Incidental Mutation 'R1475:Gaa'
ID 164009
Institutional Source Beutler Lab
Gene Symbol Gaa
Ensembl Gene ENSMUSG00000025579
Gene Name glucosidase, alpha, acid
Synonyms E430018M07Rik
MMRRC Submission 039528-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.722) question?
Stock # R1475 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 119158789-119176284 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 119165142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026666] [ENSMUST00000106258] [ENSMUST00000106259] [ENSMUST00000132706]
AlphaFold P70699
Predicted Effect probably null
Transcript: ENSMUST00000026666
SMART Domains Protein: ENSMUSP00000026666
Gene: ENSMUSG00000025579

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
PD 80 134 1.08e-15 SMART
Pfam:Gal_mutarotas_2 254 320 3.7e-12 PFAM
Pfam:Glyco_hydro_31 340 825 8.8e-175 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106258
SMART Domains Protein: ENSMUSP00000101865
Gene: ENSMUSG00000025579

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
PD 80 134 1.08e-15 SMART
Predicted Effect probably null
Transcript: ENSMUST00000106259
SMART Domains Protein: ENSMUSP00000101866
Gene: ENSMUSG00000025579

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
PD 80 134 1.08e-15 SMART
Pfam:NtCtMGAM_N 147 253 3.5e-32 PFAM
Pfam:Gal_mutarotas_2 254 320 6.5e-12 PFAM
Pfam:Glyco_hydro_31 340 825 1.8e-153 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128753
Predicted Effect probably benign
Transcript: ENSMUST00000132706
SMART Domains Protein: ENSMUSP00000119702
Gene: ENSMUSG00000025579

DomainStartEndE-ValueType
Pfam:Glyco_hydro_31 46 269 2.9e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138510
Predicted Effect probably benign
Transcript: ENSMUST00000150562
SMART Domains Protein: ENSMUSP00000115128
Gene: ENSMUSG00000025579

DomainStartEndE-ValueType
Pfam:Glyco_hydro_31 1 96 4.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143288
SMART Domains Protein: ENSMUSP00000121984
Gene: ENSMUSG00000025579

