Incidental Mutation 'R0689:Agl'
ID 218713
Institutional Source Beutler Lab
Gene Symbol Agl
Ensembl Gene ENSMUSG00000033400
Gene Name amylo-1,6-glucosidase, 4-alpha-glucanotransferase
Synonyms 9430004C13Rik, 9630046L06Rik, 1110061O17Rik
MMRRC Submission 038874-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.360) question?
Stock # R0689 (G1)
Quality Score 27
Status Validated
Chromosome 3
Chromosomal Location 116533648-116601815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116587277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 93 (Y93H)
Ref Sequence ENSEMBL: ENSMUSP00000124149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040603] [ENSMUST00000159670] [ENSMUST00000159742] [ENSMUST00000161336] [ENSMUST00000162792]
AlphaFold F8VPN4
Predicted Effect probably damaging
Transcript: ENSMUST00000040603
AA Change: Y93H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: Y93H

DomainStartEndE-ValueType
Pfam:hGDE_N 31 116 4.8e-24 PFAM
Pfam:hDGE_amylase 120 550 9.6e-167 PFAM
Pfam:hGDE_central 697 974 2e-90 PFAM
Pfam:GDE_C 1044 1527 8.5e-145 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159670
AA Change: Y93H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124840
Gene: ENSMUSG00000033400
AA Change: Y93H

DomainStartEndE-ValueType
Pfam:hGDE_N 30 117 7.9e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159742
AA Change: Y93H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: Y93H

DomainStartEndE-ValueType
Pfam:hGDE_N 31 116 2.1e-20 PFAM
Pfam:hDGE_amylase 120 550 7.8e-164 PFAM
Pfam:hGDE_central 697 974 6.2e-87 PFAM
Pfam:GDE_C 1043 1279 6.7e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161336
AA Change: Y93H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123877
Gene: ENSMUSG00000033400
AA Change: Y93H

DomainStartEndE-ValueType
Pfam:hGDE_N 30 117 2.1e-29 PFAM
Pfam:hDGE_amylase 120 230 3.7e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162040
Predicted Effect probably damaging
Transcript: ENSMUST00000162792
AA Change: Y93H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: Y93H

DomainStartEndE-ValueType
Pfam:hGDE_N 30 117 4e-28 PFAM
Pfam:hDGE_amylase 120 550 1.4e-167 PFAM
Pfam:hGDE_central 697 975 5.6e-95 PFAM
Pfam:GDE_C 1061 1527 1.1e-137 PFAM
Meta Mutation Damage Score 0.4465 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.4%
  • 20x: 91.1%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to hypoglycemia, altered blood biochemistry, severe hepatomegaly, glycogen accumulation in the liver, heart, skeletal muscle and other tissues, motor impairment, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 C A 7: 28,596,474 (GRCm39) G674W probably damaging Het
Adcy9 A G 16: 4,130,668 (GRCm39) probably benign Het
Adgrv1 C T 13: 81,623,224 (GRCm39) V3800I possibly damaging Het
Aldh1a3 T A 7: 66,051,753 (GRCm39) D400V probably benign Het
Bpifc A G 10: 85,796,411 (GRCm39) probably benign Het
Cachd1 G T 4: 100,832,073 (GRCm39) R745L probably damaging Het
Cadm3 T A 1: 173,172,019 (GRCm39) T185S possibly damaging Het
Cep85l G T 10: 53,224,943 (GRCm39) D215E probably damaging Het
Ces1g A G 8: 94,055,035 (GRCm39) S221P probably damaging Het
Cfap206 C T 4: 34,722,668 (GRCm39) V138M probably benign Het
