Mutagenetix > Incidental Mutation

Incidental Mutation 'R4897:Ganab'

375852

Institutional Source

Beutler Lab

Gene Symbol

Ganab

Ensembl Gene

ENSMUSG00000071650

Gene Name

alpha glucosidase 2 alpha neutral subunit

Synonyms

G2an, GluII

MMRRC Submission

042501-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R4897 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8898090-8916663 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8914991 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 844 (C844S)

Ref Sequence

ENSEMBL: ENSMUSP00000093965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096246]

AlphaFold

Q8BHN3

Predicted Effect

probably benign
Transcript: ENSMUST00000096246
AA Change: C844S

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000093965
Gene: ENSMUSG00000071650
AA Change: C844S

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
low complexity region	157	169	N/A	INTRINSIC
Pfam:Gal_mutarotas_2	275	346	3.9e-24	PFAM
Pfam:Glyco_hydro_31	387	832	8.7e-136	PFAM
low complexity region	888	898	N/A	INTRINSIC

Meta Mutation Damage Score

0.0847

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	C	A	2: 35,376,297	M120I	probably damaging	Het
4933427D14Rik	A	T	11: 72,191,516	L328Q	probably damaging	Het
Adgrv1	A	C	13: 81,561,585		probably null	Het
Ankrd46	A	T	15: 36,484,133		probably benign	Het
Arhgef18	A	T	8: 3,444,979	M413L	probably benign	Het
Atp6v1e1	G	A	6: 120,804,083	T87M	probably null	Het
Bap1	T	C	14: 31,258,445		probably benign	Het
Brf1	A	G	12: 112,965,887	L385P	probably benign	Het
C1qtnf1	A	T	11: 118,448,112	N203Y	probably damaging	Het
Catsperb	A	T	12: 101,602,766	N899I	probably damaging	Het
Ccnjl	A	C	11: 43,579,891	D162A	probably damaging	Het
Cd248	A	C	19: 5,069,167	I348L	probably benign	Het
Cdc20	T	C	4: 118,435,832	T265A	probably benign	Het
Cdca5	T	A	19: 6,090,397	L196*	probably null	Het
Cdk4	T	A	10: 127,064,575		probably benign	Het
Cldn10	G	A	14: 118,788,313	G53S	possibly damaging	Het
Clec4b2	G	T	6: 123,201,040	E105*	probably null	Het
Dapk1	T	A	13: 60,761,786	D1404E	probably benign	Het
Dnah1	T	C	14: 31,267,539	Y3308C	probably damaging	Het
Dnah17	A	C	11: 118,078,593	Y2260D	probably damaging	Het
Dock8	T	G	19: 25,181,637	S1720A	probably benign	Het
Erc1	A	G	6: 119,777,986		probably null	Het
Ergic1	A	G	17: 26,629,623	I66V	probably benign	Het
Fam186a	T	C	15: 99,945,277	T1029A	possibly damaging	Het
Fat4	A	T	3: 38,980,632	Y2811F	probably damaging	Het
Flt3	A	G	5: 147,369,300	M310T	probably damaging	Het
Gas2l2	C	A	11: 83,429,215	V72F	probably damaging	Het
Gm14401	T	A	2: 177,086,780	C220S	probably damaging	Het
Gm9745	T	G	13: 8,940,601		probably benign	Het
Hmmr	A	T	11: 40,728,434	V73E	probably benign	Het
Ifih1	G	T	2: 62,635,014		probably benign	Het
Jak3	A	G	8: 71,685,404	E833G	probably damaging	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643		probably null	Het
Ldb1	G	A	19: 46,034,693	A217V	probably benign	Het
Lrrc8c	A	G	5: 105,608,089	T577A	probably benign	Het
Mfn1	T	A	3: 32,546,562		probably benign	Het
Mki67	G	A	7: 135,696,745	P2187S	probably damaging	Het
Mrc1	T	A	2: 14,319,141	D1096E	probably benign	Het
Msi1	A	G	5: 115,435,595		probably benign	Het
Msto1	T	A	3: 88,912,252	I152F	probably benign	Het
Myo9a	A	G	9: 59,896,517	R2060G	probably benign	Het
Nnt	A	T	13: 119,404,571	C44*	probably null	Het
Nup210l	A	G	3: 90,193,071	D1468G	probably damaging	Het
Olfr1176	C	A	2: 88,344,342	C129F	possibly damaging	Het
Olfr1257	A	G	2: 89,881,132	E102G	probably benign	Het
Olfr19	T	C	16: 16,673,618	D121G	probably damaging	Het
Olfr345	T	C	2: 36,640,894	L285P	probably damaging	Het
P2rx3	G	A	2: 85,024,926	T62I	probably damaging	Het
Pabpc4l	G	T	3: 46,447,143	T22K	probably damaging	Het
Pcdha7	A	G	18: 36,975,593	D557G	probably damaging	Het
Pcdhb20	A	G	18: 37,506,245	K608R	possibly damaging	Het
Pcnx	A	G	12: 81,918,165	S369G	probably damaging	Het
Plod1	T	C	4: 147,920,279	I455V	probably benign	Het
Prune2	A	T	19: 17,121,855	E1574D	probably benign	Het
Ptar1	T	A	19: 23,703,108	L96H	probably damaging	Het
Rabgap1	T	C	2: 37,560,571	S904P	probably benign	Het
Rps6ka4	C	T	19: 6,838,099	V176I	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Runx1t1	T	A	4: 13,771,459	M1K	probably null	Het
Serinc4	T	A	2: 121,452,424	Y419F	probably damaging	Het
Serpina12	A	T	12: 104,037,797	M192K	possibly damaging	Het
Spata21	T	A	4: 141,104,950	M474K	probably damaging	Het
Stpg1	T	C	4: 135,519,365	S135P	possibly damaging	Het
Tdrkh	A	G	3: 94,429,364	D481G	probably damaging	Het
Ube2e1	A	C	14: 18,285,268	S68R	probably damaging	Het
Vcpip1	A	C	1: 9,747,347	N270K	probably damaging	Het
Vmn2r79	T	C	7: 87,001,467	F154L	probably benign	Het
Vwa3b	A	G	1: 37,114,603		probably benign	Het
Xdh	C	A	17: 73,900,708	V885L	probably benign	Het
Zfp141	A	T	7: 42,476,205	V281D	probably benign	Het
Zfp317	T	A	9: 19,646,847	I119N	probably benign	Het
Zfp345	G	A	2: 150,472,688	R310C	probably benign	Het
Zfp760	G	A	17: 21,723,248	C468Y	probably benign	Het

