Incidental Mutation 'IGL00976:Aldob'
ID |
27342 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Aldob
|
Ensembl Gene |
ENSMUSG00000028307 |
Gene Name |
aldolase B, fructose-bisphosphate |
Synonyms |
Aldo-2, Aldo2 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.369)
|
Stock # |
IGL00976
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
49535995-49549546 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 49541220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 151
(V151L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029987
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029987]
|
AlphaFold |
Q91Y97 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029987
AA Change: V151L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000029987 Gene: ENSMUSG00000028307 AA Change: V151L
Domain | Start | End | E-Value | Type |
Pfam:Glycolytic
|
15 |
364 |
1.8e-178 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144372
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148415
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a subunit of the homotetrameric enzyme aldolase B, an isozyme of the class I fructose 1,6-bisphosphate aldolase enzyme. This enzyme catalyzes the conversion of fructose 1,6-bisphosphate to dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. Homozygous knockout mice for this gene exhibit liver damage and death following fructose ingestion. A pseudogene of this gene has been identified in the genome. [provided by RefSeq, Aug 2015] PHENOTYPE: Following exposure to a 40% fructose diet, mice homozygous for a null allele exhibit failure to thrive, liver pathology and dysfunction, and a high mortality rate. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted(3)
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930519F16Rik |
A |
G |
X: 102,226,868 (GRCm39) |
|
probably benign |
Het |
Cacna1i |
G |
A |
15: 80,239,846 (GRCm39) |
M298I |
probably benign |
Het |
Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
Ccdc186 |
G |
A |
19: 56,785,932 (GRCm39) |
T701M |
probably damaging |
Het |
Ccdc190 |
A |
T |
1: 169,761,309 (GRCm39) |
H137L |
probably benign |
Het |
Clhc1 |
G |
A |
11: 29,511,389 (GRCm39) |
D278N |
probably benign |
Het |
Cntnap3 |
T |
C |
13: 64,942,166 (GRCm39) |
Y188C |
probably damaging |
Het |
Dnah1 |
A |
C |
14: 31,000,095 (GRCm39) |
V2466G |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 31,070,684 (GRCm39) |
T4457A |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,487,169 (GRCm39) |
Q3388R |
probably benign |
Het |
Hecw1 |
T |
A |
13: 14,493,557 (GRCm39) |
D316V |
probably damaging |
Het |
Il1rap |
T |
C |
16: 26,517,589 (GRCm39) |
V263A |
probably benign |
Het |
Il6 |
G |
A |
5: 30,219,839 (GRCm39) |
G72S |
probably benign |
Het |
Katnal2 |
T |
C |
18: 77,105,189 (GRCm39) |
Y86C |
probably damaging |
Het |
Kdm7a |
G |
T |
6: 39,121,332 (GRCm39) |
S874R |
possibly damaging |
Het |
Mybpc2 |
T |
C |
7: 44,171,741 (GRCm39) |
|
probably null |
Het |
Nphs1 |
T |
G |
7: 30,160,110 (GRCm39) |
S130A |
possibly damaging |
Het |
Ntrk3 |
C |
T |
7: 78,100,701 (GRCm39) |
V444I |
probably benign |
Het |
Numbl |
T |
C |
7: 26,968,235 (GRCm39) |
V144A |
possibly damaging |
Het |
Or8g33 |
T |
A |
9: 39,337,953 (GRCm39) |
Y138F |
probably benign |
Het |
P2rx1 |
T |
C |
11: 72,903,826 (GRCm39) |
|
probably null |
Het |
Pcdhb3 |
G |
A |
18: 37,436,001 (GRCm39) |
V656I |
probably benign |
Het |
Pole |
A |
G |
5: 110,471,438 (GRCm39) |
Y1394C |
probably benign |
Het |
Pramel24 |
T |
A |
4: 143,453,585 (GRCm39) |
M231K |
probably damaging |
Het |
Rbm47 |
A |
G |
5: 66,184,081 (GRCm39) |
V174A |
possibly damaging |
Het |
Rhox4f |
T |
C |
X: 36,786,048 (GRCm39) |
|
probably benign |
Het |
Serpina12 |
T |
C |
12: 103,998,787 (GRCm39) |
Y317C |
probably damaging |
Het |
Slc12a5 |
T |
A |
2: 164,821,224 (GRCm39) |
I236N |
probably damaging |
Het |
Slc4a4 |
G |
A |
5: 89,102,657 (GRCm39) |
G32R |
probably damaging |
Het |
Slco1a4 |
T |
C |
6: 141,752,908 (GRCm39) |
|
probably null |
Het |
Sorcs3 |
A |
T |
19: 48,755,542 (GRCm39) |
N894I |
probably damaging |
Het |
Stk38l |
A |
G |
6: 146,676,900 (GRCm39) |
E393G |
probably benign |
Het |
Synpo |
A |
G |
18: 60,736,491 (GRCm39) |
I485T |
possibly damaging |
Het |
Tenm3 |
T |
A |
8: 48,709,876 (GRCm39) |
M1687L |
probably benign |
Het |
Ttc39c |
T |
C |
18: 12,817,952 (GRCm39) |
|
probably benign |
Het |
Unc13d |
T |
C |
11: 115,961,293 (GRCm39) |
E378G |
probably damaging |
Het |
Vmn2r118 |
T |
A |
17: 55,900,204 (GRCm39) |
N567Y |
probably damaging |
Het |
|
Other mutations in Aldob |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00770:Aldob
|
APN |
4 |
49,536,843 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00774:Aldob
|
APN |
4 |
49,536,843 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02118:Aldob
|
APN |
4 |
49,538,790 (GRCm39) |
nonsense |
probably null |
|
IGL02494:Aldob
|
APN |
4 |
49,541,138 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03001:Aldob
|
APN |
4 |
49,542,844 (GRCm39) |
missense |
probably damaging |
1.00 |
despondent
|
UTSW |
4 |
49,539,789 (GRCm39) |
missense |
probably damaging |
1.00 |
Saddened
|
UTSW |
4 |
49,538,796 (GRCm39) |
missense |
probably benign |
|
P0014:Aldob
|
UTSW |
4 |
49,538,153 (GRCm39) |
missense |
probably benign |
0.34 |
R0046:Aldob
|
UTSW |
4 |
49,543,842 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0046:Aldob
|
UTSW |
4 |
49,543,842 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1770:Aldob
|
UTSW |
4 |
49,536,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R1867:Aldob
|
UTSW |
4 |
49,543,835 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1975:Aldob
|
UTSW |
4 |
49,538,171 (GRCm39) |
missense |
probably benign |
0.06 |
R6519:Aldob
|
UTSW |
4 |
49,543,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R6858:Aldob
|
UTSW |
4 |
49,538,796 (GRCm39) |
missense |
probably benign |
|
R6897:Aldob
|
UTSW |
4 |
49,539,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R7106:Aldob
|
UTSW |
4 |
49,541,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R7846:Aldob
|
UTSW |
4 |
49,538,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R8195:Aldob
|
UTSW |
4 |
49,538,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |