Incidental Mutation 'R6387:Aldh1a1'
| ID |
514685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh1a1
|
| Ensembl Gene |
ENSMUSG00000053279 |
| Gene Name |
aldehyde dehydrogenase family 1, subfamily A1 |
| Synonyms |
Ahd-2, Ahd2, ALDH1, E1, Raldh1 |
| MMRRC Submission |
044536-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R6387 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
20470079-20620829 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20595323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 84
(E84G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087638]
[ENSMUST00000225313]
[ENSMUST00000225337]
|
| AlphaFold |
P24549 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087638
AA Change: E84G
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000084918
Gene: ENSMUSG00000053279
AA Change: E84G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
29 |
492 |
5.1e-185 |
PFAM |
|
Pfam:LuxC
|
147 |
368 |
2.4e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225313
AA Change: E84G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225337
AA Change: E84G
PolyPhen 2
Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.1501 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a disruption in this gene show a significantly reduced ability to convert retinol to retinoic acid in the liver. Retinal morphology is normal even though the gene is normally highly expressed in the dorsal retina. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
T |
C |
5: 109,884,881 (GRCm39) |
K326E |
possibly damaging |
Het |
| Acot1 |
A |
G |
12: 84,056,627 (GRCm39) |
D115G |
probably benign |
Het |
| Adm |
T |
C |
7: 110,227,502 (GRCm39) |
I6T |
possibly damaging |
Het |
| Ahi1 |
A |
G |
10: 20,844,942 (GRCm39) |
Y349C |
probably damaging |
Het |
| Ankrd31 |
A |
G |
13: 96,967,081 (GRCm39) |
D520G |
probably damaging |
Het |
| Ano4 |
A |
T |
10: 88,807,267 (GRCm39) |
Y736* |
probably null |
Het |
| Atp6v1a |
A |
G |
16: 43,907,806 (GRCm39) |
F612S |
possibly damaging |
Het |
| Bltp3b |
C |
T |
10: 89,638,919 (GRCm39) |
Q442* |
probably null |
Het |
| Calcb |
G |
A |
7: 114,319,025 (GRCm39) |
V17I |
possibly damaging |
Het |
| Cfap70 |
C |
T |
14: 20,498,643 (GRCm39) |
V15M |
probably damaging |
Het |
| Chad |
C |
T |
11: 94,458,663 (GRCm39) |
H271Y |
possibly damaging |
Het |
| Csgalnact1 |
C |
T |
8: 68,811,365 (GRCm39) |
G435D |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Eprs1 |
T |
A |
1: 185,119,281 (GRCm39) |
M487K |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,037,934 (GRCm39) |
E3862G |
probably damaging |
Het |
| Gdf10 |
T |
A |
14: 33,645,961 (GRCm39) |
S37T |
probably benign |
Het |
| Hhatl |
T |
A |
9: 121,619,467 (GRCm39) |
H39L |
probably benign |
Het |
| Icam4 |
A |
C |
9: 20,941,505 (GRCm39) |
S215R |
possibly damaging |
Het |
| Ighv1-18 |
T |
C |
12: 114,646,280 (GRCm39) |
E108G |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,744,920 (GRCm39) |
I416T |
probably benign |
Het |
| Marf1 |
T |
A |
16: 13,959,504 (GRCm39) |
*577L |
probably null |
Het |
| Mark2 |
A |
G |
19: 7,263,267 (GRCm39) |
F167L |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,299,946 (GRCm39) |
T351A |
possibly damaging |
Het |
| Mrps27 |
A |
G |
13: 99,536,825 (GRCm39) |
I113V |
possibly damaging |
Het |
| Numbl |
C |
T |
7: 26,976,115 (GRCm39) |
T265I |
probably damaging |
Het |
| Obsl1 |
C |
T |
1: 75,468,006 (GRCm39) |
A1296T |
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,912,148 (GRCm39) |
I125T |
probably damaging |
Het |
| Pcdhb21 |
A |
G |
18: 37,648,385 (GRCm39) |
I505V |
probably benign |
Het |
| Pfas |
A |
G |
11: 68,891,291 (GRCm39) |
F269L |
probably damaging |
Het |
| Prkdc |
G |
A |
16: 15,516,679 (GRCm39) |
V1018I |
probably benign |
Het |
| Prl4a1 |
T |
A |
13: 28,202,482 (GRCm39) |
V19E |
possibly damaging |
Het |
| Ptpn22 |
A |
G |
3: 103,792,702 (GRCm39) |
D327G |
probably benign |
Het |
| Smad3 |
G |
T |
9: 63,562,047 (GRCm39) |
D310E |
probably benign |
Het |
| Sparcl1 |
T |
A |
5: 104,232,926 (GRCm39) |
D625V |
probably damaging |
Het |
| Spta1 |
G |
A |
1: 174,058,899 (GRCm39) |
