Incidental Mutation 'IGL03358:Alad'
| ID |
420026 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Alad
|
| Ensembl Gene |
ENSMUSG00000028393 |
| Gene Name |
aminolevulinate, delta-, dehydratase |
| Synonyms |
Lv |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03358
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
62427406-62438155 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 62428844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030090]
[ENSMUST00000107444]
|
| AlphaFold |
P10518 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030090
|
| SMART Domains |
Protein: ENSMUSP00000030090
Gene: ENSMUSG00000028393
| Domain | Start | End | E-Value | Type |
|---|
|
ALAD
|
2 |
327 |
1.56e-185 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107444
|
| SMART Domains |
Protein: ENSMUSP00000103068
Gene: ENSMUSG00000028393
| Domain | Start | End | E-Value | Type |
|---|
|
ALAD
|
2 |
327 |
1.56e-185 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137448
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
T |
C |
16: 64,586,909 (GRCm39) |
I272V |
possibly damaging |
Het |
| 4930590J08Rik |
A |
G |
6: 91,905,716 (GRCm39) |
N496D |
probably damaging |
Het |
| Adcy2 |
C |
T |
13: 68,877,396 (GRCm39) |
G448E |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Appbp2 |
A |
T |
11: 85,100,860 (GRCm39) |
M193K |
probably benign |
Het |
| Cd300a |
G |
A |
11: 114,788,623 (GRCm39) |
M204I |
possibly damaging |
Het |
| Cep350 |
T |
A |
1: 155,804,285 (GRCm39) |
M933L |
probably benign |
Het |
| Cyp2s1 |
T |
A |
7: 25,507,573 (GRCm39) |
N292I |
probably damaging |
Het |
| Gnl2 |
T |
C |
4: 124,946,387 (GRCm39) |
I536T |
probably damaging |
Het |
| Ift140 |
C |
T |
17: 25,306,958 (GRCm39) |
R898C |
probably damaging |
Het |
| Oosp2 |
A |
T |
19: 11,628,933 (GRCm39) |
L56* |
probably null |
Het |
| Pars2 |
A |
T |
4: 106,510,239 (GRCm39) |
H7L |
probably benign |
Het |
| Pbx4 |
T |
C |
8: 70,311,761 (GRCm39) |
S59P |
probably benign |
Het |
| Psg20 |
G |
T |
7: 18,414,891 (GRCm39) |
H332N |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,206,069 (GRCm39) |
E841G |
possibly damaging |
Het |
| Slc6a13 |
G |
A |
6: 121,311,495 (GRCm39) |
V384I |
probably benign |
Het |
| Spg21 |
G |
A |
9: 65,387,698 (GRCm39) |
V164I |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,935,852 (GRCm39) |
C361* |
probably null |
Het |
| Tsr1 |
T |
C |
11: 74,794,824 (GRCm39) |
V493A |
probably benign |
Het |
| Ube2u |
A |
G |
4: 100,404,472 (GRCm39) |
|
probably benign |
Het |
| Vav3 |
G |
A |
3: 109,554,989 (GRCm39) |
G79E |
probably damaging |
Het |
| Vmn1r81 |
T |
G |
7: 11,994,232 (GRCm39) |
R125S |
possibly damaging |
Het |
| Vmn2r45 |
A |
C |
7: 8,474,715 (GRCm39) |
L771R |
probably damaging |
Het |
| Vps54 |
T |
A |
11: 21,218,799 (GRCm39) |
H119Q |
probably damaging |
Het |
|
| Other mutations in Alad |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00964:Alad
|
APN |
4 |
62,432,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5867:Alad
|
UTSW |
4 |
62,431,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5905:Alad
|
UTSW |
4 |
62,428,359 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6028:Alad
|
UTSW |
4 |
62,428,359 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7554:Alad
|
UTSW |
4 |
62,430,023 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8015:Alad
|
UTSW |
4 |
62,430,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9144:Alad
|
UTSW |
4 |
62,430,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9299:Alad
|
UTSW |
4 |
62,429,760 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9535:Alad
|
UTSW |
4 |
62,428,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation