Mutagenetix > Incidental Mutation

Incidental Mutation 'R5997:Ganc'

480596

Institutional Source

Beutler Lab

Gene Symbol

Ganc

Ensembl Gene

ENSMUSG00000062646

Gene Name

glucosidase, alpha; neutral C

Synonyms

5830445O15Rik

MMRRC Submission

044176-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.752) question?

Stock #

R5997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120234377-120291347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 120261086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 257 (V257G)

Ref Sequence

ENSEMBL: ENSMUSP00000116898 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000043755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132835

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135074
AA Change: V257G

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116898
Gene: ENSMUSG00000062646
AA Change: V257G

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: ENSMUST00000145134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152437

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.5%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	T	5: 124,227,878 (GRCm39)	V121E	possibly damaging	Het
Acsbg3	A	T	17: 57,183,373 (GRCm39)	D38V	probably benign	Het
Adamts20	T	A	15: 94,277,628 (GRCm39)	Y278F	probably damaging	Het
Adcy7	A	T	8: 89,053,020 (GRCm39)	D972V	probably benign	Het
Adgrf3	C	A	5: 30,403,360 (GRCm39)		probably null	Het
Ahdc1	G	T	4: 132,791,206 (GRCm39)	G816C	probably benign	Het
Aifm3	A	G	16: 17,319,994 (GRCm39)	K283E	probably benign	Het
Akap6	T	C	12: 52,984,016 (GRCm39)		probably null	Het
Ank1	T	C	8: 23,589,678 (GRCm39)	L593P	probably damaging	Het
Apol11b	T	A	15: 77,519,697 (GRCm39)	T128S	probably benign	Het
C1qtnf7	C	A	5: 43,773,427 (GRCm39)	T235K	probably damaging	Het
Camk2a	A	T	18: 61,111,029 (GRCm39)	I73F	probably damaging	Het
Ccdc121rt3	C	T	5: 112,502,874 (GRCm39)	V277M	possibly damaging	Het
Cd109	G	T	9: 78,612,344 (GRCm39)	V1244F	possibly damaging	Het
Cep164	A	G	9: 45,680,761 (GRCm39)	L1240S	possibly damaging	Het
Cnga1	T	A	5: 72,761,918 (GRCm39)	D532V	probably damaging	Het
Cyp4a14	A	T	4: 115,353,297 (GRCm39)	L5*	probably null	Het
Cyp4a30b	A	T	4: 115,316,588 (GRCm39)	K405*	probably null	Het
Dchs1	T	C	7: 105,403,302 (GRCm39)	D3080G	probably benign	Het
Ddx1	T	C	12: 13,287,800 (GRCm39)	D168G	probably damaging	Het
Dhx57	T	G	17: 80,553,235 (GRCm39)	K1231Q	probably damaging	Het
Dnah14	A	G	1: 181,597,670 (GRCm39)	N3640D	probably benign	Het
Dock4	T	A	12: 40,805,833 (GRCm39)	L935Q	probably damaging	Het
Dus2	A	T	8: 106,772,698 (GRCm39)	R269S	probably benign	Het
E230025N22Rik	G	A	18: 36,822,161 (GRCm39)	R201C	possibly damaging	Het
Erbb3	G	A	10: 128,419,054 (GRCm39)	T269M	probably damaging	Het
Fbxo43	T	C	15: 36,162,239 (GRCm39)	R323G	probably damaging	Het
Fktn	A	G	4: 53,735,061 (GRCm39)	H233R	probably benign	Het
Ftsj3	A	T	11: 106,143,077 (GRCm39)	D412E	probably damaging	Het
Fzd7	A	T	1: 59,523,703 (GRCm39)	M529L	probably benign	Het
