Incidental Mutation 'R4594:Gsk3b'
ID 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 16
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

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

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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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

Sequencing Primer
Posted On 2015-09-25