Mutagenetix > Incidental Mutation

Incidental Mutation 'R0715:Gsk3a'

62814

Institutional Source

Beutler Lab

Gene Symbol

Gsk3a

Ensembl Gene

ENSMUSG00000057177

Gene Name

glycogen synthase kinase 3 alpha

Synonyms

2700086H06Rik

MMRRC Submission

038898-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0715 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

24927683-24937276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24931134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 277 (V277A)

Ref Sequence

ENSEMBL: ENSMUSP00000104049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055604] [ENSMUST00000071739] [ENSMUST00000108411]

AlphaFold

Q2NL51

Predicted Effect

probably benign
Transcript: ENSMUST00000055604

SMART Domains

Protein: ENSMUSP00000053567
Gene: ENSMUSG00000046541

Domain	Start	End	E-Value	Type
ZnF_C2H2	56	78	1.41e0	SMART
low complexity region	79	90	N/A	INTRINSIC
ZnF_C2H2	108	130	9.46e0	SMART
ZnF_C2H2	140	163	4.65e-1	SMART
low complexity region	171	193	N/A	INTRINSIC
ZnF_C2H2	200	222	4.72e-2	SMART
coiled coil region	234	254	N/A	INTRINSIC
ZnF_C2H2	280	303	1.26e1	SMART
ZnF_C2H2	312	334	3.29e-1	SMART
ZnF_C2H2	339	361	6.78e-3	SMART
ZnF_C2H2	367	389	4.65e-1	SMART
ZnF_C2H2	395	416	3.56e1	SMART
ZnF_C2H2	447	470	8.47e-4	SMART
ZnF_C2H2	477	499	2.05e-2	SMART
ZnF_C2H2	505	527	2.09e-3	SMART
ZnF_C2H2	533	555	5.99e-4	SMART
ZnF_C2H2	578	600	8.22e-2	SMART
low complexity region	610	624	N/A	INTRINSIC
low complexity region	656	670	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000071739
AA Change: V277A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071654
Gene: ENSMUSG00000057177
AA Change: V277A

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	25	90	N/A	INTRINSIC
S_TKc	119	404	3.11e-84	SMART
low complexity region	481	490	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108411
AA Change: V277A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104049
Gene: ENSMUSG00000057177
AA Change: V277A

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	25	90	N/A	INTRINSIC
S_TKc	119	404	3.11e-84	SMART
low complexity region	477	486	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169914

SMART Domains

Protein: ENSMUSP00000126890
Gene: ENSMUSG00000090330

Domain	Start	End	E-Value	Type
low complexity region	77	90	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190693

