Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01889:Gaa'

179201

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gaa

Ensembl Gene

ENSMUSG00000025579

Gene Name

glucosidase, alpha, acid

Synonyms

E430018M07Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.722) question?

Stock #

IGL01889

Quality Score

Status

Chromosome

Chromosomal Location

119158789-119176284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119169123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 557 (I557V)

Ref Sequence

ENSEMBL: ENSMUSP00000101866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026666] [ENSMUST00000106258] [ENSMUST00000106259] [ENSMUST00000132706]

AlphaFold

P70699

Predicted Effect

probably benign
Transcript: ENSMUST00000026666
AA Change: I557V

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000026666
Gene: ENSMUSG00000025579
AA Change: I557V

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: ENSMUST00000106258

SMART Domains

Protein: ENSMUSP00000101865
Gene: ENSMUSG00000025579

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PD	80	134	1.08e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106259
AA Change: I557V

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000101866
Gene: ENSMUSG00000025579
AA Change: I557V

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: ENSMUST00000128753

Predicted Effect

probably benign
Transcript: ENSMUST00000132706
AA Change: I263V

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

SMART Domains

Protein: ENSMUSP00000119702
Gene: ENSMUSG00000025579
AA Change: I263V

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_31	46	269	2.9e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138510

Predicted Effect

unknown
Transcript: ENSMUST00000143288
AA Change: I33V

SMART Domains

Protein: ENSMUSP00000121984
Gene: ENSMUSG00000025579
AA Change: I33V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150562

SMART Domains

Protein: ENSMUSP00000115128
Gene: ENSMUSG00000025579

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_31	1	96	4.3e-28	PFAM

Coding Region Coverage

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	G	A	6: 92,804,981 (GRCm39)		probably benign	Het
Brap	G	A	5: 121,798,881 (GRCm39)	V18I	probably benign	Het
Csmd1	C	T	8: 16,048,857 (GRCm39)	V2282M	probably damaging	Het
Flnb	A	G	14: 7,935,967 (GRCm38)	E2269G	possibly damaging	Het
Gapt	T	A	13: 110,490,501 (GRCm39)	Q54L	probably benign	Het
Gsdmc	A	T	15: 63,651,852 (GRCm39)	I253N	possibly damaging	Het
Kcnj3	T	A	2: 55,327,216 (GRCm39)	S2T	possibly damaging	Het
Mindy2	T	C	9: 70,538,444 (GRCm39)		probably benign	Het
Ncor1	A	G	11: 62,225,427 (GRCm39)	V1048A	possibly damaging	Het
Nlrp4d	A	T	7: 10,112,261 (GRCm39)	V636D	unknown	Het
Nphs1	G	T	7: 30,159,936 (GRCm39)	R82S	probably damaging	Het
Or10a3m	T	A	7: 108,313,089 (GRCm39)	F164L	probably benign	Het
Or4x6	A	G	2: 89,949,309 (GRCm39)	V211A	possibly damaging	Het
Or6z3	G	A	7: 6,463,502 (GRCm39)		probably benign	Het
Papln	T	A	12: 83,833,609 (GRCm39)	L1175Q	probably benign	Het
Rab22a	T	C	2: 173,530,031 (GRCm39)		probably benign	Het
Rel	A	G	11: 23,707,035 (GRCm39)	Y56H	probably damaging	Het
Sdc4	A	G	2: 164,273,127 (GRCm39)	L61P	probably damaging	Het
Slc1a4	A	G	11: 20,264,089 (GRCm39)		probably benign	Het
Ubr4	T	A	4: 139,189,783 (GRCm39)	C3989*	probably null	Het
Zfyve16	A	G	13: 92,659,077 (GRCm39)	V278A	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
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
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

Posted On

2014-05-07