Fzr1	T	A	10: 81,206,660 (GRCm39)		probably null	Het
Garin1a	T	A	6: 29,290,423 (GRCm39)	L267*	probably null	Het
Gm4131	T	C	14: 62,702,207 (GRCm39)	K254E	probably damaging	Het
Gm7347	G	T	5: 26,262,247 (GRCm39)	Y91*	probably null	Het
Gm9857	G	A	3: 108,847,481 (GRCm39)		probably benign	Het
Grpel1	T	C	5: 36,622,592 (GRCm39)	S19P	probably benign	Het
Gtf3c4	T	C	2: 28,723,723 (GRCm39)	K670E	possibly damaging	Het
H2bc7	G	A	13: 23,758,277 (GRCm39)		probably benign	Het
Hmcn1	G	T	1: 150,579,924 (GRCm39)	Q1938K	possibly damaging	Het
Hnrnpk	T	C	13: 58,546,971 (GRCm39)	D71G	probably damaging	Het
Hspa4l	G	A	3: 40,722,411 (GRCm39)	R311H	probably damaging	Het
Igkv3-5	T	A	6: 70,640,688 (GRCm39)	F56L	probably benign	Het
Igkv6-20	T	A	6: 70,312,898 (GRCm39)	T92S	possibly damaging	Het
Krt8	C	T	15: 101,909,029 (GRCm39)	V200I	possibly damaging	Het
Lamb2	A	T	9: 108,357,587 (GRCm39)	T66S	possibly damaging	Het
Lamp3	A	G	16: 19,519,778 (GRCm39)	L135S	probably benign	Het
Lrguk	A	G	6: 34,106,078 (GRCm39)	Y701C	probably damaging	Het
Mcc	G	T	18: 44,582,388 (GRCm39)	L588M	probably damaging	Het
Mcidas	T	A	13: 113,135,120 (GRCm39)	L234Q	probably damaging	Het
Mtmr14	T	A	6: 113,257,575 (GRCm39)	L208Q	probably damaging	Het
Myof	A	G	19: 37,893,747 (GRCm39)	F1139L	possibly damaging	Het
Nlrp14	C	A	7: 106,781,703 (GRCm39)	T300K	probably benign	Het
Or2d36	A	T	7: 106,746,535 (GRCm39)	E4V	possibly damaging	Het
Or2m13	T	A	16: 19,226,694 (GRCm39)	H24L	probably benign	Het
Or5b118	A	G	19: 13,448,870 (GRCm39)	I179V	probably benign	Het
Or8b41	A	T	9: 38,055,097 (GRCm39)	Y217F	probably damaging	Het
Orc2	A	G	1: 58,511,547 (GRCm39)	I354T	probably damaging	Het
Pard3b	G	T	1: 62,115,568 (GRCm39)	S140I	probably damaging	Het
Pcgf5	A	G	19: 36,412,003 (GRCm39)	D49G	probably benign	Het
Pcsk6	T	C	7: 65,609,041 (GRCm39)	F388S	probably damaging	Het
Prokr2	A	C	2: 132,223,362 (GRCm39)	I60S	probably damaging	Het
Rab33b	A	G	3: 51,391,900 (GRCm39)	T50A	possibly damaging	Het
Rbms3	T	C	9: 116,548,457 (GRCm39)	D61G	probably damaging	Het
Rhcg	T	A	7: 79,250,262 (GRCm39)	K274*	probably null	Het
Rnf112	C	T	11: 61,341,848 (GRCm39)	V319M	possibly damaging	Het
Rnf44	A	T	13: 54,830,613 (GRCm39)	S265T	possibly damaging	Het
Sf3a3	A	G	4: 124,615,851 (GRCm39)	D168G	probably damaging	Het
Sik2	A	G	9: 50,806,642 (GRCm39)		probably null	Het
Slco1a5	T	A	6: 142,198,839 (GRCm39)	L275F	probably benign	Het
Smtnl1	T	C	2: 84,645,722 (GRCm39)	H383R	probably damaging	Het
Spns3	T	G	11: 72,429,904 (GRCm39)	T175P	probably damaging	Het
Togaram1	A	G	12: 65,042,312 (GRCm39)	T1174A	probably benign	Het
Tradd	C	T	8: 105,987,277 (GRCm39)	E10K	possibly damaging	Het
Ttc7b	A	T	12: 100,339,819 (GRCm39)	Y579N	probably damaging	Het
Uncx	G	A	5: 139,533,344 (GRCm39)	G470R	probably damaging	Het
Vav3	T	A	3: 109,408,777 (GRCm39)	M177K	probably damaging	Het
Wfs1	A	T	5: 37,125,094 (GRCm39)	I599N	probably damaging	Het
Zfp454	G	A	11: 50,764,449 (GRCm39)	H217Y	probably damaging	Het

