Mutagenetix > Incidental Mutation

Incidental Mutation 'R2173:Ganab'

237659

Institutional Source

Beutler Lab

Gene Symbol

Ganab

Ensembl Gene

ENSMUSG00000071650

Gene Name

alpha glucosidase 2 alpha neutral subunit

Synonyms

G2an, GluII

MMRRC Submission

040175-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.937) question?

Stock #

R2173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8875435-8894036 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 8879624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000093968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096246] [ENSMUST00000096249]

AlphaFold

Q8BHN3

Predicted Effect

probably benign
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

Predicted Effect

probably benign
Transcript: ENSMUST00000096249

SMART Domains

Protein: ENSMUSP00000093968
Gene: ENSMUSG00000071652

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
Pfam:INTS5_N	29	252	1e-82	PFAM
low complexity region	254	267	N/A	INTRINSIC
Pfam:INTS5_C	289	998	2.2e-249	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (66/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	T	A	3: 127,477,239 (GRCm39)	H273L	probably damaging	Het
Alpk3	A	G	7: 80,726,648 (GRCm39)	Y111C	probably damaging	Het
Anapc2	T	G	2: 25,163,288 (GRCm39)	V175G	probably benign	Het
Arhgap30	T	C	1: 171,235,335 (GRCm39)	S570P	probably damaging	Het
AU040320	T	C	4: 126,686,069 (GRCm39)	L215P	probably benign	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Ccdc65	A	G	15: 98,618,914 (GRCm39)	N298D	probably benign	Het
Cfap70	T	A	14: 20,458,630 (GRCm39)	N727Y	probably benign	Het
Clcn7	A	G	17: 25,364,583 (GRCm39)	H63R	probably benign	Het
Corin	A	T	5: 72,661,422 (GRCm39)	C24S	probably benign	Het
Cyp1a2	A	G	9: 57,584,798 (GRCm39)	W419R	probably damaging	Het
Dlgap4	C	A	2: 156,604,732 (GRCm39)	A256D	probably damaging	Het
Eif4enif1	A	G	11: 3,192,367 (GRCm39)		probably null	Het
Eri2	A	G	7: 119,385,766 (GRCm39)	V245A	possibly damaging	Het
Erich6b	T	C	14: 75,896,332 (GRCm39)	F73L	probably benign	Het
Fam110a	A	G	2: 151,812,429 (GRCm39)	C114R	probably damaging	Het
Fam149a	T	C	8: 45,806,991 (GRCm39)	D288G	probably damaging	Het
Fam171a1	T	A	2: 3,226,656 (GRCm39)	Y596*	probably null	Het
Fsd1	A	G	17: 56,298,223 (GRCm39)	T183A	possibly damaging	Het
Fut10	T	A	8: 31,726,159 (GRCm39)	Y305N	probably damaging	Het
Gm9922	G	T	14: 101,967,012 (GRCm39)		probably benign	Het
Gp9	A	G	6: 87,756,035 (GRCm39)	T17A	probably benign	Het
Gxylt2	T	C	6: 100,775,115 (GRCm39)	Y345H	probably damaging	Het
Herc2	A	G	7: 55,835,699 (GRCm39)	H3269R	probably benign	Het
Hpx	A	T	7: 105,241,290 (GRCm39)	S374T	probably benign	Het
Hspa5	T	C	2: 34,664,674 (GRCm39)	V376A	probably damaging	Het
Hyi	T	C	4: 118,219,381 (GRCm39)		probably benign	Het
Impdh2	G	A	9: 108,442,593 (GRCm39)		probably null	Het
Kremen2	A	C	17: 23,961,770 (GRCm39)	W246G	probably damaging	Het
Krt87	A	G	15: 101,385,818 (GRCm39)	V259A	probably damaging	Het
L3mbtl4	A	T	17: 68,894,188 (GRCm39)	H398L	probably damaging	Het
Lama5	C	A	2: 179,838,035 (GRCm39)	V894L	probably benign	Het
Maml2	A	G	9: 13,532,912 (GRCm39)		probably benign	Het
Nup153	A	T	13: 46,855,076 (GRCm39)		probably benign	Het
Or10g6	T	G	9: 39,934,550 (GRCm39)	I287S	probably damaging	Het
Or2y15	G	T	11: 49,350,967 (GRCm39)	V154L	probably benign	Het
Or5k14	A	G	16: 58,692,982 (GRCm39)	F177S	probably damaging	Het
Or8b3b	T	C	9: 38,584,240 (GRCm39)	I180V	probably benign	Het
Or9r7	G	A	10: 129,962,372 (GRCm39)	P185S	probably benign	Het
Otof	C	T	5: 30,543,718 (GRCm39)	R582H	probably damaging	Het
Otud4	T	C	8: 80,395,093 (GRCm39)	S543P	probably damaging	Het
Pde6a	A	G	18: 61,387,453 (GRCm39)	D448G	probably damaging	Het
Phgdh	A	G	3: 98,222,427 (GRCm39)	V388A	probably benign	Het
Plin3	G	T	17: 56,586,891 (GRCm39)	D385E	possibly damaging	Het
Polg	G	T	7: 79,105,341 (GRCm39)	D734E	probably damaging	Het
Pomt1	T	C	2: 32,140,912 (GRCm39)	Y515H	probably damaging	Het
Prr35	A	C	17: 26,167,461 (GRCm39)	H25Q	probably damaging	Het
Pwwp2a	G	A	11: 43,573,313 (GRCm39)	A132T	probably benign	Het
Rbm6	A	T	9: 107,729,390 (GRCm39)	F419L	possibly damaging	Het
Rfx5	A	G	3: 94,864,027 (GRCm39)		probably null	Het
Rnf135	G	A	11: 80,080,066 (GRCm39)	S119N	probably benign	Het
Scfd1	T	A	12: 51,433,862 (GRCm39)	D51E	probably benign	Het
Smox	A	T	2: 131,353,944 (GRCm39)	E5D	possibly damaging	Het
Srpk2	T	C	5: 23,723,613 (GRCm39)		probably null	Het
Syne2	T	A	12: 76,147,763 (GRCm39)		probably benign	Het
Tcf20	A	G	15: 82,738,893 (GRCm39)	S853P	possibly damaging	Het
Tmem131l	A	G	3: 83,833,452 (GRCm39)	F804L	probably damaging	Het
Ttll8	A	G	15: 88,798,800 (GRCm39)	L645P	probably damaging	Het
Ubr3	T	A	2: 69,727,743 (GRCm39)	H35Q	probably benign	Het
Uck1	GCCAACACC	GCC	2: 32,146,088 (GRCm39)		probably benign	Het
Vmn2r70	A	T	7: 85,214,290 (GRCm39)	H287Q	probably benign	Het
Vps26a	A	T	10: 62,304,171 (GRCm39)	I150N	probably damaging	Het
Zfp605	G	A	5: 110,275,323 (GRCm39)	R147H	probably benign	Het
Zfyve16	A	G	13: 92,631,596 (GRCm39)	M1333T	probably damaging	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
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'- GGACAGTGTGAACAAACCATC -3'
(R):5'- TGCCGTCTGTCAAATGCAAG -3'

Sequencing Primer
(F):5'- AGACAGGATCTCACTGTATAGTCTGG -3'
(R):5'- CCGTCTGTCAAATGCAAGAGTTG -3'

Posted On

2014-10-02