Incidental Mutation 'R5964:Agl'
ID |
471930 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agl
|
Ensembl Gene |
ENSMUSG00000033400 |
Gene Name |
amylo-1,6-glucosidase, 4-alpha-glucanotransferase |
Synonyms |
9430004C13Rik, 9630046L06Rik, 1110061O17Rik |
MMRRC Submission |
044149-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.307)
|
Stock # |
R5964 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
116739999-116808166 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116793774 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 44
(V44A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159670]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
AlphaFold |
F8VPN4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040603
AA Change: V44A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044012 Gene: ENSMUSG00000033400 AA Change: V44A
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 |
possibly damaging
Transcript: ENSMUST00000159670
AA Change: V44A
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000124840 Gene: ENSMUSG00000033400 AA Change: V44A
Domain | Start | End | E-Value | Type |
Pfam:hGDE_N
|
30 |
117 |
7.9e-30 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159742
AA Change: V44A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143582 Gene: ENSMUSG00000033400 AA Change: V44A
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 |
probably damaging
Transcript: ENSMUST00000161336
AA Change: V44A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000123877 Gene: ENSMUSG00000033400 AA Change: V44A
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 |
noncoding transcript
Transcript: ENSMUST00000162040
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162792
AA Change: V44A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124149 Gene: ENSMUSG00000033400 AA Change: V44A
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 |
|
Meta Mutation Damage Score |
0.4309  |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.2%
|
Validation Efficiency |
96% (87/91) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam15 |
G |
A |
3: 89,343,567 |
Q581* |
probably null |
Het |
Alpk3 |
T |
A |
7: 81,092,260 |
D608E |
possibly damaging |
Het |
Aspm |
C |
A |
1: 139,455,227 |
|
probably benign |
Het |
Bbs2 |
T |
C |
8: 94,068,367 |
N692S |
probably benign |
Het |
Bend4 |
A |
G |
5: 67,417,818 |
I240T |
probably benign |
Het |
Casp8 |
G |
T |
1: 58,833,736 |
R277L |
possibly damaging |
Het |
Ccdc61 |
A |
T |
7: 18,900,940 |
I123N |
probably damaging |
Het |
Ccr9 |
T |
G |
9: 123,779,434 |
I60M |
probably benign |
Het |
Cd163 |
T |
A |
6: 124,326,572 |
W1066R |
probably benign |
Het |
Cd226 |
A |
T |
18: 89,207,183 |
H68L |
probably benign |
Het |
Cdkn3 |
T |
A |
14: 46,767,217 |
C79S |
probably null |
Het |
Cnnm1 |
A |
T |
19: 43,469,723 |
E658V |
probably benign |
Het |
Cog7 |
T |
C |
7: 121,956,029 |
R304G |
