Mutagenetix > Incidental Mutation

Incidental Mutation 'R6911:Ganab'

539056

Institutional Source

Beutler Lab

Gene Symbol

Ganab

Ensembl Gene

ENSMUSG00000071650

Gene Name

alpha glucosidase 2 alpha neutral subunit

Synonyms

G2an, GluII

MMRRC Submission

045003-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R6911 (G1)

Quality Score

213.009

Status

Validated

Chromosome

Chromosomal Location

8875435-8894036 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 8885152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000093965 (fasta)

Gene Model

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

AlphaFold

Q8BHN3

Predicted Effect

probably null
Transcript: ENSMUST00000096246

SMART Domains

Protein: ENSMUSP00000093965
Gene: ENSMUSG00000071650

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.1%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,948,068 (GRCm39)	M655K	probably benign	Het
Adam34l	A	T	8: 44,078,146 (GRCm39)	F693I	probably benign	Het
Amt	G	T	9: 108,178,428 (GRCm39)		probably null	Het
Anapc7	A	T	5: 122,578,343 (GRCm39)	K443*	probably null	Het
Apcs	A	G	1: 172,721,752 (GRCm39)	V198A	probably benign	Het
Atp2a1	A	G	7: 126,056,008 (GRCm39)	V271A	probably damaging	Het
Bltp2	T	A	11: 78,159,179 (GRCm39)	I459N	probably damaging	Het
Cdh20	T	C	1: 104,912,411 (GRCm39)	I555T	possibly damaging	Het
Cgnl1	T	C	9: 71,563,497 (GRCm39)	E810G	possibly damaging	Het
Cntnap5c	A	G	17: 58,199,009 (GRCm39)	D101G	probably damaging	Het
Coq7	T	A	7: 118,109,385 (GRCm39)	H221L	unknown	Het
Depdc5	A	T	5: 33,081,536 (GRCm39)	Q566L	probably damaging	Het
Dync1i2	G	A	2: 71,077,446 (GRCm39)	V233I	probably benign	Het
Erp44	G	T	4: 48,204,268 (GRCm39)	H298N	probably benign	Het
Fam162a	A	G	16: 35,866,747 (GRCm39)		probably null	Het
Fancd2	A	G	6: 113,525,346 (GRCm39)	E274G	probably damaging	Het
Fkbp15	G	T	4: 62,258,527 (GRCm39)	Q147K	probably damaging	Het
Gfm1	T	C	3: 67,358,636 (GRCm39)	V409A	possibly damaging	Het
Gnptab	G	A	10: 88,267,258 (GRCm39)	G450S	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grid1	A	T	14: 34,542,185 (GRCm39)	M1L	probably benign	Het
Helz	C	T	11: 107,510,051 (GRCm39)	T558I	probably benign	Het
Htra4	A	G	8: 25,515,721 (GRCm39)	V439A	probably damaging	Het
Kctd17	A	G	15: 78,318,206 (GRCm39)	E95G	probably damaging	Het
Kif18b	T	C	11: 102,807,206 (GRCm39)	D43G	probably damaging	Het
Lrpprc	G	A	17: 85,063,711 (GRCm39)	S550L	possibly damaging	Het
Lrrfip1	T	A	1: 91,042,529 (GRCm39)	C311*	probably null	Het
Mcoln2	C	T	3: 145,898,011 (GRCm39)	T44I	probably damaging	Het
Med13l	A	G	5: 118,893,723 (GRCm39)	T2010A	possibly damaging	Het
Med23	C	T	10: 24,778,079 (GRCm39)	T803M	probably damaging	Het
Mfsd13a	T	C	19: 46,357,716 (GRCm39)	F290S	probably damaging	Het
Myh13	C	T	11: 67,245,753 (GRCm39)	Q1095*	probably null	Het
Nktr	C	A	9: 121,583,392 (GRCm39)	Y93*	probably null	Het
Nox3	A	G	17: 3,736,198 (GRCm39)	S143P	probably damaging	Het
Ntrk2	A	T	13: 59,007,029 (GRCm39)	E210D	probably damaging	Het
Nup210	G	T	6: 91,007,112 (GRCm39)	A568E	probably damaging	Het
Or10ak9	T	A	4: 118,726,335 (GRCm39)	M119K	probably damaging	Het
Or2y1g	A	G	11: 49,171,634 (GRCm39)	I220V	probably benign	Het
Or4g16	A	G	2: 111,136,618 (GRCm39)	T23A	probably benign	Het
Or5as1	T	A	2: 86,980,111 (GRCm39)	K298I	probably damaging	Het
Pdlim5	T	C	3: 142,010,076 (GRCm39)	I289V	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Per1	C	T	11: 68,994,083 (GRCm39)	T443M	probably damaging	Het
Plxna1	A	G	6: 89,297,956 (GRCm39)	V1774A	probably damaging	Het
Poteg	A	G	8: 27,940,326 (GRCm39)	Y165C	probably damaging	Het
Prlr	A	G	15: 10,329,270 (GRCm39)	T582A	probably benign	Het
Psma5	A	G	3: 108,172,464 (GRCm39)	E60G	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr2	T	C	13: 11,842,445 (GRCm39)	N484S	possibly damaging	Het
Sec31a	A	G	5: 100,541,123 (GRCm39)	I328T	possibly damaging	Het
Slc12a2	G	T	18: 58,052,541 (GRCm39)	V787L	probably benign	Het
St14	C	T	9: 31,018,081 (GRCm39)	R177Q	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tom1l1	G	T	11: 90,534,987 (GRCm39)		probably null	Het
Ttf1	A	G	2: 28,954,863 (GRCm39)	R76G	probably benign	Het
Ube4a	C	T	9: 44,854,056 (GRCm39)	E581K	probably damaging	Het
Vmn2r114	A	G	17: 23,510,104 (GRCm39)	V792A	probably damaging	Het
Wdr11	T	C	7: 129,208,819 (GRCm39)	I430T	probably benign	Het
Xkr4	T	C	1: 3,741,544 (GRCm39)	K10E	possibly damaging	Het
Zfp451	T	C	1: 33,842,537 (GRCm39)		probably benign	Het

