Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01812:Ganc'

154290

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ganc

Ensembl Gene

ENSMUSG00000062646

Gene Name

glucosidase, alpha; neutral C

Synonyms

5830445O15Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.657) question?

Stock #

IGL01812

Quality Score

Status

Chromosome

Chromosomal Location

120403896-120461700 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120411526 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 62 (I62V)

Ref Sequence

ENSEMBL: ENSMUSP00000116898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000135074]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000043755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132835

Predicted Effect

probably benign
Transcript: ENSMUST00000135074
AA Change: I62V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116898
Gene: ENSMUSG00000062646
AA Change: I62V

Domain	Start	End	E-Value	Type
low complexity region	30	44	N/A	INTRINSIC
Pfam:Gal_mutarotas_2	221	292	2.3e-21	PFAM
Pfam:Glyco_hydro_31	333	778	2.5e-137	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154574

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154963

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2014]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	T	A	1: 37,625,365	D484V	probably benign	Het
4931428F04Rik	C	T	8: 105,284,657		probably benign	Het
Alpk3	A	G	7: 81,100,202	Y1456C	probably damaging	Het
Apobr	A	G	7: 126,587,922	D840G	probably damaging	Het
Cd300lf	T	C	11: 115,120,288	R175G	probably damaging	Het
Chil5	A	G	3: 106,017,152	S426P	possibly damaging	Het
Cngb3	T	G	4: 19,461,728	I536M	possibly damaging	Het
Cyp4f15	G	A	17: 32,686,157	R38H	probably benign	Het
Ddb1	A	C	19: 10,613,018	E303A	probably damaging	Het
Dis3l	T	A	9: 64,310,237	E822V	probably benign	Het
Erich3	T	C	3: 154,713,971	V234A	possibly damaging	Het
Evi5l	T	C	8: 4,193,219		probably null	Het
Exoc4	T	C	6: 33,757,959		probably benign	Het
Fam172a	T	A	13: 77,761,847	L27*	probably null	Het
Itpkb	T	C	1: 180,420,286	F823S	probably damaging	Het
Izumo2	A	G	7: 44,709,095	N14S	possibly damaging	Het
Nbas	T	C	12: 13,453,503	C1545R	probably damaging	Het
Olfr1213	A	T	2: 88,973,524	Y122*	probably null	Het
Pds5b	A	T	5: 150,780,689	R852S	probably damaging	Het
Polh	G	A	17: 46,172,911	A476V	probably benign	Het
Prune2	T	A	19: 17,003,777	D99E	possibly damaging	Het
Tdrd6	A	G	17: 43,625,174	V1661A	probably benign	Het
Tor1aip2	A	G	1: 156,059,539	S7G	probably benign	Het
Vps13a	A	G	19: 16,715,060	V830A	probably benign	Het
Vps39	G	A	2: 120,320,790		probably benign	Het
Zdhhc17	T	A	10: 110,948,217	H466L	possibly damaging	Het

Other mutations in Ganc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Ganc	APN	2	120441598	missense	probably damaging	1.00
IGL00913:Ganc	APN	2	120439452	splice site	probably benign
IGL01077:Ganc	APN	2	120446515	missense	possibly damaging	0.50
IGL01773:Ganc	APN	2	120459884	missense	possibly damaging	0.87
IGL02029:Ganc	APN	2	120459857	missense	probably benign	0.00
IGL02067:Ganc	APN	2	120406304	missense	probably benign	0.16
IGL02290:Ganc	APN	2	120448423	missense	possibly damaging	0.90
IGL02355:Ganc	APN	2	120433757	missense	probably damaging	1.00
IGL02362:Ganc	APN	2	120433757	missense	probably damaging	1.00
IGL02553:Ganc	APN	2	120458134	missense	probably benign
IGL02808:Ganc	APN	2	120411511	missense	probably benign	0.00
IGL02966:Ganc	APN	2	120433648	missense	probably damaging	1.00
IGL03356:Ganc	APN	2	120435288	missense	probably benign	0.22
IGL03405:Ganc	APN	2	120433766	missense	probably damaging	1.00
ingenuous	UTSW	2	120444149	missense	probably damaging	1.00
R0464:Ganc	UTSW	2	120436694	missense	probably benign	0.07
R0511:Ganc	UTSW	2	120448401	nonsense	probably null
R0932:Ganc	UTSW	2	120458129	missense	probably damaging	0.99
R1467:Ganc	UTSW	2	120430928	splice site	probably benign
R1902:Ganc	UTSW	2	120446482	missense	probably damaging	1.00
R2087:Ganc	UTSW	2	120457257	missense	probably damaging	1.00
R4668:Ganc	UTSW	2	120431067	missense	probably benign	0.02
R4669:Ganc	UTSW	2	120431067	missense	probably benign	0.02
R4725:Ganc	UTSW	2	120435273	missense	probably damaging	0.99
R4735:Ganc	UTSW	2	120436623	splice site	silent
R4738:Ganc	UTSW	2	120452594	missense	probably damaging	0.97
R4839:Ganc	UTSW	2	120459823	missense	probably benign
R4951:Ganc	UTSW	2	120456047	missense	probably benign	0.00
R5841:Ganc	UTSW	2	120411539	missense	possibly damaging	0.65
R5997:Ganc	UTSW	2	120430605	missense	possibly damaging	0.55
R6142:Ganc	UTSW	2	120430737	critical splice donor site	probably null
R6378:Ganc	UTSW	2	120433826	missense	probably damaging	1.00
R6711:Ganc	UTSW	2	120450839	missense	possibly damaging	0.74
R6777:Ganc	UTSW	2	120444149	missense	probably damaging	1.00
R7229:Ganc	UTSW	2	120427775	missense	possibly damaging	0.92
R7235:Ganc	UTSW	2	120433717	missense	probably damaging	1.00
R7241:Ganc	UTSW	2	120441529	missense	probably damaging	1.00
R7326:Ganc	UTSW	2	120430599	missense	probably damaging	1.00
R7567:Ganc	UTSW	2	120456101	missense	probably benign	0.01
R7685:Ganc	UTSW	2	120433792	missense	probably damaging	1.00
R7736:Ganc	UTSW	2	120433814	missense	possibly damaging	0.83
R7784:Ganc	UTSW	2	120436668	nonsense	probably null
X0027:Ganc	UTSW	2	120448450	missense	probably damaging	1.00

Posted On

2014-02-04