Csmd3 A T 15: 47,619,421 (GRCm39) F1714I probably benign Het
Cyp4f18 A G 8: 72,749,812 (GRCm39) L279P probably benign Het
Dnah7a G A 1: 53,659,840 (GRCm39) Q723* probably null Het
Dnaja2 A G 8: 86,273,347 (GRCm39) probably benign Het
Dnajc6 T C 4: 101,468,450 (GRCm39) V162A possibly damaging Het
Dok4 T C 8: 95,597,547 (GRCm39) T3A probably benign Het
Efcab7 T C 4: 99,761,981 (GRCm39) W424R probably damaging Het
Fah A T 7: 84,242,392 (GRCm39) probably null Het
Fam120a T C 13: 49,121,114 (GRCm39) D64G probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gas8 T G 8: 124,250,845 (GRCm39) L106R probably damaging Het
Gykl1 T G 18: 52,827,123 (GRCm39) N110K possibly damaging Het
Hsd3b3 G T 3: 98,649,295 (GRCm39) L343I possibly damaging Het
Itch T A 2: 155,024,098 (GRCm39) S234T possibly damaging Het
Itgbl1 A T 14: 124,065,259 (GRCm39) I61F possibly damaging Het
Klf6 T A 13: 5,915,115 (GRCm39) S185T probably damaging Het
Klk1b1 A C 7: 43,620,143 (GRCm39) K202T probably benign Het
Liph T C 16: 21,786,818 (GRCm39) Y268C probably damaging Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Myo9b G A 8: 71,783,400 (GRCm39) D574N probably damaging Het
Nfyb G A 10: 82,590,836 (GRCm39) A65V possibly damaging Het
Nipbl A G 15: 8,322,562 (GRCm39) probably null Het
Olfm3 T A 3: 114,916,194 (GRCm39) N355K probably benign Het
Or4k15c A T 14: 50,321,689 (GRCm39) F150I probably benign Het
Pcdhb21 A G 18: 37,648,370 (GRCm39) T500A probably benign Het
Pclo A G 5: 14,764,033 (GRCm39) I4169V unknown Het
Pde4d T C 13: 109,877,078 (GRCm39) S144P possibly damaging Het
Pgghg T C 7: 140,523,191 (GRCm39) Y157H probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pla2g12a T C 3: 129,674,947 (GRCm39) probably null Het
Ppp1r14d T C 2: 119,060,093 (GRCm39) D63G probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Sgip1 A T 4: 102,823,449 (GRCm39) D690V probably damaging Het
Skp1 T C 11: 52,134,592 (GRCm39) probably benign Het
Slc25a12 T C 2: 71,141,837 (GRCm39) Y272C possibly damaging Het
Slc37a2 A G 9: 37,146,846 (GRCm39) probably benign Het
Snx6 A T 12: 54,810,441 (GRCm39) S112T probably benign Het
Sox6 A G 7: 115,085,786 (GRCm39) V685A probably damaging Het
Taf2 A T 15: 54,926,461 (GRCm39) V163E possibly damaging Het
Tg A T 15: 66,711,253 (GRCm39) probably benign Het
Tmem30c A G 16: 57,090,536 (GRCm39) Y224H probably damaging Het
Tmem45b T C 9: 31,339,879 (GRCm39) N173D probably benign Het
Traf5 T C 1: 191,729,837 (GRCm39) T405A probably benign Het
Trerf1 C T 17: 47,630,300 (GRCm39) noncoding transcript Het
Triobp A T 15: 78,844,188 (GRCm39) K135* probably null Het
Ttll9 T A 2: 152,825,047 (GRCm39) D75E probably benign Het
Vmn1r63 T C 7: 5,806,609 (GRCm39) I8V probably benign Het
Vmn2r77 A T 7: 86,460,872 (GRCm39) I733F probably damaging Het
Vmn2r98 T C 17: 19,300,782 (GRCm39) S595P possibly damaging Het
Zcchc2 C T 1: 105,958,234 (GRCm39) Q504* probably null Het
Zfp2 T C 11: 50,791,734 (GRCm39) D103G probably benign Het
Zfp59 A G 7: 27,553,142 (GRCm39) K198R probably benign Het
Zfp64 C A 2: 168,777,121 (GRCm39) probably benign Het
Other mutations in Agl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Agl APN 3 116,565,132 (GRCm39) missense probably benign 0.10