Other mutations in Ganab

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Ganab	APN	19	8902595	missense	probably benign
IGL00434:Ganab	APN	19	8907343	missense	probably damaging	1.00
IGL01415:Ganab	APN	19	8914694	splice site	probably benign
IGL02418:Ganab	APN	19	8911069	missense	probably null	0.97
IGL02886:Ganab	APN	19	8911027	splice site	probably benign
IGL02997:Ganab	APN	19	8915412	missense	probably benign	0.00
IGL03108:Ganab	APN	19	8912476	missense	probably damaging	1.00
R0240:Ganab	UTSW	19	8912813	missense	possibly damaging	0.58
R0240:Ganab	UTSW	19	8912813	missense	possibly damaging	0.58
R0349:Ganab	UTSW	19	8911652	missense	probably null	0.11
R0457:Ganab	UTSW	19	8907250	missense	possibly damaging	0.92
R0551:Ganab	UTSW	19	8907280	missense	probably benign	0.35
R0645:Ganab	UTSW	19	8911113	missense	probably damaging	1.00
R0652:Ganab	UTSW	19	8915402	critical splice acceptor site	probably null
R0688:Ganab	UTSW	19	8911113	missense	probably damaging	1.00
R0726:Ganab	UTSW	19	8911113	missense	probably damaging	1.00
R1427:Ganab	UTSW	19	8915666	missense	probably benign	0.00
R1946:Ganab	UTSW	19	8910808	missense	probably damaging	1.00
R1955:Ganab	UTSW	19	8911616	nonsense	probably null
R2173:Ganab	UTSW	19	8902260	unclassified	probably benign
R2280:Ganab	UTSW	19	8909468	missense	probably damaging	1.00
R2281:Ganab	UTSW	19	8909468	missense	probably damaging	1.00
R5224:Ganab	UTSW	19	8910591	missense	probably benign	0.35
R5269:Ganab	UTSW	19	8911937	missense	probably damaging	1.00
R5323:Ganab	UTSW	19	8908685	missense	probably benign	0.00
R5850:Ganab	UTSW	19	8911707	missense	probably damaging	1.00
R6469:Ganab	UTSW	19	8902632	critical splice donor site	probably null
R6911:Ganab	UTSW	19	8907788	splice site	probably null
R7284:Ganab	UTSW	19	8912540	missense	probably damaging	1.00
R7412:Ganab	UTSW	19	8912528	missense	probably benign	0.01
R7413:Ganab	UTSW	19	8904975	missense	probably benign	0.01
R7466:Ganab	UTSW	19	8914569	nonsense	probably null
R7586:Ganab	UTSW	19	8911352	missense	possibly damaging	0.76
R7657:Ganab	UTSW	19	8907357	missense	probably damaging	0.99
R7671:Ganab	UTSW	19	8912852	missense	possibly damaging	0.94
R7729:Ganab	UTSW	19	8914712	missense	probably benign	0.24
R8223:Ganab	UTSW	19	8910828	missense	probably damaging	1.00
R8873:Ganab	UTSW	19	8910879	nonsense	probably null
R9264:Ganab	UTSW	19	8912864	missense	possibly damaging	0.81
R9388:Ganab	UTSW	19	8914938	missense	probably damaging	1.00
R9447:Ganab	UTSW	19	8909530	missense	probably damaging	0.99
R9450:Ganab	UTSW	19	8915712	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGAGTATATCTCTCTAGCTGCCATC -3'
(R):5'- AAAGAGCTCTCCTTGGGCAG -3'

Sequencing Primer
(F):5'- AGCTGCCATCTCTGTTTGCTTG -3'
(R):5'- GGCAGTACCCTGTGCAG -3'

Posted On

2016-03-17