Incidental Mutation 'R0715:Agl'
ID |
62807 |
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 |
038898-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.360)
|
Stock # |
R0715 (G1)
|
Quality Score |
97 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
116533648-116601815 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116545825 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 1324
(Y1324H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
AlphaFold |
F8VPN4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040603
AA Change: Y1324H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044012 Gene: ENSMUSG00000033400 AA Change: Y1324H
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
|
SMART Domains |
Protein: ENSMUSP00000143582 Gene: ENSMUSG00000033400
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: ENSMUST00000160484
AA Change: Y659H
|
SMART Domains |
Protein: ENSMUSP00000123985 Gene: ENSMUSG00000033400 AA Change: Y659H
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 damaging
Transcript: ENSMUST00000162792
AA Change: Y1324H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124149 Gene: ENSMUSG00000033400 AA Change: Y1324H
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 |
0.9331 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
Validation Efficiency |
98% (61/62) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930438A08Rik |
A |
G |
11: 58,179,176 (GRCm39) |
Y170C |
probably damaging |
Het |
Adcy2 |
C |
T |
13: 69,036,161 (GRCm39) |
V167I |
probably benign |
Het |
Arhgef37 |
G |
T |
18: 61,641,860 (GRCm39) |
Q170K |
probably damaging |
Het |
Asah2 |
A |
G |
19: 31,994,176 (GRCm39) |
S390P |
probably damaging |
Het |
Atp8a1 |
A |
T |
5: 67,932,068 (GRCm39) |
H240Q |
probably benign |
Het |
Btbd16 |
T |
A |
7: 130,390,557 (GRCm39) |
N151K |
probably damaging |
Het |
Ccdc73 |
T |
A |
2: 104,803,499 (GRCm39) |
|
probably benign |
Het |
Cecr2 |
G |
T |
6: 120,735,159 (GRCm39) |
M21I |
probably benign |
Het |
Ckap2l |
T |
C |
2: 129,127,636 (GRCm39) |
T181A |
probably benign |
Het |
Col4a3 |
T |
C |
1: 82,629,879 (GRCm39) |
|
probably benign |
Het |
Cplane1 |
T |
A |
15: 8,252,576 (GRCm39) |
C1933S |
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,972,074 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,611,706 (GRCm39) |
L516P |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 16,286,419 (GRCm39) |
T1035A |
probably benign |
Het |
Fzd8 |
A |
G |
18: 9,212,947 (GRCm39) |
T10A |
unknown |
Het |
Gm9631 |
C |
A |
11: 121,833,328 (GRCm39) |
C636F |
probably damaging |
Het |
Gp1ba |
A |
G |
11: 70,531,614 (GRCm39) |
|
probably benign |
Het |
Gsk3a |
A |
G |
7: 24,931,134 (GRCm39) |
V277A |
probably damaging |
Het |
H2-M1 |
T |
A |
17: 36,981,120 (GRCm39) |
|
probably benign |
Het |
Hesx1 |
T |
A |
14: 26,722,809 (GRCm39) |
W45R |
probably damaging |
Het |
Il23r |
T |
A |
6: 67,463,317 (GRCm39) |
M59L |
possibly damaging |
Het |
Insc |
T |
A |
7: 114,444,312 (GRCm39) |
V433E |
probably benign |
Het |
Itga8 |
T |
C |
2: 12,196,053 (GRCm39) |
|
probably benign |
Het |
Kif13a |
T |
A |
13: 46,966,299 (GRCm39) |
E436V |
probably damaging |
Het |
Liph |
A |
G |
16: 21,814,100 (GRCm39) |
F7S |
probably benign |
Het |
Lpar2 |
T |
C |
8: 70,276,823 (GRCm39) |
V204A |
probably damaging |
Het |
Lrfn4 |
T |
A |
19: 4,662,668 (GRCm39) |
|
