Incidental Mutation 'ANU05:Agl'
ID 262475
Institutional Source Beutler Lab
Gene Symbol Agl
Ensembl Gene ENSMUSG00000033400
Gene Name amylo-1,6-glucosidase, 4-alpha-glucanotransferase
Synonyms 9430004C13Rik, 9630046L06Rik, 1110061O17Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.360) question?
Stock # ANU05
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 116533648-116601815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116566438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 975 (I975T)
Ref Sequence ENSEMBL: ENSMUSP00000143582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040603] [ENSMUST00000159742] [ENSMUST00000161336] [ENSMUST00000162792]
AlphaFold F8VPN4
Predicted Effect probably benign
Transcript: ENSMUST00000040603
AA Change: I975T

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: I975T

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 possibly damaging
Transcript: ENSMUST00000159742
AA Change: I975T

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: I975T

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 unknown
Transcript: ENSMUST00000160484
AA Change: I310T
SMART Domains Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400
AA Change: I310T

DomainStartEndE-ValueType
Pfam:hGDE_central 33 310 2.8e-87 PFAM
Pfam:GDE_C 379 830 1.3e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161336
SMART Domains Protein: ENSMUSP00000123877
Gene: ENSMUSG00000033400

DomainStartEndE-ValueType
Pfam:hGDE_N 30 117 2.1e-29 PFAM
Pfam:hDGE_amylase 120 230 3.7e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162792
AA Change: I975T

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: I975T

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Acaca A G 11: 84,206,678 (GRCm39) K1513E probably damaging Het
Acacb T A 5: 114,363,931 (GRCm39) F1464Y probably benign Het
Adgrg6 G A 10: 14,286,274 (GRCm39) A1114V possibly damaging Het
Akap7 T C 10: 25,147,451 (GRCm39) H93R probably damaging Het
Arhgef11 T C 3: 87,640,481 (GRCm39) W1213R probably benign Het
Ccar1 T A 10: 62,592,428 (GRCm39) E708V probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cilp T C 9: 65,186,265 (GRCm39) S787P possibly damaging Het
Col6a3 G A 1: 90,730,014 (GRCm39) T1157I probably damaging Het
D630003M21Rik T C 2: 158,038,308 (GRCm39) Y1046C probably benign Het
Dock3 A G 9: 106,772,862 (GRCm39) S464P probably benign Het
Dusp19 A G 2: 80,454,618 (GRCm39) T113A probably benign Het
Dync1h1 A C 12: 110,615,538 (GRCm39) Y2957S probably benign Het
Epdr1 T C 13: 19,778,814 (GRCm39) Y94C probably damaging Het
Fcho1 A T 8: 72,165,191 (GRCm39) L422Q probably benign Het
Gca T A 2: 62,520,787 (GRCm39) Y210* probably null Het
Gpnmb T C 6: 49,032,615 (GRCm39) V513A probably benign Het
Irx4 A G 13: 73,415,786 (GRCm39) T192A probably damaging Het
Isca1 T C 13: 59,906,785 (GRCm39) T54A probably benign Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
L3mbtl1 T C 2: 162,812,100 (GRCm39) V715A probably benign Het
Lama1 G A 17: 68,045,865 (GRCm39) D257N probably damaging Het
Lgr5 T C 10: 115,314,439 (GRCm39) H166R probably damaging Het
M6pr A G 6: 122,289,218 (GRCm39) R9G probably benign Het
Nmt2 T G 2: 3,315,731 (GRCm39) S240R probably benign Het
Npas3 A G 12: 54,114,857 (GRCm39) E593G possibly damaging Het
Or8k30 G A 2: 86,339,513 (GRCm39) A237T possibly damaging Het
Pank4 T C 4: 155,059,103 (GRCm39) M412T probably damaging Het
Psd A G 19: 46,303,186 (GRCm39) V100A possibly damaging Het
Rab11fip3 T C 17: 26,235,087 (GRCm39) T28A probably damaging Het
Rnpepl1 A T 1: 92,847,468 (GRCm39) D685V probably benign Het
Rrad T C 8: 105,357,283 (GRCm39) E88G probably benign Het
Sdk2 T A 11: 113,733,906 (GRCm39) M846L probably benign Het
Sparcl1 A T 5: 104,242,581 (GRCm39) V36E possibly damaging Het
Spmip5 A T 19: 58,777,545 (GRCm39) H80Q probably damaging Het
Srrm4 C T 5: 116,605,628 (GRCm39) E210K unknown Het
Stk25 A T 1: 93,551,145 (GRCm39) probably null Het
Tacr3 A T 3: 134,635,810 (GRCm39) Y338F probably damaging Het
Tap2 A T 17: 34,428,184 (GRCm39) Q286L probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tubgcp5 C A 7: 55,458,277 (GRCm39) A396E possibly damaging Het
Ube2o T C 11: 116,430,960 (GRCm39) D980G probably damaging Het
Vmn1r86 T C 7: 12,836,433 (GRCm39) M98V probably benign Het
Vmn2r58 T A 7: 41,513,935 (GRCm39) H236L probably benign Het
Zfp521 T C 18: 13,950,303 (GRCm39) H1217R probably damaging Het
Zfyve1 A T 12: 83,601,779 (GRCm39) F110I 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
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
R0689:Agl UTSW 3 116,587,277 (GRCm39) missense probably damaging 1.00
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'- TGTTTCCACGCTACATCCAGCAG -3'
(R):5'- AGCAGCAAGGACATTTGACTCAACC -3'

Sequencing Primer
(F):5'- CTACATCCAGCAGAGTGGTGTATG -3'
(R):5'- ACCAACAGCTCAGTAATGTCTC -3'
Posted On 2015-02-04