Mutagenetix > Incidental Mutation

Incidental Mutation 'R5643:Gaa'

440882

Institutional Source

Beutler Lab

Gene Symbol

Gaa

Ensembl Gene

ENSMUSG00000025579

Gene Name

glucosidase, alpha, acid

Synonyms

E430018M07Rik

MMRRC Submission

043291-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.731) question?

Stock #

R5643 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119158789-119176284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119171361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 671 (M671K)

Ref Sequence

ENSEMBL: ENSMUSP00000101866 (fasta)

Gene Model

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

AlphaFold

P70699

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026666
AA Change: M671K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026666
Gene: ENSMUSG00000025579
AA Change: M671K

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

possibly damaging
Transcript: ENSMUST00000106259
AA Change: M671K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101866
Gene: ENSMUSG00000025579
AA Change: M671K

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: M147K

SMART Domains

Protein: ENSMUSP00000121984
Gene: ENSMUSG00000025579
AA Change: M147K

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

Meta Mutation Damage Score

0.7776

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (110/117)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,988,021 (GRCm39)	K3102E	possibly damaging	Het
Akap13	T	C	7: 75,351,902 (GRCm39)		probably null	Het
Akp3	A	T	1: 87,055,485 (GRCm39)	T511S	unknown	Het
Alkal2	T	A	12: 30,934,889 (GRCm39)	L36Q	probably damaging	Het
Arhgef17	A	T	7: 100,529,218 (GRCm39)	V523E	probably damaging	Het
Asah1	G	T	8: 41,813,332 (GRCm39)	T27K	possibly damaging	Het
Bag2	A	G	1: 33,786,034 (GRCm39)	V96A	probably damaging	Het
Bicd1	C	T	6: 149,421,901 (GRCm39)	A874V	probably damaging	Het
C4b	T	C	17: 34,961,391 (GRCm39)	I189M	probably benign	Het
Calcr	A	G	6: 3,708,538 (GRCm39)	I216T	probably damaging	Het
Cdk5rap2	T	A	4: 70,184,970 (GRCm39)	D1160V	probably damaging	Het
Cep128	A	T	12: 91,315,625 (GRCm39)	I87K	probably damaging	Het
Cep170b	C	G	12: 112,707,275 (GRCm39)	H1256Q	probably benign	Het
Chd2	A	T	7: 73,134,232 (GRCm39)	V705E	probably damaging	Het
Clec12b	T	A	6: 129,356,923 (GRCm39)	I172L	probably benign	Het
Cobl	A	T	11: 12,256,948 (GRCm39)		probably benign	Het
Col5a2	T	A	1: 45,429,202 (GRCm39)	D972V	probably damaging	Het
Csrp1	A	T	1: 135,678,797 (GRCm39)	N174I	probably damaging	Het
Dnah7a	T	A	1: 53,444,866 (GRCm39)	H3946L	probably benign	Het
Dnajc21	A	T	15: 10,462,001 (GRCm39)	D133E	probably benign	Het
Dvl3	T	A	16: 20,345,026 (GRCm39)	I353N	probably damaging	Het
Elavl3	A	T	9: 21,930,029 (GRCm39)	S292T	probably benign	Het
Ephb2	T	C	4: 136,498,923 (GRCm39)	N52S	probably damaging	Het
Gabrg3	T	C	7: 56,423,032 (GRCm39)	D222G	possibly damaging	Het
Gk5	C	T	9: 96,022,709 (GRCm39)	Q182*	probably null	Het
Gm14403	A	T	2: 177,199,054 (GRCm39)	H50L	possibly damaging	Het
Gzma	T	C	13: 113,234,794 (GRCm39)	T66A	probably damaging	Het
Hint2	T	C	4: 43,656,445 (GRCm39)		probably benign	Het
Hnmt	A	T	2: 23,904,251 (GRCm39)	W137R	probably damaging	Het
Hoga1	T	C	19: 42,048,402 (GRCm39)	V90A	probably benign	Het
Idua	A	T	5: 108,828,090 (GRCm39)		probably benign	Het
Kif1a	A	C	1: 92,983,489 (GRCm39)	S669R	probably damaging	Het
Klhdc7b	A	T	15: 89,271,862 (GRCm39)	M915L	possibly damaging	Het
Klhl41	A	G	2: 69,500,815 (GRCm39)	Y92C	probably damaging	Het
Klrc2	A	T	6: 129,633,420 (GRCm39)	C186S	probably damaging	Het
Lmo7	A	G	14: 102,166,772 (GRCm39)		probably benign	Het
Lrriq1	T	C	10: 103,051,301 (GRCm39)	M484V	probably benign	Het
Lzts1	A	G	8: 69,591,729 (GRCm39)	S140P	possibly damaging	Het
Mgat5b	T	A	11: 116,864,226 (GRCm39)	V464E	probably damaging	Het
Mms19	A	T	19: 41,944,305 (GRCm39)	D298E	possibly damaging	Het
Muc5ac	T	C	7: 141,347,452 (GRCm39)		probably null	Het
Mycbp2	T	A	14: 103,524,770 (GRCm39)	K597I	probably damaging	Het
