Mutagenetix > Incidental Mutation

Incidental Mutation 'R7211:Gaa'

561093

Institutional Source

Beutler Lab

Gene Symbol

Gaa

Ensembl Gene

ENSMUSG00000025579

Gene Name

glucosidase, alpha, acid

Synonyms

E430018M07Rik

MMRRC Submission

045339-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.731) question?

Stock #

R7211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119158789-119176284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119175030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 877 (V877A)

Ref Sequence

ENSEMBL: ENSMUSP00000026666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026666] [ENSMUST00000026667] [ENSMUST00000106259]

AlphaFold

P70699

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026666
AA Change: V877A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026666
Gene: ENSMUSG00000025579
AA Change: V877A

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PD	80	134	1.08e-15	SMART
Pfam:Gal_mutarotas_2	254	320	3.7e-12	PFAM
Pfam:Glyco_hydro_31	340	825	8.8e-175	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026667

SMART Domains

Protein: ENSMUSP00000026667
Gene: ENSMUSG00000025580

Domain	Start	End	E-Value	Type
DEXDc	57	254	2.44e-57	SMART
HELICc	291	372	1.63e-35	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106259
AA Change: V877A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101866
Gene: ENSMUSG00000025579
AA Change: V877A

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PD	80	134	1.08e-15	SMART
Pfam:NtCtMGAM_N	147	253	3.5e-32	PFAM
Pfam:Gal_mutarotas_2	254	320	6.5e-12	PFAM
Pfam:Glyco_hydro_31	340	825	1.8e-153	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143288

SMART Domains

Protein: ENSMUSP00000121984
Gene: ENSMUSG00000025579

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_31	8	207	2.2e-67	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (84/85)