DomainStartEndE-ValueType
Pfam:Glyco_hydro_31 8 207 2.2e-67 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 96% (46/48)
MGI Phenotype FUNCTION: This gene encodes a lysosomal acid glucosidase that is involved in the degradation of glycogen. The encoded preproprotein undergoes proteolytic processing to generate a mature enzyme that cleaves alpha-1-4 and alpha-1-6 glycosidic bonds of glycogen, maltose and intermediate oligosaccharides within the lysosome. Mice lacking the encoded protein exhibit symptoms similar to human Pompe syndrome such as accumulation of glycogen in cardiac and skeletal muscle lysosomes resulting in reduced mobility and strength. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous inactivation of this gene leads to massive glycogen accumulation in multiple organs, cardiomyopathy, hypoactivity, severe motor disability, profound muscle weakness and wasting, and progressive kyphosis. The age of onset and clinical course ofthe disease appear to be strain-dependent. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik A T 8: 122,267,327 (GRCm39) probably benign Het
9230112D13Rik T A 14: 34,234,012 (GRCm39) D93V unknown Het
Aatk G A 11: 119,901,714 (GRCm39) T894M probably damaging Het
Acacb T C 5: 114,333,313 (GRCm39) I479T possibly damaging Het
Acap3 T C 4: 155,987,278 (GRCm39) I431T probably damaging Het
Adgrl1 A G 8: 84,664,979 (GRCm39) K1267R possibly damaging Het
Bphl A C 13: 34,244,507 (GRCm39) D208A probably benign Het
C2cd5 T C 6: 143,018,298 (GRCm39) D308G possibly damaging Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Cdk11b G A 4: 155,718,674 (GRCm39) R208H probably damaging Het
Cfap44 T C 16: 44,254,175 (GRCm39) probably benign Het
Chrna4 T C 2: 180,671,172 (GRCm39) S195G probably benign Het
Cpsf2 T C 12: 101,951,495 (GRCm39) L144S probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dffa T A 4: 149,201,935 (GRCm39) L171Q probably damaging Het
Emcn C T 3: 137,085,668 (GRCm39) H89Y possibly damaging Het
Espn G A 4: 152,218,728 (GRCm39) P452S probably damaging Het
Fam78b T A 1: 166,829,346 (GRCm39) I71N probably damaging Het
Fam89b A G 19: 5,779,447 (GRCm39) S37P probably damaging Het
Fat4 G A 3: 38,942,472 (GRCm39) R455H probably damaging Het
Fbxo6 A G 4: 148,230,567 (GRCm39) F232L probably benign Het
Fcamr T A 1: 130,742,221 (GRCm39) probably null Het
Fermt3 T C 19: 6,996,242 (GRCm39) probably null Het
Fsip2 A T 2: 82,817,539 (GRCm39) D4424V probably damaging Het
Glce T C 9: 61,968,210 (GRCm39) T314A possibly damaging Het
Hdac5 T C 11: 102,093,012 (GRCm39) Q575R possibly damaging Het
Il23r C A 6: 67,429,280 (GRCm39) probably null Het
Kcnj4 T A 15: 79,368,831 (GRCm39) E383V probably damaging Het
Lrsam1 G T 2: 32,844,277 (GRCm39) Q115K possibly damaging Het
Lyst T A 13: 13,882,797 (GRCm39) probably null Het
Myf5 A G 10: 107,320,515 (GRCm39) V190A probably benign Het
Nmnat2 G A 1: 152,950,441 (GRCm39) R42H probably damaging Het
Or8b42 T A 9: 38,342,160 (GRCm39) V194D probably benign Het
Or8k20 A T 2: 86,105,905 (GRCm39) *309R probably null Het
Osbpl1a T A 18: 12,890,737 (GRCm39) K380M probably damaging Het
Pgd T C 4: 149,241,232 (GRCm39) T226A probably benign Het
Pitpnm3 T C 11: 71,965,453 (GRCm39) T127A probably damaging Het
Plekhm2 T C 4: 141,355,165 (GRCm39) D954G possibly damaging Het
Pramel14 T C 4: 143,720,882 (GRCm39) K20E probably benign Het
Rasal1 T A 5: 120,801,047 (GRCm39) F236I possibly damaging Het
Stab1 T C 14: 30,885,785 (GRCm39) N63S probably benign Het
Syf2 T A 4: 134,662,745 (GRCm39) M145K possibly damaging Het
Usp34 C A 11: 23,423,253 (GRCm39) L3152I probably damaging Het
Usp50 T C 2: 126,611,787 (GRCm39) probably null Het
Wdfy4 A T 14: 32,830,645 (GRCm39) I929N probably benign Het
Zfp874b A T 13: 67,622,211 (GRCm39) probably null Het
Other mutations in Gaa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Gaa APN 11 119,165,786 (GRCm39) missense probably benign
IGL00780:Gaa APN 11 119,165,117 (GRCm39) splice site probably null