IGL00500:Agl APN 3 116,566,469 (GRCm39) missense probably damaging 1.00
IGL00691:Agl APN 3 116,572,907 (GRCm39) missense possibly damaging 0.46
IGL00711:Agl APN 3 116,587,276 (GRCm39) missense probably damaging 1.00
IGL01291:Agl APN 3 116,566,438 (GRCm39) missense possibly damaging 0.49
IGL01641:Agl APN 3 116,578,104 (GRCm39) nonsense probably null
IGL01860:Agl APN 3 116,566,175 (GRCm39) splice site probably benign
IGL01893:Agl APN 3 116,582,198 (GRCm39) missense probably damaging 0.97
IGL02193:Agl APN 3 116,572,815 (GRCm39) missense probably damaging 0.99
IGL02379:Agl APN 3 116,572,740 (GRCm39) missense probably damaging 1.00
IGL02485:Agl APN 3 116,572,729 (GRCm39) missense probably benign
IGL02644:Agl APN 3 116,580,246 (GRCm39) missense probably damaging 1.00
IGL02673:Agl APN 3 116,575,248 (GRCm39) missense probably benign 0.01
IGL02693:Agl APN 3 116,540,077 (GRCm39) missense possibly damaging 0.67
IGL02733:Agl APN 3 116,574,646 (GRCm39) missense probably benign
IGL03089:Agl APN 3 116,574,672 (GRCm39) missense probably damaging 1.00
IGL03271:Agl APN 3 116,572,776 (GRCm39) missense probably benign 0.00
ANU05:Agl UTSW 3 116,566,438 (GRCm39) missense possibly damaging 0.49
PIT4445001:Agl UTSW 3 116,565,109 (GRCm39) missense
R0013:Agl UTSW 3 116,570,257 (GRCm39) nonsense probably null
R0013:Agl UTSW 3 116,570,257 (GRCm39) nonsense probably null
R0022:Agl UTSW 3 116,587,485 (GRCm39) splice site probably null
R0092:Agl UTSW 3 116,587,453 (GRCm39) missense probably damaging 1.00
R0226:Agl UTSW 3 116,545,720 (GRCm39) missense probably damaging 1.00
R0440:Agl UTSW 3 116,552,455 (GRCm39) missense probably damaging 1.00
R0488:Agl UTSW 3 116,548,611 (GRCm39) nonsense probably null
R0504:Agl UTSW 3 116,580,433 (GRCm39) missense probably damaging 0.99
R0715:Agl UTSW 3 116,545,825 (GRCm39) missense probably damaging 1.00
R0893:Agl UTSW 3 116,546,935 (GRCm39) missense probably benign 0.04
R1403:Agl UTSW 3 116,576,246 (GRCm39) missense probably benign 0.12
R1403:Agl UTSW 3 116,576,246 (GRCm39) missense probably benign 0.12
R1432:Agl UTSW 3 116,540,342 (GRCm39) missense probably damaging 1.00
R1465:Agl UTSW 3 116,565,021 (GRCm39) missense probably benign 0.35
R1465:Agl UTSW 3 116,565,021 (GRCm39) missense probably benign 0.35
R1540:Agl UTSW 3 116,574,384 (GRCm39) missense probably benign 0.01
R1624:Agl UTSW 3 116,580,895 (GRCm39) missense probably benign 0.30
R1640:Agl UTSW 3 116,545,739 (GRCm39) missense probably benign 0.02
R1834:Agl UTSW 3 116,582,000 (GRCm39) missense probably benign 0.31
R1853:Agl UTSW 3 116,572,971 (GRCm39) nonsense probably null
R2004:Agl UTSW 3 116,574,914 (GRCm39) missense probably damaging 1.00
R2184:Agl UTSW 3 116,574,426 (GRCm39) missense probably benign 0.00
R2227:Agl UTSW 3 116,581,961 (GRCm39) missense possibly damaging 0.78
R3053:Agl UTSW 3 116,584,682 (GRCm39) missense probably damaging 1.00
R4181:Agl UTSW 3 116,540,279 (GRCm39) missense probably damaging 1.00
R4241:Agl UTSW 3 116,548,497 (GRCm39) intron probably benign
R4284:Agl UTSW 3 116,545,827 (GRCm39) missense possibly damaging 0.83
R4285:Agl UTSW 3 116,545,827 (GRCm39) missense possibly damaging 0.83