MGI Phenotype

FUNCTION: This gene encodes a lysosomal acid glucosidase that is involved in the degradation of glycogen. The encoded preproprotein undergoes proteolytic processing to generate a mature enzyme that cleaves alpha-1-4 and alpha-1-6 glycosidic bonds of glycogen, maltose and intermediate oligosaccharides within the lysosome. Mice lacking the encoded protein exhibit symptoms similar to human Pompe syndrome such as accumulation of glycogen in cardiac and skeletal muscle lysosomes resulting in reduced mobility and strength. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous inactivation of this gene leads to massive glycogen accumulation in multiple organs, cardiomyopathy, hypoactivity, severe motor disability, profound muscle weakness and wasting, and progressive kyphosis. The age of onset and clinical course ofthe disease appear to be strain-dependent. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	T	A	2: 154,887,699 (GRCm39)	V53E	probably damaging	Het
A1cf	A	G	19: 31,904,541 (GRCm39)	Y268C	probably benign	Het
Adam34l	T	A	8: 44,078,914 (GRCm39)	S437C	probably damaging	Het
Adamts13	C	T	2: 26,879,310 (GRCm39)	T621I	probably benign	Het
Akr1b7	A	T	6: 34,398,049 (GRCm39)	N293Y	probably benign	Het
Angpt2	T	A	8: 18,791,147 (GRCm39)	T50S	probably benign	Het
Anks1b	C	A	10: 90,346,932 (GRCm39)	A744D	possibly damaging	Het
Aqr	A	G	2: 113,965,204 (GRCm39)	V587A	probably benign	Het
Atm	A	G	9: 53,399,860 (GRCm39)	V1540A	probably benign	Het
Brd10	A	G	19: 29,763,712 (GRCm39)	F121S		Het
C4b	A	G	17: 34,954,508 (GRCm39)	V887A	possibly damaging	Het
Cd200r1	A	G	16: 44,609,120 (GRCm39)	T26A	probably benign	Het
Ciao1	A	G	2: 127,088,928 (GRCm39)		probably null	Het
Clba1	T	A	12: 112,774,632 (GRCm39)		probably null	Het
Clca3a2	A	G	3: 144,519,775 (GRCm39)	C200R	probably benign	Het
Col6a5	T	A	9: 105,805,363 (GRCm39)	Q1181L	unknown	Het
Copb2	T	A	9: 98,456,198 (GRCm39)	I244N	probably damaging	Het
Cpb2	A	G	14: 75,512,430 (GRCm39)	Y281C	probably damaging	Het
Disp3	C	A	4: 148,325,979 (GRCm39)	V1260F	probably damaging	Het
Dnajc2	C	T	5: 21,981,777 (GRCm39)	R123Q	probably damaging	Het
Dpysl2	T	C	14: 67,067,425 (GRCm39)	N162S	probably damaging	Het
Dsp	T	A	13: 38,372,511 (GRCm39)		probably null	Het
Edc4	T	A	8: 106,612,941 (GRCm39)		probably null	Het
Efcab3	C	A	11: 104,601,539 (GRCm39)	A284D	probably benign	Het
Efcab3	G	T	11: 104,615,435 (GRCm39)		probably null	Het
Epm2a	T	C	10: 11,219,419 (GRCm39)	Y69H	probably benign	Het
Frzb	C	A	2: 80,248,669 (GRCm39)	E262*	probably null	Het
Gpnmb	T	C	6: 49,028,949 (GRCm39)	I489T	possibly damaging	Het
Gpr31b	T	C	17: 13,271,104 (GRCm39)	T22A	probably benign	Het
Gys1	T	A	7: 45,097,684 (GRCm39)	F477Y	possibly damaging	Het
Hoxc11	A	C	15: 102,863,487 (GRCm39)	E176A	possibly damaging	Het
Kcnk13	T	A	12: 100,028,076 (GRCm39)	F384I	probably damaging	Het
Ky	A	G	9: 102,386,349 (GRCm39)	E59G	probably benign	Het
Lama4	T	A	10: 38,881,491 (GRCm39)	D93E	probably damaging	Het
