Incidental Mutation 'IGL02206:Aldh8a1'
| ID |
284480 |
| 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 # |
IGL02206
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
21253199-21272477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21271474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 400
(V400A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042699]
|
| AlphaFold |
Q8BH00 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042699
AA Change: V400A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000038878
Gene: ENSMUSG00000037542
AA Change: V400A
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
T |
11: 84,151,573 (GRCm39) |
K824* |
probably null |
Het |
| Acot12 |
A |
G |
13: 91,908,106 (GRCm39) |
D96G |
probably damaging |
Het |
| Acvr2b |
C |
T |
9: 119,257,064 (GRCm39) |
Q98* |
probably null |
Het |
| Aox1 |
C |
A |
1: 58,104,499 (GRCm39) |
H559N |
probably benign |
Het |
| Arhgef18 |
T |
A |
8: 3,495,034 (GRCm39) |
I431N |
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,985,009 (GRCm39) |
D32G |
probably damaging |
Het |
| Cgas |
T |
C |
9: 78,350,362 (GRCm39) |
|
probably null |
Het |
| Cmtm8 |
T |
C |
9: 114,672,967 (GRCm39) |
H10R |
probably benign |
Het |
| Cnn1 |
T |
G |
9: 22,015,674 (GRCm39) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Defb23 |
C |
A |
2: 152,306,455 (GRCm39) |
E20* |
probably null |
Het |
| Dennd2a |
A |
T |
6: 39,500,383 (GRCm39) |
S61T |
probably damaging |
Het |
| Fam13a |
A |
T |
6: 58,964,204 (GRCm39) |
I76K |
probably benign |
Het |
| Fgd5 |
A |
G |
6: 91,964,239 (GRCm39) |
|
probably benign |
Het |
| Flt4 |
A |
T |
11: 49,521,217 (GRCm39) |
R409W |
probably damaging |
Het |
| Gramd1b |
T |
C |
9: 40,211,328 (GRCm39) |
T652A |
probably benign |
Het |
| Grik1 |
C |
T |
16: 87,732,808 (GRCm39) |
G703D |
probably damaging |
Het |
| Impg2 |
A |
G |
16: 56,079,960 (GRCm39) |
E479G |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,526,781 (GRCm39) |
N2743S |
probably damaging |
Het |
| Klc1 |
A |
G |
12: 111,744,550 (GRCm39) |
|
probably benign |
Het |
| Ndufa9 |
G |
A |
6: 126,821,366 (GRCm39) |
R75* |
probably null |
Het |
| Neurl4 |
A |
G |
11: 69,801,166 (GRCm39) |
N1181S |
probably damaging |
Het |
| Or5an9 |
T |
C |
19: 12,187,824 (GRCm39) |
I298T |
probably damaging |
Het |
| Phf1 |
A |
G |
17: 27,155,843 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,376,245 (GRCm39) |
I969T |
probably benign |
Het |
| Pprc1 |
G |
A |
19: 46,060,190 (GRCm39) |
R1538Q |
probably damaging |
Het |
| Rasd1 |
C |
T |
11: 59,854,778 (GRCm39) |
G234D |
possibly damaging |
Het |
| Rnf152 |
T |
C |
1: 105,212,549 (GRCm39) |
T3A |
probably benign |
Het |
| Rrh |
C |
T |
3: 129,605,346 (GRCm39) |
V115I |
probably benign |
Het |
| Rundc3a |
G |
T |
11: 102,290,460 (GRCm39) |
E217* |
probably null |
Het |
| Sae1 |
A |
T |
7: 16,064,581 (GRCm39) |
V306E |
possibly damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,363,102 (GRCm39) |
S89P |
possibly damaging |
Het |
| Serpinb9h |
A |
G |
13: 33,588,182 (GRCm39) |
T256A |
probably damaging |
Het |
| Sgo2b |
T |
A |
8: 64,394,118 (GRCm39) |
T74S |
possibly damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,604,022 (GRCm39) |
D48G |
probably damaging |
Het |
| Stn1 |
T |
C |
19: 47,504,612 (GRCm39) |
M177V |
possibly damaging |
Het |
| Tgm1 |
T |
C |
14: 55,942,392 (GRCm39) |
E653G |
possibly damaging |
Het |
| Thsd4 |
T |
C |
9: 60,301,398 (GRCm39) |
K299R |
probably benign |
Het |
| Ttc22 |
A |
G |
4: 106,493,186 (GRCm39) |
T278A |
probably damaging |
Het |
| Ubl4b |
G |
T |
3: 107,462,141 (GRCm39) |
Q40K |
possibly damaging |
Het |
| Zfp677 |
A |
G |
17: 21,613,499 (GRCm39) |
D31G |
probably 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 |
|
IGL01525:Aldh8a1
|
APN |
10 |
21,267,472 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2015-04-16 |
Incidental Mutation