Other mutations in Ganc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Ganc	APN	2	120,272,079 (GRCm39)	missense	probably damaging	1.00
IGL00913:Ganc	APN	2	120,269,933 (GRCm39)	splice site	probably benign
IGL01077:Ganc	APN	2	120,276,996 (GRCm39)	missense	possibly damaging	0.50
IGL01773:Ganc	APN	2	120,290,365 (GRCm39)	missense	possibly damaging	0.87
IGL01812:Ganc	APN	2	120,242,007 (GRCm39)	missense	probably benign	0.00
IGL02029:Ganc	APN	2	120,290,338 (GRCm39)	missense	probably benign	0.00
IGL02067:Ganc	APN	2	120,236,785 (GRCm39)	missense	probably benign	0.16
IGL02290:Ganc	APN	2	120,278,904 (GRCm39)	missense	possibly damaging	0.90
IGL02355:Ganc	APN	2	120,264,238 (GRCm39)	missense	probably damaging	1.00
IGL02362:Ganc	APN	2	120,264,238 (GRCm39)	missense	probably damaging	1.00
IGL02553:Ganc	APN	2	120,288,615 (GRCm39)	missense	probably benign
IGL02808:Ganc	APN	2	120,241,992 (GRCm39)	missense	probably benign	0.00
IGL02966:Ganc	APN	2	120,264,129 (GRCm39)	missense	probably damaging	1.00
IGL03356:Ganc	APN	2	120,265,769 (GRCm39)	missense	probably benign	0.22
IGL03405:Ganc	APN	2	120,264,247 (GRCm39)	missense	probably damaging	1.00
ingenuous	UTSW	2	120,274,630 (GRCm39)	missense	probably damaging	1.00
R0464:Ganc	UTSW	2	120,267,175 (GRCm39)	missense	probably benign	0.07
R0511:Ganc	UTSW	2	120,278,882 (GRCm39)	nonsense	probably null
R0932:Ganc	UTSW	2	120,288,610 (GRCm39)	missense	probably damaging	0.99
R1467:Ganc	UTSW	2	120,261,409 (GRCm39)	splice site	probably benign
R1902:Ganc	UTSW	2	120,276,963 (GRCm39)	missense	probably damaging	1.00
R2087:Ganc	UTSW	2	120,287,738 (GRCm39)	missense	probably damaging	1.00
R4668:Ganc	UTSW	2	120,261,548 (GRCm39)	missense	probably benign	0.02
R4669:Ganc	UTSW	2	120,261,548 (GRCm39)	missense	probably benign	0.02
R4725:Ganc	UTSW	2	120,265,754 (GRCm39)	missense	probably damaging	0.99
R4735:Ganc	UTSW	2	120,267,104 (GRCm39)	splice site	silent
R4738:Ganc	UTSW	2	120,283,075 (GRCm39)	missense	probably damaging	0.97
R4839:Ganc	UTSW	2	120,290,304 (GRCm39)	missense	probably benign
R4951:Ganc	UTSW	2	120,286,528 (GRCm39)	missense	probably benign	0.00
R5841:Ganc	UTSW	2	120,242,020 (GRCm39)	missense	possibly damaging	0.65
R6142:Ganc	UTSW	2	120,261,218 (GRCm39)	critical splice donor site	probably null
R6378:Ganc	UTSW	2	120,264,307 (GRCm39)	missense	probably damaging	1.00
R6711:Ganc	UTSW	2	120,281,320 (GRCm39)	missense	possibly damaging	0.74
R6777:Ganc	UTSW	2	120,274,630 (GRCm39)	missense	probably damaging	1.00
R7229:Ganc	UTSW	2	120,258,256 (GRCm39)	missense	possibly damaging	0.92
R7235:Ganc	UTSW	2	120,264,198 (GRCm39)	missense	probably damaging	1.00
R7241:Ganc	UTSW	2	120,272,010 (GRCm39)	missense	probably damaging	1.00
R7326:Ganc	UTSW	2	120,261,080 (GRCm39)	missense	probably damaging	1.00
R7567:Ganc	UTSW	2	120,286,582 (GRCm39)	missense	probably benign	0.01
R7685:Ganc	UTSW	2	120,264,273 (GRCm39)	missense	probably damaging	1.00
R7736:Ganc	UTSW	2	120,264,295 (GRCm39)	missense	possibly damaging	0.83
R7784:Ganc	UTSW	2	120,267,149 (GRCm39)	nonsense	probably null
R7955:Ganc	UTSW	2	120,261,181 (GRCm39)	missense	probably damaging	1.00
R8222:Ganc	UTSW	2	120,276,933 (GRCm39)	missense	probably damaging	1.00
R8247:Ganc	UTSW	2	120,267,181 (GRCm39)	missense	probably null	0.52
R8306:Ganc	UTSW	2	120,252,560 (GRCm39)	missense	probably benign	0.02
R9282:Ganc	UTSW	2	120,290,381 (GRCm39)	missense	probably benign
X0027:Ganc	UTSW	2	120,278,931 (GRCm39)	missense	probably damaging	1.00
Z1177:Ganc	UTSW	2	120,264,275 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCAGGCAAGTGGTAAGAG -3'
(R):5'- TGTGGAAAGTCCTGCATGC -3'

Sequencing Primer
(F):5'- CCTAGAACTTGCTGTAGCCTAGG -3'
(R):5'- TGCCGCCACATTCCGAAG -3'

Posted On

2017-06-26