Incidental Mutation 'IGL02733:Agl'
ID |
305562 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Agl
|
Ensembl Gene |
ENSMUSG00000033400 |
Gene Name |
amylo-1,6-glucosidase, 4-alpha-glucanotransferase |
Synonyms |
9430004C13Rik, 9630046L06Rik, 1110061O17Rik |
Accession Numbers |
|
Is this an essential gene? |
Possibly non essential
(E-score: 0.260)
|
Stock # |
IGL02733
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
116739999-116808166 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116780997 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 718
(I718V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
AlphaFold |
F8VPN4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040603
AA Change: I718V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000044012 Gene: ENSMUSG00000033400 AA Change: I718V
Domain | Start | End | E-Value | Type |
Pfam:hGDE_N
|
31 |
116 |
4.8e-24 |
PFAM |
Pfam:hDGE_amylase
|
120 |
550 |
9.6e-167 |
PFAM |
Pfam:hGDE_central
|
697 |
974 |
2e-90 |
PFAM |
Pfam:GDE_C
|
1044 |
1527 |
8.5e-145 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159742
AA Change: I718V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000143582 Gene: ENSMUSG00000033400 AA Change: I718V
Domain | Start | End | E-Value | Type |
Pfam:hGDE_N
|
31 |
116 |
2.1e-20 |
PFAM |
Pfam:hDGE_amylase
|
120 |
550 |
7.8e-164 |
PFAM |
Pfam:hGDE_central
|
697 |
974 |
6.2e-87 |
PFAM |
Pfam:GDE_C
|
1043 |
1279 |
6.7e-61 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000159995
AA Change: I139V
|
SMART Domains |
Protein: ENSMUSP00000125246 Gene: ENSMUSG00000033400 AA Change: I139V
Domain | Start | End | E-Value | Type |
Pfam:hGDE_central
|
119 |
197 |
8.8e-25 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000160484
AA Change: I53V
|
SMART Domains |
Protein: ENSMUSP00000123985 Gene: ENSMUSG00000033400 AA Change: I53V
Domain | Start | End | E-Value | Type |
Pfam:hGDE_central
|
33 |
310 |
2.8e-87 |
PFAM |
Pfam:GDE_C
|
379 |
830 |
1.3e-126 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161336
|
SMART Domains |
Protein: ENSMUSP00000123877 Gene: ENSMUSG00000033400
Domain | Start | End | E-Value | Type |
Pfam:hGDE_N
|
30 |
117 |
2.1e-29 |
PFAM |
Pfam:hDGE_amylase
|
120 |
230 |
3.7e-43 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162792
AA Change: I718V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124149 Gene: ENSMUSG00000033400 AA Change: I718V
Domain | Start | End | E-Value | Type |
Pfam:hGDE_N
|
30 |
117 |
4e-28 |
PFAM |
Pfam:hDGE_amylase
|
120 |
550 |
1.4e-167 |
PFAM |
Pfam:hGDE_central
|
697 |
975 |
5.6e-95 |
PFAM |
Pfam:GDE_C
|
1061 |
1527 |
1.1e-137 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous inactivation of this gene leads to hypoglycemia, altered blood biochemistry, severe hepatomegaly, glycogen accumulation in the liver, heart, skeletal muscle and other tissues, motor impairment, and premature death. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acnat1 |
