Incidental Mutation 'R5274:Agl'
ID 403804
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 042837-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.360) question?
Stock # R5274 (G1)
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 116566135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 995 (L995P)
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: L995P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: L995P

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: ENSMUST00000159742
AA Change: L995P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: L995P

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: L330P
SMART Domains Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400
AA Change: L330P

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: L995P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: L995P

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: 99.5%
  • 3x: 98.9%
  • 10x: 98.0%
  • 20x: 96.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,092,856 (GRCm39) R155H probably benign Het
Ace T C 11: 105,858,863 (GRCm39) M19T probably benign Het
AY761185 T C 8: 21,433,889 (GRCm39) N90S unknown Het
Brca2 T C 5: 150,463,154 (GRCm39) S973P probably benign Het
Cacna1e T C 1: 154,576,250 (GRCm39) T66A probably damaging Het
Cbarp T C 10: 79,967,649 (GRCm39) S531G possibly damaging Het
Cby2 A G 14: 75,820,666 (GRCm39) V362A probably benign Het
Cd96 G T 16: 45,890,066 (GRCm39) T319K possibly damaging Het
Ceacam23 T C 7: 17,649,642 (GRCm39) probably null Het
Chil5 A C 3: 105,936,169 (GRCm39) F41C probably damaging Het
Col24a1 A C 3: 145,190,433 (GRCm39) E1239D probably benign Het
Dip2b A G 15: 100,109,985 (GRCm39) E1490G possibly damaging Het
Dync1li1 T C 9: 114,544,273 (GRCm39) V315A possibly damaging Het
Dync2h1 T C 9: 7,116,540 (GRCm39) S99G probably benign Het
Dynlt5 A T 4: 102,859,768 (GRCm39) T103S possibly damaging Het
E2f8 C T 7: 48,516,925 (GRCm39) R818H probably damaging Het
Eomes T C 9: 118,309,597 (GRCm39) V250A probably damaging Het
Esyt3 T C 9: 99,200,350 (GRCm39) T615A probably benign Het
Fbxo38 A T 18: 62,648,140 (GRCm39) D799E probably damaging Het
Fdft1 A G 14: 63,389,792 (GRCm39) F288S probably damaging Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Gm4871 C G 5: 144,967,180 (GRCm39) E185Q probably damaging Het
Gm5901 C A 7: 105,026,655 (GRCm39) P141Q probably damaging Het
Herc1 T A 9: 66,306,691 (GRCm39) I933N probably benign Het
Ifih1 T C 2: 62,442,062 (GRCm39) Q385R probably benign Het
Ighmbp2 T C 19: 3,315,518 (GRCm39) E634G probably damaging Het
Klk6 C G 7: 43,478,553 (GRCm39) probably null Het
Kmt2d A G 15: 98,752,111 (GRCm39) probably benign Het
Lig3 T A 11: 82,688,118 (GRCm39) probably null Het
Lrp1b T C 2: 41,234,456 (GRCm39) D310G probably null Het
Mroh6 A G 15: 75,756,849 (GRCm39) V571A possibly damaging Het
Olfm5 A G 7: 103,809,190 (GRCm39) S132P probably damaging Het
Or52n20 T C 7: 104,320,733 (GRCm39) S275P probably damaging Het
Or5p64 A T 7: 107,854,842 (GRCm39) F168I probably benign Het
Pacc1 T C 1: 191,080,665 (GRCm39) V295A probably damaging Het
Patj G C 4: 98,407,218 (GRCm39) S4T probably damaging Het
Pcdhga12 T A 18: 37,899,475 (GRCm39) C102* probably null Het
Pik3ap1 T C 19: 41,270,391 (GRCm39) D766G possibly damaging Het
Plch2 A T 4: 155,083,411 (GRCm39) L408Q probably damaging Het
Pnma2 G T 14: 67,154,209 (GRCm39) R211L probably damaging Het
Prkg2 T A 5: 99,117,850 (GRCm39) H468L probably damaging Het
Rad1 T A 15: 10,488,059 (GRCm39) probably null Het
Rims3 A G 4: 120,748,571 (GRCm39) D264G probably damaging Het
Rnf123 AT ATT 9: 107,941,202 (GRCm39) probably null Het
Rrm2 T A 12: 24,760,406 (GRCm39) Y75* probably null Het
Sall3 T C 18: 81,013,052 (GRCm39) N1128S probably benign Het
Slc26a5 T C 5: 22,018,899 (GRCm39) T610A possibly damaging Het
Snx29 G T 16: 11,556,268 (GRCm39) E766D probably damaging Het
Sox17 A G 1: 4,562,111 (GRCm39) V298A possibly damaging Het
Ss18 G A 18: 14,774,106 (GRCm39) Q228* probably null Het
Tas2r121 A G 6: 132,677,811 (GRCm39) S54P probably damaging Het
Ttc21b T C 2: 66,066,627 (GRCm39) E342G possibly damaging Het
Ubap2l A G 3: 89,920,037 (GRCm39) Y818H probably damaging Het
Usp15 C A 10: 123,004,256 (GRCm39) R166I probably damaging Het
Vmn1r34 T G 6: 66,614,123 (GRCm39) H205P probably damaging Het
Vmn2r22 A T 6: 123,627,593 (GRCm39) M1K probably null Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Zdhhc1 T C 8: 106,210,402 (GRCm39) N5S probably benign Het
Zfp758 T A 17: 22,594,836 (GRCm39) C441S probably benign Het
Zp2 T C 7: 119,737,315 (GRCm39) E291G 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
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'- TGCGTCTGTGATAGTTCCTC -3'
(R):5'- GATAAGTCACAGCTTCCTCAGGC -3'

Sequencing Primer
(F):5'- CAGGTTTTGGTCTTTTACAATCATG -3'
(R):5'- ACAGCTTCCTCAGGCCAGTTTC -3'
Posted On 2016-07-22