Mutagenetix > Incidental Mutation

Incidental Mutation 'R0457:Ganab'

41268

Institutional Source

Beutler Lab

Gene Symbol

Ganab

Ensembl Gene

ENSMUSG00000071650

Gene Name

alpha glucosidase 2 alpha neutral subunit

Synonyms

G2an, GluII

MMRRC Submission

038657-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R0457 (G1)

Quality Score

185

Status

Not validated

Chromosome

Chromosomal Location

8875435-8894036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8884614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 139 (E139G)

Ref Sequence

ENSEMBL: ENSMUSP00000093965 (fasta)

Gene Model

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

AlphaFold

Q8BHN3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096246
AA Change: E139G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093965
Gene: ENSMUSG00000071650
AA Change: E139G

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,844,054 (GRCm39)	I249M	possibly damaging	Het
Adcy5	T	C	16: 35,094,915 (GRCm39)	S691P	probably benign	Het
Ajm1	G	T	2: 25,468,358 (GRCm39)	R518S	possibly damaging	Het
Aspscr1	A	G	11: 120,568,444 (GRCm39)	E12G	probably benign	Het
Atp2a2	T	C	5: 122,607,777 (GRCm39)	Q244R	probably benign	Het
Birc6	A	G	17: 74,959,023 (GRCm39)	M3818V	probably benign	Het
Birc6	C	T	17: 74,969,620 (GRCm39)	A4230V	probably damaging	Het
Bub1b	T	C	2: 118,440,340 (GRCm39)	F148S	probably damaging	Het
C1ra	T	C	6: 124,499,712 (GRCm39)	S633P	probably benign	Het
Cacna2d1	A	G	5: 16,472,414 (GRCm39)	T274A	probably damaging	Het
Cmya5	A	G	13: 93,232,095 (GRCm39)	W998R	possibly damaging	Het
Crbn	T	C	6: 106,758,018 (GRCm39)	K404R	probably benign	Het
Cryga	T	C	1: 65,142,204 (GRCm39)	Y63C	probably damaging	Het
Csmd1	C	A	8: 16,551,407 (GRCm39)		probably null	Het
Defa-ps1	A	T	8: 22,185,758 (GRCm39)		noncoding transcript	Het
Dnajc10	T	A	2: 80,175,290 (GRCm39)	V559D	possibly damaging	Het
Dock1	A	T	7: 134,739,874 (GRCm39)	E1423D	possibly damaging	Het
Dpf3	A	T	12: 83,319,179 (GRCm39)	S44T	probably damaging	Het
Dyrk3	A	T	1: 131,064,094 (GRCm39)	V31D	possibly damaging	Het
F5	T	C	1: 164,021,769 (GRCm39)	S1415P	probably benign	Het
Fam186b	A	C	15: 99,169,166 (GRCm39)	I927S	probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fer1l6	G	A	15: 58,509,943 (GRCm39)		probably null	Het
Fndc7	G	T	3: 108,783,861 (GRCm39)	S249R	probably benign	Het
Gbp5	A	G	3: 142,213,518 (GRCm39)	D478G	probably damaging	Het
Gm17324	T	A	9: 78,355,580 (GRCm39)	M1K	probably null	Het
Gtpbp6	T	A	5: 110,254,608 (GRCm39)	R126S	probably damaging	Het
Hapln4	G	A	8: 70,541,122 (GRCm39)	W385*	probably null	Het
Hmcn2	T	A	2: 31,305,296 (GRCm39)		probably null	Het
Hsp90ab1	A	G	17: 45,879,914 (GRCm39)	V534A	probably damaging	Het
Kat6b	C	A	14: 21,720,598 (GRCm39)	T1650K	probably damaging	Het