T |
A |
4: 49,447,793 |
T245S |
probably benign |
Het |
Cbs |
T |
A |
17: 31,625,031 |
N209Y |
probably benign |
Het |
Cd163 |
T |
C |
6: 124,325,341 |
C955R |
probably damaging |
Het |
Dnajb3 |
A |
G |
1: 88,204,940 |
|
probably benign |
Het |
Dopey2 |
G |
A |
16: 93,739,191 |
R59Q |
possibly damaging |
Het |
Dtx1 |
A |
G |
5: 120,681,435 |
L566P |
probably damaging |
Het |
Fam198a |
A |
G |
9: 121,965,028 |
R83G |
probably benign |
Het |
Fgf14 |
G |
T |
14: 123,983,801 |
P197Q |
probably damaging |
Het |
Gcc1 |
G |
A |
6: 28,420,662 |
Q66* |
probably null |
Het |
Gypc |
T |
C |
18: 32,559,826 |
|
probably benign |
Het |
Helz2 |
G |
A |
2: 181,235,026 |
A1225V |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,450,992 |
T2452A |
probably benign |
Het |
Hoxc4 |
A |
G |
15: 103,034,726 |
I2V |
probably benign |
Het |
Impa1 |
A |
G |
3: 10,328,965 |
I14T |
probably benign |
Het |
Itih1 |
T |
A |
14: 30,936,720 |
D400V |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,578,127 |
Y3206H |
probably damaging |
Het |
Lce1k |
T |
A |
3: 92,806,885 |
|
probably benign |
Het |
Mcpt4 |
C |
T |
14: 56,060,667 |
M142I |
probably benign |
Het |
Myo15b |
A |
G |
11: 115,884,250 |
E2168G |
probably benign |
Het |
Myom3 |
G |
T |
4: 135,814,303 |
E1402* |
probably null |
Het |
Nfyb |
G |
T |
10: 82,755,033 |
Q55K |
probably damaging |
Het |
Nobox |
T |
C |
6: 43,307,202 |
K137E |
possibly damaging |
Het |
Pnlip |
T |
A |
19: 58,680,788 |
D406E |
probably benign |
Het |
Pole |
A |
T |
5: 110,312,728 |
|
probably benign |
Het |
Ppp2r2b |
T |
C |
18: 42,648,728 |
Y336C |
possibly damaging |
Het |
Prkg1 |
T |
C |
19: 31,302,301 |
T178A |
probably damaging |
Het |
Prr11 |
C |
T |
11: 87,103,545 |
A92T |
possibly damaging |
Het |
Racgap1 |
G |
T |
15: 99,639,704 |
S67R |
probably damaging |
Het |
Scn10a |
G |
A |
9: 119,616,705 |
P1462S |
probably damaging |
Het |
Sptbn1 |
T |
C |
11: 30,197,747 |
E29G |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,325,104 |
P658L |
unknown |
Het |
Vmn2r72 |
T |
A |
7: 85,751,813 |
T133S |
probably benign |
Het |
Zbtb20 |
A |
G |
16: 43,609,933 |
H269R |
possibly damaging |
Het |
Zwilch |
A |
T |
9: 64,146,836 |
N526K |
probably benign |
Het |
|
Other mutations in Agl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00235:Agl
|
APN |
3 |
116771483 |
missense |
probably benign |
0.10 |
IGL00500:Agl
|
APN |
3 |
116772820 |
missense |
probably damaging |
1.00 |
IGL00691:Agl
|
APN |
3 |
116779258 |
missense |
possibly damaging |
0.46 |
IGL00711:Agl
|
APN |
3 |
116793627 |
missense |
probably damaging |
1.00 |
IGL01291:Agl
|
APN |
3 |
116772789 |
missense |
possibly damaging |
0.49 |
IGL01641:Agl
|
APN |
3 |
116784455 |
nonsense |
probably null |
|
IGL01860:Agl
|
APN |
3 |
116772526 |
splice site |
probably benign |
|
IGL01893:Agl
|
APN |
3 |
116788549 |
missense |
probably damaging |
0.97 |