probably damaging |
Het |
Cpt1a |
T |
A |
19: 3,365,760 |
V286E |
possibly damaging |
Het |
Creg2 |
C |
A |
1: 39,624,954 |
R212L |
probably benign |
Het |
Cyp26a1 |
T |
G |
19: 37,699,962 |
S311A |
probably damaging |
Het |
Cyp2b10 |
T |
C |
7: 25,926,223 |
Y484H |
probably benign |
Het |
Cyp3a44 |
T |
A |
5: 145,788,467 |
Y308F |
possibly damaging |
Het |
Dlg5 |
A |
G |
14: 24,164,089 |
V744A |
probably benign |
Het |
Dlgap2 |
T |
A |
8: 14,727,128 |
Y124* |
probably null |
Het |
Dnah3 |
T |
C |
7: 119,922,880 |
D4030G |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,458,584 |
T4456A |
possibly damaging |
Het |
Dtx2 |
T |
A |
5: 136,023,699 |
V347D |
probably benign |
Het |
Gigyf2 |
C |
T |
1: 87,407,167 |
T294M |
probably damaging |
Het |
Gli3 |
C |
G |
13: 15,726,162 |
S1378* |
probably null |
Het |
Gm884 |
A |
G |
11: 103,542,120 |
S1232P |
possibly damaging |
Het |
Gnao1 |
G |
A |
8: 93,966,999 |
D337N |
probably benign |
Het |
Gp2 |
T |
A |
7: 119,449,129 |
Q422L |
probably benign |
Het |
Ifit1 |
T |
A |
19: 34,648,469 |
M335K |
possibly damaging |
Het |
Ism1 |
T |
C |
2: 139,678,757 |
S30P |
probably benign |
Het |
Itgax |
A |
G |
7: 128,140,447 |
D677G |
probably damaging |
Het |
Kansl1l |
G |
A |
1: 66,725,922 |
A442V |
probably damaging |
Het |
Kif13a |
T |
C |
13: 46,771,524 |
I311M |
probably damaging |
Het |
Lsm14b |
T |
A |
2: 180,031,425 |
S84R |
probably benign |
Het |
Lzts3 |
A |
G |
2: 130,636,288 |
Y297H |
probably damaging |
Het |
Map4k3 |
A |
G |
17: 80,644,762 |
I205T |
probably damaging |
Het |
Matn2 |
A |
T |
15: 34,410,165 |
N501I |
probably damaging |
Het |
Mctp2 |
T |
C |
7: 72,103,177 |
E776G |
probably damaging |
Het |
Mex3d |
A |
T |
10: 80,382,587 |
N265K |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,203,833 |
T1534A |
probably benign |
Het |
Ncoa7 |
T |
C |
10: 30,704,636 |
M35V |
probably damaging |
Het |
Nek4 |
G |
A |
14: 30,957,079 |
|
probably null |
Het |
Ngrn |
T |
C |
7: 80,261,933 |
|
probably null |
Het |
Nlrp1a |
T |
A |
11: 71,123,020 |
Q468L |
probably benign |
Het |
Olfr1450 |
A |
C |
19: 12,954,531 |
Q314P |
probably benign |
Het |
Olfr743 |
T |
A |
14: 50,534,198 |
M262K |
probably damaging |
Het |
Phtf2 |
T |
C |
5: 20,775,934 |
D433G |
probably damaging |
Het |
Prdm13 |
G |
A |
4: 21,683,852 |
Q140* |
probably null |
Het |
Prtg |
G |
A |
9: 72,892,254 |
G778E |
probably benign |
Het |
Pum3 |
T |
C |
19: 27,420,051 |
E308G |
probably damaging |
Het |
Pwp1 |
T |
G |
10: 85,882,886 |
F306V |
probably damaging |
Het |
Rab24 |
A |
T |
13: 55,321,576 |
Y27N |
probably damaging |
Het |
Rnf215 |
T |
C |
11: 4,135,898 |
F126L |
probably benign |
Het |
Samd13 |
A |
T |
3: 146,680,696 |
|
probably benign |
Het |
Serac1 |
T |
A |
17: 6,065,049 |
H213L |
probably benign |
Het |
Slc45a3 |
A |
G |
1: 131,978,073 |
E278G |
probably damaging |
Het |
Slit3 |
C |
T |
11: 35,700,236 |
R1292C |
probably damaging |
