	9: 14,421,537 (GRCm39)	I201K	probably benign	Het
Dgka	T	C	10: 128,559,515 (GRCm39)	K482R	probably benign	Het
Dnah7b	T	C	1: 46,281,476 (GRCm39)	S2846P	possibly damaging	Het
Dst	T	A	1: 34,314,347 (GRCm39)	I4199N	probably damaging	Het
Dusp7	A	G	9: 106,251,095 (GRCm39)	T407A	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fem1a	T	C	17: 56,564,083 (GRCm39)	Y59H	possibly damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Filip1	A	T	9: 79,723,168 (GRCm39)	D1150E	probably benign	Het
Gabra1	A	G	11: 42,031,138 (GRCm39)	V264A	probably damaging	Het
Gm4131	T	C	14: 62,702,299 (GRCm39)	E223G	probably damaging	Het
Gon4l	T	C	3: 88,763,156 (GRCm39)	V333A	probably damaging	Het
Hmcn2	T	C	2: 31,301,846 (GRCm39)	S2912P	probably damaging	Het
Htr7	A	T	19: 36,018,969 (GRCm39)		probably benign	Het
Ibsp	A	G	5: 104,458,167 (GRCm39)	T235A	probably benign	Het
Ints13	A	T	6: 146,467,179 (GRCm39)	D116E	probably damaging	Het
Irag1	G	T	7: 110,470,790 (GRCm39)	H848N	probably benign	Het
Kctd19	T	C	8: 106,112,117 (GRCm39)	N753S	probably benign	Het
Mdn1	A	G	4: 32,715,979 (GRCm39)	N2054D	probably benign	Het
Mink1	A	T	11: 70,502,261 (GRCm39)	K880*	probably null	Het
Myo15b	T	A	11: 115,753,625 (GRCm39)	L824Q	possibly damaging	Het
Napepld	T	C	5: 21,870,320 (GRCm39)	E366G	probably benign	Het
Obscn	T	A	11: 58,967,819 (GRCm39)	T2662S	possibly damaging	Het
Or2g7	T	G	17: 38,378,686 (GRCm39)	L208R	probably damaging	Het
Or2n1b	T	A	17: 38,459,833 (GRCm39)	M118K	possibly damaging	Het
Or4k52	T	C	2: 111,611,567 (GRCm39)	F301L	probably benign	Het
Or52p1	A	G	7: 104,267,102 (GRCm39)	D72G	probably damaging	Het
Or5b12	A	G	19: 12,896,764 (GRCm39)	V303A	probably benign	Het
Or6d13	A	G	6: 116,518,277 (GRCm39)	T288A	possibly damaging	Het
Pah	T	C	10: 87,412,077 (GRCm39)		probably null	Het
Panx3	T	G	9: 37,578,725 (GRCm39)	I85L	probably benign	Het
Pate4	T	C	9: 35,519,086 (GRCm39)	N94D	probably benign	Het
Pde4d	A	G	13: 110,086,755 (GRCm39)	M610V	possibly damaging	Het
Pik3c2b	T	C	1: 132,994,449 (GRCm39)	S138P	probably benign	Het
Pkn1	T	C	8: 84,398,899 (GRCm39)	N696S	probably damaging	Het
Plppr2	A	G	9: 21,855,801 (GRCm39)	E258G	probably damaging	Het
Plxnd1	A	T	6: 115,955,453 (GRCm39)	M538K	probably damaging	Het
Prepl	G	T	17: 85,390,696 (GRCm39)	N87K	probably benign	Het
Prkag2	C	A	5: 25,152,534 (GRCm39)	R190L	probably damaging	Het
Rara	A	G	11: 98,861,048 (GRCm39)	T179A	probably benign	Het
Rfx7	A	G	9: 72,524,279 (GRCm39)	K490E	possibly damaging	Het
Rgsl1	C	T	1: 153,703,211 (GRCm39)	V147M	possibly damaging	Het
Rph3a	A	G	5: 121,083,485 (GRCm39)	I595T	possibly damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc8a2	T	C	7: 15,879,259 (GRCm39)	F582L	possibly damaging	Het
Sprr2e	A	G	3: 92,260,171 (GRCm39)	M1V	probably null	Het
Steap1	T	A	5: 5,790,827 (GRCm39)	R40S	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Thsd7a	A	T	6: 12,408,835 (GRCm39)	V729E	probably damaging	Het
Tmprss13	A	G	9: 45,256,630 (GRCm39)	Y525C	probably damaging	Het
Tnik	A	T	3: 28,631,649 (GRCm39)	H383L	possibly damaging	Het
Vars1	T	C	17: 35,232,719 (GRCm39)	L881S	probably damaging	Het
Vmn1r201	A	C	13: 22,659,385 (GRCm39)	S200R	probably damaging	Het
Vmn2r130	A	T	17: 23,295,759 (GRCm39)	H643L	probably benign	Het
Vmn2r14	A	T	5: 109,369,133 (GRCm39)	W147R	probably benign	Het
Vps53	T	C	11: 75,992,844 (GRCm39)	E367G	probably benign	Het
Xab2	C	T	8: 3,661,822 (GRCm39)	G544S	probably damaging	Het
Ythdf3	T	A	3: 16,259,020 (GRCm39)	V400E	possibly damaging	Het
Zfand5	C	T	19: 21,257,060 (GRCm39)	P147S	probably benign	Het
Zfp768	A	T	7: 126,944,319 (GRCm39)		probably null	Het
Zswim8	A	G	14: 20,763,521 (GRCm39)	M423V	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
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
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'- ATCATAGAGCATTAGTCTGTGATGG -3'
(R):5'- CCTTCACAGAGAACTGCTGAG -3'

Sequencing Primer
(F):5'- AGAGCATTAGTCTGTGATGGTATAGC -3'
(R):5'- GAGAACTGCTGAGTTTGTAATTGAC -3'

Posted On

2018-03-15