Mutagenetix > Incidental Mutation

Incidental Mutation 'R2936:Gaa'

255027

Institutional Source

Beutler Lab

Gene Symbol

Gaa

Ensembl Gene

ENSMUSG00000025579

Gene Name

glucosidase, alpha, acid

Synonyms

E430018M07Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.731) question?

Stock #

R2936 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119158789-119176284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119174550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 799 (V799A)

Ref Sequence

ENSEMBL: ENSMUSP00000101866 (fasta)

Gene Model

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

AlphaFold

P70699

Predicted Effect

probably benign
Transcript: ENSMUST00000026666
AA Change: V799A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000026666
Gene: ENSMUSG00000025579
AA Change: V799A

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

probably benign
Transcript: ENSMUST00000106259
AA Change: V799A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000101866
Gene: ENSMUSG00000025579
AA Change: V799A

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

noncoding transcript
Transcript: ENSMUST00000129044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138849

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	A	T	18: 70,601,519 (GRCm39)	M121K	probably damaging	Het
Cacybp	A	T	1: 160,035,947 (GRCm39)		probably null	Het
Cd6	T	C	19: 10,773,686 (GRCm39)		probably null	Het
Cep162	T	C	9: 87,109,467 (GRCm39)	T379A	probably benign	Het
Gm16503	A	G	4: 147,625,704 (GRCm39)	D66G	unknown	Het
Hspa9	T	C	18: 35,081,067 (GRCm39)	T205A	probably damaging	Het
Ihh	A	G	1: 74,985,705 (GRCm39)	I260T	probably damaging	Het
Jcad	T	A	18: 4,675,153 (GRCm39)	Y972N	probably benign	Het
Magi2	A	AG	5: 20,807,459 (GRCm39)		probably null	Het
Mmp12	A	G	9: 7,357,819 (GRCm39)	Q341R	probably benign	Het
Nup155	T	C	15: 8,172,533 (GRCm39)	S840P	possibly damaging	Het
Or4l15	A	T	14: 50,197,611 (GRCm39)	V306E	probably benign	Het
Pde4b	C	T	4: 102,458,742 (GRCm39)	A466V	probably damaging	Het
Pde5a	A	G	3: 122,587,968 (GRCm39)	E378G	probably damaging	Het
Rad54l	T	C	4: 115,980,076 (GRCm39)		probably benign	Het
Stbd1	C	T	5: 92,751,119 (GRCm39)	P51L	possibly damaging	Het
Tent4a	G	A	13: 69,650,446 (GRCm39)	T621I	possibly damaging	Het
Tnfaip3	A	G	10: 18,887,357 (GRCm39)	F56S	probably damaging	Het
Tnr	A	C	1: 159,715,932 (GRCm39)	Y898S	probably damaging	Het
Trav6n-6	A	G	14: 53,370,341 (GRCm39)	T31A	probably benign	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
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
R7211:Gaa	UTSW	11	119,175,030 (GRCm39)	missense	possibly damaging	0.80
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'- TGTCCCAAGAGCACGCATAG -3'
(R):5'- AGGGGTGTATCCTGACAGTTC -3'

Sequencing Primer
(F):5'- TAGACCACCACACATAGCCTTGG -3'
(R):5'- TATCCTGACAGTTCCAGGGAG -3'

Posted On

2014-12-29