Het |
Slx4 |
A |
T |
16: 4,000,951 |
|
probably null |
Het |
Smarca4 |
C |
A |
9: 21,647,430 |
T631K |
probably benign |
Het |
Snx16 |
C |
T |
3: 10,434,481 |
R163Q |
possibly damaging |
Het |
Stk40 |
T |
C |
4: 126,128,895 |
V140A |
probably damaging |
Het |
Tcf12 |
A |
T |
9: 71,868,240 |
D409E |
probably damaging |
Het |
Tgfbr2 |
G |
T |
9: 116,110,255 |
T168K |
possibly damaging |
Het |
Ticam1 |
G |
T |
17: 56,271,703 |
H131N |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,829,888 |
R7458I |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,713,511 |
E31298* |
probably null |
Het |
Usp7 |
A |
G |
16: 8,712,102 |
V133A |
possibly damaging |
Het |
Wbp1l |
C |
T |
19: 46,654,180 |
R191* |
probably null |
Het |
Wdfy4 |
T |
C |
14: 33,106,011 |
E1118G |
probably damaging |
Het |
Zfp81 |
G |
C |
17: 33,336,845 |
P3A |
probably damaging |
Het |
Znhit6 |
A |
G |
3: 145,576,933 |
K21R |
possibly damaging |
Het |
|
Other mutations in Agl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00235:Agl
|
APN |
3 |
116,771,483 (GRCm38) |
missense |
probably benign |
0.10 |
IGL00500:Agl
|
APN |
3 |
116,772,820 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL00691:Agl
|
APN |
3 |
116,779,258 (GRCm38) |
missense |
possibly damaging |
0.46 |
IGL00711:Agl
|
APN |
3 |
116,793,627 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01291:Agl
|
APN |
3 |
116,772,789 (GRCm38) |
missense |
possibly damaging |
0.49 |
IGL01641:Agl
|
APN |
3 |
116,784,455 (GRCm38) |
nonsense |
probably null |
|
IGL01860:Agl
|
APN |
3 |
116,772,526 (GRCm38) |
splice site |
probably benign |
|
IGL01893:Agl
|
APN |
3 |
116,788,549 (GRCm38) |
missense |
probably damaging |
0.97 |
IGL02193:Agl
|
APN |
3 |
116,779,166 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL02379:Agl
|
APN |
3 |
116,779,091 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02485:Agl
|
APN |
3 |
116,779,080 (GRCm38) |
missense |
probably benign |
|
IGL02644:Agl
|
APN |
3 |
116,786,597 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02673:Agl
|
APN |
3 |
116,781,599 (GRCm38) |
missense |
probably benign |
0.01 |
IGL02693:Agl
|
APN |
3 |
116,746,428 (GRCm38) |
missense |
possibly damaging |
0.67 |
IGL02733:Agl
|
APN |
3 |
116,780,997 (GRCm38) |
missense |
probably benign |
|
IGL03089:Agl
|
APN |
3 |
116,781,023 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03271:Agl
|
APN |
3 |
116,779,127 (GRCm38) |
missense |
probably benign |
0.00 |
ANU05:Agl
|
UTSW |
3 |
116,772,789 (GRCm38) |
missense |
possibly damaging |
0.49 |
PIT4445001:Agl
|
UTSW |
3 |
116,771,460 (GRCm38) |
missense |
|
|
R0013:Agl
|
UTSW |
3 |
116,776,608 (GRCm38) |
nonsense |
probably null |
|
R0013:Agl
|
UTSW |
3 |
116,776,608 (GRCm38) |
nonsense |
probably null |
|
R0022:Agl
|
UTSW |
3 |
116,793,836 (GRCm38) |
splice site |
probably null |
|
R0092:Agl
|
UTSW |
3 |
116,793,804 (GRCm38) |
missense |
probably damaging |
1.00 |