IGL02193:Agl
|
APN |
3 |
116779166 |
missense |
probably damaging |
0.99 |
IGL02379:Agl
|
APN |
3 |
116779091 |
missense |
probably damaging |
1.00 |
IGL02485:Agl
|
APN |
3 |
116779080 |
missense |
probably benign |
|
IGL02644:Agl
|
APN |
3 |
116786597 |
missense |
probably damaging |
1.00 |
IGL02673:Agl
|
APN |
3 |
116781599 |
missense |
probably benign |
0.01 |
IGL02693:Agl
|
APN |
3 |
116746428 |
missense |
possibly damaging |
0.67 |
IGL03089:Agl
|
APN |
3 |
116781023 |
missense |
probably damaging |
1.00 |
IGL03271:Agl
|
APN |
3 |
116779127 |
missense |
probably benign |
0.00 |
ANU05:Agl
|
UTSW |
3 |
116772789 |
missense |
possibly damaging |
0.49 |
PIT4445001:Agl
|
UTSW |
3 |
116771460 |
missense |
|
|
R0013:Agl
|
UTSW |
3 |
116776608 |
nonsense |
probably null |
|
R0013:Agl
|
UTSW |
3 |
116776608 |
nonsense |
probably null |
|
R0022:Agl
|
UTSW |
3 |
116793836 |
splice site |
probably null |
|
R0092:Agl
|
UTSW |
3 |
116793804 |
missense |
probably damaging |
1.00 |
R0226:Agl
|
UTSW |
3 |
116752071 |
missense |
probably damaging |
1.00 |
R0440:Agl
|
UTSW |
3 |
116758806 |
missense |
probably damaging |
1.00 |
R0488:Agl
|
UTSW |
3 |
116754962 |
nonsense |
probably null |
|
R0504:Agl
|
UTSW |
3 |
116786784 |
missense |
probably damaging |
0.99 |
R0689:Agl
|
UTSW |
3 |
116793628 |
missense |
probably damaging |
1.00 |
R0715:Agl
|
UTSW |
3 |
116752176 |
missense |
probably damaging |
1.00 |
R0893:Agl
|
UTSW |
3 |
116753286 |
missense |
probably benign |
0.04 |
R1403:Agl
|
UTSW |
3 |
116782597 |
missense |
probably benign |
0.12 |
R1403:Agl
|
UTSW |
3 |
116782597 |
missense |
probably benign |
0.12 |
R1432:Agl
|
UTSW |
3 |
116746693 |
missense |
probably damaging |
1.00 |
R1465:Agl
|
UTSW |
3 |
116771372 |
missense |
probably benign |
0.35 |
R1465:Agl
|
UTSW |
3 |
116771372 |
missense |
probably benign |
0.35 |
R1540:Agl
|
UTSW |
3 |
116780735 |
missense |
probably benign |
0.01 |
R1624:Agl
|
UTSW |
3 |
116787246 |
missense |
probably benign |
0.30 |
R1640:Agl
|
UTSW |
3 |
116752090 |
missense |
probably benign |
0.02 |
R1834:Agl
|
UTSW |
3 |
116788351 |
missense |
probably benign |
0.31 |
R1853:Agl
|
UTSW |
3 |
116779322 |
nonsense |
probably null |
|
R2004:Agl
|
UTSW |
3 |
116781265 |
missense |
probably damaging |
1.00 |
R2184:Agl
|
UTSW |
3 |
116780777 |
missense |
probably benign |
0.00 |
R2227:Agl
|
UTSW |
3 |
116788312 |
missense |
possibly damaging |
0.78 |
R3053:Agl
|
UTSW |
3 |
116791033 |
missense |
probably damaging |
1.00 |
R4181:Agl
|
UTSW |
3 |
116746630 |
missense |
probably damaging |
1.00 |
R4241:Agl
|
UTSW |
3 |
116754848 |
intron |
probably benign |
|
R4284:Agl
|
UTSW |
3 |
116752178 |
missense |
possibly damaging |
0.83 |
R4285:Agl
|
UTSW |
3 |
116752178 |
missense |
possibly damaging |
0.83 |
R4302:Agl
|
UTSW |
3 |
116746630 |
missense |
probably damaging |
1.00 |
R4791:Agl
|
UTSW |
3 |
116786528 |
critical splice donor site |
probably null |
|
