Mutagenetix > Incidental Mutations

Incidental Mutation 'R1828:Gaa'

207032

Institutional Source

Beutler Lab

Gene Symbol

Gaa

Ensembl Gene

ENSMUSG00000025579

Gene Name

glucosidase, alpha, acid

Synonyms

E430018M07Rik

MMRRC Submission

039855-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.494) question?

Stock #

R1828 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119267887-119285454 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119283272 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 763 (V763A)

Ref Sequence

ENSEMBL: ENSMUSP00000101866 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000026666
AA Change: V763A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026666
Gene: ENSMUSG00000025579
AA Change: V763A

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 damaging
Transcript: ENSMUST00000106259
AA Change: V763A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101866
Gene: ENSMUSG00000025579
AA Change: V763A

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

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: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	C	17: 40,880,071	T156A	probably benign	Het
9230106D20Rik	A	T	10: 19,660,317		noncoding transcript	Het
Abca3	A	G	17: 24,366,197	D144G	probably benign	Het
Anxa2	T	A	9: 69,482,978	L121Q	probably damaging	Het
Anxa7	A	T	14: 20,462,664	I267N	probably damaging	Het
Asb14	A	T	14: 26,911,840	D334V	possibly damaging	Het
Batf3	A	G	1: 191,098,517	N20S	probably benign	Het
BC067074	T	A	13: 113,368,808	L2157Q	probably damaging	Het
Bub1b	A	G	2: 118,638,439	H895R	probably benign	Het
C1qtnf12	G	A	4: 155,965,703		probably null	Het
Cars	T	C	7: 143,576,648	I294V	probably damaging	Het
Ccdc142	G	A	6: 83,107,481	A527T	probably damaging	Het
Ccdc92	T	C	5: 124,836,178	N96D	probably benign	Het
Ceacam18	T	A	7: 43,639,456	D210E	probably benign	Het
Cenpe	A	G	3: 135,246,496	T1373A	probably damaging	Het
Cfap161	T	G	7: 83,791,724		probably null	Het
Cldn19	A	G	4: 119,255,793	D74G	probably benign	Het
Clec12a	A	G	6: 129,353,799	T115A	probably damaging	Het
Cox7a2l	T	A	17: 83,503,968	Q78L	probably benign	Het
Crot	T	C	5: 8,969,080	N491S	probably benign	Het
Ctr9	A	G	7: 111,043,958		probably null	Het
Cyp4f14	T	G	17: 32,911,235	D190A	probably damaging	Het
D630039A03Rik	C	T	4: 57,910,240	V191I	probably benign	Het
Dnah10	A	T	5: 124,761,279	N1124I	probably benign	Het
Duox1	T	A	2: 122,347,380	Y1548*	probably null	Het
E430018J23Rik	T	A	7: 127,391,909	H302L	probably damaging	Het
Epdr1	G	A	13: 19,594,603	Q6*	probably null	Het
Erbin	A	G	13: 103,860,069		probably null	Het
Ero1l	A	T	14: 45,287,760	I436K	probably damaging	Het
Exph5	A	T	9: 53,376,641	Q1674L	possibly damaging	Het
Fat4	A	T	3: 38,983,458	Y3753F	probably damaging	Het
Gm8251	A	T	1: 44,057,074	N1621K	possibly damaging	Het
Golim4	G	A	3: 75,902,438	T216I	probably damaging	Het
Gpr83	G	T	9: 14,868,333	C269F	possibly damaging	Het
Gtf2f2	A	G	14: 76,007,703		probably null	Het
Gtf3c5	T	C	2: 28,579,682	Y70C	probably damaging	Het
Hao1	T	A	2: 134,530,664	R141S	probably benign	Het
Hecw2	T	C	1: 53,926,023	D548G	probably benign	Het
Hr	G	A	14: 70,572,037		probably null	Het
Hrg	A	C	16: 22,956,103	E161A	probably damaging	Het
Hydin	A	T	8: 110,510,894	N1933I	probably benign	Het
Itpr2	A	G	6: 146,328,332	L1255P	probably damaging	Het
Kcnma1	C	A	14: 23,330,929	D903Y	probably damaging	Het
Kif5c	T	C	2: 49,680,240		probably null	Het
Mgat5b	C	A	11: 116,977,788	H512Q	probably damaging	Het
Mtmr4	T	C	11: 87,612,117	V999A	probably benign	Het
Mttp	G	T	3: 138,107,280	Q545K	probably damaging	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 172,071,471		probably null	Het
Nexn	A	G	3: 152,242,768	I386T	probably damaging	Het
Nrip3	A	G	7: 109,766,556	S85P	probably benign	Het
Nxpe2	T	C	9: 48,326,614	T114A	probably damaging	Het
Olfr1202	A	T	2: 88,818,058	I296F	probably benign	Het
Olfr126	C	T	17: 37,851,075	A161V	probably benign	Het
Olfr32	A	G	2: 90,138,587	L184S	probably damaging	Het
Olfr508	G	T	7: 108,630,648	V219F	possibly damaging	Het
Olfr543	A	G	7: 102,477,513	L119P	probably damaging	Het
Olr1	T	C	6: 129,488,932	N37S	possibly damaging	Het
Pax4	T	C	6: 28,443,447	Y290C	probably benign	Het
Pcdhb2	T	A	18: 37,295,985	V337D	probably damaging	Het
Pglyrp4	T	C	3: 90,733,003	Y187H	probably damaging	Het
Pi4ka	A	G	16: 17,280,750	M2017T	probably benign	Het
Pkdrej	T	C	15: 85,819,282	T818A	possibly damaging	Het
Pxk	C	T	14: 8,151,507	R441*	probably null	Het
Pygm	T	C	19: 6,397,607	I648T	possibly damaging	Het
Rab4a	A	T	8: 123,823,826	K15I	probably damaging	Het
Rasa3	T	C	8: 13,585,035	E428G	probably benign	Het
Rnf182	G	A	13: 43,668,534	W187*	probably null	Het
Rpl3	C	T	15: 80,080,390	V222M	possibly damaging	Het
Rtl9	C	T	X: 143,103,015	S1141F	possibly damaging	Het
S100a11	A	T	3: 93,526,121	I91F	probably benign	Het
Sfswap	C	T	5: 129,513,084	T215I	probably damaging	Het
Slit2	A	G	5: 48,304,030	D1456G	probably damaging	Het
Tex19.2	C	T	11: 121,117,491	V44I	probably benign	Het
Tex33	T	C	15: 78,386,388	Y60C	possibly damaging	Het
Tmem127	G	A	2: 127,256,174		probably null	Het
Tpd52	G	T	3: 8,947,519	N59K	probably damaging	Het
Trpc3	G	A	3: 36,638,546	P766S	possibly damaging	Het
Usp17la	T	A	7: 104,861,124	V312D	probably damaging	Het
Xirp2	A	G	2: 67,515,238	N2608D	possibly damaging	Het
Zscan25	C	A	5: 145,291,048	H507Q	possibly 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
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
R6260:Gaa	UTSW	11	119281171	missense	probably benign	0.01
X0064:Gaa	UTSW	11	119274015	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATTGCTCTGTGCTCTGGC -3'
(R):5'- TGGAAGCTACCTACTCCAGAC -3'

Sequencing Primer
(F):5'- TGGCACAAGTGTCTTAGATCC -3'
(R):5'- AAGCTACCTACTCCAGACTTAATTTC -3'

Posted On

2014-06-23