Lrrc23	A	T	6: 124,755,152 (GRCm39)	N128K	probably benign	Het
Lrrc71	G	T	3: 87,650,633 (GRCm39)	Q210K	possibly damaging	Het
Map1a	G	A	2: 121,135,124 (GRCm39)	R1980H	probably benign	Het
Med15	T	C	16: 17,515,977 (GRCm39)	D15G	unknown	Het
Mfng	A	T	15: 78,657,268 (GRCm39)	S69T	probably benign	Het
Muc16	T	G	9: 18,409,866 (GRCm39)	S181R	probably damaging	Het
Mug1	A	T	6: 121,857,498 (GRCm39)	Q1074L	possibly damaging	Het
Myorg	A	G	4: 41,498,028 (GRCm39)	I534T	probably damaging	Het
Nbea	T	A	3: 55,912,322 (GRCm39)	N1155I	probably benign	Het
Nbeal1	T	G	1: 60,240,110 (GRCm39)	L159V	probably damaging	Het
Nudt1	C	A	5: 140,323,402 (GRCm39)	P118Q	possibly damaging	Het
Or2q1	A	T	6: 42,794,950 (GRCm39)	T182S	probably benign	Het
Or8g37	A	C	9: 39,731,154 (GRCm39)	Q73P	possibly damaging	Het
Pcdhga6	T	A	18: 37,842,173 (GRCm39)	V631D	probably benign	Het
Pcna	A	C	2: 132,091,792 (GRCm39)	V203G	probably damaging	Het
Pgf	G	T	12: 85,222,549 (GRCm39)	N33K	probably benign	Het
Pgm2	T	C	5: 64,263,193 (GRCm39)	L280P	probably damaging	Het
Plcg1	G	A	2: 160,573,794 (GRCm39)	A20T	probably benign	Het
Pou2af2	G	T	9: 51,201,733 (GRCm39)	Q108K	probably damaging	Het
Prdx5	G	T	19: 6,884,958 (GRCm39)	D126E	probably damaging	Het
Prkag2	T	C	5: 25,200,296 (GRCm39)	T20A	probably benign	Het
Prr14l	T	A	5: 32,987,431 (GRCm39)	Q688L	probably damaging	Het
Pxdn	T	G	12: 30,034,903 (GRCm39)	D253E	possibly damaging	Het
Rbm18	A	T	2: 36,012,905 (GRCm39)	C53*	probably null	Het
Rprm	A	T	2: 53,975,270 (GRCm39)	L16Q	probably benign	Het
Saysd1	A	G	14: 20,127,576 (GRCm39)	F116S	probably damaging	Het
Scg3	A	G	9: 75,589,366 (GRCm39)	S96P	probably benign	Het
Scgb1b3	C	T	7: 31,075,078 (GRCm39)	L16F	unknown	Het
Sh3tc2	A	G	18: 62,122,474 (GRCm39)	T412A	probably benign	Het
Skint6	T	C	4: 113,095,566 (GRCm39)	N31S	probably benign	Het
Slc22a2	T	C	17: 12,805,770 (GRCm39)		probably null	Het
Slc8a2	C	T	7: 15,874,538 (GRCm39)	T262I	possibly damaging	Het
Smarcc1	A	T	9: 109,979,082 (GRCm39)	K188N	probably damaging	Het
Taf6	T	C	5: 138,177,088 (GRCm39)	T660A	possibly damaging	Het
Tbx2	C	T	11: 85,725,540 (GRCm39)	R164C	probably damaging	Het
Tec	T	C	5: 72,939,355 (GRCm39)	D220G	probably null	Het
Tfec	A	T	6: 16,867,464 (GRCm39)	W59R	probably damaging	Het
Tmtc2	G	T	10: 105,409,587 (GRCm39)	S8R	probably benign	Het
Tmtc3	A	T	10: 100,283,467 (GRCm39)	M696K	probably benign	Het
Trpc3	A	T	3: 36,694,882 (GRCm39)	S691T	possibly damaging	Het
Ttf2	A	T	3: 100,866,623 (GRCm39)	M503K	probably benign	Het
Ttll7	A	G	3: 146,619,031 (GRCm39)	H312R	probably damaging	Het
Ttn	T	C	2: 76,598,032 (GRCm39)	Y19627C	probably damaging	Het
Ugt2b35	T	C	5: 87,149,177 (GRCm39)	S143P	probably benign	Het
Usp53	A	G	3: 122,751,299 (GRCm39)	S253P	probably damaging	Het
Utp18	A	G	11: 93,776,206 (GRCm39)	V93A	probably benign	Het
Utrn	T	C	10: 12,277,079 (GRCm39)	N3413D	possibly damaging	Het
Zhx1	T	C	15: 57,916,647 (GRCm39)	D533G	possibly damaging	Het

