Mutagenetix > Incidental Mutation

Incidental Mutation 'R1711:Gaa'

190601

Institutional Source

Beutler Lab

Gene Symbol

Gaa

Ensembl Gene

ENSMUSG00000025579

Gene Name

glucosidase, alpha, acid

Synonyms

E430018M07Rik

MMRRC Submission

039744-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.731) question?

Stock #

R1711 (G1)

Quality Score

166

Status

Not validated

Chromosome

Chromosomal Location

119158789-119176284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119171286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 646 (I646N)

Ref Sequence

ENSEMBL: ENSMUSP00000101866 (fasta)

Gene Model

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

AlphaFold

P70699

Predicted Effect

probably damaging
Transcript: ENSMUST00000026666
AA Change: I646N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026666
Gene: ENSMUSG00000025579
AA Change: I646N

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: I646N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101866
Gene: ENSMUSG00000025579
AA Change: I646N

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: I122N

SMART Domains

Protein: ENSMUSP00000121984
Gene: ENSMUSG00000025579
AA Change: I122N

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

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.6%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,418,039 (GRCm39)	T741I	possibly damaging	Het
Aadacl4fm2	A	T	4: 144,281,976 (GRCm39)	I272K	probably damaging	Het
Acot3	A	T	12: 84,100,347 (GRCm39)	Q41L	probably damaging	Het
Actl7b	G	A	4: 56,740,165 (GRCm39)	Q398*	probably null	Het
Adgrb2	C	A	4: 129,886,417 (GRCm39)	Q186K	probably damaging	Het
Akr1a1	A	G	4: 116,495,171 (GRCm39)		probably null	Het
Ap3s2	A	T	7: 79,530,238 (GRCm39)	F192L	probably damaging	Het
Apobr	T	G	7: 126,184,151 (GRCm39)		probably null	Het
Arhgap5	A	G	12: 52,566,128 (GRCm39)	N1033S	probably damaging	Het
Arid3c	G	T	4: 41,725,947 (GRCm39)	R219S	probably damaging	Het
Bves	C	T	10: 45,223,961 (GRCm39)	T207M	probably damaging	Het
Cacna1d	T	C	14: 29,788,013 (GRCm39)	K1619R	probably damaging	Het
Caps2	A	T	10: 112,026,883 (GRCm39)	D223V	possibly damaging	Het
Cd3g	A	C	9: 44,885,640 (GRCm39)	L35R	probably damaging	Het
Cdh23	A	T	10: 60,359,315 (GRCm39)	V261E	probably benign	Het
Cfap54	T	G	10: 92,846,882 (GRCm39)	T1028P	probably damaging	Het
Ch25h	C	A	19: 34,451,686 (GRCm39)	V281L	probably benign	Het
Cip2a	A	C	16: 48,837,849 (GRCm39)	I850L	probably benign	Het
Clu	G	T	14: 66,218,354 (GRCm39)	V405L	possibly damaging	Het
Col6a3	A	T	1: 90,757,935 (GRCm39)	H6Q	probably damaging	Het
Cps1	G	A	1: 67,207,533 (GRCm39)		probably null	Het
Ctr9	T	C	7: 110,654,870 (GRCm39)	S1134P	unknown	Het
Cts7	C	T	13: 61,500,624 (GRCm39)	G308S	probably damaging	Het
Cyp2c39	C	A	19: 39,555,335 (GRCm39)	T385K	probably damaging	Het
