Incidental Mutation 'R8150:Aldh8a1'
ID |
632918 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aldh8a1
|
Ensembl Gene |
ENSMUSG00000037542 |
Gene Name |
aldehyde dehydrogenase 8 family, member A1 |
Synonyms |
RALDH4 |
MMRRC Submission |
067576-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R8150 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
21253199-21272477 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21271444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 390
(E390G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038878
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042699]
|
AlphaFold |
Q8BH00 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042699
AA Change: E390G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038878 Gene: ENSMUSG00000037542 AA Change: E390G
Domain | Start | End | E-Value | Type |
Pfam:Aldedh
|
19 |
483 |
8.6e-170 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.5%
- 20x: 94.4%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
T |
A |
2: 19,538,635 (GRCm39) |
M129L |
probably benign |
Het |
Aadacl2fm1 |
A |
G |
3: 59,843,558 (GRCm39) |
D84G |
probably damaging |
Het |
Abca2 |
T |
C |
2: 25,337,393 (GRCm39) |
I2416T |
probably damaging |
Het |
Abca3 |
A |
G |
17: 24,615,522 (GRCm39) |
D871G |
probably benign |
Het |
Akap9 |
C |
T |
5: 4,011,982 (GRCm39) |
T895I |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,741,162 (GRCm39) |
D1574V |
|
Het |
Blmh |
T |
C |
11: 76,859,455 (GRCm39) |
V352A |
probably benign |
Het |
Cacna1i |
T |
C |
15: 80,259,540 (GRCm39) |
L1270P |
probably damaging |
Het |
Ccdc80 |
T |
A |
16: 44,947,792 (GRCm39) |
H923Q |
probably damaging |
Het |
Cdc27 |
G |
A |
11: 104,406,286 (GRCm39) |
H610Y |
probably damaging |
Het |
Cep126 |
T |
C |
9: 8,101,791 (GRCm39) |
I248V |
probably benign |
Het |
Ces5a |
T |
C |
8: 94,257,430 (GRCm39) |
N125S |
probably damaging |
Het |
Chd3 |
G |
A |
11: 69,254,510 (GRCm39) |
H201Y |
probably benign |
Het |
Cpeb1 |
T |
C |
7: 81,007,152 (GRCm39) |
T292A |
probably damaging |
Het |
Gli2 |
G |
A |
1: 118,763,558 (GRCm39) |
T1531I |
probably damaging |
Het |
Gm6871 |
T |
C |
7: 41,197,185 (GRCm39) |
T7A |
|
Het |
Kank1 |
A |
G |
19: 25,388,163 (GRCm39) |
D612G |
possibly damaging |
Het |
Lhcgr |
AT |
ATT |
17: 89,049,677 (GRCm39) |
615 |
probably null |
Het |
Mfsd6 |
T |
A |
1: 52,747,800 (GRCm39) |
D355V |
probably benign |
Het |
Myo7a |
T |
C |
7: 97,712,846 (GRCm39) |
K1710E |
probably benign |
Het |
Or13d1 |
C |
G |
4: 52,970,788 (GRCm39) |
H56D |
probably damaging |
Het |
Or52ae7 |
A |
G |
7: 103,119,459 (GRCm39) |
D71G |
probably damaging |
Het |
Pcdha8 |
G |
A |
18: 37,126,264 (GRCm39) |
V249M |
probably damaging |
Het |
Pglyrp3 |
A |
G |
3: 91,933,790 (GRCm39) |
D145G |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,410,055 (GRCm39) |
K2521E |
possibly damaging |
Het |
Pld3 |
A |
G |
7: 27,232,086 (GRCm39) |
V398A |
probably damaging |
Het |
Plxnb1 |
A |
T |
9: 108,941,146 (GRCm39) |
T1642S |
probably damaging |
Het |
Ppp2r1a |
T |
G |
17: 21,179,700 (GRCm39) |
V348G |
possibly damaging |
Het |
Prdm2 |
C |
A |
4: 142,859,303 (GRCm39) |
C1329F |
possibly damaging |
Het |
Ric8a |
G |
T |
7: 140,441,269 (GRCm39) |
G423V |
probably damaging |
Het |
Rnf17 |
A |
G |
14: 56,658,593 (GRCm39) |
D94G |
probably benign |
Het |
Serpina3f |
T |
C |
12: 104,185,769 (GRCm39) |
F325L |
probably damaging |
Het |
Sin3a |
T |
A |
9: 57,034,568 (GRCm39) |
V1247E |
possibly damaging |
Het |
Skint5 |
C |
A |
4: 113,798,087 (GRCm39) |
M165I |
probably benign |
Het |
Slc19a3 |
T |
G |
1: 83,000,216 (GRCm39) |
Y267S |
probably damaging |
Het |
Slc22a27 |
A |
T |
19: 7,887,390 (GRCm39) |
F196Y |
possibly damaging |
Het |
Slc5a4b |
A |
T |
10: 75,939,680 (GRCm39) |
I152N |
possibly damaging |
Het |
Tbc1d9 |
T |
A |
8: 83,982,519 (GRCm39) |
V768E |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,063,534 (GRCm39) |
M988K |
probably benign |
Het |
Top2b |
T |
A |
14: 16,393,291 (GRCm38) |
F317I |
probably damaging |
Het |
Wfdc8 |
A |
T |
2: 164,439,455 (GRCm39) |
L309* |
probably null |
Het |
Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
Zfp949 |
C |
T |
9: 88,452,053 (GRCm39) |
T541I |
probably benign |
Het |
Zkscan16 |
T |
A |
4: 58,952,407 (GRCm39) |
I235N |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGAAACACCCAACGGTAAG -3'
(R):5'- AGCTCTTCATCCCTCCAAAGG -3'
Sequencing Primer
(F):5'- ATAATTATGGTTTTCACTCCCCCAGG -3'
(R):5'- AGGTTCAGCTCCCTGATGAG -3'
|
Posted On |
2020-06-30 |