Mutagenetix > Incidental Mutations

Incidental Mutation 'R6260:Gaa'

506641

Institutional Source

Beutler Lab

Gene Symbol

Gaa

Ensembl Gene

ENSMUSG00000025579

Gene Name

glucosidase, alpha, acid

Synonyms

E430018M07Rik

MMRRC Submission

044377-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.626) question?

Stock #

R6260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119267887-119285454 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 119281171 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 700 (A700D)

Ref Sequence

ENSEMBL: ENSMUSP00000101866 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000026666
AA Change: A700D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000026666
Gene: ENSMUSG00000025579
AA Change: A700D

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: ENSMUST00000106259
AA Change: A700D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000101866
Gene: ENSMUSG00000025579
AA Change: A700D

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: ENSMUST00000132706

SMART Domains

Protein: ENSMUSP00000119702
Gene: ENSMUSG00000025579

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: A176D

SMART Domains

Protein: ENSMUSP00000121984
Gene: ENSMUSG00000025579
AA Change: A176D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 80,008,987	N1514K	probably damaging	Het
Abcb4	G	T	5: 8,934,219	G650*	probably null	Het
Acsbg1	T	A	9: 54,628,467		probably null	Het
Alms1	A	T	6: 85,628,735	K2456*	probably null	Het
Alppl2	A	T	1: 87,088,462	M225K	probably damaging	Het
Ank2	C	T	3: 126,943,557	V2806I	probably benign	Het
Atxn10	A	T	15: 85,462,411	I457F	probably benign	Het
Cad	G	T	5: 31,066,800	M800I	probably null	Het
Carmil3	T	A	14: 55,500,432	L815Q	probably damaging	Het
Ccz1	A	G	5: 144,004,041		probably null	Het
Cdc73	G	A	1: 143,691,473	T104I	probably benign	Het
Cfap52	A	T	11: 67,938,954	C330S	possibly damaging	Het
Clec16a	C	T	16: 10,694,848		probably benign	Het
Cntn3	A	G	6: 102,277,217		probably null	Het
Crocc2	A	G	1: 93,213,638	K1171R	possibly damaging	Het
Ctsa	T	C	2: 164,834,361	V86A	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Ddhd2	A	G	8: 25,752,117	F244L	probably benign	Het
Ddn	A	G	15: 98,805,854	V519A	possibly damaging	Het
Dip2b	G	T	15: 100,162,702	V253L	probably benign	Het
Dnah17	C	A	11: 118,126,322	W197C	probably damaging	Het
Dnah17	C	T	11: 118,126,323	W197*	probably null	Het
Dnah17	A	T	11: 118,126,324	W197R	probably damaging	Het
Ercc6	T	A	14: 32,557,856	D609E	probably benign	Het
Erg	C	A	16: 95,380,241	R147L	probably damaging	Het
Fbxo41	A	T	6: 85,478,555	L549H	probably damaging	Het
Foxd4	A	G	19: 24,899,604	S411P	probably benign	Het
Galntl6	T	A	8: 57,884,481	D135V	probably damaging	Het
Gm1043	G	C	5: 37,174,472	G832A	probably benign	Het
Gm14085	A	T	2: 122,523,482	I530F	probably damaging	Het
Gm21103	C	T	14: 6,303,847	E68K	probably damaging	Het
Gm340	A	T	19: 41,582,370	S1C	probably null	Het
Gm340	G	T	19: 41,582,371	S1I	possibly damaging	Het
Gpam	A	G	19: 55,083,406	V301A	probably benign	Het
H2-M10.1	T	A	17: 36,324,102	I304F	unknown	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Jak3	C	A	8: 71,679,310	Q177K	probably benign	Het
Kcnu1	G	A	8: 25,851,891	R88H	probably damaging	Het
Kng1	A	T	16: 23,058,621	I60F	possibly damaging	Het
Krt77	A	T	15: 101,864,372	Y257*	probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Map4k5	C	A	12: 69,831,562	R355L	probably benign	Het
Mefv	C	T	16: 3,713,034	R498H	probably benign	Het
Mical3	A	T	6: 121,009,030	L150Q	probably damaging	Het
Mtcl1	T	A	17: 66,343,541	Q1340L	probably damaging	Het
Nfic	A	T	10: 81,420,517	C126*	probably null	Het
Nisch	T	A	14: 31,177,128		probably benign	Het
Nt5dc3	A	G	10: 86,811,531	Y130C	probably damaging	Het
Olfr1309	C	T	2: 111,984,051	V8I	probably benign	Het
Olfr694	A	T	7: 106,688,872	N286K	probably damaging	Het
Olfr808	C	A	10: 129,767,520	T8K	probably benign	Het
Pcdhb12	T	C	18: 37,436,839	V346A	probably benign	Het
Pla2g4a	A	G	1: 149,857,487	S504P	probably benign	Het
Plin2	G	T	4: 86,657,289	A341D	probably damaging	Het
Plxnb2	A	T	15: 89,165,291	I575N	probably benign	Het
Pnmal2	T	G	7: 16,946,233	W381G	probably benign	Het
Psma8	A	G	18: 14,721,267	D68G	probably damaging	Het
Rcor3	G	A	1: 192,124,259	H207Y	probably benign	Het
Rwdd2b	C	A	16: 87,434,468	G266V	probably damaging	Het
Ryr3	A	G	2: 112,660,104	F3795S	probably damaging	Het
Sord	T	A	2: 122,259,132		probably null	Het
Spdl1	T	A	11: 34,819,886	N345I	probably damaging	Het
St8sia2	T	A	7: 73,976,693	R42S	possibly damaging	Het
Syt9	G	T	7: 107,436,510	V245F	possibly damaging	Het
Tbpl2	T	A	2: 24,094,886	N82I	possibly damaging	Het
Tcerg1	T	A	18: 42,553,465	Y696N	probably damaging	Het
Thsd7b	A	G	1: 129,667,918	T492A	probably benign	Het
Timm13	A	C	10: 80,900,301		probably benign	Het
Trdmt1	T	A	2: 13,520,059	Q195L	probably benign	Het
Ttc27	T	A	17: 74,858,091	V764D	probably damaging	Het
Ttc39d	C	A	17: 80,216,647	S245*	probably null	Het
Ttc41	A	G	10: 86,731,159	E563G	probably benign	Het
Ttc41	A	T	10: 86,733,707	T650S	probably benign	Het
U2surp	A	C	9: 95,476,157	L723R	probably damaging	Het
Ubqln3	G	A	7: 104,142,317	Q189*	probably null	Het
Vezf1	A	G	11: 88,081,500	N229S	probably damaging	Het
Vmn2r79	T	A	7: 87,037,157	M582K	probably benign	Het
Zfp518a	A	G	19: 40,914,123	D832G	probably benign	Het
Zfyve28	T	C	5: 34,198,872	N762D	probably damaging	Het