probably null |
Het |
Man2b2 |
A |
T |
5: 36,983,402 (GRCm39) |
D182E |
probably benign |
Het |
Mmp27 |
T |
C |
9: 7,581,156 (GRCm39) |
|
probably benign |
Het |
Mrm1 |
A |
G |
11: 84,705,639 (GRCm39) |
|
probably benign |
Het |
Mtx3 |
T |
C |
13: 92,986,869 (GRCm39) |
S271P |
probably damaging |
Het |
Myh11 |
A |
T |
16: 14,044,480 (GRCm39) |
M641K |
possibly damaging |
Het |
Necab2 |
A |
G |
8: 120,197,670 (GRCm39) |
D332G |
probably damaging |
Het |
Ngfr |
A |
G |
11: 95,465,065 (GRCm39) |
I261T |
possibly damaging |
Het |
Nrap |
T |
C |
19: 56,345,757 (GRCm39) |
E617G |
probably damaging |
Het |
Obscn |
G |
T |
11: 58,941,306 (GRCm39) |
T4505K |
probably benign |
Het |
Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
Or8b57 |
A |
G |
9: 40,003,807 (GRCm39) |
Y148H |
probably damaging |
Het |
Osbpl11 |
T |
A |
16: 33,062,100 (GRCm39) |
|
probably benign |
Het |
Otof |
A |
G |
5: 30,552,041 (GRCm39) |
V301A |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,850,919 (GRCm39) |
L1145Q |
probably damaging |
Het |
Phospho2 |
T |
A |
2: 69,626,540 (GRCm39) |
I232N |
possibly damaging |
Het |
Pomgnt2 |
T |
A |
9: 121,811,127 (GRCm39) |
K551N |
probably damaging |
Het |
Ptchd3 |
A |
G |
11: 121,721,984 (GRCm39) |
T286A |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,331,976 (GRCm39) |
D2396G |
probably damaging |
Het |
Sh3pxd2b |
A |
G |
11: 32,373,341 (GRCm39) |
E836G |
possibly damaging |
Het |
Simc1 |
G |
T |
13: 54,673,468 (GRCm39) |
M605I |
possibly damaging |
Het |
Slc12a3 |
G |
A |
8: 95,056,061 (GRCm39) |
E66K |
possibly damaging |
Het |
Spg11 |
T |
C |
2: 121,915,464 (GRCm39) |
N1060S |
probably benign |
Het |
Supt5 |
A |
T |
7: 28,028,462 (GRCm39) |
W178R |
probably damaging |
Het |
Tmem41a |
G |
T |
16: 21,756,740 (GRCm39) |
F126L |
probably benign |
Het |
Ube2m |
T |
A |
7: 12,771,553 (GRCm39) |
Q35L |
probably benign |
Het |
Usp33 |
A |
G |
3: 152,086,211 (GRCm39) |
D658G |
probably damaging |
Het |
Vmn2r12 |
A |
T |
5: 109,238,373 (GRCm39) |
C456S |
probably benign |
Het |
Vmn2r81 |
T |
A |
10: 79,104,434 (GRCm39) |
D352E |
probably damaging |
Het |
Zfp516 |
A |
G |
18: 83,005,388 (GRCm39) |
Y764C |
probably damaging |
Het |
Zswim7 |
A |
G |
11: 62,167,473 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Agl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00235:Agl
|
APN |
3 |
116,565,132 (GRCm39) |
missense |
probably benign |
0.10 |
IGL00500:Agl
|
APN |
3 |
116,566,469 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00691:Agl
|
APN |
3 |
116,572,907 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL00711:Agl
|
APN |
3 |
116,587,276 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01291:Agl
|
APN |
3 |
116,566,438 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL01641:Agl
|
APN |
3 |
116,578,104 (GRCm39) |
nonsense |
probably null |
|
IGL01860:Agl
|
APN |
3 |
116,566,175 (GRCm39) |
splice site |
probably benign |
|
IGL01893:Agl
|
APN |
3 |
116,582,198 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02193:Agl
|
APN |
3 |
116,572,815 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02379:Agl
|
APN |
3 |
116,572,740 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02485:Agl
|
APN |
3 |
116,572,729 (GRCm39) |
missense |
probably benign |
|
IGL02644:Agl
|
APN |
3 |
116,580,246 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02673:Agl