Dennd5a	A	T	7: 109,517,919 (GRCm39)	D596E	probably benign	Het
Disc1	T	A	8: 125,851,349 (GRCm39)	I413K	probably benign	Het
Dll3	C	T	7: 27,993,922 (GRCm39)	G505D	probably damaging	Het
Dnah3	A	G	7: 119,677,794 (GRCm39)	W377R	probably damaging	Het
Dop1b	A	G	16: 93,596,814 (GRCm39)	D1792G	probably damaging	Het
Dpep3	T	A	8: 106,700,325 (GRCm39)	R460S	probably benign	Het
Ebf4	A	G	2: 130,200,751 (GRCm39)	N302S	probably damaging	Het
Efcab3	A	G	11: 104,611,514 (GRCm39)	K452R	probably benign	Het
Egflam	T	C	15: 7,319,396 (GRCm39)	E194G	possibly damaging	Het
Ep400	A	T	5: 110,841,174 (GRCm39)		probably benign	Het
Ercc6	T	C	14: 32,248,133 (GRCm39)	M228T	probably damaging	Het
Fbxo9	T	C	9: 77,994,529 (GRCm39)	T264A	probably damaging	Het
Fcrl5	C	A	3: 87,364,721 (GRCm39)	P486T	possibly damaging	Het
Fyb1	T	C	15: 6,609,960 (GRCm39)	F178L	probably damaging	Het
Gm5431	A	T	11: 48,785,853 (GRCm39)	V174E	possibly damaging	Het
Gnpat	T	G	8: 125,613,691 (GRCm39)		probably null	Het
Gucy1a2	G	T	9: 3,759,622 (GRCm39)	R476I	probably benign	Het
Hars1	A	G	18: 36,904,156 (GRCm39)	L241P	probably damaging	Het
Haus5	G	A	7: 30,357,328 (GRCm39)	Q399*	probably null	Het
Hephl1	T	C	9: 14,970,542 (GRCm39)	E984G	probably damaging	Het
Hmces	C	T	6: 87,898,574 (GRCm39)	Q132*	probably null	Het
Hsp90b1	G	T	10: 86,530,389 (GRCm39)	T490K	probably damaging	Het
Idh2	T	G	7: 79,748,906 (GRCm39)	E125A	probably damaging	Het
Ipo13	G	T	4: 117,761,719 (GRCm39)	H465Q	probably benign	Het
Isca2	C	A	12: 84,820,393 (GRCm39)	T31K	probably damaging	Het
Itga9	T	C	9: 118,527,529 (GRCm39)	V560A	probably benign	Het
Jhy	G	A	9: 40,822,453 (GRCm39)	Q562*	probably null	Het
Kcnj5	A	G	9: 32,233,865 (GRCm39)	I150T	probably damaging	Het
Kmt2a	A	G	9: 44,752,918 (GRCm39)	I1419T	unknown	Het
Lix1	T	C	17: 17,666,320 (GRCm39)	F160L	possibly damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Map4k1	A	T	7: 28,688,777 (GRCm39)	Q276L	possibly damaging	Het
Mmp9	G	A	2: 164,791,342 (GRCm39)	G171S	probably damaging	Het
Mvp	C	A	7: 126,594,907 (GRCm39)		probably null	Het
Mylk3	T	A	8: 86,091,460 (GRCm39)	E115V	probably damaging	Het
Nebl	T	A	2: 17,393,565 (GRCm39)	T603S	probably damaging	Het
Nudt15	T	C	14: 73,760,776 (GRCm39)	D105G	probably benign	Het
Or12j2	A	C	7: 139,915,912 (GRCm39)	T46P	possibly damaging	Het
Or2w1b	G	A	13: 21,300,476 (GRCm39)	V205I	probably benign	Het
Or51b6	T	A	7: 103,555,906 (GRCm39)	W87R	probably damaging	Het
Or52i2	G	T	7: 102,319,369 (GRCm39)	V81L	probably damaging	Het
Or52l1	A	T	7: 104,829,967 (GRCm39)	H199Q	probably damaging	Het
Or8g2b	A	G	9: 39,751,581 (GRCm39)	M284V	probably benign	Het
Osbpl9	A	T	4: 108,923,415 (GRCm39)	C495S	probably damaging	Het
Pamr1	A	G	2: 102,471,197 (GRCm39)	T507A	probably benign	Het
Pcdhb9	T	A	18: 37,536,380 (GRCm39)	C791*	probably null	Het
