Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03089:Agl'

418274

Institutional Source

Australian Phenomics Network (link to record)

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: 0.345) question?

Stock #

IGL03089

Quality Score

Status

Chromosome

Chromosomal Location

116533648-116601815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116574672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 709 (H709L)

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: H709L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: H709L

Domain	Start	End	E-Value	Type
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: H709L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: H709L

Domain	Start	End	E-Value	Type
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: ENSMUST00000159995
AA Change: H130L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125246
Gene: ENSMUSG00000033400
AA Change: H130L

Domain	Start	End	E-Value	Type
Pfam:hGDE_central	119	197	8.8e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160484
AA Change: H44L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400
AA Change: H44L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: H709L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: H709L

Domain	Start	End	E-Value	Type
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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	A	G	3: 95,584,556 (GRCm39)	S947P	probably damaging	Het
Alpi	T	A	1: 87,027,830 (GRCm39)	D250V	probably benign	Het
Anapc4	A	G	5: 53,023,740 (GRCm39)	S735G	probably benign	Het
Ank1	A	T	8: 23,594,848 (GRCm39)	I611L	probably benign	Het
Canx	A	G	11: 50,195,309 (GRCm39)	V253A	possibly damaging	Het
Cbfa2t3	A	T	8: 123,361,873 (GRCm39)	I383N	probably damaging	Het
Ccn3	C	T	15: 54,612,680 (GRCm39)	R230C	possibly damaging	Het
Cdc23	T	C	18: 34,767,513 (GRCm39)	Y519C	probably damaging	Het
Celsr3	T	A	9: 108,703,806 (GRCm39)	N96K	probably benign	Het
Clptm1	A	G	7: 19,371,072 (GRCm39)	Y355H	probably damaging	Het
Col6a5	C	T	9: 105,811,038 (GRCm39)	S827N	unknown	Het
Cyp21a1	G	T	17: 35,022,420 (GRCm39)		probably null	Het
Cyp24a1	T	G	2: 170,327,886 (GRCm39)	H452P	probably damaging	Het
Cyp2c39	T	A	19: 39,552,295 (GRCm39)	H329Q	probably benign	Het
D630003M21Rik	C	T	2: 158,058,664 (GRCm39)	R412Q	probably benign	Het
Dennd1b	G	A	1: 139,029,767 (GRCm39)	R308Q	possibly damaging	Het
Deup1	T	C	9: 15,519,096 (GRCm39)	S137G	possibly damaging	Het
Dmbt1	T	A	7: 130,712,778 (GRCm39)	I1583N	probably damaging	Het
Dvl1	G	A	4: 155,939,609 (GRCm39)	V320M	probably damaging	Het
Elmod3	A	G	6: 72,546,299 (GRCm39)	S254P	probably damaging	Het
Emsy	G	A	7: 98,286,473 (GRCm39)	Q226*	probably null	Het
Ephb6	C	A	6: 41,591,108 (GRCm39)	D88E	probably damaging	Het
Exoc1	A	G	5: 76,690,005 (GRCm39)	M182V	possibly damaging	Het
Fbxw4	T	G	19: 45,580,160 (GRCm39)		probably benign	Het
Fgr	A	G	4: 132,713,577 (GRCm39)	D35G	probably damaging	Het
Gm20547	A	T	17: 35,080,008 (GRCm39)	D366E	probably damaging	Het
Gucy1a1	T	C	3: 82,004,988 (GRCm39)	N599S	probably damaging	Het
Ighg2b	G	A	12: 113,270,298 (GRCm39)	P240L	probably damaging	Het
Jak3	A	G	8: 72,138,727 (GRCm39)	D975G	probably benign	Het
Klhl26	A	T	8: 70,908,283 (GRCm39)	N24K	probably benign	Het
Letm1	T	A	5: 33,918,202 (GRCm39)	E314D	probably damaging	Het
Lin54	A	T	5: 100,598,852 (GRCm39)	F319L	probably damaging	Het
Lrp5	A	T	19: 3,670,314 (GRCm39)		probably null	Het
Lvrn	T	C	18: 47,013,776 (GRCm39)	F486S	probably damaging	Het
Or1e19	T	C	11: 73,316,009 (GRCm39)	T267A	probably benign	Het
Or2h1b	A	G	17: 37,462,534 (GRCm39)	C110R	probably damaging	Het
Or4c113	T	C	2: 88,885,357 (GRCm39)	R138G	probably benign	Het
Or51m1	A	C	7: 103,578,329 (GRCm39)	I100L	probably benign	Het
Or8g54	A	T	9: 39,706,977 (GRCm39)	Y102F	probably benign	Het
Pramel24	A	G	4: 143,452,703 (GRCm39)	T45A	probably benign	Het
Sap30bp	T	A	11: 115,848,214 (GRCm39)	M112K	possibly damaging	Het
Sbno1	A	G	5: 124,525,374 (GRCm39)		probably benign	Het
Slc30a5	T	C	13: 100,950,338 (GRCm39)	I307V	probably benign	Het
Trim37	T	A	11: 87,080,963 (GRCm39)	D21E	probably damaging	Het
Usp34	T	C	11: 23,396,958 (GRCm39)	F614S	possibly damaging	Het
Usp39	A	C	6: 72,305,622 (GRCm39)	F387C	probably damaging	Het
Vipas39	C	T	12: 87,300,028 (GRCm39)	C149Y	probably damaging	Het
Vmn2r107	C	A	17: 20,595,974 (GRCm39)	H842Q	probably benign	Het
Vps18	T	A	2: 119,123,658 (GRCm39)	V195E	probably benign	Het
Vsx1	A	G	2: 150,527,510 (GRCm39)		probably benign	Het

Other mutations in Agl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2016-08-02