Incidental Mutation 'R1428:Gsk3b'
ID 161415
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 039484-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # R1428 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 37909363-38066446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37910937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 17 (V17A)
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 benign
Transcript: ENSMUST00000023507
AA Change: V17A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000023507
Gene: ENSMUSG00000022812
AA Change: V17A

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: V17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110398
Gene: ENSMUSG00000022812
AA Change: V17A

S_TKc 56 353 1.13e-86 SMART
low complexity region 399 415 N/A INTRINSIC
low complexity region 422 432 N/A INTRINSIC
Meta Mutation Damage Score 0.0681 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.2%
Validation Efficiency 98% (56/57)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,853,909 (GRCm39) I249M possibly damaging Het
Abl1 G T 2: 31,691,822 (GRCm39) A1114S probably damaging Het
Acbd5 T C 2: 22,989,733 (GRCm39) V452A probably damaging Het
Armc12 A G 17: 28,756,910 (GRCm39) D225G probably damaging Het
Atad3a T A 4: 155,840,139 (GRCm39) Q121H probably damaging Het
Atosa A T 9: 74,913,603 (GRCm39) T79S probably benign Het
Bptf T A 11: 106,963,873 (GRCm39) I1711F probably damaging Het
C2cd4c A T 10: 79,448,064 (GRCm39) I361N probably damaging Het
Canx A G 11: 50,199,221 (GRCm39) probably benign Het
Ccdc127 C T 13: 74,505,034 (GRCm39) T194I probably benign Het
Cdc42ep3 T C 17: 79,642,465 (GRCm39) K152E probably benign Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Cnbd2 T C 2: 156,181,204 (GRCm39) probably null Het
Cplane1 T A 15: 8,248,853 (GRCm39) Y1801N possibly damaging Het
Crybg1 T C 10: 43,851,074 (GRCm39) N1599S probably benign Het
Cyc1 T C 15: 76,228,548 (GRCm39) V59A probably benign Het
Cyp2j11 T C 4: 96,183,117 (GRCm39) K484E probably benign Het
Ddx60 T C 8: 62,411,193 (GRCm39) probably benign Het
Epg5 T C 18: 78,005,642 (GRCm39) S711P probably damaging Het
Espl1 A T 15: 102,214,120 (GRCm39) Q649L probably benign Het
Eya1 G A 1: 14,374,638 (GRCm39) probably benign Het
Fat2 T A 11: 55,186,913 (GRCm39) Y1311F probably damaging Het
Garin5b T A 7: 4,760,687 (GRCm39) H675L possibly damaging Het
Gins4 T C 8: 23,717,144 (GRCm39) Y208C probably damaging Het
Gykl1 A T 18: 52,827,833 (GRCm39) K347I probably benign Het
Helz T A 11: 107,483,666 (GRCm39) probably benign Het
Hivep3 C T 4: 119,953,772 (GRCm39) T696I possibly damaging Het
Ifi27l2a G T 12: 103,409,093 (GRCm39) probably benign Het
Kif13a A G 13: 46,944,987 (GRCm39) probably benign Het
Kpna3 C T 14: 61,620,669 (GRCm39) probably benign Het
Mmp15 C G 8: 96,096,190 (GRCm39) P327R probably benign Het
Mrc1 A T 2: 14,320,074 (GRCm39) T1003S probably benign Het
Mtss1 T C 15: 58,819,239 (GRCm39) D393G probably benign Het
Olfm4 T A 14: 80,258,843 (GRCm39) Y331N probably damaging Het
Or10a49 T A 7: 108,468,167 (GRCm39) N65Y probably damaging Het
Or4c12b G C 2: 89,646,725 (GRCm39) L12F probably damaging Het
P2rx3 G C 2: 84,855,294 (GRCm39) T54R possibly damaging Het
Pacsin1 C T 17: 27,924,937 (GRCm39) T217I probably damaging Het
Phlpp1 A G 1: 106,308,155 (GRCm39) probably null Het
Pknox1 T C 17: 31,811,066 (GRCm39) probably benign Het
Plb1 A G 5: 32,422,256 (GRCm39) R70G possibly damaging Het
Rab3gap2 G A 1: 184,980,101 (GRCm39) A340T probably damaging Het
Rnf103 T A 6: 71,485,983 (GRCm39) W205R probably damaging Het
Rps6kc1 G A 1: 190,530,923 (GRCm39) T936M probably damaging Het
Spef2 T C 15: 9,596,793 (GRCm39) probably benign Het
Sstr4 A G 2: 148,238,279 (GRCm39) S297G probably benign Het
Timm8a1 C T X: 133,438,872 (GRCm39) E93K probably benign Het
Uck1 A C 2: 32,148,367 (GRCm39) Y150D probably damaging Het
Yipf4 A G 17: 74,805,300 (GRCm39) probably benign Het
Other mutations in Gsk3b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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

Sequencing Primer
Posted On 2014-03-14