Incidental Mutation 'IGL02118:Aldob'
| ID |
280474 |
| 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 # |
IGL02118
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
49535995-49549546 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 49538790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 243
(K243*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029987]
|
| AlphaFold |
Q91Y97 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029987
AA Change: K243*
|
| SMART Domains |
Protein: ENSMUSP00000029987
Gene: ENSMUSG00000028307
AA Change: K243*
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,758,865 (GRCm39) |
Y359H |
possibly damaging |
Het |
| Actn2 |
A |
G |
13: 12,291,433 (GRCm39) |
|
probably benign |
Het |
| Actr8 |
T |
C |
14: 29,704,728 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
| Arfgap1 |
T |
C |
2: 180,622,237 (GRCm39) |
F274S |
possibly damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cask |
T |
C |
X: 13,425,634 (GRCm39) |
I471V |
probably damaging |
Het |
| Cdc42ep4 |
C |
T |
11: 113,619,942 (GRCm39) |
G150S |
probably benign |
Het |
| Cpne1 |
T |
G |
2: 155,919,563 (GRCm39) |
D278A |
possibly damaging |
Het |
| Gcn1 |
A |
G |
5: 115,748,938 (GRCm39) |
E1856G |
probably damaging |
Het |
| Gm8362 |
A |
T |
14: 18,149,595 (GRCm39) |
V159E |
probably damaging |
Het |
| Golga5 |
A |
G |
12: 102,462,011 (GRCm39) |
I700V |
possibly damaging |
Het |
| Ifi206 |
T |
C |
1: 173,309,334 (GRCm39) |
T221A |
probably benign |
Het |
| Ighv2-6-8 |
T |
C |
12: 113,760,037 (GRCm39) |
K24R |
possibly damaging |
Het |
| Morc1 |
T |
C |
16: 48,407,467 (GRCm39) |
L661P |
probably benign |
Het |
| Per2 |
G |
A |
1: 91,352,031 (GRCm39) |
T825I |
probably damaging |
Het |
| Plscr1l1 |
A |
T |
9: 92,233,011 (GRCm39) |
K45* |
probably null |
Het |
| Pramel20 |
A |
T |
4: 143,297,726 (GRCm39) |
T49S |
probably benign |
Het |
| Prkar2b |
A |
G |
12: 32,025,963 (GRCm39) |
V19A |
probably damaging |
Het |
| Psmb8 |
T |
A |
17: 34,420,198 (GRCm39) |
D263E |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,779,117 (GRCm39) |
I563T |
probably benign |
Het |
| Retreg1 |
T |
G |
15: 25,966,709 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
A |
G |
9: 72,524,486 (GRCm39) |
T559A |
probably benign |
Het |
| Rnf31 |
T |
G |
14: 55,836,569 (GRCm39) |
I801S |
probably damaging |
Het |
| Rom1 |
G |
T |
19: 8,906,386 (GRCm39) |
T51N |
possibly damaging |
Het |
| Sema6b |
G |
T |
17: 56,439,821 (GRCm39) |
P7T |
probably benign |
Het |
| Stpg1 |
A |
G |
4: 135,235,375 (GRCm39) |
|
probably benign |
Het |
| Sugct |
A |
T |
13: 17,627,105 (GRCm39) |
Y249* |
probably null |
Het |
| Tbc1d21 |
C |
T |
9: 58,267,746 (GRCm39) |
V317M |
probably benign |
Het |
| Tcea2 |
A |
G |
2: 181,327,628 (GRCm39) |
I125V |
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,216,186 (GRCm39) |
D19V |
probably damaging |
Het |
| Tti2 |
T |
A |
8: 31,645,537 (GRCm39) |
|
probably null |
Het |
| Usp32 |
A |
T |
11: 84,923,003 (GRCm39) |
Y142* |
probably null |
Het |
| Vill |
A |
G |
9: 118,889,466 (GRCm39) |
Y134C |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,835,879 (GRCm39) |
D14G |
probably damaging |
Het |
| Zfp598 |
T |
C |
17: 24,896,591 (GRCm39) |
Y223H |
probably damaging |
Het |
| Znhit6 |
G |
T |
3: 145,283,859 (GRCm39) |
C43F |
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 |
|
IGL00976:Aldob
|
APN |
4 |
49,541,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation