Incidental Mutation 'R5816:Aldh8a1'
| ID |
449051 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh8a1
|
| Ensembl Gene |
ENSMUSG00000037542 |
| Gene Name |
aldehyde dehydrogenase 8 family, member A1 |
| Synonyms |
RALDH4 |
| MMRRC Submission |
043214-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R5816 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| 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 |
|---|
| Abcc3 |
T |
C |
11: 94,234,563 (GRCm39) |
D1501G |
probably damaging |
Het |
| Bend7 |
G |
A |
2: 4,749,143 (GRCm39) |
E87K |
probably damaging |
Het |
| Bend7 |
A |
G |
2: 4,757,710 (GRCm39) |
R251G |
probably benign |
Het |
| Cep72 |
A |
T |
13: 74,197,150 (GRCm39) |
S402T |
probably benign |
Het |
| Cer1 |
A |
G |
4: 82,801,120 (GRCm39) |
V181A |
probably damaging |
Het |
| Ces1b |
T |
C |
8: 93,799,890 (GRCm39) |
N162S |
probably benign |
Het |
| Cyp1a2 |
T |
C |
9: 57,588,336 (GRCm39) |
N296S |
probably benign |
Het |
| Cyria |
A |
G |
12: 12,408,166 (GRCm39) |
D64G |
probably benign |
Het |
| Dst |
C |
T |
1: 34,218,315 (GRCm39) |
A1585V |
probably benign |
Het |
| Dzip1 |
G |
A |
14: 119,146,892 (GRCm39) |
P339L |
probably benign |
Het |
| Eif4enif1 |
T |
C |
11: 3,192,401 (GRCm39) |
I568T |
probably benign |
Het |
| Eif5a |
C |
T |
11: 69,808,499 (GRCm39) |
R109Q |
possibly damaging |
Het |
| Foxj2 |
G |
A |
6: 122,810,695 (GRCm39) |
S225N |
probably benign |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
| Galnt14 |
T |
C |
17: 73,881,877 (GRCm39) |
Y74C |
probably damaging |
Het |
| Glrb |
T |
A |
3: 80,769,286 (GRCm39) |
N147I |
probably damaging |
Het |
| Grb14 |
A |
T |
2: 64,747,628 (GRCm39) |
M377K |
probably damaging |
Het |
| Kcng1 |
C |
T |
2: 168,110,643 (GRCm39) |
E174K |
possibly damaging |
Het |
| Kdm3b |
A |
C |
18: 34,961,522 (GRCm39) |
E1433A |
probably damaging |
Het |
| Matn3 |
G |
A |
12: 9,020,571 (GRCm39) |
R481H |
probably damaging |
Het |
| Mcm6 |
A |
G |
1: 128,276,192 (GRCm39) |
V331A |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,701,956 (GRCm39) |
Y415C |
probably damaging |
Het |
| Med11 |
T |
C |
11: 70,343,111 (GRCm39) |
S65P |
probably damaging |
Het |
| Metrnl |
T |
A |
11: 121,598,938 (GRCm39) |
S166T |
probably benign |
Het |
| Mllt6 |
A |
G |
11: 97,563,400 (GRCm39) |
K328E |
probably damaging |
Het |
| Nek5 |
T |
C |
8: 22,586,752 (GRCm39) |
K353R |
probably benign |
Het |
| Or52ab4 |
A |
G |
7: 102,988,202 (GRCm39) |
T314A |
probably benign |
Het |
| Or8g52 |
T |
A |
9: 39,630,526 (GRCm39) |
M1K |
probably null |
Het |
| Pfkl |
A |
T |
10: 77,837,856 (GRCm39) |
N46K |
possibly damaging |
Het |
| Phactr3 |
A |
G |
2: 177,944,586 (GRCm39) |
E428G |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,128,902 (GRCm39) |
S3934G |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,429,718 (GRCm39) |
D3312G |
probably benign |
Het |
| Prmt8 |
G |
A |
6: 127,674,701 (GRCm39) |
T309I |
probably benign |
Het |
| Psd3 |
A |
T |
8: 68,413,162 (GRCm39) |
V742E |
possibly damaging |
Het |
| S100a14 |
A |
G |
3: 90,435,157 (GRCm39) |
H56R |
probably damaging |
Het |
| Scaf8 |
T |
A |
17: 3,227,988 (GRCm39) |
S406T |
unknown |
Het |
| Slc26a4 |
G |
T |
12: 31,578,684 (GRCm39) |
H656Q |
probably damaging |
Het |
| Smarcc1 |
T |
C |
9: 110,026,712 (GRCm39) |
V724A |
possibly damaging |
Het |
| Thbs2 |
C |
T |
17: 14,904,333 (GRCm39) |
|
probably null |
Het |
| Zbtb6 |
A |
T |
2: 37,319,227 (GRCm39) |
F234I |
probably benign |
Het |
| Zfp536 |
C |
T |
7: 37,180,053 (GRCm39) |
D851N |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTCTGCCTCAAGCTTTGC -3'
(R):5'- GCCCGTATCTAACACTGTTAGCTC -3'
Sequencing Primer
(F):5'- GCTCTCGTGGTAAGATAACCC -3'
(R):5'- AACACTGTTAGCTCTCGTAATCAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation