Mutagenetix > Incidental Mutation

Incidental Mutation 'R7567:Ganc'

585485

Institutional Source

Beutler Lab

Gene Symbol

Ganc

Ensembl Gene

ENSMUSG00000062646

Gene Name

glucosidase, alpha; neutral C

Synonyms

5830445O15Rik

MMRRC Submission

045629-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.779) question?

Stock #

R7567 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120234377-120291347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120286582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 804 (T804S)

Ref Sequence

ENSEMBL: ENSMUSP00000116898 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000135074
AA Change: T804S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000116898
Gene: ENSMUSG00000062646
AA Change: T804S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,226,838 (GRCm39)	Q464H	probably damaging	Het
Abcc5	A	T	16: 20,224,260 (GRCm39)	S108T	probably damaging	Het
Acss3	T	C	10: 106,959,174 (GRCm39)	S91G	probably benign	Het
Adgrf4	T	A	17: 42,978,333 (GRCm39)	I337L	probably benign	Het
Adgrv1	A	G	13: 81,581,648 (GRCm39)	S4799P	probably benign	Het
Adgrv1	T	C	13: 81,727,596 (GRCm39)	D348G	probably damaging	Het
Afdn	A	G	17: 14,109,070 (GRCm39)	D1546G	probably benign	Het
Agr2	A	T	12: 36,045,946 (GRCm39)	R64S	probably benign	Het
Ankrd13a	T	A	5: 114,927,545 (GRCm39)		probably null	Het
Apon	T	A	10: 128,090,922 (GRCm39)	M200K	possibly damaging	Het
Art4	T	C	6: 136,831,428 (GRCm39)	S238G	possibly damaging	Het
Atp2a2	A	T	5: 122,629,847 (GRCm39)	V74D	probably benign	Het
Atrnl1	T	C	19: 57,687,955 (GRCm39)	S807P	probably damaging	Het
C2cd3	T	C	7: 100,080,022 (GRCm39)	V936A		Het
Car15	T	A	16: 17,654,652 (GRCm39)	H122L	probably damaging	Het
Cav3	A	T	6: 112,449,428 (GRCm39)	R149W	probably benign	Het
Ccdc8	A	T	7: 16,728,687 (GRCm39)	I59F	probably damaging	Het
Ccng2	G	A	5: 93,418,731 (GRCm39)	V119I	probably benign	Het
Ceacam2	A	G	7: 25,227,333 (GRCm39)	I178T	probably benign	Het
Ces2a	A	G	8: 105,467,930 (GRCm39)	D520G	probably benign	Het
Cln8	T	C	8: 14,945,057 (GRCm39)	S124P	probably benign	Het
Coro2a	T	A	4: 46,546,674 (GRCm39)	D227V	probably damaging	Het
Cpa4	A	C	6: 30,573,889 (GRCm39)	R32S	probably benign	Het
Creb3l4	G	T	3: 90,149,729 (GRCm39)	D45E	probably benign	Het
Crybb2	C	T	5: 113,213,759 (GRCm39)		probably null	Het
Cul7	T	A	17: 46,965,521 (GRCm39)	H566Q	probably benign	Het
Cyp2b10	A	G	7: 25,614,204 (GRCm39)	Y226C	probably damaging	Het
Dennd2a	A	T	6: 39,499,743 (GRCm39)	V274D	probably benign	Het
Dmbt1	G	A	7: 130,663,093 (GRCm39)		probably null	Het
Drc7	T	C	8: 95,794,684 (GRCm39)	I363T	probably benign	Het
Drd3	G	A	16: 43,643,047 (GRCm39)	V396I	probably benign	Het
Dync2i1	A	T	12: 116,218,130 (GRCm39)		probably null	Het
Eif2ak4	A	G	2: 118,280,795 (GRCm39)	N1054S	probably benign	Het
Epc1	A	C	18: 6,450,084 (GRCm39)	V458G	probably damaging	Het
Exoc1	T	A	5: 76,685,562 (GRCm39)	D91E	probably damaging	Het
Fat4	T	A	3: 38,943,485 (GRCm39)	F793I	probably damaging	Het
Fhod1	T	C	8: 106,074,469 (GRCm39)	E6G	unknown	Het
Galnt16	G	A	12: 80,628,084 (GRCm39)		probably null	Het
Gpam	A	T	19: 55,070,062 (GRCm39)	V398E	possibly damaging	Het
Gpr68	A	G	12: 100,844,623 (GRCm39)	V307A	probably benign	Het
Grm7	C	T	6: 111,335,722 (GRCm39)	S711L	probably damaging	Het
Hemgn	T	A	4: 46,397,034 (GRCm39)	R67S	probably damaging	Het
Hmg20b	T	C	10: 81,182,493 (GRCm39)	D281G	possibly damaging	Het
Ifi211	A	C	1: 173,729,401 (GRCm39)	F277V	probably damaging	Het
Ighmbp2	T	C	19: 3,322,981 (GRCm39)	I322V	probably benign	Het
Iqce	A	T	5: 140,671,830 (GRCm39)	L265H	probably damaging	Het
Itgal	G	T	7: 126,898,960 (GRCm39)	A101S	probably benign	Het
Kif5a	C	T	10: 127,073,248 (GRCm39)	M647I	probably benign	Het
Kirrel1	G	T	3: 87,002,988 (GRCm39)	T135K	probably damaging	Het
Klf16	T	C	10: 80,412,622 (GRCm39)	Y138C	probably benign	Het
Klhl7	A	G	5: 24,331,844 (GRCm39)	T49A	probably benign	Het
Mr1	T	C	1: 155,022,474 (GRCm39)		probably benign	Het
Mrc1	A	T	2: 14,330,104 (GRCm39)	I1238F	probably damaging	Het
Ncoa5	C	T	2: 164,846,171 (GRCm39)	M225I	possibly damaging	Het
Nf1	A	T	11: 79,438,052 (GRCm39)	T121S	probably damaging	Het
Ngfr	T	C	11: 95,465,147 (GRCm39)	T234A	probably benign	Het
Ninj1	T	G	13: 49,347,356 (GRCm39)	F74V	probably damaging	Het
Npffr1	T	C	10: 61,462,088 (GRCm39)	V408A	probably benign	Het
Nsd2	T	C	5: 34,003,570 (GRCm39)	V240A	probably damaging	Het
Obi1	T	C	14: 104,716,814 (GRCm39)	T520A	probably damaging	Het
Or12d13	T	A	17: 37,648,062 (GRCm39)	E20D	probably benign	Het
Or2z2	A	G	11: 58,345,992 (GRCm39)	M261T	probably damaging	Het
Or7a35	T	A	10: 78,853,379 (GRCm39)	F74L	probably benign	Het
Or8b44	G	A	9: 38,410,369 (GRCm39)	V135I	probably benign	Het
Or8g34	T	C	9: 39,373,173 (GRCm39)	S146P	possibly damaging	Het
Ovol1	T	C	19: 5,601,614 (GRCm39)	H136R	probably damaging	Het
Prag1	T	A	8: 36,569,760 (GRCm39)	D114E	possibly damaging	Het
Pramel17	T	C	4: 101,694,331 (GRCm39)	N184S	probably benign	Het
Prss3b	C	A	6: 41,010,127 (GRCm39)	R69L	probably benign	Het
Prss57	T	A	10: 79,623,234 (GRCm39)	H71L	probably benign	Het
Ptgs2	T	C	1: 149,978,448 (GRCm39)	F187L	probably damaging	Het
Ptprz1	A	T	6: 22,959,779 (GRCm39)	N92I	probably damaging	Het
Rab23	A	T	1: 33,773,812 (GRCm39)	T91S	possibly damaging	Het
Rag1	A	G	2: 101,474,006 (GRCm39)	S379P	probably damaging	Het
Ribc2	G	T	15: 85,027,448 (GRCm39)	D310Y	probably damaging	Het
Rims1	A	G	1: 22,507,291 (GRCm39)	Y620H	probably damaging	Het
Rock1	A	C	18: 10,090,820 (GRCm39)	V938G	probably benign	Het
Rsph10b	A	G	5: 143,886,244 (GRCm39)	N314S	possibly damaging	Het
Sertad1	A	G	7: 27,189,327 (GRCm39)	D216G	possibly damaging	Het
Shisal1	G	A	15: 84,290,914 (GRCm39)	T131M	probably benign	Het
Slco6d1	T	A	1: 98,425,252 (GRCm39)	V600D	probably damaging	Het
Snapc2	T	C	8: 4,305,314 (GRCm39)	I232T	probably damaging	Het
Snx13	A	G	12: 35,136,913 (GRCm39)	S125G	probably damaging	Het
Srcin1	C	T	11: 97,425,551 (GRCm39)	R502H	probably damaging	Het
Tesmin	A	G	19: 3,442,218 (GRCm39)	E167G	possibly damaging	Het
Tex10	T	C	4: 48,468,787 (GRCm39)	I129M	possibly damaging	Het
Tmem235	A	G	11: 117,754,967 (GRCm39)	S140G	probably benign	Het
Trim60	T	A	8: 65,454,177 (GRCm39)	D24V	probably damaging	Het
Ttc39c	A	G	18: 12,822,936 (GRCm39)	E148G	probably benign	Het
Vmn2r70	G	T	7: 85,214,243 (GRCm39)	T303K	probably benign	Het
Wdr48	A	T	9: 119,745,894 (GRCm39)	T426S	possibly damaging	Het
Xirp2	A	T	2: 67,346,326 (GRCm39)	T2856S	probably benign	Het
Zswim8	A	G	14: 20,770,001 (GRCm39)	N1356S	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
R5997:Ganc	UTSW	2	120,261,086 (GRCm39)	missense	possibly damaging	0.55
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
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'- GCCACAGATATTCTTTGCTTGAG -3'
(R):5'- GCACCATTCCTGGATCTCAG -3'

Sequencing Primer
(F):5'- GGATCTCATATCGTGAAATACACTTG -3'
(R):5'- TCCTGGATCTCAGAGTTCCTAAGAAC -3'

Posted On

2019-10-17