Incidental Mutation 'IGL03493:Aldoart1'
| ID |
490712 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aldoart1
|
| Ensembl Gene |
ENSMUSG00000059343 |
| Gene Name |
aldolase 1 A, retrogene 1 |
| Synonyms |
Aldoa-ps2, Aldo1-ps2, 4921524E03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
IGL03493
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
72768820-72770871 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72769884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 253
(T253I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078617]
[ENSMUST00000179234]
|
| AlphaFold |
A6ZI46 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078617
AA Change: T308I
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000077687
Gene: ENSMUSG00000059343
AA Change: T308I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycolytic
|
70 |
419 |
1.6e-190 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179234
AA Change: T253I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136908
Gene: ENSMUSG00000059343
AA Change: T253I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycolytic
|
15 |
364 |
6.6e-176 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ampd2 |
T |
C |
3: 107,982,674 (GRCm39) |
E694G |
probably damaging |
Het |
| Atcay |
C |
A |
10: 81,046,407 (GRCm39) |
E306* |
probably null |
Het |
| Atp13a5 |
G |
T |
16: 29,116,342 (GRCm39) |
D546E |
probably benign |
Het |
| C2cd2 |
T |
C |
16: 97,682,861 (GRCm39) |
D125G |
probably damaging |
Het |
| Col23a1 |
T |
C |
11: 51,455,632 (GRCm39) |
|
probably null |
Het |
| Col9a1 |
T |
A |
1: 24,260,651 (GRCm39) |
|
probably benign |
Het |
| Cyp4a31 |
T |
A |
4: 115,427,952 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
G |
A |
12: 117,976,533 (GRCm39) |
R2708C |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,772,059 (GRCm39) |
I537V |
probably benign |
Het |
| Ezh1 |
T |
C |
11: 101,094,617 (GRCm39) |
T392A |
probably benign |
Het |
| Hsd17b14 |
A |
T |
7: 45,205,515 (GRCm39) |
D42V |
probably damaging |
Het |
| Hsf2 |
A |
T |
10: 57,381,462 (GRCm39) |
I294F |
probably damaging |
Het |
| Ibtk |
G |
T |
9: 85,600,972 (GRCm39) |
S797R |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,936,950 (GRCm39) |
C183* |
probably null |
Het |
| Lnpep |
G |
T |
17: 17,799,433 (GRCm39) |
A74E |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,683,576 (GRCm39) |
|
probably benign |
Het |
| Matn1 |
A |
G |
4: 130,677,309 (GRCm39) |
R173G |
probably benign |
Het |
| Nyap1 |
A |
G |
5: 137,733,278 (GRCm39) |
I585T |
probably damaging |
Het |
| Or13a27 |
A |
T |
7: 139,925,066 (GRCm39) |
Y279N |
probably damaging |
Het |
| Or52e7 |
A |
G |
7: 104,685,151 (GRCm39) |
T249A |
probably damaging |
Het |
| Or5d39 |
G |
A |
2: 87,980,280 (GRCm39) |
P28S |
probably benign |
Het |
| Phactr2 |
A |
G |
10: 13,133,413 (GRCm39) |
V190A |
probably benign |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Rad51c |
A |
T |
11: 87,288,579 (GRCm39) |
H201Q |
probably benign |
Het |
| Sec63 |
C |
A |
10: 42,704,937 (GRCm39) |
D730E |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,297,226 (GRCm39) |
I39M |
probably damaging |
Het |
| Trav2 |
A |
G |
14: 52,804,745 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
G |
15: 9,361,569 (GRCm39) |
Y115C |
probably damaging |
Het |
| Zfp955b |
T |
G |
17: 33,521,519 (GRCm39) |
H329Q |
probably benign |
Het |
|
| Other mutations in Aldoart1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02499:Aldoart1
|
APN |
4 |
72,770,476 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03067:Aldoart1
|
APN |
4 |
72,770,194 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03273:Aldoart1
|
APN |
4 |
72,770,346 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0145:Aldoart1
|
UTSW |
4 |
72,769,576 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0478:Aldoart1
|
UTSW |
4 |
72,770,580 (GRCm39) |
missense |
probably benign |
|
|
R1770:Aldoart1
|
UTSW |
4 |
72,770,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2044:Aldoart1
|
UTSW |
4 |
72,770,779 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4627:Aldoart1
|
UTSW |
4 |
72,770,680 (GRCm39) |
missense |
probably benign |
|
|
R5344:Aldoart1
|
UTSW |
4 |
72,770,352 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5867:Aldoart1
|
UTSW |
4 |
72,770,770 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6234:Aldoart1
|
UTSW |
4 |
72,770,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7431:Aldoart1
|
UTSW |
4 |
72,769,678 (GRCm39) |
nonsense |
probably null |
|
|
R7672:Aldoart1
|
UTSW |
4 |
72,770,747 (GRCm39) |
missense |
probably benign |
|
|
R7847:Aldoart1
|
UTSW |
4 |
72,770,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9259:Aldoart1
|
UTSW |
4 |
72,770,680 (GRCm39) |
missense |
probably benign |
|
|
R9333:Aldoart1
|
UTSW |
4 |
72,770,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9572:Aldoart1
|
UTSW |
4 |
72,770,770 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Aldoart1
|
UTSW |
4 |
72,770,241 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2017-10-20 |
Incidental Mutation