Incidental Mutation 'R0101:Gsk3a'
ID 33201
Institutional Source Beutler Lab
Gene Symbol Gsk3a
Ensembl Gene ENSMUSG00000057177
Gene Name glycogen synthase kinase 3 alpha
Synonyms 2700086H06Rik
MMRRC Submission 038387-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0101 (G1)
Quality Score 190
Status Validated
Chromosome 7
Chromosomal Location 24927683-24937276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24928328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 471 (D471G)
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000071739
AA Change: D475G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071654
Gene: ENSMUSG00000057177
AA Change: D475G

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 benign
Transcript: ENSMUST00000108411
AA Change: D471G

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104049
Gene: ENSMUSG00000057177
AA Change: D471G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169914
SMART Domains Protein: ENSMUSP00000126890
Gene: ENSMUSG00000090330

DomainStartEndE-ValueType
low complexity region 77 90 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190693
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206654
Meta Mutation Damage Score 0.0717 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency 100% (50/50)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C T 11: 119,901,739 (GRCm39) D829N probably benign Het
B3galnt1 A G 3: 69,483,139 (GRCm39) Y41H probably benign Het
Carmil3 A C 14: 55,735,212 (GRCm39) probably benign Het
Cdh17 A G 4: 11,771,341 (GRCm39) Q41R probably benign Het
Cep43 A T 17: 8,388,374 (GRCm39) S76C possibly damaging Het
Chrm2 G T 6: 36,501,430 (GRCm39) C429F probably damaging Het
Cplane1 T A 15: 8,250,444 (GRCm39) C1844S probably benign Het
Cyld T A 8: 89,444,928 (GRCm39) probably null Het
Cyp2d11 C A 15: 82,274,395 (GRCm39) probably benign Het
Dnah1 A G 14: 31,005,856 (GRCm39) Y2308H probably damaging Het
Dnajc27 T C 12: 4,139,142 (GRCm39) V60A probably benign Het
Dnmbp A G 19: 43,862,599 (GRCm39) V850A possibly damaging Het
Emcn A T 3: 137,047,001 (GRCm39) M1L possibly damaging Het
Epc1 A T 18: 6,462,998 (GRCm39) probably benign Het
Fbxo21 T C 5: 118,133,521 (GRCm39) L310P probably damaging Het
Filip1 A G 9: 79,726,810 (GRCm39) I603T probably benign Het
Fndc3b A G 3: 27,512,957 (GRCm39) V723A probably damaging Het
Gemin5 G A 11: 58,036,322 (GRCm39) P674S probably damaging Het
Igbp1b G A 6: 138,634,658 (GRCm39) P262L probably damaging Het
Itga11 T C 9: 62,651,768 (GRCm39) L300S probably damaging Het
Itsn2 T C 12: 4,683,058 (GRCm39) probably benign Het
Lhcgr A G 17: 89,072,598 (GRCm39) S150P probably damaging Het
Man1a T C 10: 53,951,120 (GRCm39) M1V probably null Het
Mical2 C T 7: 111,936,074 (GRCm39) R892C possibly damaging Het
Mtus2 T C 5: 148,019,845 (GRCm39) S747P probably damaging Het
Mug1 A G 6: 121,861,206 (GRCm39) K1276E possibly damaging Het
Or1n1b A G 2: 36,780,138 (GRCm39) S241P probably damaging Het
Pfkfb4 C G 9: 108,839,711 (GRCm39) P260R probably benign Het
Prkca A T 11: 107,948,626 (GRCm39) L121Q probably damaging Het
Prpf40b T C 15: 99,204,681 (GRCm39) probably benign Het
Ripor2 T C 13: 24,864,615 (GRCm39) M215T probably damaging Het
Rpn1 A G 6: 88,070,769 (GRCm39) D213G possibly damaging Het
Rreb1 C A 13: 38,115,518 (GRCm39) P959Q probably benign Het
Sema5b T C 16: 35,483,472 (GRCm39) probably benign Het
Slc38a10 A G 11: 120,041,903 (GRCm39) M1T probably null Het
Slco1c1 G T 6: 141,477,236 (GRCm39) L11F probably damaging Het
Spef2 T C 15: 9,713,194 (GRCm39) T393A probably damaging Het
Srp54b A G 12: 55,302,405 (GRCm39) probably benign Het
St14 G T 9: 31,008,403 (GRCm39) N512K probably benign Het
Syce1l T A 8: 114,382,061 (GRCm39) S237T probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tamm41 A T 6: 115,009,207 (GRCm39) Y129N probably damaging Het
Tctn2 T C 5: 124,753,357 (GRCm39) noncoding transcript Het
Tpr T C 1: 150,285,053 (GRCm39) probably benign Het
Vsig10 T A 5: 117,473,134 (GRCm39) probably null Het
Zfp335 T C 2: 164,741,910 (GRCm39) K635R probably damaging Het
Zfp541 A G 7: 15,811,968 (GRCm39) Y207C probably damaging Het
Other mutations in Gsk3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4495001:Gsk3a UTSW 7 24,935,064 (GRCm39) missense probably damaging 1.00
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'- CTGTGGAAACTAAGACACCAGGGAC -3'
(R):5'- GTTTGTAACCCTGAACCCAGAGTGAC -3'

Sequencing Primer
(F):5'- ATCTATTTACACCCAGGGGGC -3'
(R):5'- AAAGGCCAACTGTCTCCTCT -3'
Posted On 2013-05-09