Incidental Mutation 'R6208:Gaa'
ID 503278
Institutional Source Beutler Lab
Gene Symbol Gaa
Ensembl Gene ENSMUSG00000025579
Gene Name glucosidase, alpha, acid
Synonyms E430018M07Rik
MMRRC Submission 044342-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.722) question?
Stock # R6208 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 119158789-119176284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 119171997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 700 (A700D)
Ref Sequence ENSEMBL: ENSMUSP00000101866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026666] [ENSMUST00000106259] [ENSMUST00000132706]
AlphaFold P70699
Predicted Effect probably benign
Transcript: ENSMUST00000026666
AA Change: A700D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000026666
Gene: ENSMUSG00000025579
AA Change: A700D

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: ENSMUST00000106259
AA Change: A700D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000101866
Gene: ENSMUSG00000025579
AA Change: A700D

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 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 unknown
Transcript: ENSMUST00000143288
AA Change: A176D
SMART Domains Protein: ENSMUSP00000121984
Gene: ENSMUSG00000025579
AA Change: A176D

DomainStartEndE-ValueType
Pfam:Glyco_hydro_31 8 207 2.2e-67 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (57/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a A T 3: 32,766,043 (GRCm39) I18F probably benign Het
Apol11a C T 15: 77,401,241 (GRCm39) R243C probably damaging Het
Asap3 A G 4: 135,968,508 (GRCm39) M687V probably benign Het
Axdnd1 C T 1: 156,220,426 (GRCm39) probably benign Het
Baz2b A G 2: 59,755,150 (GRCm39) F1026S probably damaging Het
Bsg T C 10: 79,544,672 (GRCm39) L70P probably damaging Het
Col10a1 A G 10: 34,270,582 (GRCm39) N185D possibly damaging Het
Col6a2 T A 10: 76,450,891 (GRCm39) N50I possibly damaging Het
Cux2 G A 5: 121,998,885 (GRCm39) P1352S possibly damaging Het
Defa25 A G 8: 21,575,197 (GRCm39) probably null Het
Emc1 G T 4: 139,081,582 (GRCm39) R70L probably damaging Het
Fat1 T C 8: 45,480,650 (GRCm39) F3028S probably damaging Het
Fhit T C 14: 9,573,435 (GRCm38) E205G probably benign Het
Gm20830 T G Y: 6,916,792 (GRCm39) E109A probably benign Homo
Grm1 A T 10: 10,595,690 (GRCm39) F646Y probably damaging Het
Hp1bp3 A G 4: 137,944,481 (GRCm39) probably benign Het
Lce1d G A 3: 92,593,312 (GRCm39) P34S unknown Het
Lpar1 G A 4: 58,504,630 (GRCm39) Q13* probably null Het
Lrrc61 C T 6: 48,545,839 (GRCm39) R221* probably null Het
Map2 A G 1: 66,470,749 (GRCm39) N328D probably damaging Het
Mndal T A 1: 173,684,988 (GRCm39) D527V possibly damaging Het
Mycbp2 T G 14: 103,532,664 (GRCm39) N430T probably benign Het
Myo1e A G 9: 70,283,887 (GRCm39) Y861C probably damaging Het
Nav2 A G 7: 49,213,851 (GRCm39) T1622A probably damaging Het
Nom1 A T 5: 29,654,617 (GRCm39) H773L possibly damaging Het
Npc2 G T 12: 84,803,919 (GRCm39) P144Q probably damaging Het
Npnt A G 3: 132,655,774 (GRCm39) probably benign Het
Nxpe4 A T 9: 48,304,678 (GRCm39) Y255F probably benign Het
Obscn G A 11: 58,958,474 (GRCm39) A3769V possibly damaging Het
Optc T C 1: 133,832,737 (GRCm39) D121G probably damaging Het
Pard6a T C 8: 106,428,866 (GRCm39) F26L probably damaging Het
Pcdhga4 T A 18: 37,819,762 (GRCm39) I437N probably damaging Het
Phf12 G T 11: 77,914,417 (GRCm39) V71F probably damaging Het
Phf21b T A 15: 84,679,317 (GRCm39) S282C probably damaging Het
Pou5f1 T C 17: 35,821,357 (GRCm39) F323S possibly damaging Het
Psmd5 A T 2: 34,757,023 (GRCm39) I67N probably damaging Het
Pyroxd1 A G 6: 142,303,182 (GRCm39) K273R probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpusd1 A T 17: 25,949,352 (GRCm39) H174L probably damaging Het
Ryr2 T C 13: 11,910,106 (GRCm39) K94R probably benign Het
Scn2b A G 9: 45,029,328 (GRCm39) R3G probably benign Het
Sf3b2 A T 19: 5,325,126 (GRCm39) M782K possibly damaging Het
Skint7 A G 4: 111,842,073 (GRCm39) probably null Het
Slc43a1 A G 2: 84,687,184 (GRCm39) I319V possibly damaging Het
Snupn T A 9: 56,890,247 (GRCm39) M356K probably damaging Het
Spata31d1a C A 13: 59,848,378 (GRCm39) R1250M probably damaging Het
Sprr2h T C 3: 92,294,216 (GRCm39) V21A unknown Het
Srpra A G 9: 35,127,291 (GRCm39) T614A possibly damaging Het
Stk36 A T 1: 74,650,591 (GRCm39) Q327L probably benign Het
Syne3 A G 12: 104,909,622 (GRCm39) I738T probably benign Het
Tcea3 A T 4: 135,975,360 (GRCm39) M1L probably damaging Het
Tead2 G T 7: 44,867,526 (GRCm39) R85L probably damaging Het
Thap7 T C 16: 17,346,300 (GRCm39) N228D possibly damaging Het
Trip11 T A 12: 101,865,154 (GRCm39) E173V probably damaging Het
Ttc38 T A 15: 85,725,698 (GRCm39) M187K possibly damaging Het
Vmn1r193 T A 13: 22,403,138 (GRCm39) T285S possibly damaging Het
Vmn2r106 T C 17: 20,488,591 (GRCm39) T603A probably damaging Het
Vps39 A T 2: 120,163,897 (GRCm39) M355K probably damaging Het
Wnt5b G T 6: 119,423,473 (GRCm39) L51I probably damaging Het
Xxylt1 A G 16: 30,826,626 (GRCm39) Y230H probably benign 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
R1475:Gaa UTSW 11 119,165,142 (GRCm39) splice site probably null
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
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'- GCCCAGACACTTCCTGTTCTAG -3'
(R):5'- TGTGAGAACACCCCTAGCAG -3'

Sequencing Primer
(F):5'- GGCAGAAAGGGTTTATTCCATCC -3'
(R):5'- GGAGGGACTTCTCGGGCAC -3'
Posted On 2018-02-27