Incidental Mutation 'R5986:Agl'
| ID |
481635 |
| 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 |
044166-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.360)
|
| Stock # |
R5986 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
116533648-116601815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116566145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 992
(F992I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
| AlphaFold |
F8VPN4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040603
AA Change: F992I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: F992I
| 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 damaging
Transcript: ENSMUST00000159742
AA Change: F992I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: F992I
| 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: F327I
|
| SMART Domains |
Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400
AA Change: F327I
| 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: F992I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: F992I
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ampd1 |
T |
C |
3: 102,992,713 (GRCm39) |
F152L |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,806,335 (GRCm39) |
H602R |
possibly damaging |
Het |
| Ankib1 |
T |
C |
5: 3,797,071 (GRCm39) |
D247G |
probably damaging |
Het |
| Bccip |
T |
A |
7: 133,322,594 (GRCm39) |
H313Q |
probably benign |
Het |
| Ccdc198 |
A |
T |
14: 49,470,403 (GRCm39) |
L172H |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,821,197 (GRCm39) |
E929G |
probably damaging |
Het |
| Chl1 |
C |
A |
6: 103,686,152 (GRCm39) |
L954I |
probably benign |
Het |
| Cog5 |
A |
T |
12: 31,710,716 (GRCm39) |
D32V |
probably benign |
Het |
| Cyp4f16 |
C |
A |
17: 32,763,116 (GRCm39) |
A187E |
probably benign |
Het |
| Dffb |
A |
T |
4: 154,050,050 (GRCm39) |
V271E |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,070,604 (GRCm39) |
Y4430C |
possibly damaging |
Het |
| Dpp3 |
T |
C |
19: 4,968,385 (GRCm39) |
E229G |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,909,613 (GRCm39) |
N2130Y |
probably benign |
Het |
| Kcnk3 |
T |
C |
5: 30,745,722 (GRCm39) |
V21A |
possibly damaging |
Het |
| Kif9 |
G |
A |
9: 110,319,094 (GRCm39) |
S186N |
probably benign |
Het |
| Lhfpl3 |
C |
A |
5: 22,951,424 (GRCm39) |
N78K |
probably benign |
Het |
| Ly6c1 |
A |
G |
15: 74,917,457 (GRCm39) |
S64P |
probably damaging |
Het |
| Mapk10 |
T |
C |
5: 103,186,446 (GRCm39) |
T59A |
probably benign |
Het |
| Mars1 |
A |
T |
10: 127,140,171 (GRCm39) |
C394* |
probably null |
Het |
| Mettl16 |
T |
A |
11: 74,683,063 (GRCm39) |
D168E |
possibly damaging |
Het |
| Mgat2 |
A |
T |
12: 69,232,158 (GRCm39) |
Q244L |
probably benign |
Het |
| Mrps30 |
A |
G |
13: 118,521,101 (GRCm39) |
|
probably null |
Het |
| Myrip |
C |
A |
9: 120,290,487 (GRCm39) |
A702E |
probably damaging |
Het |
| Nepn |
T |
C |
10: 52,280,168 (GRCm39) |
L420P |
probably damaging |
Het |
| Nrn1 |
A |
T |
13: 36,918,238 (GRCm39) |
Y9* |
probably null |
Het |
| Nup107 |
T |
C |
10: 117,595,081 (GRCm39) |
Y752C |
probably damaging |
Het |
| Nutm2 |
A |
T |
13: 50,628,496 (GRCm39) |
D520V |
probably damaging |
Het |
| Olfm2 |
C |
T |
9: 20,586,946 (GRCm39) |
C48Y |
probably damaging |
Het |
| Or52j3 |
T |
C |
7: 102,836,735 (GRCm39) |
F309S |
possibly damaging |
Het |
| Or8g19 |
A |
G |
9: 39,056,278 (GRCm39) |
N294S |
probably null |
Het |
| Osbpl1a |
T |
A |
18: 13,038,138 (GRCm39) |
D271V |
probably damaging |
Het |
| Osmr |
G |
T |
15: 6,873,934 (GRCm39) |
D154E |
probably benign |
Het |
| Pcdh9 |
A |
G |
14: 94,124,484 (GRCm39) |
V562A |
probably damaging |
Het |
| Peak1 |
A |
C |
9: 56,166,726 (GRCm39) |
S401A |
probably benign |
Het |
| Pigk |
A |
T |
3: 152,446,486 (GRCm39) |
H195L |
probably benign |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Ppp2r1a |
C |
T |
17: 21,171,608 (GRCm39) |
R28C |
probably damaging |
Het |
| Pramel30 |
G |
T |
4: 144,059,323 (GRCm39) |
V345F |
probably damaging |
Het |
| Ptbp3 |
T |
C |
4: 59,493,311 (GRCm39) |
D123G |
probably benign |
Het |
| Ptgr2 |
G |
A |
12: 84,355,120 (GRCm39) |
E285K |
possibly damaging |
Het |
| Rassf1 |
G |
T |
9: 107,429,021 (GRCm39) |
V76L |
possibly damaging |
Het |
| Sec22a |
A |
G |
16: 35,134,461 (GRCm39) |
V307A |
probably damaging |
Het |
| Skint5 |
C |
T |
4: 113,852,845 (GRCm39) |
V18I |
probably benign |
Het |
| Slc1a5 |
T |
C |
7: 16,516,151 (GRCm39) |
V109A |
probably benign |
Het |
| St8sia5 |
T |
A |
18: 77,342,478 (GRCm39) |
M396K |
possibly damaging |
Het |
| Tiam1 |
T |
C |
16: 89,586,074 (GRCm39) |
E602G |
probably benign |
Het |
| Tll1 |
T |
C |
8: 64,527,297 (GRCm39) |
E408G |
probably damaging |
Het |
| Tpsb2 |
G |
A |
17: 25,586,108 (GRCm39) |
V109M |
probably benign |
Het |
| Trib1 |
T |
A |
15: 59,526,451 (GRCm39) |
|
probably null |
Het |
| Trio |
G |
T |
15: 27,852,019 (GRCm39) |
A765E |
possibly damaging |
Het |
| Uggt2 |
A |
T |
14: 119,286,838 (GRCm39) |
V193E |
probably damaging |
Het |
| Vmn1r115 |
G |
A |
7: 20,578,447 (GRCm39) |
P155L |
probably benign |
Het |
| Wdr31 |
A |
G |
4: 62,374,113 (GRCm39) |
L292S |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,525,462 (GRCm39) |
I127T |
probably benign |
Het |
| Yju2 |
G |
A |
17: 56,269,030 (GRCm39) |
C46Y |
probably damaging |
Het |
| Zfp442 |
G |
A |
2: 150,249,944 (GRCm39) |
Q596* |
probably null |
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 |
|
R0715:Agl
|
UTSW |
3 |
116,545,825 (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 |
|
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'- GCGTCTGTGATAGTTCCTCAG -3'
(R):5'- AGATAAGTCACAGCTTCCTCAGG -3'
Sequencing Primer
(F):5'- CAGGTTTTGGTCTTTTACAATCATG -3'
(R):5'- ACAGCTTCCTCAGGCCAGTTTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation