Incidental Mutation 'IGL00807:Aldh8a1'
| ID |
8775 |
| 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 # |
IGL00807
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
21253199-21272477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21271329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 352
(I352F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042699]
|
| AlphaFold |
Q8BH00 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042699
AA Change: I352F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038878
Gene: ENSMUSG00000037542
AA Change: I352F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
19 |
483 |
8.6e-170 |
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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,328,285 (GRCm39) |
T3453S |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,985,886 (GRCm39) |
V2390E |
possibly damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,725,628 (GRCm39) |
|
probably benign |
Het |
| Ccr1l1 |
A |
T |
9: 123,777,506 (GRCm39) |
W314R |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,969,018 (GRCm39) |
I1218V |
possibly damaging |
Het |
| Dlc1 |
G |
A |
8: 37,040,002 (GRCm39) |
T1386I |
probably benign |
Het |
| Frs2 |
A |
C |
10: 116,910,791 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
T |
C |
11: 56,902,866 (GRCm39) |
Y3H |
probably benign |
Het |
| Iigp1c |
C |
T |
18: 60,378,483 (GRCm39) |
S6F |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,123,961 (GRCm39) |
N609S |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,825,008 (GRCm39) |
M1541K |
possibly damaging |
Het |
| Mmachc |
A |
T |
4: 116,563,118 (GRCm39) |
V79E |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,509,757 (GRCm39) |
D21G |
probably damaging |
Het |
| Pde2a |
G |
A |
7: 101,153,619 (GRCm39) |
V436M |
probably damaging |
Het |
| Polr1has |
G |
T |
17: 37,275,813 (GRCm39) |
A132S |
probably damaging |
Het |
| Rhot1 |
C |
T |
11: 80,116,928 (GRCm39) |
H101Y |
probably benign |
Het |
| Sh2d4a |
T |
C |
8: 68,782,018 (GRCm39) |
|
probably null |
Het |
| Taar2 |
A |
G |
10: 23,816,573 (GRCm39) |
M38V |
probably benign |
Het |
| Tek |
A |
T |
4: 94,686,956 (GRCm39) |
N158I |
probably damaging |
Het |
|
| Other mutations in Aldh8a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01095:Aldh8a1
|
APN |
10 |
21,265,180 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01525:Aldh8a1
|
APN |
10 |
21,267,472 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2012-12-06 |
Incidental Mutation