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206654

Meta Mutation Damage Score

0.6052

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multifunctional Ser/Thr protein kinase that is implicated in the control of several regulatory proteins including glycogen synthase, and transcription factors, such as JUN. It also plays a role in the WNT and PI3K signaling pathways, as well as regulates the production of beta-amyloid peptides associated with Alzheimer's disease. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit improved glucose tolerance, increased insulin sensitivity, decreased fat mass and increased lean mass. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	A	G	11: 58,179,176 (GRCm39)	Y170C	probably damaging	Het
Adcy2	C	T	13: 69,036,161 (GRCm39)	V167I	probably benign	Het
Agl	A	G	3: 116,545,825 (GRCm39)	Y1324H	probably damaging	Het
Arhgef37	G	T	18: 61,641,860 (GRCm39)	Q170K	probably damaging	Het
Asah2	A	G	19: 31,994,176 (GRCm39)	S390P	probably damaging	Het
Atp8a1	A	T	5: 67,932,068 (GRCm39)	H240Q	probably benign	Het
Btbd16	T	A	7: 130,390,557 (GRCm39)	N151K	probably damaging	Het
Ccdc73	T	A	2: 104,803,499 (GRCm39)		probably benign	Het
Cecr2	G	T	6: 120,735,159 (GRCm39)	M21I	probably benign	Het
Ckap2l	T	C	2: 129,127,636 (GRCm39)	T181A	probably benign	Het
Col4a3	T	C	1: 82,629,879 (GRCm39)		probably benign	Het
Cplane1	T	A	15: 8,252,576 (GRCm39)	C1933S	probably benign	Het
Dnah9	A	G	11: 65,972,074 (GRCm39)		probably benign	Het
Efcab3	T	C	11: 104,611,706 (GRCm39)	L516P	possibly damaging	Het
Fat3	T	C	9: 16,286,419 (GRCm39)	T1035A	probably benign	Het
Fzd8	A	G	18: 9,212,947 (GRCm39)	T10A	unknown	Het
Gm9631	C	A	11: 121,833,328 (GRCm39)	C636F	probably damaging	Het
Gp1ba	A	G	11: 70,531,614 (GRCm39)		probably benign	Het
H2-M1	T	A	17: 36,981,120 (GRCm39)		probably benign	Het
Hesx1	T	A	14: 26,722,809 (GRCm39)	W45R	probably damaging	Het
Il23r	T	A	6: 67,463,317 (GRCm39)	M59L	possibly damaging	Het
Insc	T	A	7: 114,444,312 (GRCm39)	V433E	probably benign	Het
Itga8	T	C	2: 12,196,053 (GRCm39)		probably benign	Het
Kif13a	T	A	13: 46,966,299 (GRCm39)	E436V	probably damaging	Het
Liph	A	G	16: 21,814,100 (GRCm39)	F7S	probably benign	Het
Lpar2	T	C	8: 70,276,823 (GRCm39)	V204A	probably damaging	Het
Lrfn4	T	A	19: 4,662,668 (GRCm39)		probably null	Het
Man2b2	A	T	5: 36,983,402 (GRCm39)	D182E	probably benign	Het
Mmp27	T	C	9: 7,581,156 (GRCm39)		probably benign	Het
Mrm1	A	G	11: 84,705,639 (GRCm39)		probably benign	Het
Mtx3	T	C	13: 92,986,869 (GRCm39)	S271P	probably damaging	Het
Myh11	A	T	16: 14,044,480 (GRCm39)	M641K	possibly damaging	Het
Necab2	A	G	8: 120,197,670 (GRCm39)	D332G	probably damaging	Het
Ngfr	A	G	11: 95,465,065 (GRCm39)	I261T	possibly damaging	Het
Nrap	T	C	19: 56,345,757 (GRCm39)	E617G	probably damaging	Het
Obscn	G	T	11: 58,941,306 (GRCm39)	T4505K	probably benign	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Or8b57	A	G	9: 40,003,807 (GRCm39)	Y148H	probably damaging	Het
Osbpl11	T	A	16: 33,062,100 (GRCm39)		probably benign	Het
Otof	A	G	5: 30,552,041 (GRCm39)	V301A	probably damaging	Het
Phf3	A	T	1: 30,850,919 (GRCm39)	L1145Q	probably damaging	Het
Phospho2	T	A	2: 69,626,540 (GRCm39)	I232N	possibly damaging	Het
Pomgnt2	T	A	9: 121,811,127 (GRCm39)	K551N	probably damaging	Het
Ptchd3	A	G	11: 121,721,984 (GRCm39)	T286A	possibly damaging	Het
Rnf213	A	G	11: 119,331,976 (GRCm39)	D2396G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,373,341 (GRCm39)	E836G	possibly damaging	Het
Simc1	G	T	13: 54,673,468 (GRCm39)	M605I	possibly damaging	Het
Slc12a3	G	A	8: 95,056,061 (GRCm39)	E66K	possibly damaging	Het
Spg11	T	C	2: 121,915,464 (GRCm39)	N1060S	probably benign	Het
Supt5	A	T	7: 28,028,462 (GRCm39)	W178R	probably damaging	Het
Tmem41a	G	T	16: 21,756,740 (GRCm39)	F126L	probably benign	Het
Ube2m	T	A	7: 12,771,553 (GRCm39)	Q35L	probably benign	Het
Usp33	A	G	3: 152,086,211 (GRCm39)	D658G	probably damaging	Het
Vmn2r12	A	T	5: 109,238,373 (GRCm39)	C456S	probably benign	Het
Vmn2r81	T	A	10: 79,104,434 (GRCm39)	D352E	probably damaging	Het
Zfp516	A	G	18: 83,005,388 (GRCm39)	Y764C	probably damaging	Het
Zswim7	A	G	11: 62,167,473 (GRCm39)		probably benign	Het

Other mutations in Gsk3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4495001:Gsk3a	UTSW	7	24,935,064 (GRCm39)	missense	probably damaging	1.00
R0101:Gsk3a	UTSW	7	24,928,328 (GRCm39)	missense	probably benign	0.10
R1682:Gsk3a	UTSW	7	24,935,133 (GRCm39)	missense	possibly damaging	0.69
R1970:Gsk3a	UTSW	7	24,929,146 (GRCm39)	intron	probably benign
R7095:Gsk3a	UTSW	7	24,933,279 (GRCm39)	missense	probably damaging	0.99
R8903:Gsk3a	UTSW	7	24,936,814 (GRCm39)	missense	possibly damaging	0.91
Z1177:Gsk3a	UTSW	7	24,936,953 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCAGACTTGAAATCCCAGCCCTGC -3'
(R):5'- TTGCTTGTGGACCCTGACACTG -3'

Sequencing Primer
(F):5'- TTAGCGGCTCTAACAAGGTGC -3'
(R):5'- TGACACTGCTGTCCTCAAG -3'

Posted On

2013-07-30