R0226:Agl
|
UTSW |
3 |
116,752,071 (GRCm38) |
missense |
probably damaging |
1.00 |
R0440:Agl
|
UTSW |
3 |
116,758,806 (GRCm38) |
missense |
probably damaging |
1.00 |
R0488:Agl
|
UTSW |
3 |
116,754,962 (GRCm38) |
nonsense |
probably null |
|
R0504:Agl
|
UTSW |
3 |
116,786,784 (GRCm38) |
missense |
probably damaging |
0.99 |
R0689:Agl
|
UTSW |
3 |
116,793,628 (GRCm38) |
missense |
probably damaging |
1.00 |
R0715:Agl
|
UTSW |
3 |
116,752,176 (GRCm38) |
missense |
probably damaging |
1.00 |
R0893:Agl
|
UTSW |
3 |
116,753,286 (GRCm38) |
missense |
probably benign |
0.04 |
R1403:Agl
|
UTSW |
3 |
116,782,597 (GRCm38) |
missense |
probably benign |
0.12 |
R1403:Agl
|
UTSW |
3 |
116,782,597 (GRCm38) |
missense |
probably benign |
0.12 |
R1432:Agl
|
UTSW |
3 |
116,746,693 (GRCm38) |
missense |
probably damaging |
1.00 |
R1465:Agl
|
UTSW |
3 |
116,771,372 (GRCm38) |
missense |
probably benign |
0.35 |
R1465:Agl
|
UTSW |
3 |
116,771,372 (GRCm38) |
missense |
probably benign |
0.35 |
R1540:Agl
|
UTSW |
3 |
116,780,735 (GRCm38) |
missense |
probably benign |
0.01 |
R1624:Agl
|
UTSW |
3 |
116,787,246 (GRCm38) |
missense |
probably benign |
0.30 |
R1640:Agl
|
UTSW |
3 |
116,752,090 (GRCm38) |
missense |
probably benign |
0.02 |
R1834:Agl
|
UTSW |
3 |
116,788,351 (GRCm38) |
missense |
probably benign |
0.31 |
R1853:Agl
|
UTSW |
3 |
116,779,322 (GRCm38) |
nonsense |
probably null |
|
R2004:Agl
|
UTSW |
3 |
116,781,265 (GRCm38) |
missense |
probably damaging |
1.00 |
R2184:Agl
|
UTSW |
3 |
116,780,777 (GRCm38) |
missense |
probably benign |
0.00 |
R2227:Agl
|
UTSW |
3 |
116,788,312 (GRCm38) |
missense |
possibly damaging |
0.78 |
R3053:Agl
|
UTSW |
3 |
116,791,033 (GRCm38) |
missense |
probably damaging |
1.00 |
R4181:Agl
|
UTSW |
3 |
116,746,630 (GRCm38) |
missense |
probably damaging |
1.00 |
R4241:Agl
|
UTSW |
3 |
116,754,848 (GRCm38) |
intron |
probably benign |
|
R4284:Agl
|
UTSW |
3 |
116,752,178 (GRCm38) |
missense |
possibly damaging |
0.83 |
R4285:Agl
|
UTSW |
3 |
116,752,178 (GRCm38) |
missense |
possibly damaging |
0.83 |
R4302:Agl
|
UTSW |
3 |
116,746,630 (GRCm38) |
missense |
probably damaging |
1.00 |
R4791:Agl
|
UTSW |
3 |
116,786,528 (GRCm38) |
critical splice donor site |
probably null |
|
R4854:Agl
|
UTSW |
3 |
116,778,618 (GRCm38) |
critical splice donor site |
probably null |
|
R4968:Agl
|
UTSW |
3 |
116,788,526 (GRCm38) |
missense |
probably benign |
0.31 |
R5075:Agl
|
UTSW |
3 |
116,793,807 (GRCm38) |
missense |
probably damaging |
1.00 |
R5219:Agl
|
UTSW |
3 |
116,778,721 (GRCm38) |
missense |
possibly damaging |
0.81 |
R5274:Agl
|
UTSW |
3 |
116,772,486 (GRCm38) |
missense |
probably damaging |
1.00 |
R5347:Agl
|
UTSW |
3 |
116,791,165 (GRCm38) |
missense |
probably damaging |
1.00 |
R5399:Agl
|
UTSW |
3 |
116,781,628 (GRCm38) |
missense |
probably damaging |
1.00 |
R5511:Agl
|
UTSW |
3 |
116,788,560 (GRCm38) |
missense |
possibly damaging |
