Incidental Mutation 'R7770:Agl'
ID |
598517 |
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 |
045826-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.360)
|
Stock # |
R7770 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
116533648-116601815 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 116551886 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040603]
[ENSMUST00000159742]
[ENSMUST00000161336]
[ENSMUST00000162792]
|
AlphaFold |
F8VPN4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000040603
|
SMART Domains |
Protein: ENSMUSP00000044012 Gene: ENSMUSG00000033400
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 null
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 |
probably null
Transcript: ENSMUST00000160484
|
SMART Domains |
Protein: ENSMUSP00000123985 Gene: ENSMUSG00000033400
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 null
Transcript: ENSMUST00000162792
|
SMART Domains |
Protein: ENSMUSP00000124149 Gene: ENSMUSG00000033400
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
98% (55/56) |
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 |
1700017B05Rik |
A |
T |
9: 57,165,894 (GRCm39) |
V160E |
probably damaging |
Het |
Abhd8 |
C |
T |
8: 71,910,894 (GRCm39) |
G305S |
probably benign |
Het |
Adamts20 |
A |
G |
15: 94,231,579 (GRCm39) |
V870A |
probably benign |
Het |
Cav3 |
A |
T |
6: 112,449,147 (GRCm39) |
D55V |
probably damaging |
Het |
Ccser2 |
T |
A |
14: 36,648,831 (GRCm39) |
D556V |
probably damaging |
Het |
Cdc20b |
T |
C |
13: 113,215,193 (GRCm39) |
Y254H |
probably benign |
Het |
Commd8 |
A |
G |
5: 72,317,223 (GRCm39) |
L182S |
probably damaging |
Het |
Cyp1b1 |
G |
A |
17: 80,020,728 (GRCm39) |
A338V |
probably damaging |
Het |
Def8 |
C |
A |
8: 124,186,798 (GRCm39) |
D459E |
unknown |
Het |
Dennd5b |
T |
C |
6: 148,943,214 (GRCm39) |
Y554C |
probably damaging |
Het |
Dnah7c |
A |
T |
1: 46,665,460 (GRCm39) |
|
probably null |
Het |
Dnajc5b |
T |
A |
3: 19,633,181 (GRCm39) |
C135S |
probably benign |
Het |
Dnpep |
G |
A |
1: 75,293,890 (GRCm39) |
|
probably benign |
Het |
Drc1 |
C |
T |
5: 30,507,856 (GRCm39) |
Q293* |
probably null |
Het |
Glmp |
A |
G |
3: 88,233,077 (GRCm39) |
S72G |
probably benign |
Het |
Gm5431 |
A |
T |
11: 48,779,285 (GRCm39) |
S546T |
probably benign |
Het |
Gnptab |
T |
A |
10: 88,247,782 (GRCm39) |
C70S |
probably benign |
Het |
Gpr83 |
G |
A |
9: 14,778,170 (GRCm39) |
R180Q |
probably damaging |
Het |
Gucy1a1 |
A |
T |
3: 82,016,112 (GRCm39) |
L292Q |
possibly damaging |
Het |
Gzmd |
T |
C |
14: 56,368,720 (GRCm39) |
D58G |
probably damaging |
Het |
Hoxa10 |
A |
G |
6: 52,211,245 (GRCm39) |
S224P |
possibly damaging |
Het |
Hoxa13 |
G |
A |
6: 52,237,247 (GRCm39) |
|
probably benign |
Het |
Igsf6 |
A |
G |
7: 120,667,548 (GRCm39) |
V156A |
probably benign |
Het |