A1945T |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Sympk |
T |
C |
7: 18,786,423 (GRCm39) |
Y1009H |
possibly damaging |
Het |
| Trio |
A |
G |
15: 27,752,825 (GRCm39) |
F1026L |
probably damaging |
Het |
| Unc5d |
T |
A |
8: 29,365,554 (GRCm39) |
K144* |
probably null |
Het |
| Unk |
A |
G |
11: 115,945,766 (GRCm39) |
N479S |
possibly damaging |
Het |
| Zfp710 |
T |
C |
7: 79,735,775 (GRCm39) |
I514T |
probably damaging |
Het |
| Zfp993 |
A |
G |
4: 146,741,975 (GRCm39) |
T100A |
probably damaging |
Het |
|
| Other mutations in Aldh1a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00916:Aldh1a1
|
APN |
19 |
20,597,361 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01769:Aldh1a1
|
APN |
19 |
20,620,283 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02745:Aldh1a1
|
APN |
19 |
20,614,028 (GRCm39) |
splice site |
probably benign |
|
|
IGL02989:Aldh1a1
|
APN |
19 |
20,617,422 (GRCm39) |
splice site |
probably benign |
|
|
IGL03154:Aldh1a1
|
APN |
19 |
20,608,132 (GRCm39) |
missense |
probably benign |
0.21 |
|
LCD18:Aldh1a1
|
UTSW |
19 |
20,604,010 (GRCm39) |
intron |
probably benign |
|
|
R0265:Aldh1a1
|
UTSW |
19 |
20,617,440 (GRCm39) |
nonsense |
probably null |
|
|
R0282:Aldh1a1
|
UTSW |
19 |
20,606,413 (GRCm39) |
splice site |
probably benign |
|
|
R0418:Aldh1a1
|
UTSW |
19 |
20,606,413 (GRCm39) |
splice site |
probably benign |
|
|
R0471:Aldh1a1
|
UTSW |
19 |
20,579,377 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R0556:Aldh1a1
|
UTSW |
19 |
20,611,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0755:Aldh1a1
|
UTSW |
19 |
20,595,358 (GRCm39) |
missense |
probably benign |
|
|
R1164:Aldh1a1
|
UTSW |
19 |
20,595,310 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1692:Aldh1a1
|
UTSW |
19 |
20,608,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1905:Aldh1a1
|
UTSW |
19 |
20,595,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2127:Aldh1a1
|
UTSW |
19 |
20,620,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2281:Aldh1a1
|
UTSW |
19 |
20,597,455 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2475:Aldh1a1
|
UTSW |
19 |
20,617,442 (GRCm39) |
missense |
probably benign |
|
|
R3871:Aldh1a1
|
UTSW |
19 |
20,602,117 (GRCm39) |
nonsense |
probably null |
|
|
R4607:Aldh1a1
|
UTSW |
19 |
20,599,051 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4725:Aldh1a1
|
UTSW |
19 |
20,617,445 (GRCm39) |
missense |
probably benign |
|
|
R4791:Aldh1a1
|
UTSW |
19 |
20,597,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4792:Aldh1a1
|
UTSW |
19 |
20,597,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4844:Aldh1a1
|
UTSW |
19 |
20,611,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5639:Aldh1a1
|
UTSW |
19 |
20,600,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5669:Aldh1a1
|
UTSW |
19 |
20,588,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5815:Aldh1a1
|
UTSW |
19 |
20,608,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7078:Aldh1a1
|
UTSW |
19 |
20,579,434 (GRCm39) |
missense |
probably benign |
|
|
R7282:Aldh1a1
|
UTSW |
19 |
20,606,434 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7334:Aldh1a1
|
UTSW |
19 |
20,599,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7578:Aldh1a1
|
UTSW |
19 |
20,595,366 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7920:Aldh1a1
|
UTSW |
19 |
20,595,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8745:Aldh1a1
|
UTSW |
19 |
20,611,807 (GRCm39) |
missense |
probably benign |
|
|
R8854:Aldh1a1
|
UTSW |
19 |
20,588,297 (GRCm39) |
nonsense |
probably null |
|
|
R9344:Aldh1a1
|
UTSW |
19 |
20,608,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9556:Aldh1a1
|
UTSW |
19 |
20,600,756 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9581:Aldh1a1
|
UTSW |
19 |
20,597,417 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9638:Aldh1a1
|
UTSW |
19 |
20,614,100 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATTTCGGGCTAATGGACC -3'
(R):5'- CTCTGCAAGTTCTAGAGAAAACG -3'
Sequencing Primer
(F):5'- CGGGCTAATGGACCTTCTG -3'
(R):5'- CGCAAGATGGTTGACCGTG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation