Incidental Mutation 'R6647:Agl'
ID 526113
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 044768-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.360) question?
Stock # R6647 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 116533648-116601815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116544060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1416 (T1416A)
Ref Sequence ENSEMBL: ENSMUSP00000124149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040603] [ENSMUST00000159742] [ENSMUST00000161336] [ENSMUST00000162792]
AlphaFold F8VPN4
Predicted Effect probably damaging
Transcript: ENSMUST00000040603
AA Change: T1416A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: T1416A

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 benign
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 unknown
Transcript: ENSMUST00000160484
AA Change: T751A
SMART Domains Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400
AA Change: T751A

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 damaging
Transcript: ENSMUST00000162792
AA Change: T1416A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: T1416A

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
Validation Efficiency 98% (53/54)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp7b A G 8: 22,518,494 (GRCm39) S103P probably damaging Het
Ces1h A C 8: 94,078,654 (GRCm39) *563G probably null Het
Cfap157 G T 2: 32,669,086 (GRCm39) A339E probably benign Het
Crebbp C T 16: 3,937,670 (GRCm39) A698T possibly damaging Het
Cyp2b13 A G 7: 25,785,324 (GRCm39) H231R possibly damaging Het
Ddx31 A T 2: 28,765,750 (GRCm39) T483S probably damaging Het
Defa25 A T 8: 21,575,201 (GRCm39) D60V possibly damaging Het
Dnah5 G A 15: 28,403,633 (GRCm39) A3453T probably benign Het
Dnah6 A T 6: 73,115,743 (GRCm39) F1500I probably damaging Het
Eprs1 C T 1: 185,146,621 (GRCm39) A1217V probably damaging Het
Ermp1 T C 19: 29,604,335 (GRCm39) Y481C probably benign Het
Fmn2 T A 1: 174,420,670 (GRCm39) N635K unknown Het
Fras1 A G 5: 96,883,061 (GRCm39) D2531G probably damaging Het
Frat1 C T 19: 41,819,264 (GRCm39) Q220* probably null Het
Gcc2 T A 10: 58,123,103 (GRCm39) probably null Het
Gm3285 T C 10: 77,698,447 (GRCm39) probably benign Het
Gm9857 T C 3: 108,847,379 (GRCm39) probably benign Het
Grin2b C A 6: 135,710,108 (GRCm39) W1146L probably damaging Het
Hells T A 19: 38,919,948 (GRCm39) L33I probably benign Het
Ift81 T A 5: 122,748,229 (GRCm39) R54* probably null Het
Ints12 G A 3: 132,802,639 (GRCm39) R41Q possibly damaging Het
Katnal2 C T 18: 77,067,733 (GRCm39) E403K probably benign Het
Kcnk1 A G 8: 126,722,199 (GRCm39) M1V probably null Het
Kdm5a A G 6: 120,389,422 (GRCm39) T950A probably benign Het
Kdr G A 5: 76,113,549 (GRCm39) A773V probably damaging Het
Lats1 G C 10: 7,573,271 (GRCm39) M118I possibly damaging Het
Mug1 A G 6: 121,817,200 (GRCm39) I90V probably benign Het
Nid2 A G 14: 19,852,484 (GRCm39) D1064G probably benign Het
Nkx2-4 A T 2: 146,926,187 (GRCm39) I225N possibly damaging Het
Nlrp4e A G 7: 23,020,740 (GRCm39) D409G probably benign Het
Ogfod2 G C 5: 124,252,866 (GRCm39) R292P possibly damaging Het
Oprk1 C T 1: 5,672,507 (GRCm39) P215S probably damaging Het
Or5d36 A T 2: 87,901,053 (GRCm39) F224L probably benign Het
Or6c35 T A 10: 129,169,033 (GRCm39) C94* probably null Het
Or7g27 T A 9: 19,249,925 (GRCm39) H56Q possibly damaging Het
Or8g21 T C 9: 38,906,210 (GRCm39) I174V possibly damaging Het
Pcdhb16 A G 18: 37,612,225 (GRCm39) K395R possibly damaging Het
Ptprg C A 14: 11,962,714 (GRCm38) P171T probably damaging Het
Pycard T C 7: 127,592,741 (GRCm39) T29A probably benign Het
Rap1gap2 G A 11: 74,298,754 (GRCm39) A452V probably benign Het
Rasgrf1 C G 9: 89,892,516 (GRCm39) T1072S probably benign Het
Rc3h2 G A 2: 37,272,956 (GRCm39) R707* probably null Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Senp7 T C 16: 55,993,618 (GRCm39) I767T probably damaging Het
Setd7 A G 3: 51,450,183 (GRCm39) V81A probably benign Het
Shisal2a A G 4: 108,225,224 (GRCm39) S113P probably benign Het
Shkbp1 A G 7: 27,041,800 (GRCm39) S685P probably benign Het
Snrnp200 A G 2: 127,068,372 (GRCm39) E904G probably damaging Het
Spata22 T A 11: 73,245,526 (GRCm39) probably null Het
Spata31e2 T A 1: 26,721,659 (GRCm39) N1174Y probably damaging Het
Tas2r138 G T 6: 40,589,733 (GRCm39) T171K possibly damaging Het
Tor1aip1 T C 1: 155,893,999 (GRCm39) D77G possibly damaging Het
Vav3 A T 3: 109,434,732 (GRCm39) H421L probably benign Het
Vmn1r43 A G 6: 89,846,841 (GRCm39) L215P probably damaging Het
Vmn2r100 T A 17: 19,742,785 (GRCm39) S386R probably benign Het
Xpa T A 4: 46,183,089 (GRCm39) R233S 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
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
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'- GGGTTAAACACAATTTCAACTGCC -3'
(R):5'- AGGTTCCACTCACCATCTGAC -3'

Sequencing Primer
(F):5'- AAACACAATTTCAACTGCCTTCTTC -3'
(R):5'- TGACCTACACCATATTCTTACATGAG -3'
Posted On 2018-06-22