Other mutations in Gaa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Gaa	APN	11	119,165,786 (GRCm39)	missense	probably benign
IGL00780:Gaa	APN	11	119,165,117 (GRCm39)	splice site	probably null
IGL00975:Gaa	APN	11	119,165,509 (GRCm39)	missense	possibly damaging	0.93
IGL01354:Gaa	APN	11	119,161,394 (GRCm39)	missense	probably benign	0.18
IGL01572:Gaa	APN	11	119,175,003 (GRCm39)	missense	probably benign
IGL01634:Gaa	APN	11	119,164,902 (GRCm39)	missense	possibly damaging	0.79
IGL01724:Gaa	APN	11	119,165,947 (GRCm39)	missense	possibly damaging	0.65
IGL01889:Gaa	APN	11	119,169,123 (GRCm39)	missense	probably benign	0.03
IGL02052:Gaa	APN	11	119,175,021 (GRCm39)	missense	possibly damaging	0.76
IGL02173:Gaa	APN	11	119,165,739 (GRCm39)	missense	probably damaging	1.00
IGL02261:Gaa	APN	11	119,172,091 (GRCm39)	makesense	probably null
IGL02337:Gaa	APN	11	119,168,429 (GRCm39)	missense	probably damaging	1.00
IGL02625:Gaa	APN	11	119,165,559 (GRCm39)	missense	probably damaging	1.00
IGL02818:Gaa	APN	11	119,167,674 (GRCm39)	missense	probably damaging	0.97
R0135:Gaa	UTSW	11	119,169,716 (GRCm39)	missense	probably benign	0.00
R0280:Gaa	UTSW	11	119,175,373 (GRCm39)	missense	probably damaging	1.00
R0479:Gaa	UTSW	11	119,172,062 (GRCm39)	missense	possibly damaging	0.95
R1130:Gaa	UTSW	11	119,165,509 (GRCm39)	missense	probably damaging	0.97
R1132:Gaa	UTSW	11	119,175,885 (GRCm39)	missense	probably damaging	0.99
R1146:Gaa	UTSW	11	119,165,730 (GRCm39)	missense	probably damaging	1.00
R1146:Gaa	UTSW	11	119,165,730 (GRCm39)	missense	probably damaging	1.00
R1179:Gaa	UTSW	11	119,171,954 (GRCm39)	missense	probably damaging	0.98
R1464:Gaa	UTSW	11	119,163,810 (GRCm39)	missense	probably benign	0.02
R1464:Gaa	UTSW	11	119,163,810 (GRCm39)	missense	probably benign	0.02
R1475:Gaa	UTSW	11	119,165,142 (GRCm39)	splice site	probably null
R1711:Gaa	UTSW	11	119,171,286 (GRCm39)	missense	probably damaging	1.00
R1817:Gaa	UTSW	11	119,175,324 (GRCm39)	nonsense	probably null
R1828:Gaa	UTSW	11	119,174,098 (GRCm39)	missense	probably damaging	0.99
R2013:Gaa	UTSW	11	119,175,409 (GRCm39)	splice site	probably null
R2126:Gaa	UTSW	11	119,161,108 (GRCm39)	nonsense	probably null
R2179:Gaa	UTSW	11	119,165,884 (GRCm39)	critical splice acceptor site	probably null
R2496:Gaa	UTSW	11	119,174,531 (GRCm39)	missense	possibly damaging	0.53
R2936:Gaa	UTSW	11	119,174,550 (GRCm39)	missense	probably benign	0.02
R4321:Gaa	UTSW	11	119,160,963 (GRCm39)	missense	probably benign	0.20
R4603:Gaa	UTSW	11	119,169,784 (GRCm39)	missense	probably damaging	1.00
R4849:Gaa	UTSW	11	119,163,813 (GRCm39)	missense	possibly damaging	0.95
R5225:Gaa	UTSW	11	119,167,669 (GRCm39)	missense	probably damaging	1.00
R5643:Gaa	UTSW	11	119,171,361 (GRCm39)	missense	possibly damaging	0.96
R5644:Gaa	UTSW	11	119,171,361 (GRCm39)	missense	possibly damaging	0.96
R6074:Gaa	UTSW	11	119,175,012 (GRCm39)	missense	probably benign	0.07
R6154:Gaa	UTSW	11	119,169,178 (GRCm39)	missense	probably damaging	1.00
R6208:Gaa	UTSW	11	119,171,997 (GRCm39)	missense	probably benign	0.01
R6209:Gaa	UTSW	11	119,171,997 (GRCm39)	missense	probably benign	0.01
R6258:Gaa	UTSW	11	119,171,997 (GRCm39)	missense	probably benign	0.01
R6259:Gaa	UTSW	11	119,171,997 (GRCm39)	missense	probably benign	0.01
R6260:Gaa	UTSW	11	119,171,997 (GRCm39)	missense	probably benign	0.01
R7173:Gaa	UTSW	11	119,169,817 (GRCm39)	missense	probably damaging	1.00
R7379:Gaa	UTSW	11	119,174,525 (GRCm39)	missense	probably benign
R8011:Gaa	UTSW	11	119,163,762 (GRCm39)	missense	probably benign	0.00
R8135:Gaa	UTSW	11	119,169,210 (GRCm39)	critical splice donor site	probably null
R8192:Gaa	UTSW	11	119,161,235 (GRCm39)	missense	possibly damaging	0.92
R8807:Gaa	UTSW	11	119,168,393 (GRCm39)	missense	probably benign	0.02
R9028:Gaa	UTSW	11	119,161,207 (GRCm39)	missense	probably benign	0.16
R9453:Gaa	UTSW	11	119,165,959 (GRCm39)	missense	probably benign	0.21
R9453:Gaa	UTSW	11	119,165,958 (GRCm39)	missense	probably damaging	1.00
X0064:Gaa	UTSW	11	119,164,841 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGGTCTGAGGTATGACATG -3'
(R):5'- AGTGTCACTGGACCATGACC -3'

Sequencing Primer
(F):5'- TGAGGTATGACATGTGCCCCATC -3'
(R):5'- TCACTGGACCATGACCGTGAG -3'

Posted On

2019-06-26