Incidental Mutation 'IGL01525:Aldh8a1'
| ID |
89534 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aldh8a1
|
| Ensembl Gene |
ENSMUSG00000037542 |
| Gene Name |
aldehyde dehydrogenase 8 family, member A1 |
| Synonyms |
RALDH4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL01525
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
21253199-21272477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21267472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 286
(I286F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042699]
|
| AlphaFold |
Q8BH00 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042699
AA Change: I286F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038878
Gene: ENSMUSG00000037542
AA Change: I286F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
19 |
483 |
8.6e-170 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159163
|
| SMART Domains |
Protein: ENSMUSP00000124448
Gene: ENSMUSG00000037542
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
16 |
205 |
1.3e-54 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the aldehyde dehydrogenases family of proteins. It plays a role in a pathway of 9-cis-retinoic acid biosynthesis in vivo. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. Therefore, it is the first known aldehyde dehydrogenase to show a preference for 9-cis-retinal relative to all-trans-retinal. Three transcript variants encoding distinct protein isoforms have been identified for this gene. [provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
G |
15: 74,458,684 (GRCm39) |
E322G |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 83,924,616 (GRCm39) |
T404S |
possibly damaging |
Het |
| Asb1 |
A |
G |
1: 91,479,846 (GRCm39) |
T190A |
probably damaging |
Het |
| Atp8b1 |
G |
A |
18: 64,672,323 (GRCm39) |
R1014* |
probably null |
Het |
| Dgcr8 |
T |
C |
16: 18,101,808 (GRCm39) |
D158G |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,043,169 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,887,195 (GRCm39) |
T2659I |
probably damaging |
Het |
| Galt |
A |
G |
4: 41,756,068 (GRCm39) |
T45A |
probably benign |
Het |
| Gtpbp3 |
A |
G |
8: 71,943,078 (GRCm39) |
D164G |
probably damaging |
Het |
| Ift70b |
A |
T |
2: 75,767,226 (GRCm39) |
M509K |
probably damaging |
Het |
| Kmt2c |
T |
A |
5: 25,534,439 (GRCm39) |
|
probably benign |
Het |
| Lrrc59 |
A |
T |
11: 94,525,522 (GRCm39) |
Q106L |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,214,057 (GRCm39) |
I13M |
probably damaging |
Het |
| Muc19 |
T |
A |
15: 91,770,877 (GRCm39) |
|
noncoding transcript |
Het |
| Myo5b |
C |
T |
18: 74,873,620 (GRCm39) |
A1508V |
probably damaging |
Het |
| Or2o1 |
A |
G |
11: 49,051,501 (GRCm39) |
Y220C |
probably damaging |
Het |
| Or52ad1 |
T |
A |
7: 102,995,386 (GRCm39) |
I250F |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,221 (GRCm39) |
I47M |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,394,619 (GRCm39) |
E500G |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,759,936 (GRCm39) |
|
probably benign |
Het |
| S100a8 |
A |
T |
3: 90,576,876 (GRCm39) |
S10C |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,985,675 (GRCm39) |
V769A |
probably damaging |
Het |
| Sorbs1 |
G |
T |
19: 40,338,422 (GRCm39) |
T326K |
probably damaging |
Het |
| Spata31d1b |
T |
C |
13: 59,860,280 (GRCm39) |
I51T |
probably benign |
Het |
| Thumpd3 |
T |
C |
6: 113,024,597 (GRCm39) |
S64P |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,332,197 (GRCm39) |
L843P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,108 (GRCm39) |
I13587N |
probably damaging |
Het |
| Txndc2 |
A |
G |
17: 65,945,908 (GRCm39) |
S90P |
possibly damaging |
Het |
|
| Other mutations in Aldh8a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00807:Aldh8a1
|
APN |
10 |
21,271,329 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01095:Aldh8a1
|
APN |
10 |
21,265,180 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02206:Aldh8a1
|
APN |
10 |
21,271,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02232:Aldh8a1
|
APN |
10 |
21,271,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03213:Aldh8a1
|
APN |
10 |
21,260,616 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0105:Aldh8a1
|
UTSW |
10 |
21,271,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0105:Aldh8a1
|
UTSW |
10 |
21,271,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0893:Aldh8a1
|
UTSW |
10 |
21,267,593 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1168:Aldh8a1
|
UTSW |
10 |
21,260,530 (GRCm39) |
splice site |
probably null |
|
|
R1764:Aldh8a1
|
UTSW |
10 |
21,271,392 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4016:Aldh8a1
|
UTSW |
10 |
21,271,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4464:Aldh8a1
|
UTSW |
10 |
21,264,840 (GRCm39) |
intron |
probably benign |
|
|
R4915:Aldh8a1
|
UTSW |
10 |
21,271,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5816:Aldh8a1
|
UTSW |
10 |
21,271,329 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6032:Aldh8a1
|
UTSW |
10 |
21,264,970 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6032:Aldh8a1
|
UTSW |
10 |
21,264,970 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6581:Aldh8a1
|
UTSW |
10 |
21,256,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Aldh8a1
|
UTSW |
10 |
21,264,996 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7458:Aldh8a1
|
UTSW |
10 |
21,271,492 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7574:Aldh8a1
|
UTSW |
10 |
21,256,729 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8014:Aldh8a1
|
UTSW |
10 |
21,265,201 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8150:Aldh8a1
|
UTSW |
10 |
21,271,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8151:Aldh8a1
|
UTSW |
10 |
21,271,465 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8160:Aldh8a1
|
UTSW |
10 |
21,271,690 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9058:Aldh8a1
|
UTSW |
10 |
21,258,344 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9250:Aldh8a1
|
UTSW |
10 |
21,258,259 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9451:Aldh8a1
|
UTSW |
10 |
21,265,032 (GRCm39) |
missense |
probably benign |
|
|
R9578:Aldh8a1
|
UTSW |
10 |
21,253,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0011:Aldh8a1
|
UTSW |
10 |
21,265,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation