Incidental Mutation 'IGL03273:Aldoart1'
| ID |
415316 |
| 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 # |
IGL03273
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
72768820-72770871 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72770346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 154
(K154R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078617]
[ENSMUST00000179234]
|
| AlphaFold |
A6ZI46 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078617
AA Change: K154R
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000077687
Gene: ENSMUSG00000059343
AA Change: K154R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycolytic
|
70 |
419 |
1.6e-190 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179234
AA Change: K99R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000136908
Gene: ENSMUSG00000059343
AA Change: K99R
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,258,430 (GRCm39) |
I29T |
probably damaging |
Het |
| Adam32 |
T |
A |
8: 25,411,356 (GRCm39) |
I102F |
probably damaging |
Het |
| Cdin1 |
A |
G |
2: 115,462,472 (GRCm39) |
Y68C |
probably damaging |
Het |
| Cep63 |
T |
C |
9: 102,479,666 (GRCm39) |
K349E |
probably benign |
Het |
| Col28a1 |
A |
G |
6: 8,103,484 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,696,033 (GRCm39) |
N130S |
probably damaging |
Het |
| Dnah5 |
T |
G |
15: 28,458,795 (GRCm39) |
F4477L |
probably damaging |
Het |
| Fbln7 |
A |
T |
2: 128,737,390 (GRCm39) |
T402S |
probably benign |
Het |
| Frem2 |
A |
C |
3: 53,444,930 (GRCm39) |
Y2400* |
probably null |
Het |
| Gm11937 |
C |
T |
11: 99,500,627 (GRCm39) |
|
probably benign |
Het |
| Guca1a |
T |
C |
17: 47,706,098 (GRCm39) |
D127G |
probably benign |
Het |
| Hrh3 |
T |
A |
2: 179,742,441 (GRCm39) |
T396S |
possibly damaging |
Het |
| Map1a |
A |
G |
2: 121,130,719 (GRCm39) |
N512D |
probably damaging |
Het |
| Mysm1 |
A |
C |
4: 94,853,955 (GRCm39) |
S215A |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nup93 |
T |
A |
8: 95,032,905 (GRCm39) |
D556E |
probably benign |
Het |
| Ofcc1 |
T |
A |
13: 40,334,001 (GRCm39) |
K363N |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,798,130 (GRCm39) |
S1374R |
probably damaging |
Het |
| Samt2b |
A |
T |
X: 153,122,697 (GRCm39) |
F114L |
probably benign |
Het |
| Slitrk2 |
T |
C |
X: 65,697,602 (GRCm39) |
I31T |
probably benign |
Het |
| Stk40 |
A |
G |
4: 126,017,599 (GRCm39) |
N42S |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,180,574 (GRCm39) |
L600P |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,949,547 (GRCm39) |
S1692G |
probably damaging |
Het |
| Tmem63c |
G |
T |
12: 87,128,576 (GRCm39) |
V534L |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,460,494 (GRCm39) |
K607E |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,806,163 (GRCm39) |
S2299T |
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 |
|
IGL03493:Aldoart1
|
APN |
4 |
72,769,884 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2016-08-02 |
Incidental Mutation