Myo18a	C	A	11: 77,745,513 (GRCm39)	D1619E	probably benign	Het
Nfx1	T	C	4: 40,984,973 (GRCm39)	W366R	probably null	Het
Nipbl	C	T	15: 8,388,391 (GRCm39)	V410I	probably benign	Het
Or14j10	T	A	17: 37,935,323 (GRCm39)	I68F	probably benign	Het
Or4c101	T	A	2: 88,389,849 (GRCm39)	M1K	probably null	Het
Or4f60	A	T	2: 111,902,013 (GRCm39)	M305K	probably benign	Het
Or52h1	T	C	7: 103,829,091 (GRCm39)	I175V	probably benign	Het
Or5b95	A	T	19: 12,658,336 (GRCm39)	Y288F	probably damaging	Het
Or7g32	A	T	9: 19,388,853 (GRCm39)	M231K	probably benign	Het
Or8u10	T	C	2: 85,915,503 (GRCm39)	N206S	probably damaging	Het
Otog	A	T	7: 45,936,871 (GRCm39)	T1527S	probably damaging	Het
P2ry12	A	T	3: 59,125,516 (GRCm39)	M53K	possibly damaging	Het
Pask	A	G	1: 93,265,065 (GRCm39)		probably null	Het
Pcca	G	A	14: 123,124,481 (GRCm39)	C684Y	probably damaging	Het
Pcdhb10	A	G	18: 37,546,219 (GRCm39)	T432A	possibly damaging	Het
Peak1	T	C	9: 56,166,039 (GRCm39)	N630D	probably damaging	Het
Plbd2	A	T	5: 120,631,231 (GRCm39)		probably null	Het
Plekhg5	T	C	4: 152,188,797 (GRCm39)	V200A	probably benign	Het
Pola2	A	G	19: 6,011,198 (GRCm39)	V42A	probably benign	Het
Ppfibp2	T	A	7: 107,337,097 (GRCm39)	W572R	probably damaging	Het
Ppp6r1	C	T	7: 4,636,771 (GRCm39)	E679K	probably benign	Het
Pramel11	A	T	4: 143,622,337 (GRCm39)	H339Q	probably damaging	Het
Prdx3	G	A	19: 60,859,963 (GRCm39)	A70V	probably damaging	Het
Prkd2	T	C	7: 16,577,717 (GRCm39)	F57L	probably benign	Het
Prodh2	A	G	7: 30,206,171 (GRCm39)	T324A	possibly damaging	Het
Ptdss1	T	C	13: 67,120,604 (GRCm39)	F267L	probably damaging	Het
Rai14	T	A	15: 10,593,137 (GRCm39)	H169L	probably benign	Het
Rere	A	G	4: 150,701,700 (GRCm39)	H1360R	probably damaging	Het
Rfc3	C	T	5: 151,573,444 (GRCm39)	V40I	probably benign	Het
Rims1	T	A	1: 22,577,590 (GRCm39)	T219S	probably damaging	Het
Rnf169	T	C	7: 99,576,338 (GRCm39)	R289G	possibly damaging	Het
Senp7	T	C	16: 56,004,512 (GRCm39)		silent	Het
Sfmbt2	A	T	2: 10,573,184 (GRCm39)	I571F	probably damaging	Het
Slc11a2	C	A	15: 100,301,068 (GRCm39)	K328N	probably benign	Het
Slc25a10	A	G	11: 120,387,202 (GRCm39)		probably benign	Het
Slc38a8	T	C	8: 120,207,488 (GRCm39)	*433W	probably null	Het
Slco1a5	A	C	6: 142,183,320 (GRCm39)		probably null	Het
Smc6	T	A	12: 11,339,995 (GRCm39)	N434K	probably benign	Het
Syndig1	A	T	2: 149,741,428 (GRCm39)	I5F	possibly damaging	Het
Syt5	T	C	7: 4,546,018 (GRCm39)	Q124R	probably benign	Het
Taok3	A	C	5: 117,344,785 (GRCm39)	M171L	probably benign	Het
Tbrg1	T	C	9: 37,560,709 (GRCm39)	D389G	probably benign	Het
Tcaf2	G	A	6: 42,619,707 (GRCm39)	R107C	possibly damaging	Het
Tex14	C	A	11: 87,426,452 (GRCm39)	H1159Q	probably damaging	Het
Tmprss11d	T	A	5: 86,474,388 (GRCm39)	M190L	probably benign	Het
Ttn	T	A	2: 76,768,867 (GRCm39)	T2856S	probably damaging	Het
Ubr4	T	A	4: 139,171,998 (GRCm39)	M2997K	probably damaging	Het
Unc5c	C	T	3: 141,383,886 (GRCm39)	A88V	probably damaging	Het
Use1	T	C	8: 71,820,398 (GRCm39)		probably benign	Het
Vmn1r43	T	C	6: 89,847,354 (GRCm39)	N44S	probably damaging	Het
Vmn1r89	T	A	7: 12,954,146 (GRCm39)	V294D	possibly damaging	Het
Vmn2r11	A	T	5: 109,194,869 (GRCm39)	V819E	probably damaging	Het
Vmn2r120	T	A	17: 57,831,977 (GRCm39)	M271L	probably benign	Het
Vmn2r52	T	C	7: 9,905,059 (GRCm39)	Y260C	probably damaging	Het
Vmn2r67	T	A	7: 84,799,151 (GRCm39)	R519*	probably null	Het
Vmn2r69	T	A	7: 85,056,404 (GRCm39)	D578V	probably damaging	Het
Vmn2r85	T	C	10: 130,262,343 (GRCm39)	Y132C	probably damaging	Het
Wdr74	T	A	19: 8,715,240 (GRCm39)	V133E	probably damaging	Het
Zfp318	T	A	17: 46,720,170 (GRCm39)		probably benign	Het
Zfp810	A	T	9: 22,194,467 (GRCm39)	S74T	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
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
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'- ATGGCAAGGCTGGGTTCAAC -3'
(R):5'- AACAGGAAGTGTCTGGGCTC -3'

Sequencing Primer
(F):5'- TGGGTTCAACCTGCCCAG -3'
(R):5'- CTAGGCCTTGGGTTCAACAGAATTTC -3'

Posted On

2016-11-08