Incidental Mutation 'R4016:Aldh8a1'
| ID |
311949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh8a1
|
| Ensembl Gene |
ENSMUSG00000037542 |
| Gene Name |
aldehyde dehydrogenase 8 family, member A1 |
| Synonyms |
RALDH4 |
| MMRRC Submission |
040847-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R4016 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
21377291-21396585 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 21395571 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 399
(V399I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042699]
|
| AlphaFold |
Q8BH00 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042699
AA Change: V399I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000038878
Gene: ENSMUSG00000037542
AA Change: V399I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
19 |
483 |
8.6e-170 |
PFAM |
|
| Meta Mutation Damage Score |
0.1109 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (49/49) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apold1 |
A |
G |
6: 134,983,906 (GRCm38) |
I108V |
probably benign |
Het |
| Arpc5 |
G |
A |
1: 152,768,856 (GRCm38) |
|
probably benign |
Het |
| Capn11 |
T |
A |
17: 45,653,756 (GRCm38) |
D45V |
probably damaging |
Het |
| Dctpp1 |
G |
A |
7: 127,257,113 (GRCm38) |
R146C |
probably damaging |
Het |
| Dlat |
C |
T |
9: 50,649,631 (GRCm38) |
|
probably null |
Het |
| Dock10 |
T |
A |
1: 80,606,569 (GRCm38) |
D140V |
probably damaging |
Het |
| Dtx3 |
A |
G |
10: 127,191,171 (GRCm38) |
V378A |
probably benign |
Het |
| Ezh2 |
A |
G |
6: 47,544,582 (GRCm38) |
I414T |
probably benign |
Het |
| Gm1979 |
C |
T |
5: 26,004,606 (GRCm38) |
W41* |
probably null |
Het |
| Igf2bp2 |
T |
C |
16: 22,063,676 (GRCm38) |
N425S |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,394,106 (GRCm38) |
Y504N |
probably damaging |
Het |
| Map3k21 |
T |
A |
8: 125,911,185 (GRCm38) |
I170N |
probably damaging |
Het |
| Mrgpra6 |
C |
A |
7: 47,188,715 (GRCm38) |
C245F |
possibly damaging |
Het |
| Nipal2 |
T |
G |
15: 34,600,061 (GRCm38) |
K203N |
possibly damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,173,085 (GRCm38) |
F621S |
probably damaging |
Het |
| Nos3 |
G |
A |
5: 24,371,716 (GRCm38) |
V448M |
probably damaging |
Het |
| Ntrk3 |
G |
T |
7: 78,462,947 (GRCm38) |
|
probably benign |
Het |
| Or5b118 |
A |
T |
19: 13,471,197 (GRCm38) |
T76S |
possibly damaging |
Het |
| P2rx1 |
T |
C |
11: 73,009,973 (GRCm38) |
C190R |
probably damaging |
Het |
| Pdzrn4 |
T |
A |
15: 92,399,749 (GRCm38) |
D198E |
probably benign |
Het |
| Ptar1 |
A |
G |
19: 23,687,460 (GRCm38) |
M1V |
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,524,959 (GRCm38) |
E944A |
probably benign |
Het |
| Purg |
T |
A |
8: 33,386,991 (GRCm38) |
L219* |
probably null |
Het |
| Rbp3 |
G |
T |
14: 33,955,390 (GRCm38) |
V432L |
possibly damaging |
Het |
| Scnn1b |
G |
T |
7: 121,914,332 (GRCm38) |
|
probably null |
Het |
| Sgms1 |
A |
G |
19: 32,142,792 (GRCm38) |
V238A |
possibly damaging |
Het |
| Slc16a14 |
G |
T |
1: 84,912,507 (GRCm38) |
S359* |
probably null |
Het |
| Smarca2 |
G |
A |
19: 26,683,927 (GRCm38) |
|
probably null |
Het |
| Spatc1l |
A |
G |
10: 76,562,489 (GRCm38) |
S42G |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,135,190 (GRCm38) |
V34E |
probably damaging |
Het |
| Tex14 |
A |
G |
11: 87,538,623 (GRCm38) |
|
probably null |
Het |
| Tox4 |
T |
C |
14: 52,285,904 (GRCm38) |
|
probably null |
Het |
| Tyr |
A |
G |
7: 87,437,940 (GRCm38) |
S455P |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,026,433 (GRCm38) |
N1062D |
possibly damaging |
Het |
| Umod |
A |
C |
7: 119,476,690 (GRCm38) |
N284K |
possibly damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,943,572 (GRCm38) |
I338T |
probably damaging |
Het |
| Vmn2r99 |
C |
T |
17: 19,378,570 (GRCm38) |
T172I |
possibly damaging |
Het |
| Whrn |
G |
A |
4: 63,415,639 (GRCm38) |
Q415* |
probably null |
Het |
|
| Other mutations in Aldh8a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00807:Aldh8a1
|
APN |
10 |
21,395,430 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01095:Aldh8a1
|
APN |
10 |
21,389,281 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL01525:Aldh8a1
|
APN |
10 |
21,391,573 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02206:Aldh8a1
|
APN |
10 |
21,395,575 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02232:Aldh8a1
|
APN |
10 |
21,395,646 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03213:Aldh8a1
|
APN |
10 |
21,384,717 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0105:Aldh8a1
|
UTSW |
10 |
21,395,539 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0105:Aldh8a1
|
UTSW |
10 |
21,395,539 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0893:Aldh8a1
|
UTSW |
10 |
21,391,694 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1168:Aldh8a1
|
UTSW |
10 |
21,384,631 (GRCm38) |
splice site |
probably null |
|
|
R1764:Aldh8a1
|
UTSW |
10 |
21,395,493 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4464:Aldh8a1
|
UTSW |
10 |
21,388,941 (GRCm38) |
intron |
probably benign |
|
|
R4915:Aldh8a1
|
UTSW |
10 |
21,395,763 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5816:Aldh8a1
|
UTSW |
10 |
21,395,430 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6032:Aldh8a1
|
UTSW |
10 |
21,389,071 (GRCm38) |
missense |
probably benign |
0.29 |
|
R6032:Aldh8a1
|
UTSW |
10 |
21,389,071 (GRCm38) |
missense |
probably benign |
0.29 |
|
R6581:Aldh8a1
|
UTSW |
10 |
21,380,842 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7422:Aldh8a1
|
UTSW |
10 |
21,389,097 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R7458:Aldh8a1
|
UTSW |
10 |
21,395,593 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7574:Aldh8a1
|
UTSW |
10 |
21,380,830 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R8014:Aldh8a1
|
UTSW |
10 |
21,389,302 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8150:Aldh8a1
|
UTSW |
10 |
21,395,545 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8151:Aldh8a1
|
UTSW |
10 |
21,395,566 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8160:Aldh8a1
|
UTSW |
10 |
21,395,791 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9058:Aldh8a1
|
UTSW |
10 |
21,382,445 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R9250:Aldh8a1
|
UTSW |
10 |
21,382,360 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9451:Aldh8a1
|
UTSW |
10 |
21,389,133 (GRCm38) |
missense |
probably benign |
|
|
R9578:Aldh8a1
|
UTSW |
10 |
21,377,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0011:Aldh8a1
|
UTSW |
10 |
21,389,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTTGAAAGCTCAGACTGAGGG -3'
(R):5'- AGTCATATGAGTCCTTGGCTCC -3'
Sequencing Primer
(F):5'- TGAGGGTGCCCGGATTCTC -3'
(R):5'- GAGCTCTTCATCCCTCCAAAGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation