Incidental Mutation 'PIT4495001:Gsk3a'
ID 555961
Institutional Source Beutler Lab
Gene Symbol Gsk3a
Ensembl Gene ENSMUSG00000057177
Gene Name glycogen synthase kinase 3 alpha
Synonyms 2700086H06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4495001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 24927683-24937276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 24935064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 129 (S129A)
Ref Sequence ENSEMBL: ENSMUSP00000071654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071739] [ENSMUST00000108411]
AlphaFold Q2NL51
Predicted Effect probably damaging
Transcript: ENSMUST00000071739
AA Change: S129A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071654
Gene: ENSMUSG00000057177
AA Change: S129A

DomainStartEndE-ValueType
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: S129A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104049
Gene: ENSMUSG00000057177
AA Change: S129A

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.6%
  • 10x: 84.0%
  • 20x: 69.8%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T A 1: 156,460,755 (GRCm39) V384D probably damaging Het
Adamts7 A G 9: 90,056,675 (GRCm39) E248G probably damaging Het
Aff1 A G 5: 103,997,391 (GRCm39) T1162A probably benign Het
Ank3 C A 10: 69,828,902 (GRCm39) H2524N Het
Aoc1l3 A T 6: 48,964,710 (GRCm39) E239D possibly damaging Het
Cct7 T A 6: 85,436,943 (GRCm39) N60K probably damaging Het
Cfap43 A C 19: 47,885,741 (GRCm39) C291W probably damaging Het
Cobl G A 11: 12,204,596 (GRCm39) T702I probably benign Het
Col5a1 C A 2: 27,914,788 (GRCm39) Q1624K unknown Het
Cubn T A 2: 13,496,561 (GRCm39) T22S probably benign Het
Def8 A C 8: 124,186,292 (GRCm39) M344L probably benign Het
Fzd7 A G 1: 59,523,466 (GRCm39) T450A probably benign Het
Gm11214 G A 4: 63,580,922 (GRCm39) L76F probably benign Het
Gm5797 T C 14: 7,329,530 (GRCm38) T153A probably benign Het
Intu A G 3: 40,652,033 (GRCm39) Q830R probably benign Het
Kcnma1 C T 14: 23,475,665 (GRCm39) V750I probably benign Het
Mlh1 T A 9: 111,076,328 (GRCm39) Y343F probably benign Het
Myb C T 10: 21,028,521 (GRCm39) R114H probably damaging Het
Neb A T 2: 52,102,748 (GRCm39) D4508E probably benign Het
Nell2 T C 15: 95,281,608 (GRCm39) D366G probably benign Het
Or1o3 A C 17: 37,573,721 (GRCm39) V278G possibly damaging Het
Or4d6 A G 19: 12,086,076 (GRCm39) I52T possibly damaging Het
Or5ac25 A C 16: 59,181,871 (GRCm39) F237V probably damaging Het
Or5h26 G T 16: 58,988,337 (GRCm39) H56Q possibly damaging Het
Or7a38 T C 10: 78,752,821 (GRCm39) V49A probably benign Het
Pcdhgc5 C T 18: 37,954,030 (GRCm39) H435Y possibly damaging Het
Pira12 A T 7: 3,900,457 (GRCm39) C98S probably damaging Het
Pnpla7 T A 2: 24,932,151 (GRCm39) D935E probably damaging Het
Pole A G 5: 110,451,780 (GRCm39) E874G probably damaging Het
Psd3 A C 8: 68,416,565 (GRCm39) I158R probably benign Het
Pzp C A 6: 128,479,192 (GRCm39) V654L probably benign Het
Rabep1 A G 11: 70,808,405 (GRCm39) T454A probably damaging Het
Rad54l2 C A 9: 106,593,343 (GRCm39) S419I probably benign Het
Rin3 A G 12: 102,335,295 (GRCm39) D402G probably benign Het
Ripk4 T C 16: 97,544,370 (GRCm39) H759R probably damaging Het
Rlig1 A T 10: 100,419,812 (GRCm39) F90I probably damaging Het
Sbsn GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA 7: 30,452,391 (GRCm39) probably benign Het
Sf3a3 C T 4: 124,622,113 (GRCm39) P391L probably damaging Het
Snx9 T A 17: 5,970,401 (GRCm39) I379K possibly damaging Het
Syt5 A C 7: 4,544,077 (GRCm39) probably null Het
Tex47 A G 5: 7,355,011 (GRCm39) D64G probably benign Het
Zbbx C A 3: 74,968,944 (GRCm39) W509L probably damaging Het
Zer1 T C 2: 29,993,555 (GRCm39) K551R probably benign Het
Other mutations in Gsk3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0101:Gsk3a UTSW 7 24,928,328 (GRCm39) missense probably benign 0.10
R0715:Gsk3a UTSW 7 24,931,134 (GRCm39) missense probably damaging 1.00
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'- TGAAATTCCGGGCTCCAACTC -3'
(R):5'- GTGCCAGACAGTTATTCTACCAC -3'

Sequencing Primer
(F):5'- CTATTGCTAGGTACACTCAGCAG -3'
(R):5'- AGTGAACTGAGCAGCTTTCC -3'
Posted On 2019-06-07