Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02673:Agl'

303024

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: 0.360) question?

Stock #

IGL02673

Quality Score

Status

Chromosome

Chromosomal Location

116533648-116601815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116575248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 630 (C630S)

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: C630S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: C630S

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 benign
Transcript: ENSMUST00000159742
AA Change: C630S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: C630S

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

unknown
Transcript: ENSMUST00000159995
AA Change: C51S

SMART Domains

Protein: ENSMUSP00000125246
Gene: ENSMUSG00000033400
AA Change: C51S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160484

SMART Domains

Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400

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 benign
Transcript: ENSMUST00000162792
AA Change: C630S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: C630S

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	A	14: 70,395,056 (GRCm39)	T33S	probably benign	Het
Abca4	T	C	3: 121,897,150 (GRCm39)	Y610H	probably damaging	Het
Alkbh6	G	T	7: 30,013,536 (GRCm39)	G202C	probably damaging	Het
Ascc3	A	T	10: 50,536,769 (GRCm39)	M701L	probably benign	Het
Bpgm	T	A	6: 34,464,769 (GRCm39)	L162Q	probably damaging	Het
Ccdc150	A	G	1: 54,368,149 (GRCm39)	T592A	probably benign	Het
Chpf2	G	A	5: 24,796,302 (GRCm39)	R416Q	probably benign	Het
Col14a1	G	A	15: 55,282,178 (GRCm39)	G813E	unknown	Het
Col18a1	C	T	10: 76,894,997 (GRCm39)	G983D	probably damaging	Het
Col5a1	C	T	2: 27,864,727 (GRCm39)	A737V	unknown	Het
Cyp2a22	T	G	7: 26,637,525 (GRCm39)	K157Q	probably benign	Het
Dhx57	A	G	17: 80,574,974 (GRCm39)	V668A	probably damaging	Het
Eps8l1	T	A	7: 4,481,731 (GRCm39)	V743E	probably damaging	Het
Fnbp4	C	T	2: 90,593,816 (GRCm39)	T557M	probably benign	Het
Fzd5	C	T	1: 64,774,265 (GRCm39)	E499K	possibly damaging	Het
Gm57858	A	C	3: 36,100,848 (GRCm39)		probably benign	Het
Il1r2	A	G	1: 40,154,323 (GRCm39)	Y230C	probably damaging	Het
Insrr	A	C	3: 87,720,368 (GRCm39)	E1002A	possibly damaging	Het
Kdm4a	C	T	4: 118,025,769 (GRCm39)	D146N	probably benign	Het
Kidins220	G	A	12: 25,044,991 (GRCm39)	V262M	probably damaging	Het
Kif26b	C	T	1: 178,649,170 (GRCm39)	P430L	probably damaging	Het
Mamdc4	T	C	2: 25,460,066 (GRCm39)	S62G	probably benign	Het
Mcu	C	A	10: 59,303,466 (GRCm39)	V124F	probably damaging	Het
Mlf1	A	G	3: 67,301,280 (GRCm39)	M98V	probably benign	Het
Mogs	T	C	6: 83,095,199 (GRCm39)	V672A	probably damaging	Het
Ntrk3	T	C	7: 77,900,512 (GRCm39)	D609G	probably damaging	Het
Or1n1	C	T	2: 36,750,188 (GRCm39)	M57I	probably benign	Het
Pdlim5	T	A	3: 142,058,548 (GRCm39)	E65D	probably damaging	Het
Peg3	T	C	7: 6,713,413 (GRCm39)	N603S	probably damaging	Het
Pkd1	A	G	17: 24,790,257 (GRCm39)	Y980C	probably benign	Het
Rack1	A	G	11: 48,691,357 (GRCm39)	T23A	probably benign	Het
Rad50	A	T	11: 53,579,067 (GRCm39)	I497K	probably benign	Het
Sin3a	C	A	9: 57,014,725 (GRCm39)	Q649K	probably damaging	Het
Sirt6	A	G	10: 81,461,671 (GRCm39)	F46L	probably damaging	Het
Slc40a1	A	T	1: 45,957,576 (GRCm39)	I136N	possibly damaging	Het
Sspo	G	A	6: 48,452,794 (GRCm39)	R2834H	probably damaging	Het
Sspo	G	T	6: 48,475,709 (GRCm39)		probably null	Het
Sycp2	T	A	2: 178,036,004 (GRCm39)	T228S	possibly damaging	Het
Uhrf2	T	A	19: 30,070,207 (GRCm39)	N785K	probably damaging	Het
Vmn2r58	T	A	7: 41,514,082 (GRCm39)	Y187F	possibly damaging	Het
Vmn2r80	A	G	10: 79,005,318 (GRCm39)	I318M	probably benign	Het
Vps13c	T	C	9: 67,785,380 (GRCm39)	L249P	probably damaging	Het
Zw10	T	A	9: 48,988,893 (GRCm39)		probably null	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
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
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

2015-04-16