Other mutations in Gaa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Gaa	APN	11	119274960	missense	probably benign
IGL00780:Gaa	APN	11	119274291	unclassified	probably null
IGL00975:Gaa	APN	11	119274683	missense	possibly damaging	0.93
IGL01354:Gaa	APN	11	119270568	missense	probably benign	0.18
IGL01572:Gaa	APN	11	119284177	missense	probably benign
IGL01634:Gaa	APN	11	119274076	missense	possibly damaging	0.79
IGL01724:Gaa	APN	11	119275121	missense	possibly damaging	0.65
IGL01889:Gaa	APN	11	119278297	missense	probably benign	0.03
IGL02052:Gaa	APN	11	119284195	missense	possibly damaging	0.76
IGL02173:Gaa	APN	11	119274913	missense	probably damaging	1.00
IGL02261:Gaa	APN	11	119281265	makesense	probably null
IGL02337:Gaa	APN	11	119277603	missense	probably damaging	1.00
IGL02625:Gaa	APN	11	119274733	missense	probably damaging	1.00
IGL02818:Gaa	APN	11	119276848	missense	probably damaging	0.97
R0135:Gaa	UTSW	11	119278890	missense	probably benign	0.00
R0280:Gaa	UTSW	11	119284547	missense	probably damaging	1.00
R0479:Gaa	UTSW	11	119281236	missense	possibly damaging	0.95
R1130:Gaa	UTSW	11	119274683	missense	probably damaging	0.97
R1132:Gaa	UTSW	11	119285059	missense	probably damaging	0.99
R1146:Gaa	UTSW	11	119274904	missense	probably damaging	1.00
R1146:Gaa	UTSW	11	119274904	missense	probably damaging	1.00
R1179:Gaa	UTSW	11	119281128	missense	probably damaging	0.98
R1464:Gaa	UTSW	11	119272984	missense	probably benign	0.02
R1464:Gaa	UTSW	11	119272984	missense	probably benign	0.02
R1475:Gaa	UTSW	11	119274316	splice site	probably null
R1711:Gaa	UTSW	11	119280460	missense	probably damaging	1.00
R1817:Gaa	UTSW	11	119284498	nonsense	probably null
R1828:Gaa	UTSW	11	119283272	missense	probably damaging	0.99
R2013:Gaa	UTSW	11	119284583	unclassified	probably null
R2126:Gaa	UTSW	11	119270282	nonsense	probably null
R2179:Gaa	UTSW	11	119275058	critical splice acceptor site	probably null
R2496:Gaa	UTSW	11	119283705	missense	possibly damaging	0.53
R2936:Gaa	UTSW	11	119283724	missense	probably benign	0.02
R4321:Gaa	UTSW	11	119270137	missense	probably benign	0.20
R4603:Gaa	UTSW	11	119278958	missense	probably damaging	1.00
R4849:Gaa	UTSW	11	119272987	missense	possibly damaging	0.95
R5225:Gaa	UTSW	11	119276843	missense	probably damaging	1.00
R5643:Gaa	UTSW	11	119280535	missense	possibly damaging	0.96
R5644:Gaa	UTSW	11	119280535	missense	possibly damaging	0.96
R6074:Gaa	UTSW	11	119284186	missense	probably benign	0.07
R6154:Gaa	UTSW	11	119278352	missense	probably damaging	1.00
R6208:Gaa	UTSW	11	119281171	missense	probably benign	0.01
R6209:Gaa	UTSW	11	119281171	missense	probably benign	0.01
R6258:Gaa	UTSW	11	119281171	missense	probably benign	0.01
R6259:Gaa	UTSW	11	119281171	missense	probably benign	0.01
R7173:Gaa	UTSW	11	119278991	missense	probably damaging	1.00
R7211:Gaa	UTSW	11	119284204	missense	possibly damaging	0.80
R7379:Gaa	UTSW	11	119283699	missense	probably benign
R8011:Gaa	UTSW	11	119272936	missense	probably benign	0.00
X0064:Gaa	UTSW	11	119274015	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGACACTTCCTGTTCTAGTG -3'
(R):5'- TGTGAGAACACCCCTAGCAG -3'

Sequencing Primer
(F):5'- GGCAGAAAGGGTTTATTCCATCC -3'
(R):5'- GGAGGGACTTCTCGGGCAC -3'

Posted On

2018-03-15