Incidental Mutation 'R1146:Gaa'
| ID |
262437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gaa
|
| Ensembl Gene |
ENSMUSG00000025579 |
| Gene Name |
glucosidase, alpha, acid |
| Synonyms |
E430018M07Rik |
| MMRRC Submission |
039219-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.722)
|
| Stock # |
R1146 (G1)
|
| Quality Score |
113 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
119158789-119176284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 119165730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 81
(R81L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026666]
[ENSMUST00000106258]
[ENSMUST00000106259]
[ENSMUST00000132706]
|
| AlphaFold |
P70699 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026666
AA Change: R375L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026666
Gene: ENSMUSG00000025579
AA Change: R375L
| 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 damaging
Transcript: ENSMUST00000106259
AA Change: R375L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101866
Gene: ENSMUSG00000025579
AA Change: R375L
| 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 damaging
Transcript: ENSMUST00000132706
AA Change: R81L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119702
Gene: ENSMUSG00000025579
AA Change: R81L
| 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 |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000150562
AA Change: R16L
|
| SMART Domains |
Protein: ENSMUSP00000115128
Gene: ENSMUSG00000025579
AA Change: R16L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_31
|
1 |
96 |
4.3e-28 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 97.6%
- 10x: 85.8%
- 20x: 55.8%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,679,795 (GRCm39) |
V1848E |
probably damaging |
Het |
| Alpk3 |
A |
G |
7: 80,727,343 (GRCm39) |
K158E |
probably damaging |
Het |
| Arrdc4 |
T |
A |
7: 68,389,756 (GRCm39) |
E356D |
probably damaging |
Het |
| Asb4 |
A |
G |
6: 5,423,591 (GRCm39) |
N246S |
probably damaging |
Het |
| Ctsj |
G |
A |
13: 61,150,312 (GRCm39) |
P230L |
probably benign |
Het |
| Eme1 |
A |
G |
11: 94,536,277 (GRCm39) |
L564P |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fzd2 |
A |
T |
11: 102,496,206 (GRCm39) |
S217C |
possibly damaging |
Het |
| Gfral |
A |
G |
9: 76,074,341 (GRCm39) |
V368A |
probably benign |
Het |
| Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
| Gucy1a2 |
T |
A |
9: 3,759,830 (GRCm39) |
N545K |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,796,444 (GRCm39) |
S1939P |
probably benign |
Het |
| Ifnk |
T |
C |
4: 35,152,231 (GRCm39) |
I53T |
probably benign |
Het |
| Iqub |
G |
A |
6: 24,505,627 (GRCm39) |
L94F |
possibly damaging |
Het |
| Kpna1 |
C |
T |
16: 35,853,749 (GRCm39) |
R460* |
probably null |
Het |
| Masp1 |
T |
C |
16: 23,310,865 (GRCm39) |
E189G |
probably damaging |
Het |
| Mogat1 |
A |
G |
1: 78,500,250 (GRCm39) |
I105V |
probably benign |
Het |
| Msh2 |
C |
A |
17: 87,987,488 (GRCm39) |
D209E |
probably benign |
Het |
| Nsf |
G |
A |
11: 103,719,364 (GRCm39) |
T646I |
probably damaging |
Het |
| Or10g9b |
A |
T |
9: 39,917,390 (GRCm39) |
V285D |
possibly damaging |
Het |
| Or4c10b |
C |
T |
2: 89,711,550 (GRCm39) |
P127S |
probably damaging |
Het |
| Or5b24 |
T |
A |
19: 12,912,329 (GRCm39) |
S76T |
possibly damaging |
Het |
| Or6b2 |
G |
A |
1: 92,407,612 (GRCm39) |
H244Y |
probably damaging |
Het |
| Otogl |
T |
A |
10: 107,722,374 (GRCm39) |
I327F |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,682,552 (GRCm39) |
D832G |
probably damaging |
Het |
| Pfkfb4 |
A |
G |
9: 108,836,794 (GRCm39) |
E163G |
probably benign |
Het |
| Phc1 |
T |
C |
6: 122,300,416 (GRCm39) |
|
probably benign |
Het |
| Piwil1 |
T |
C |
5: 128,824,957 (GRCm39) |
S552P |
probably benign |
Het |
| Ppfia3 |
A |
C |
7: 45,001,639 (GRCm39) |
D424E |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbsn |
A |
G |
6: 92,178,711 (GRCm39) |
|
probably null |
Het |
| Rexo1 |
C |
T |
10: 80,380,239 (GRCm39) |
S919N |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,510,032 (GRCm39) |
N1152D |
probably damaging |
Het |
| Sel1l3 |
A |
T |
5: 53,274,445 (GRCm39) |
F1012I |
possibly damaging |
Het |
| Sema4c |
A |
G |
1: 36,589,646 (GRCm39) |
V539A |
probably benign |
Het |
| Sf3b5 |
A |
G |
10: 12,884,575 (GRCm39) |
E70G |
possibly damaging |
Het |
| Tmcc2 |
TTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGC |
1: 132,285,493 (GRCm39) |
|
probably benign |
Het |
| Tor1aip2 |
T |
C |
1: 155,940,483 (GRCm39) |
V263A |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,813,733 (GRCm39) |
E380G |
probably damaging |
Het |
| Usp16 |
C |
T |
16: 87,271,536 (GRCm39) |
T364M |
possibly damaging |
Het |
| Usp50 |
T |
C |
2: 126,551,392 (GRCm39) |
Y29C |
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Wwox |
T |
C |
8: 115,438,776 (GRCm39) |
S281P |
probably damaging |
Het |
| Zfp110 |
A |
G |
7: 12,580,721 (GRCm39) |
|
probably null |
Het |
| Zfp335 |
G |
A |
2: 164,738,043 (GRCm39) |
A856V |
probably benign |
Het |
| Zfp652 |
G |
A |
11: 95,640,608 (GRCm39) |
E178K |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2015-02-04 |
Incidental Mutation