Incidental Mutation 'IGL00774:Aldob'
| ID |
277913 |
| 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: 0.411)
|
| Stock # |
IGL00774
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
49535995-49549546 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49536843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 349
(S349P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029987]
|
| AlphaFold |
Q91Y97 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029987
AA Change: S349P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000029987
Gene: ENSMUSG00000028307
AA Change: S349P
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,306,776 (GRCm39) |
A1397T |
possibly damaging |
Het |
| Cd2 |
A |
T |
3: 101,190,345 (GRCm39) |
|
probably null |
Het |
| Cmtm2a |
A |
G |
8: 105,019,562 (GRCm39) |
S43P |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,346,153 (GRCm39) |
|
probably benign |
Het |
| Cyp4a10 |
A |
T |
4: 115,389,735 (GRCm39) |
I447F |
probably damaging |
Het |
| E2f3 |
A |
T |
13: 30,102,687 (GRCm39) |
D68E |
probably damaging |
Het |
| Ect2 |
G |
A |
3: 27,152,592 (GRCm39) |
R869W |
probably damaging |
Het |
| Eml1 |
A |
G |
12: 108,480,774 (GRCm39) |
|
probably null |
Het |
| Fundc1 |
T |
A |
X: 17,424,252 (GRCm39) |
|
probably null |
Het |
| Gabrb1 |
G |
T |
5: 72,265,789 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
T |
G |
15: 91,686,036 (GRCm39) |
|
probably benign |
Het |
| Map3k2 |
C |
T |
18: 32,361,292 (GRCm39) |
P584L |
probably benign |
Het |
| Mindy2 |
T |
C |
9: 70,538,315 (GRCm39) |
D340G |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,652,124 (GRCm39) |
D877G |
probably damaging |
Het |
| Nol9 |
T |
C |
4: 152,136,472 (GRCm39) |
S515P |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,359,405 (GRCm39) |
I305V |
probably benign |
Het |
| Pign |
A |
G |
1: 105,525,481 (GRCm39) |
V449A |
probably benign |
Het |
| Rad54b |
G |
A |
4: 11,593,765 (GRCm39) |
R131K |
probably benign |
Het |
| Rgl3 |
A |
T |
9: 21,899,018 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,566,197 (GRCm39) |
D1407G |
probably damaging |
Het |
| Sf3b3 |
A |
T |
8: 111,544,270 (GRCm39) |
I790N |
probably damaging |
Het |
| Srebf1 |
C |
T |
11: 60,095,965 (GRCm39) |
R358Q |
probably damaging |
Het |
| Tmem18 |
A |
G |
12: 30,638,720 (GRCm39) |
R133G |
unknown |
Het |
| Tnfrsf11b |
T |
G |
15: 54,117,468 (GRCm39) |
R262S |
probably benign |
Het |
| Tsc1 |
A |
T |
2: 28,555,023 (GRCm39) |
H171L |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,006,785 (GRCm39) |
T1157A |
probably benign |
Het |
| Wdcp |
A |
G |
12: 4,905,303 (GRCm39) |
E608G |
probably damaging |
Het |
| Zbtb40 |
T |
G |
4: 136,721,835 (GRCm39) |
H848P |
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 |
|
IGL00976:Aldob
|
APN |
4 |
49,541,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation