Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02733:Agl'

305562

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

Is this an essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

IGL02733

Quality Score

Status

Chromosome

Chromosomal Location

116739999-116808166 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116780997 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 718 (I718V)

Ref Sequence

ENSEMBL: ENSMUSP00000124149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040603] [ENSMUST00000159742] [ENSMUST00000161336] [ENSMUST00000162792]

Predicted Effect

probably benign
Transcript: ENSMUST00000040603
AA Change: I718V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: I718V

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: I718V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: I718V

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: I139V

SMART Domains

Protein: ENSMUSP00000125246
Gene: ENSMUSG00000033400
AA Change: I139V

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

Predicted Effect

unknown
Transcript: ENSMUST00000160484
AA Change: I53V

SMART Domains

Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400
AA Change: I53V

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: I718V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: I718V

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	T	A	4: 49,447,793	T245S	probably benign	Het
Cbs	T	A	17: 31,625,031	N209Y	probably benign	Het
Cd163	T	C	6: 124,325,341	C955R	probably damaging	Het
Dnajb3	A	G	1: 88,204,940		probably benign	Het
Dopey2	G	A	16: 93,739,191	R59Q	possibly damaging	Het
Dtx1	A	G	5: 120,681,435	L566P	probably damaging	Het
Fam198a	A	G	9: 121,965,028	R83G	probably benign	Het
Fgf14	G	T	14: 123,983,801	P197Q	probably damaging	Het
Gcc1	G	A	6: 28,420,662	Q66*	probably null	Het
Gypc	T	C	18: 32,559,826		probably benign	Het
Helz2	G	A	2: 181,235,026	A1225V	probably benign	Het
Herc1	A	G	9: 66,450,992	T2452A	probably benign	Het
Hoxc4	A	G	15: 103,034,726	I2V	probably benign	Het
Impa1	A	G	3: 10,328,965	I14T	probably benign	Het
Itih1	T	A	14: 30,936,720	D400V	probably damaging	Het
Lama3	T	C	18: 12,578,127	Y3206H	probably damaging	Het
Lce1k	T	A	3: 92,806,885		probably benign	Het
Mcpt4	C	T	14: 56,060,667	M142I	probably benign	Het
Myo15b	A	G	11: 115,884,250	E2168G	probably benign	Het
Myom3	G	T	4: 135,814,303	E1402*	probably null	Het
Nfyb	G	T	10: 82,755,033	Q55K	probably damaging	Het
Nobox	T	C	6: 43,307,202	K137E	possibly damaging	Het
Pnlip	T	A	19: 58,680,788	D406E	probably benign	Het
Pole	A	T	5: 110,312,728		probably benign	Het
Ppp2r2b	T	C	18: 42,648,728	Y336C	possibly damaging	Het
Prkg1	T	C	19: 31,302,301	T178A	probably damaging	Het
Prr11	C	T	11: 87,103,545	A92T	possibly damaging	Het
Racgap1	G	T	15: 99,639,704	S67R	probably damaging	Het
Scn10a	G	A	9: 119,616,705	P1462S	probably damaging	Het
Sptbn1	T	C	11: 30,197,747	E29G	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Vmn2r72	T	A	7: 85,751,813	T133S	probably benign	Het
Zbtb20	A	G	16: 43,609,933	H269R	possibly damaging	Het
Zwilch	A	T	9: 64,146,836	N526K	probably benign	Het