0.81 |
R5763:Agl
|
UTSW |
3 |
116,753,360 (GRCm38) |
missense |
probably damaging |
1.00 |
R5827:Agl
|
UTSW |
3 |
116,781,054 (GRCm38) |
missense |
probably damaging |
1.00 |
R5967:Agl
|
UTSW |
3 |
116,793,708 (GRCm38) |
missense |
probably benign |
0.06 |
R5986:Agl
|
UTSW |
3 |
116,772,496 (GRCm38) |
missense |
probably damaging |
1.00 |
R6127:Agl
|
UTSW |
3 |
116,758,329 (GRCm38) |
missense |
probably damaging |
1.00 |
R6209:Agl
|
UTSW |
3 |
116,785,196 (GRCm38) |
nonsense |
probably null |
|
R6252:Agl
|
UTSW |
3 |
116,787,229 (GRCm38) |
critical splice donor site |
probably null |
|
R6337:Agl
|
UTSW |
3 |
116,786,777 (GRCm38) |
missense |
possibly damaging |
0.65 |
R6366:Agl
|
UTSW |
3 |
116,791,117 (GRCm38) |
missense |
probably damaging |
1.00 |
R6441:Agl
|
UTSW |
3 |
116,771,459 (GRCm38) |
missense |
probably benign |
0.21 |
R6647:Agl
|
UTSW |
3 |
116,750,411 (GRCm38) |
missense |
probably damaging |
1.00 |
R6678:Agl
|
UTSW |
3 |
116,753,320 (GRCm38) |
missense |
probably damaging |
0.99 |
R6736:Agl
|
UTSW |
3 |
116,781,680 (GRCm38) |
missense |
probably damaging |
0.98 |
R7141:Agl
|
UTSW |
3 |
116,753,286 (GRCm38) |
missense |
probably benign |
0.04 |
R7143:Agl
|
UTSW |
3 |
116,792,021 (GRCm38) |
missense |
probably damaging |
0.99 |
R7204:Agl
|
UTSW |
3 |
116,793,820 (GRCm38) |
missense |
probably benign |
0.04 |
R7259:Agl
|
UTSW |
3 |
116,784,581 (GRCm38) |
missense |
probably damaging |
1.00 |
R7393:Agl
|
UTSW |
3 |
116,791,156 (GRCm38) |
missense |
probably benign |
|
R7426:Agl
|
UTSW |
3 |
116,758,755 (GRCm38) |
missense |
|
|
R7559:Agl
|
UTSW |
3 |
116,752,115 (GRCm38) |
missense |
|
|
R7587:Agl
|
UTSW |
3 |
116,792,087 (GRCm38) |
missense |
probably damaging |
1.00 |
R7609:Agl
|
UTSW |
3 |
116,807,279 (GRCm38) |
missense |
possibly damaging |
0.93 |
R7657:Agl
|
UTSW |
3 |
116,779,163 (GRCm38) |
missense |
|
|
R7715:Agl
|
UTSW |
3 |
116,758,256 (GRCm38) |
missense |
|
|
R7735:Agl
|
UTSW |
3 |
116,785,146 (GRCm38) |
missense |
probably benign |
0.21 |
R7770:Agl
|
UTSW |
3 |
116,758,237 (GRCm38) |
critical splice donor site |
probably null |
|
R7980:Agl
|
UTSW |
3 |
116,792,181 (GRCm38) |
missense |
probably benign |
0.08 |
R8186:Agl
|
UTSW |
3 |
116,758,908 (GRCm38) |
missense |
possibly damaging |
0.92 |
R8215:Agl
|
UTSW |
3 |
116,788,644 (GRCm38) |
missense |
probably damaging |
1.00 |
R8336:Agl
|
UTSW |
3 |
116,772,846 (GRCm38) |
missense |
|
|
R8709:Agl
|
UTSW |
3 |
116,772,472 (GRCm38) |
missense |
|
|
R9545:Agl
|
UTSW |
3 |
116,788,689 (GRCm38) |
missense |
possibly damaging |
0.96 |
X0065:Agl
|
UTSW |
3 |
116,781,330 (GRCm38) |
nonsense |
probably null |
|
Z1177:Agl
|
UTSW |
3 |
116,781,036 (GRCm38) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- TATGTTAACTGCAGCCTACCC -3'
(R):5'- CTAAATCGAAGTGCCAAGTAGTTCC -3'
Sequencing Primer
(F):5'- CCTACCCTTGAAGGAAGTAGTACTG -3'
(R):5'- TCGAAGTGCCAAGTAGTTCCAAAAG -3'
|
Posted On |
2017-03-31 |