Other mutations in Ganab

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Ganab	APN	19	8,879,959 (GRCm39)	missense	probably benign
IGL00434:Ganab	APN	19	8,884,707 (GRCm39)	missense	probably damaging	1.00
IGL01415:Ganab	APN	19	8,892,058 (GRCm39)	splice site	probably benign
IGL02418:Ganab	APN	19	8,888,433 (GRCm39)	missense	probably null	0.97
IGL02886:Ganab	APN	19	8,888,391 (GRCm39)	splice site	probably benign
IGL02997:Ganab	APN	19	8,892,776 (GRCm39)	missense	probably benign	0.00
IGL03108:Ganab	APN	19	8,889,840 (GRCm39)	missense	probably damaging	1.00
R0240:Ganab	UTSW	19	8,890,177 (GRCm39)	missense	possibly damaging	0.58
R0240:Ganab	UTSW	19	8,890,177 (GRCm39)	missense	possibly damaging	0.58
R0349:Ganab	UTSW	19	8,889,016 (GRCm39)	missense	probably null	0.11
R0457:Ganab	UTSW	19	8,884,614 (GRCm39)	missense	possibly damaging	0.92
R0551:Ganab	UTSW	19	8,884,644 (GRCm39)	missense	probably benign	0.35
R0645:Ganab	UTSW	19	8,888,477 (GRCm39)	missense	probably damaging	1.00
R0652:Ganab	UTSW	19	8,892,766 (GRCm39)	critical splice acceptor site	probably null
R0688:Ganab	UTSW	19	8,888,477 (GRCm39)	missense	probably damaging	1.00
R0726:Ganab	UTSW	19	8,888,477 (GRCm39)	missense	probably damaging	1.00
R1427:Ganab	UTSW	19	8,893,030 (GRCm39)	missense	probably benign	0.00
R1946:Ganab	UTSW	19	8,888,172 (GRCm39)	missense	probably damaging	1.00
R1955:Ganab	UTSW	19	8,888,980 (GRCm39)	nonsense	probably null
R2173:Ganab	UTSW	19	8,879,624 (GRCm39)	unclassified	probably benign
R2280:Ganab	UTSW	19	8,886,832 (GRCm39)	missense	probably damaging	1.00
R2281:Ganab	UTSW	19	8,886,832 (GRCm39)	missense	probably damaging	1.00
R4897:Ganab	UTSW	19	8,892,355 (GRCm39)	missense	probably benign	0.07
R5224:Ganab	UTSW	19	8,887,955 (GRCm39)	missense	probably benign	0.35
R5269:Ganab	UTSW	19	8,889,301 (GRCm39)	missense	probably damaging	1.00
R5323:Ganab	UTSW	19	8,886,049 (GRCm39)	missense	probably benign	0.00
R5850:Ganab	UTSW	19	8,889,071 (GRCm39)	missense	probably damaging	1.00
R6469:Ganab	UTSW	19	8,879,996 (GRCm39)	critical splice donor site	probably null
R7284:Ganab	UTSW	19	8,889,904 (GRCm39)	missense	probably damaging	1.00
R7412:Ganab	UTSW	19	8,889,892 (GRCm39)	missense	probably benign	0.01
R7413:Ganab	UTSW	19	8,882,339 (GRCm39)	missense	probably benign	0.01
R7466:Ganab	UTSW	19	8,891,933 (GRCm39)	nonsense	probably null
R7586:Ganab	UTSW	19	8,888,716 (GRCm39)	missense	possibly damaging	0.76
R7657:Ganab	UTSW	19	8,884,721 (GRCm39)	missense	probably damaging	0.99
R7671:Ganab	UTSW	19	8,890,216 (GRCm39)	missense	possibly damaging	0.94
R7729:Ganab	UTSW	19	8,892,076 (GRCm39)	missense	probably benign	0.24
R8223:Ganab	UTSW	19	8,888,192 (GRCm39)	missense	probably damaging	1.00
R8873:Ganab	UTSW	19	8,888,243 (GRCm39)	nonsense	probably null
R9264:Ganab	UTSW	19	8,890,228 (GRCm39)	missense	possibly damaging	0.81
R9388:Ganab	UTSW	19	8,892,302 (GRCm39)	missense	probably damaging	1.00
R9447:Ganab	UTSW	19	8,886,894 (GRCm39)	missense	probably damaging	0.99
R9450:Ganab	UTSW	19	8,893,076 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGCTATACACTAGGCACCTCC -3'
(R):5'- AAGAAGGTCCGGGCAAGTTC -3'

Sequencing Primer
(F):5'- ATACACTAGGCACCTCCTCTGGG -3'
(R):5'- CGGGCAAGTTCCCCAGAG -3'

Posted On

2018-11-06