Il6st |
A |
T |
13: 112,639,338 (GRCm39) |
I649F |
probably damaging |
Het |
Kcnh3 |
G |
A |
15: 99,131,147 (GRCm39) |
V507M |
probably damaging |
Het |
Lgr5 |
A |
G |
10: 115,307,899 (GRCm39) |
I253T |
probably damaging |
Het |
Met |
T |
A |
6: 17,491,406 (GRCm39) |
V56D |
possibly damaging |
Het |
Mettl22 |
A |
T |
16: 8,303,764 (GRCm39) |
I277F |
possibly damaging |
Het |
Nadsyn1 |
G |
A |
7: 143,359,740 (GRCm39) |
R411W |
probably damaging |
Het |
Nrros |
T |
G |
16: 31,962,346 (GRCm39) |
E557A |
probably benign |
Het |
Or10ak14 |
A |
T |
4: 118,611,254 (GRCm39) |
H162Q |
probably benign |
Het |
Or5w1 |
T |
C |
2: 87,486,813 (GRCm39) |
I151V |
not run |
Het |
Or8j3b |
C |
T |
2: 86,205,604 (GRCm39) |
V51M |
possibly damaging |
Het |
Pih1d2 |
G |
A |
9: 50,533,101 (GRCm39) |
R243Q |
not run |
Het |
Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
Ppp1r3a |
A |
G |
6: 14,754,977 (GRCm39) |
V90A |
probably benign |
Het |
Prmt9 |
T |
A |
8: 78,285,814 (GRCm39) |
|
probably null |
Het |
Rapgef4 |
T |
A |
2: 72,028,739 (GRCm39) |
N385K |
possibly damaging |
Het |
Rbm28 |
G |
A |
6: 29,164,627 (GRCm39) |
|
probably benign |
Het |
Rhobtb3 |
A |
T |
13: 76,065,934 (GRCm39) |
S150T |
probably damaging |
Het |
Serpinb6b |
T |
C |
13: 33,161,512 (GRCm39) |
V195A |
probably benign |
Het |
Sesn1 |
T |
A |
10: 41,770,054 (GRCm39) |
I99N |
probably damaging |
Het |
Setd1b |
G |
A |
5: 123,296,815 (GRCm39) |
|
probably benign |
Het |
Slc22a19 |
T |
A |
19: 7,681,360 (GRCm39) |
|
probably null |
Het |
Slc9a4 |
T |
C |
1: 40,640,123 (GRCm39) |
I305T |
probably damaging |
Het |
Smg6 |
T |
A |
11: 74,884,687 (GRCm39) |
N3K |
unknown |
Het |
Spta1 |
C |
A |
1: 174,023,547 (GRCm39) |
Y651* |
probably null |
Het |
Tatdn3 |
G |
A |
1: 190,791,053 (GRCm39) |
P74S |
probably benign |
Het |
Tet2 |
C |
T |
3: 133,186,056 (GRCm39) |
R1127Q |
possibly damaging |
Het |
Tgfbi |
T |
A |
13: 56,780,657 (GRCm39) |
|
probably null |
Het |
Tmprss9 |
A |
G |
10: 80,733,903 (GRCm39) |
|
probably null |
Het |
Tox4 |
T |
C |
14: 52,517,299 (GRCm39) |
Y10H |
probably damaging |
Het |
Trappc10 |
A |
T |
10: 78,046,679 (GRCm39) |
S407T |
probably damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,708,336 (GRCm39) |
C24R |
probably damaging |
Het |
Wdr24 |
C |
A |
17: 26,046,070 (GRCm39) |
A465D |
probably benign |
Het |
Wfdc8 |
A |
G |
2: 164,439,594 (GRCm39) |
S263P |
unknown |
Het |
Zc3h15 |
T |
A |
2: 83,488,476 (GRCm39) |
I138N |
possibly damaging |
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 |
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 |
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'- CAATACTACCTTGAGAATTGGCTG -3'
(R):5'- CAGGGAAAGTACATGTCCTCACC -3'
Sequencing Primer
(F):5'- CTACCTTGAGAATTGGCTGACAAAAG -3'
(R):5'- CTCACCTTCCTAGAGTTGAGGG -3'
|
Posted On |
2019-11-26 |