Incidental Mutation 'R7770:Agl'
ID 598517
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 045826-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.360) question?
Stock # R7770 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 116533648-116601815 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 116551886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000040603] [ENSMUST00000159742] [ENSMUST00000161336] [ENSMUST00000162792]
AlphaFold F8VPN4
Predicted Effect probably null
Transcript: ENSMUST00000040603
SMART Domains Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400

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 null
Transcript: ENSMUST00000159742
SMART Domains Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400

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 null
Transcript: ENSMUST00000160484
SMART Domains Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400

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 null
Transcript: ENSMUST00000162792
SMART Domains Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (55/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,165,894 (GRCm39) V160E probably damaging Het
Abhd8 C T 8: 71,910,894 (GRCm39) G305S probably benign Het
Adamts20 A G 15: 94,231,579 (GRCm39) V870A probably benign Het
Cav3 A T 6: 112,449,147 (GRCm39) D55V probably damaging Het
Ccser2 T A 14: 36,648,831 (GRCm39) D556V probably damaging Het
Cdc20b T C 13: 113,215,193 (GRCm39) Y254H probably benign Het
Commd8 A G 5: 72,317,223 (GRCm39) L182S probably damaging Het
Cyp1b1 G A 17: 80,020,728 (GRCm39) A338V probably damaging Het
Def8 C A 8: 124,186,798 (GRCm39) D459E unknown Het
Dennd5b T C 6: 148,943,214 (GRCm39) Y554C probably damaging Het
Dnah7c A T 1: 46,665,460 (GRCm39) probably null Het
Dnajc5b T A 3: 19,633,181 (GRCm39) C135S probably benign Het
Dnpep G A 1: 75,293,890 (GRCm39) probably benign Het
Drc1 C T 5: 30,507,856 (GRCm39) Q293* probably null Het
Glmp A G 3: 88,233,077 (GRCm39) S72G probably benign Het
Gm5431 A T 11: 48,779,285 (GRCm39) S546T probably benign Het
Gnptab T A 10: 88,247,782 (GRCm39) C70S probably benign Het
Gpr83 G A 9: 14,778,170 (GRCm39) R180Q probably damaging Het
Gucy1a1 A T 3: 82,016,112 (GRCm39) L292Q possibly damaging Het
Gzmd T C 14: 56,368,720 (GRCm39) D58G probably damaging Het
Hoxa10 A G 6: 52,211,245 (GRCm39) S224P possibly damaging Het
Hoxa13 G A 6: 52,237,247 (GRCm39) probably benign Het
Igsf6 A G 7: 120,667,548 (GRCm39) V156A probably benign Het
Il6st A T 13: 112,639,338 (GRCm39) I649F probably damaging Het
Kcnh3 G A 15: 99,131,147 (GRCm39) V507M probably damaging Het
Lgr5 A G 10: 115,307,899 (GRCm39) I253T probably damaging Het
Met T A 6: 17,491,406 (GRCm39) V56D possibly damaging Het
Mettl22 A T 16: 8,303,764 (GRCm39) I277F possibly damaging Het
Nadsyn1 G A 7: 143,359,740 (GRCm39) R411W probably damaging Het
Nrros T G 16: 31,962,346 (GRCm39) E557A probably benign Het
Or10ak14 A T 4: 118,611,254 (GRCm39) H162Q probably benign Het
Or5w1 T C 2: 87,486,813 (GRCm39) I151V not run Het
Or8j3b C T 2: 86,205,604 (GRCm39) V51M possibly damaging Het
Pih1d2 G A 9: 50,533,101 (GRCm39) R243Q not run Het
Polr1b C A 2: 128,967,464 (GRCm39) F952L probably damaging Het
Ppp1r3a A G 6: 14,754,977 (GRCm39) V90A probably benign Het
Prmt9 T A 8: 78,285,814 (GRCm39) probably null Het
Rapgef4 T A 2: 72,028,739 (GRCm39) N385K possibly damaging Het
Rbm28 G A 6: 29,164,627 (GRCm39) probably benign Het
Rhobtb3 A T 13: 76,065,934 (GRCm39) S150T probably damaging Het
Serpinb6b T C 13: 33,161,512 (GRCm39) V195A probably benign Het
Sesn1 T A 10: 41,770,054 (GRCm39) I99N probably damaging Het
Setd1b G A 5: 123,296,815 (GRCm39) probably benign Het
Slc22a19 T A 19: 7,681,360 (GRCm39) probably null Het
Slc9a4 T C 1: 40,640,123 (GRCm39) I305T probably damaging Het
Smg6 T A 11: 74,884,687 (GRCm39) N3K unknown Het
Spta1 C A 1: 174,023,547 (GRCm39) Y651* probably null Het
Tatdn3 G A 1: 190,791,053 (GRCm39) P74S probably benign Het
Tet2 C T 3: 133,186,056 (GRCm39) R1127Q possibly damaging Het
Tgfbi T A 13: 56,780,657 (GRCm39) probably null Het
Tmprss9 A G 10: 80,733,903 (GRCm39) probably null Het
Tox4 T C 14: 52,517,299 (GRCm39) Y10H probably damaging Het
Trappc10 A T 10: 78,046,679 (GRCm39) S407T probably damaging Het
Vmn2r59 A G 7: 41,708,336 (GRCm39) C24R probably damaging Het
Wdr24 C A 17: 26,046,070 (GRCm39) A465D probably benign Het
Wfdc8 A G 2: 164,439,594 (GRCm39) S263P unknown Het
Zc3h15 T A 2: 83,488,476 (GRCm39) I138N possibly damaging 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
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
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'- CAATACTACCTTGAGAATTGGCTG -3'
(R):5'- CAGGGAAAGTACATGTCCTCACC -3'

Sequencing Primer
(F):5'- CTACCTTGAGAATTGGCTGACAAAAG -3'
(R):5'- CTCACCTTCCTAGAGTTGAGGG -3'
Posted On 2019-11-26