R4854:Agl
|
UTSW |
3 |
116778618 |
critical splice donor site |
probably null |
|
R4968:Agl
|
UTSW |
3 |
116788526 |
missense |
probably benign |
0.31 |
R5075:Agl
|
UTSW |
3 |
116793807 |
missense |
probably damaging |
1.00 |
R5219:Agl
|
UTSW |
3 |
116778721 |
missense |
possibly damaging |
0.81 |
R5274:Agl
|
UTSW |
3 |
116772486 |
missense |
probably damaging |
1.00 |
R5347:Agl
|
UTSW |
3 |
116791165 |
missense |
probably damaging |
1.00 |
R5399:Agl
|
UTSW |
3 |
116781628 |
missense |
probably damaging |
1.00 |
R5511:Agl
|
UTSW |
3 |
116788560 |
missense |
possibly damaging |
0.81 |
R5763:Agl
|
UTSW |
3 |
116753360 |
missense |
probably damaging |
1.00 |
R5827:Agl
|
UTSW |
3 |
116781054 |
missense |
probably damaging |
1.00 |
R5964:Agl
|
UTSW |
3 |
116793774 |
missense |
probably damaging |
1.00 |
R5967:Agl
|
UTSW |
3 |
116793708 |
missense |
probably benign |
0.06 |
R5986:Agl
|
UTSW |
3 |
116772496 |
missense |
probably damaging |
1.00 |
R6127:Agl
|
UTSW |
3 |
116758329 |
missense |
probably damaging |
1.00 |
R6209:Agl
|
UTSW |
3 |
116785196 |
nonsense |
probably null |
|
R6252:Agl
|
UTSW |
3 |
116787229 |
critical splice donor site |
probably null |
|
R6337:Agl
|
UTSW |
3 |
116786777 |
missense |
possibly damaging |
0.65 |
R6366:Agl
|
UTSW |
3 |
116791117 |
missense |
probably damaging |
1.00 |
R6441:Agl
|
UTSW |
3 |
116771459 |
missense |
probably benign |
0.21 |
R6647:Agl
|
UTSW |
3 |
116750411 |
missense |
probably damaging |
1.00 |
R6678:Agl
|
UTSW |
3 |
116753320 |
missense |
probably damaging |
0.99 |
R6736:Agl
|
UTSW |
3 |
116781680 |
missense |
probably damaging |
0.98 |
R7141:Agl
|
UTSW |
3 |
116753286 |
missense |
probably benign |
0.04 |
R7143:Agl
|
UTSW |
3 |
116792021 |
missense |
probably damaging |
0.99 |
R7204:Agl
|
UTSW |
3 |
116793820 |
missense |
probably benign |
0.04 |
R7259:Agl
|
UTSW |
3 |
116784581 |
missense |
probably damaging |
1.00 |
R7393:Agl
|
UTSW |
3 |
116791156 |
missense |
probably benign |
|
R7426:Agl
|
UTSW |
3 |
116758755 |
missense |
|
|
R7559:Agl
|
UTSW |
3 |
116752115 |
missense |
|
|
R7587:Agl
|
UTSW |
3 |
116792087 |
missense |
probably damaging |
1.00 |
R7609:Agl
|
UTSW |
3 |
116807279 |
missense |
possibly damaging |
0.93 |
R7657:Agl
|
UTSW |
3 |
116779163 |
missense |
|
|
R7715:Agl
|
UTSW |
3 |
116758256 |
missense |
|
|
R7735:Agl
|
UTSW |
3 |
116785146 |
missense |
probably benign |
0.21 |
R7770:Agl
|
UTSW |
3 |
116758237 |
critical splice donor site |
probably null |
|
R7980:Agl
|
UTSW |
3 |
116792181 |
missense |
probably benign |
0.08 |
R8186:Agl
|
UTSW |
3 |
116758908 |
missense |
possibly damaging |
0.92 |
R8215:Agl
|
UTSW |
3 |
116788644 |
missense |
probably damaging |
1.00 |
R8336:Agl
|
UTSW |
3 |
116772846 |
missense |
|
|
R8709:Agl
|
UTSW |
3 |
116772472 |
missense |
|
|
X0065:Agl
|
UTSW |
3 |
116781330 |
nonsense |
probably null |
|
Z1177:Agl
|
UTSW |
3 |
116781036 |
missense |
|
|
|
Posted On |
2015-04-16 |