Pcgf6	T	C	19: 47,038,957 (GRCm39)	E101G	probably damaging	Het
Pdgfrl	A	T	8: 41,438,831 (GRCm39)	I256F	probably benign	Het
Pdzd7	T	C	19: 45,033,950 (GRCm39)	R45G	possibly damaging	Het
Pecr	C	T	1: 72,316,568 (GRCm39)	V46I	possibly damaging	Het
Pgr	A	G	9: 8,922,715 (GRCm39)		probably null	Het
Pik3c2a	A	T	7: 116,017,162 (GRCm39)	Y198*	probably null	Het
Pp2d1	T	A	17: 53,822,338 (GRCm39)	M243L	possibly damaging	Het
Ppp1r1a	T	A	15: 103,441,919 (GRCm39)	I50L	possibly damaging	Het
Proc	T	C	18: 32,260,459 (GRCm39)	D222G	probably benign	Het
Ptprq	T	A	10: 107,370,560 (GRCm39)	R2044*	probably null	Het
Ranbp2	T	C	10: 58,296,341 (GRCm39)	V326A	probably benign	Het
Reep6	T	A	10: 80,169,815 (GRCm39)	F122I	possibly damaging	Het
Rubcn	C	A	16: 32,663,471 (GRCm39)	R388S	probably damaging	Het
Rusc1	A	G	3: 88,996,600 (GRCm39)	L62P	probably damaging	Het
Satb2	T	C	1: 56,889,448 (GRCm39)	N423S	probably damaging	Het
Scart1	G	T	7: 139,800,522 (GRCm39)	C101F	probably damaging	Het
Serpinb9d	A	G	13: 33,384,731 (GRCm39)	K236R	probably benign	Het
Slc4a7	A	G	14: 14,765,709 (GRCm38)	R680G	probably benign	Het
Slitrk1	T	A	14: 109,150,528 (GRCm39)	Y61F	probably benign	Het
Son	A	G	16: 91,457,114 (GRCm39)		probably benign	Het
Sparc	T	A	11: 55,286,602 (GRCm39)		probably null	Het
Spon2	A	G	5: 33,373,729 (GRCm39)	F194S	probably damaging	Het
Spta1	A	G	1: 174,068,608 (GRCm39)	E2136G	probably damaging	Het
Stat4	T	C	1: 52,146,084 (GRCm39)	S746P	probably damaging	Het
Stk31	T	A	6: 49,446,238 (GRCm39)	S958R	probably benign	Het
Stom	T	A	2: 35,205,929 (GRCm39)	I267F	probably damaging	Het
Stx12	A	T	4: 132,585,788 (GRCm39)	D197E	probably damaging	Het
Taok3	A	T	5: 117,393,991 (GRCm39)	N588I	possibly damaging	Het
Tgs1	A	G	4: 3,598,658 (GRCm39)	D657G	probably damaging	Het
Trim6	A	G	7: 103,882,044 (GRCm39)	T432A	probably damaging	Het
Trim72	C	G	7: 127,603,757 (GRCm39)	C34W	probably damaging	Het
Trpc4ap	A	T	2: 155,499,664 (GRCm39)	I286N	probably benign	Het
Ttn	A	G	2: 76,693,905 (GRCm39)	V321A	possibly damaging	Het
Utp4	T	A	8: 107,645,352 (GRCm39)	I583N	probably damaging	Het
Wdfy2	G	T	14: 63,181,546 (GRCm39)	M225I	probably benign	Het
Wfdc1	A	G	8: 120,407,776 (GRCm39)	T134A	probably benign	Het
Wnt9b	A	G	11: 103,622,954 (GRCm39)	S150P	probably damaging	Het
Zbtb46	A	T	2: 181,053,477 (GRCm39)	F412I	probably damaging	Het
Zc3h15	G	A	2: 83,491,492 (GRCm39)	R240H	probably benign	Het
Zfp11	A	T	5: 129,733,737 (GRCm39)	Y575N	probably benign	Het
Zfp687	T	C	3: 94,919,200 (GRCm39)	M191V	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
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

Predicted Primers

PCR Primer
(F):5'- CCCACGACATTTTCTTCAGGACCAC -3'
(R):5'- TCCAGCAGGTATGGGATTAACCAGG -3'

Sequencing Primer
(F):5'- TGCCATTACATCTGGAGAGC -3'
(R):5'- TTAACCAGGAGAGGGTCTAGGTG -3'

Posted On

2014-05-14