|
APN |
3 |
116,575,248 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02693:Agl
|
APN |
3 |
116,540,077 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02733:Agl
|
APN |
3 |
116,574,646 (GRCm39) |
missense |
probably benign |
|
IGL03089:Agl
|
APN |
3 |
116,574,672 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03271:Agl
|
APN |
3 |
116,572,776 (GRCm39) |
missense |
probably benign |
0.00 |
ANU05:Agl
|
UTSW |
3 |
116,566,438 (GRCm39) |
missense |
possibly damaging |
0.49 |
PIT4445001:Agl
|
UTSW |
3 |
116,565,109 (GRCm39) |
missense |
|
|
R0013:Agl
|
UTSW |
3 |
116,570,257 (GRCm39) |
nonsense |
probably null |
|
R0013:Agl
|
UTSW |
3 |
116,570,257 (GRCm39) |
nonsense |
probably null |
|
R0022:Agl
|
UTSW |
3 |
116,587,485 (GRCm39) |
splice site |
probably null |
|
R0092:Agl
|
UTSW |
3 |
116,587,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R0226:Agl
|
UTSW |
3 |
116,545,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R0440:Agl
|
UTSW |
3 |
116,552,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R0488:Agl
|
UTSW |
3 |
116,548,611 (GRCm39) |
nonsense |
probably null |
|
R0504:Agl
|
UTSW |
3 |
116,580,433 (GRCm39) |
missense |
probably damaging |
0.99 |
R0689:Agl
|
UTSW |
3 |
116,587,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R0893:Agl
|
UTSW |
3 |
116,546,935 (GRCm39) |
missense |
probably benign |
0.04 |
R1403:Agl
|
UTSW |
3 |
116,576,246 (GRCm39) |
missense |
probably benign |
0.12 |
R1403:Agl
|
UTSW |
3 |
116,576,246 (GRCm39) |
missense |
probably benign |
0.12 |
R1432:Agl
|
UTSW |
3 |
116,540,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R1465:Agl
|
UTSW |
3 |
116,565,021 (GRCm39) |
missense |
probably benign |
0.35 |
R1465:Agl
|
UTSW |
3 |
116,565,021 (GRCm39) |
missense |
probably benign |
0.35 |
R1540:Agl
|
UTSW |
3 |
116,574,384 (GRCm39) |
missense |
probably benign |
0.01 |
R1624:Agl
|
UTSW |
3 |
116,580,895 (GRCm39) |
missense |
probably benign |
0.30 |
R1640:Agl
|
UTSW |
3 |
116,545,739 (GRCm39) |
missense |
probably benign |
0.02 |
R1834:Agl
|
UTSW |
3 |
116,582,000 (GRCm39) |
missense |
probably benign |
0.31 |
R1853:Agl
|
UTSW |
3 |
116,572,971 (GRCm39) |
nonsense |
probably null |
|
R2004:Agl
|
UTSW |
3 |
116,574,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R2184:Agl
|
UTSW |
3 |
116,574,426 (GRCm39) |
missense |
probably benign |
0.00 |
R2227:Agl
|
UTSW |
3 |
116,581,961 (GRCm39) |
missense |
possibly damaging |
0.78 |
R3053:Agl
|
UTSW |
3 |
116,584,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R4181:Agl
|
UTSW |
3 |
116,540,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R4241:Agl
|
UTSW |
3 |
116,548,497 (GRCm39) |
intron |
probably benign |
|
R4284:Agl
|
UTSW |
3 |
116,545,827 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4285:Agl
|
UTSW |
3 |
116,545,827 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4302:Agl
|
UTSW |
3 |
116,540,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R4791:Agl
|
UTSW |
3 |
116,580,177 (GRCm39) |
critical splice donor site |
probably null |
|
R4854:Agl
|
UTSW |
3 |
116,572,267 (GRCm39) |
critical splice donor site |
probably null |
|
R4968:Agl
|
UTSW |
3 |
116,582,175 (GRCm39) |
missense |
probably benign |
0.31 |
R5075:Agl
|
UTSW |
3 |
116,587,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R5219:Agl
|
UTSW |
3 |
116,572,370 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5274:Agl