IGL00975:Gaa APN 11 119,165,509 (GRCm39) missense possibly damaging 0.93
IGL01354:Gaa APN 11 119,161,394 (GRCm39) missense probably benign 0.18
IGL01572:Gaa APN 11 119,175,003 (GRCm39) missense probably benign
IGL01634:Gaa APN 11 119,164,902 (GRCm39) missense possibly damaging 0.79
IGL01724:Gaa APN 11 119,165,947 (GRCm39) missense possibly damaging 0.65
IGL01889:Gaa APN 11 119,169,123 (GRCm39) missense probably benign 0.03
IGL02052:Gaa APN 11 119,175,021 (GRCm39) missense possibly damaging 0.76
IGL02173:Gaa APN 11 119,165,739 (GRCm39) missense probably damaging 1.00
IGL02261:Gaa APN 11 119,172,091 (GRCm39) makesense probably null
IGL02337:Gaa APN 11 119,168,429 (GRCm39) missense probably damaging 1.00
IGL02625:Gaa APN 11 119,165,559 (GRCm39) missense probably damaging 1.00
IGL02818:Gaa APN 11 119,167,674 (GRCm39) missense probably damaging 0.97
R0135:Gaa UTSW 11 119,169,716 (GRCm39) missense probably benign 0.00
R0280:Gaa UTSW 11 119,175,373 (GRCm39) missense probably damaging 1.00
R0479:Gaa UTSW 11 119,172,062 (GRCm39) missense possibly damaging 0.95
R1130:Gaa UTSW 11 119,165,509 (GRCm39) missense probably damaging 0.97
R1132:Gaa UTSW 11 119,175,885 (GRCm39) missense probably damaging 0.99
R1146:Gaa UTSW 11 119,165,730 (GRCm39) missense probably damaging 1.00
R1146:Gaa UTSW 11 119,165,730 (GRCm39) missense probably damaging 1.00
R1179:Gaa UTSW 11 119,171,954 (GRCm39) missense probably damaging 0.98
R1464:Gaa UTSW 11 119,163,810 (GRCm39) missense probably benign 0.02
R1464:Gaa UTSW 11 119,163,810 (GRCm39) missense probably benign 0.02
R1711:Gaa UTSW 11 119,171,286 (GRCm39) missense probably damaging 1.00
R1817:Gaa UTSW 11 119,175,324 (GRCm39) nonsense probably null
R1828:Gaa UTSW 11 119,174,098 (GRCm39) missense probably damaging 0.99
R2013:Gaa UTSW 11 119,175,409 (GRCm39) splice site probably null
R2126:Gaa UTSW 11 119,161,108 (GRCm39) nonsense probably null
R2179:Gaa UTSW 11 119,165,884 (GRCm39) critical splice acceptor site probably null
R2496:Gaa UTSW 11 119,174,531 (GRCm39) missense possibly damaging 0.53
R2936:Gaa UTSW 11 119,174,550 (GRCm39) missense probably benign 0.02
R4321:Gaa UTSW 11 119,160,963 (GRCm39) missense probably benign 0.20
R4603:Gaa UTSW 11 119,169,784 (GRCm39) missense probably damaging 1.00
R4849:Gaa UTSW 11 119,163,813 (GRCm39) missense possibly damaging 0.95
R5225:Gaa UTSW 11 119,167,669 (GRCm39) missense probably damaging 1.00
R5643:Gaa UTSW 11 119,171,361 (GRCm39) missense possibly damaging 0.96
R5644:Gaa UTSW 11 119,171,361 (GRCm39) missense possibly damaging 0.96
R6074:Gaa UTSW 11 119,175,012 (GRCm39) missense probably benign 0.07
R6154:Gaa UTSW 11 119,169,178 (GRCm39) missense probably damaging 1.00
R6208:Gaa UTSW 11 119,171,997 (GRCm39) missense probably benign 0.01
R6209:Gaa UTSW 11 119,171,997 (GRCm39) missense probably benign 0.01
R6258:Gaa UTSW 11 119,171,997 (GRCm39) missense probably benign 0.01
R6259:Gaa UTSW 11 119,171,997 (GRCm39) missense probably benign 0.01
R6260:Gaa UTSW 11 119,171,997 (GRCm39) missense probably benign 0.01
R7173:Gaa UTSW 11 119,169,817 (GRCm39) missense probably damaging 1.00
R7211:Gaa UTSW 11 119,175,030 (GRCm39) missense possibly damaging 0.80
R7379:Gaa UTSW 11 119,174,525 (GRCm39) missense probably benign
R8011:Gaa UTSW 11 119,163,762 (GRCm39) missense probably benign 0.00
R8135:Gaa UTSW 11 119,169,210 (GRCm39) critical splice donor site probably null
R8192:Gaa UTSW 11 119,161,235 (GRCm39) missense possibly damaging 0.92
R8807:Gaa UTSW 11 119,168,393 (GRCm39) missense probably benign 0.02
R9028:Gaa UTSW 11 119,161,207 (GRCm39) missense probably benign 0.16
R9453:Gaa UTSW 11 119,165,959 (GRCm39) missense probably benign 0.21
R9453:Gaa UTSW 11 119,165,958 (GRCm39) missense probably damaging 1.00
X0064:Gaa UTSW 11 119,164,841 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGGATGATCCATCCAAGTGCCAG -3'
(R):5'- TGGAGAATCACCCAGGACCTCCTTAG -3'

Sequencing Primer
(F):5'- CCACTGTCTTCAGATGCTGAGAG -3'
(R):5'- ACCTCCTTAGGTTCCGAGGATG -3'
Posted On 2014-03-28