Other mutations in Agl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Agl	APN	3	116771483	missense	probably benign	0.10
IGL00500:Agl	APN	3	116772820	missense	probably damaging	1.00
IGL00691:Agl	APN	3	116779258	missense	possibly damaging	0.46
IGL00711:Agl	APN	3	116793627	missense	probably damaging	1.00
IGL01291:Agl	APN	3	116772789	missense	possibly damaging	0.49
IGL01641:Agl	APN	3	116784455	nonsense	probably null
IGL01860:Agl	APN	3	116772526	splice site	probably benign
IGL01893:Agl	APN	3	116788549	missense	probably damaging	0.97
IGL02193:Agl	APN	3	116779166	missense	probably damaging	0.99
IGL02379:Agl	APN	3	116779091	missense	probably damaging	1.00
IGL02485:Agl	APN	3	116779080	missense	probably benign
IGL02644:Agl	APN	3	116786597	missense	probably damaging	1.00
IGL02673:Agl	APN	3	116781599	missense	probably benign	0.01
IGL02693:Agl	APN	3	116746428	missense	possibly damaging	0.67
IGL03089:Agl	APN	3	116781023	missense	probably damaging	1.00
IGL03271:Agl	APN	3	116779127	missense	probably benign	0.00
ANU05:Agl	UTSW	3	116772789	missense	possibly damaging	0.49
PIT4445001:Agl	UTSW	3	116771460	missense
R0013:Agl	UTSW	3	116776608	nonsense	probably null
R0013:Agl	UTSW	3	116776608	nonsense	probably null
R0022:Agl	UTSW	3	116793836	splice site	probably null
R0092:Agl	UTSW	3	116793804	missense	probably damaging	1.00
R0226:Agl	UTSW	3	116752071	missense	probably damaging	1.00
R0440:Agl	UTSW	3	116758806	missense	probably damaging	1.00
R0488:Agl	UTSW	3	116754962	nonsense	probably null
R0504:Agl	UTSW	3	116786784	missense	probably damaging	0.99
R0689:Agl	UTSW	3	116793628	missense	probably damaging	1.00
R0715:Agl	UTSW	3	116752176	missense	probably damaging	1.00
R0893:Agl	UTSW	3	116753286	missense	probably benign	0.04
R1403:Agl	UTSW	3	116782597	missense	probably benign	0.12
R1403:Agl	UTSW	3	116782597	missense	probably benign	0.12
R1432:Agl	UTSW	3	116746693	missense	probably damaging	1.00
R1465:Agl	UTSW	3	116771372	missense	probably benign	0.35
R1465:Agl	UTSW	3	116771372	missense	probably benign	0.35
R1540:Agl	UTSW	3	116780735	missense	probably benign	0.01
R1624:Agl	UTSW	3	116787246	missense	probably benign	0.30
R1640:Agl	UTSW	3	116752090	missense	probably benign	0.02
R1834:Agl	UTSW	3	116788351	missense	probably benign	0.31
R1853:Agl	UTSW	3	116779322	nonsense	probably null
R2004:Agl	UTSW	3	116781265	missense	probably damaging	1.00
R2184:Agl	UTSW	3	116780777	missense	probably benign	0.00
R2227:Agl	UTSW	3	116788312	missense	possibly damaging	0.78
R3053:Agl	UTSW	3	116791033	missense	probably damaging	1.00
R4181:Agl	UTSW	3	116746630	missense	probably damaging	1.00
R4241:Agl	UTSW	3	116754848	intron	probably benign
R4284:Agl	UTSW	3	116752178	missense	possibly damaging	0.83
R4285:Agl	UTSW	3	116752178	missense	possibly damaging	0.83
R4302:Agl	UTSW	3	116746630	missense	probably damaging	1.00
R4791:Agl	UTSW	3	116786528	critical splice donor site	probably null
R4854:Agl	UTSW	3	116778618	critical splice donor site	probably null
R4968:Agl	UTSW	3	116788526	missense	probably benign	0.31
R5075:Agl	UTSW	3	116793807	missense	probably damaging	1.00
R5219:Agl	UTSW	3	116778721	missense	possibly damaging	0.81
R5274:Agl	UTSW	3	116772486	missense	probably damaging	1.00
R5347:Agl	UTSW	3	116791165	missense	probably damaging	1.00
R5399:Agl	UTSW	3	116781628	missense	probably damaging	1.00
R5511:Agl	UTSW	3	116788560	missense	possibly damaging	0.81
R5763:Agl	UTSW	3	116753360	missense	probably damaging	1.00
R5827:Agl	UTSW	3	116781054	missense	probably damaging	1.00
R5964:Agl	UTSW	3	116793774	missense	probably damaging	1.00
R5967:Agl	UTSW	3	116793708	missense	probably benign	0.06
R5986:Agl	UTSW	3	116772496	missense	probably damaging	1.00
R6127:Agl	UTSW	3	116758329	missense	probably damaging	1.00
R6209:Agl	UTSW	3	116785196	nonsense	probably null
R6252:Agl	UTSW	3	116787229	critical splice donor site	probably null
R6337:Agl	UTSW	3	116786777	missense	possibly damaging	0.65
R6366:Agl	UTSW	3	116791117	missense	probably damaging	1.00
R6441:Agl	UTSW	3	116771459	missense	probably benign	0.21
R6647:Agl	UTSW	3	116750411	missense	probably damaging	1.00
R6678:Agl	UTSW	3	116753320	missense	probably damaging	0.99
R6736:Agl	UTSW	3	116781680	missense	probably damaging	0.98
R7141:Agl	UTSW	3	116753286	missense	probably benign	0.04
R7143:Agl	UTSW	3	116792021	missense	probably damaging	0.99
R7204:Agl	UTSW	3	116793820	missense	probably benign	0.04
R7259:Agl	UTSW	3	116784581	missense	probably damaging	1.00
R7393:Agl	UTSW	3	116791156	missense	probably benign
R7426:Agl	UTSW	3	116758755	missense
R7559:Agl	UTSW	3	116752115	missense
R7587:Agl	UTSW	3	116792087	missense	probably damaging	1.00
R7609:Agl	UTSW	3	116807279	missense	possibly damaging	0.93
R7657:Agl	UTSW	3	116779163	missense
R7715:Agl	UTSW	3	116758256	missense
R7735:Agl	UTSW	3	116785146	missense	probably benign	0.21
R7770:Agl	UTSW	3	116758237	critical splice donor site	probably null
X0065:Agl	UTSW	3	116781330	nonsense	probably null
Z1177:Agl	UTSW	3	116781036	missense

Posted On

2015-04-16