|
UTSW |
3 |
116,566,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R5347:Agl
|
UTSW |
3 |
116,584,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R5399:Agl
|
UTSW |
3 |
116,575,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R5511:Agl
|
UTSW |
3 |
116,582,209 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5763:Agl
|
UTSW |
3 |
116,547,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R5827:Agl
|
UTSW |
3 |
116,574,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R5964:Agl
|
UTSW |
3 |
116,587,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R5967:Agl
|
UTSW |
3 |
116,587,357 (GRCm39) |
missense |
probably benign |
0.06 |
R5986:Agl
|
UTSW |
3 |
116,566,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R6127:Agl
|
UTSW |
3 |
116,551,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R6209:Agl
|
UTSW |
3 |
116,578,845 (GRCm39) |
nonsense |
probably null |
|
R6252:Agl
|
UTSW |
3 |
116,580,878 (GRCm39) |
critical splice donor site |
probably null |
|
R6337:Agl
|
UTSW |
3 |
116,580,426 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6366:Agl
|
UTSW |
3 |
116,584,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R6441:Agl
|
UTSW |
3 |
116,565,108 (GRCm39) |
missense |
probably benign |
0.21 |
R6647:Agl
|
UTSW |
3 |
116,544,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R6678:Agl
|
UTSW |
3 |
116,546,969 (GRCm39) |
missense |
probably damaging |
0.99 |
R6736:Agl
|
UTSW |
3 |
116,575,329 (GRCm39) |
missense |
probably damaging |
0.98 |
R7141:Agl
|
UTSW |
3 |
116,546,935 (GRCm39) |
missense |
probably benign |
0.04 |
R7143:Agl
|
UTSW |
3 |
116,585,670 (GRCm39) |
missense |
probably damaging |
0.99 |
R7204:Agl
|
UTSW |
3 |
116,587,469 (GRCm39) |
missense |
probably benign |
0.04 |
R7259:Agl
|
UTSW |
3 |
116,578,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R7393:Agl
|
UTSW |
3 |
116,584,805 (GRCm39) |
missense |
probably benign |
|
R7426:Agl
|
UTSW |
3 |
116,552,404 (GRCm39) |
missense |
|
|
R7559:Agl
|
UTSW |
3 |
116,545,764 (GRCm39) |
missense |
|
|
R7587:Agl
|
UTSW |
3 |
116,585,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R7609:Agl
|
UTSW |
3 |
116,600,928 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7657:Agl
|
UTSW |
3 |
116,572,812 (GRCm39) |
missense |
|
|
R7715:Agl
|
UTSW |
3 |
116,551,905 (GRCm39) |
missense |
|
|
R7735:Agl
|
UTSW |
3 |
116,578,795 (GRCm39) |
missense |
probably benign |
0.21 |
R7770:Agl
|
UTSW |
3 |
116,551,886 (GRCm39) |
critical splice donor site |
probably null |
|
R7980:Agl
|
UTSW |
3 |
116,585,830 (GRCm39) |
missense |
probably benign |
0.08 |
R8186:Agl
|
UTSW |
3 |
116,552,557 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8215:Agl
|
UTSW |
3 |
116,582,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R8336:Agl
|
UTSW |
3 |
116,566,495 (GRCm39) |
missense |
|
|
R8709:Agl
|
UTSW |
3 |
116,566,121 (GRCm39) |
missense |
|
|
R9545:Agl
|
UTSW |
3 |
116,582,338 (GRCm39) |
missense |
possibly damaging |
0.96 |
X0065:Agl
|
UTSW |
3 |
116,574,979 (GRCm39) |
nonsense |
probably null |
|
Z1177:Agl
|
UTSW |
3 |
116,574,685 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGCCCTTAGTAGAGTTACCATGACATT -3'
(R):5'- GCATATCTCCATCTAAAGCAGCCACATT -3'
Sequencing Primer
(F):5'- TGTGAAGGCACTATATCACTCACC -3'
(R):5'- GCAGCCACATTTTCTAAAACATAG -3'
|
Posted On |
2013-07-30 |