Kpna1	T	A	16: 35,823,275 (GRCm39)	D42E	probably benign	Het
Lrrc14b	A	G	13: 74,509,279 (GRCm39)	M376T	probably benign	Het
Lrrc40	A	G	3: 157,760,201 (GRCm39)		probably null	Het
Ltv1	T	C	10: 13,067,887 (GRCm39)	T34A	probably benign	Het
Mga	T	A	2: 119,746,969 (GRCm39)	N373K	probably damaging	Het
Msh3	A	T	13: 92,357,505 (GRCm39)	M101K	probably damaging	Het
Mthfd2l	T	C	5: 91,168,065 (GRCm39)	M320T	possibly damaging	Het
Mug1	G	A	6: 121,838,514 (GRCm39)	E506K	probably benign	Het
Ngb	T	C	12: 87,147,503 (GRCm39)	D54G	probably damaging	Het
Ntrk1	A	G	3: 87,699,014 (GRCm39)	F84L	probably benign	Het
Or1j18	A	T	2: 36,624,545 (GRCm39)	I71F	probably benign	Het
Or52n2b	T	A	7: 104,566,180 (GRCm39)	T108S	probably benign	Het
Phf12	T	A	11: 77,908,994 (GRCm39)	I358N	possibly damaging	Het
Plec	A	G	15: 76,061,801 (GRCm39)	F2577S	probably damaging	Het
Polr1c	T	A	17: 46,558,689 (GRCm39)	Y36F	probably benign	Het
Prkd1	A	T	12: 50,413,155 (GRCm39)	M672K	probably damaging	Het
Prob1	T	C	18: 35,785,539 (GRCm39)	Y905C	probably damaging	Het
Ptpn23	T	A	9: 110,215,361 (GRCm39)	H1433L	possibly damaging	Het
Rnf11	A	T	4: 109,314,149 (GRCm39)	L80Q	probably damaging	Het
Sbp	G	A	17: 24,164,286 (GRCm39)	G183D	probably benign	Het
Scgb2b7	A	T	7: 31,403,437 (GRCm39)	C90S	possibly damaging	Het
Slc4a9	T	C	18: 36,668,471 (GRCm39)	L710P	probably damaging	Het
Spire1	T	A	18: 67,685,670 (GRCm39)	I35F	probably damaging	Het
Sptbn2	T	C	19: 4,795,966 (GRCm39)	V1715A	possibly damaging	Het
St7	T	C	6: 17,819,281 (GRCm39)	F62L	probably damaging	Het
Svep1	C	T	4: 58,118,136 (GRCm39)	G862D	probably damaging	Het
Syne1	A	T	10: 4,972,041 (GRCm39)	M8789K	probably damaging	Het
Synpo2	A	G	3: 122,906,421 (GRCm39)	L965P	probably damaging	Het
Trhde	A	T	10: 114,284,167 (GRCm39)	M772K	probably benign	Het
Ttn	T	A	2: 76,608,851 (GRCm39)	K15976*	probably null	Het
Unc13a	A	C	8: 72,110,645 (GRCm39)		probably null	Het
Vcan	T	C	13: 89,851,318 (GRCm39)	E1214G	possibly damaging	Het
Vmn1r29	T	C	6: 58,285,072 (GRCm39)	V264A	probably benign	Het
Vmn1r60	T	A	7: 5,548,118 (GRCm39)		probably benign	Het
Wdr90	C	T	17: 26,079,459 (GRCm39)	R225H	probably benign	Het
Wnk1	G	A	6: 119,946,293 (GRCm39)	T620I	probably damaging	Het
Zan	C	T	5: 137,405,968 (GRCm39)		probably benign	Het
Zfp37	A	T	4: 62,109,902 (GRCm39)	C387*	probably null	Het
Zfp521	T	C	18: 13,977,897 (GRCm39)	T839A	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
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
R6911:Ganab	UTSW	19	8,885,152 (GRCm39)	splice 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'- CTTCTGCTGAACCCAAGGACCTAAG -3'
(R):5'- AGTAAGTTCCCTGAAGTCCCCACC -3'

Sequencing Primer
(F):5'- agaggttagaggataatttgggg -3'
(R):5'- ACCCTGTACTCACGGGAC -3'

Posted On

2013-05-23