R4302:Agl UTSW 3 116,540,279 (GRCm39) missense probably damaging 1.00
R4791:Agl UTSW 3 116,580,177 (GRCm39) critical splice donor site probably null
R4854:Agl UTSW 3 116,572,267 (GRCm39) critical splice donor site probably null
R4968:Agl UTSW 3 116,582,175 (GRCm39) missense probably benign 0.31
R5075:Agl UTSW 3 116,587,456 (GRCm39) missense probably damaging 1.00
R5219:Agl UTSW 3 116,572,370 (GRCm39) missense possibly damaging 0.81
R5274:Agl UTSW 3 116,566,135 (GRCm39) missense probably damaging 1.00
R5347:Agl UTSW 3 116,584,814 (GRCm39) missense probably damaging 1.00
R5399:Agl UTSW 3 116,575,277 (GRCm39) missense probably damaging 1.00
R5511:Agl UTSW 3 116,582,209 (GRCm39) missense possibly damaging 0.81
R5763:Agl UTSW 3 116,547,009 (GRCm39) missense probably damaging 1.00
R5827:Agl UTSW 3 116,574,703 (GRCm39) missense probably damaging 1.00
R5964:Agl UTSW 3 116,587,423 (GRCm39) missense probably damaging 1.00
R5967:Agl UTSW 3 116,587,357 (GRCm39) missense probably benign 0.06
R5986:Agl UTSW 3 116,566,145 (GRCm39) missense probably damaging 1.00
R6127:Agl UTSW 3 116,551,978 (GRCm39) missense probably damaging 1.00
R6209:Agl UTSW 3 116,578,845 (GRCm39) nonsense probably null
R6252:Agl UTSW 3 116,580,878 (GRCm39) critical splice donor site probably null
R6337:Agl UTSW 3 116,580,426 (GRCm39) missense possibly damaging 0.65
R6366:Agl UTSW 3 116,584,766 (GRCm39) missense probably damaging 1.00
R6441:Agl UTSW 3 116,565,108 (GRCm39) missense probably benign 0.21
R6647:Agl UTSW 3 116,544,060 (GRCm39) missense probably damaging 1.00
R6678:Agl UTSW 3 116,546,969 (GRCm39) missense probably damaging 0.99
R6736:Agl UTSW 3 116,575,329 (GRCm39) missense probably damaging 0.98
R7141:Agl UTSW 3 116,546,935 (GRCm39) missense probably benign 0.04
R7143:Agl UTSW 3 116,585,670 (GRCm39) missense probably damaging 0.99
R7204:Agl UTSW 3 116,587,469 (GRCm39) missense probably benign 0.04
R7259:Agl UTSW 3 116,578,230 (GRCm39) missense probably damaging 1.00
R7393:Agl UTSW 3 116,584,805 (GRCm39) missense probably benign
R7426:Agl UTSW 3 116,552,404 (GRCm39) missense
R7559:Agl UTSW 3 116,545,764 (GRCm39) missense
R7587:Agl UTSW 3 116,585,736 (GRCm39) missense probably damaging 1.00
R7609:Agl UTSW 3 116,600,928 (GRCm39) missense possibly damaging 0.93
R7657:Agl UTSW 3 116,572,812 (GRCm39) missense
R7715:Agl UTSW 3 116,551,905 (GRCm39) missense
R7735:Agl UTSW 3 116,578,795 (GRCm39) missense probably benign 0.21
R7770:Agl UTSW 3 116,551,886 (GRCm39) critical splice donor site probably null
R7980:Agl UTSW 3 116,585,830 (GRCm39) missense probably benign 0.08
R8186:Agl UTSW 3 116,552,557 (GRCm39) missense possibly damaging 0.92
R8215:Agl UTSW 3 116,582,293 (GRCm39) missense probably damaging 1.00
R8336:Agl UTSW 3 116,566,495 (GRCm39) missense
R8709:Agl UTSW 3 116,566,121 (GRCm39) missense
R9545:Agl UTSW 3 116,582,338 (GRCm39) missense possibly damaging 0.96
X0065:Agl UTSW 3 116,574,979 (GRCm39) nonsense probably null
Z1177:Agl UTSW 3 116,574,685 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- ACTGAACGTGATTGCATCCCAAGTG -3'
(R):5'- GGCCCAACTTTACAAGGAAAAGCTG -3'

Sequencing Primer
(F):5'- ggcaagagacagaggcag -3'
(R):5'- CTTTACAAGGAAAAGCTGTCACTG -3'
Posted On 2014-08-20