Incidental Mutation 'R1454:Aldh3a2'
| ID |
162216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh3a2
|
| Ensembl Gene |
ENSMUSG00000010025 |
| Gene Name |
aldehyde dehydrogenase family 3, subfamily A2 |
| Synonyms |
Ahd3-r, Ahd-3, Aldh4-r, Ahd-3r, Ahd3, Aldh4, FALDH |
| MMRRC Submission |
039509-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R1454 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61114240-61158267 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61155928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 116
(V116A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066277]
[ENSMUST00000074127]
[ENSMUST00000108715]
|
| AlphaFold |
P47740 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066277
AA Change: V116A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000067767
Gene: ENSMUSG00000010025
AA Change: V116A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
1 |
424 |
3.8e-91 |
PFAM |
|
Pfam:LuxC
|
82 |
385 |
3.3e-8 |
PFAM |
|
transmembrane domain
|
463 |
480 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074127
AA Change: V116A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000073764
Gene: ENSMUSG00000010025
AA Change: V116A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
2 |
424 |
5.9e-93 |
PFAM |
|
Pfam:LuxC
|
78 |
385 |
5.9e-9 |
PFAM |
|
transmembrane domain
|
463 |
480 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108715
AA Change: V116A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104355
Gene: ENSMUSG00000010025
AA Change: V116A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
2 |
424 |
4e-93 |
PFAM |
|
Pfam:LuxC
|
78 |
385 |
8.5e-9 |
PFAM |
|
transmembrane domain
|
462 |
484 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128991
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149298
|
| Meta Mutation Damage Score |
0.0867 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.2%
|
| Validation Efficiency |
97% (58/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit impaired long-chain base metabolism, hyperproliferation of keratinocytes, widened intercellular spaces in the basal layer of the epidermis, and delayed barrier recovery after stratum corneum perturbation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
A |
G |
16: 85,666,881 (GRCm39) |
V537A |
possibly damaging |
Het |
| Adcy10 |
A |
T |
1: 165,342,949 (GRCm39) |
I272F |
possibly damaging |
Het |
| Adcy6 |
A |
G |
15: 98,502,609 (GRCm39) |
S2P |
probably damaging |
Het |
| Agap1 |
A |
G |
1: 89,765,528 (GRCm39) |
|
probably null |
Het |
| Ankdd1b |
A |
T |
13: 96,569,913 (GRCm39) |
|
probably null |
Het |
| Antxrl |
G |
A |
14: 33,782,906 (GRCm39) |
V233I |
probably damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,302,590 (GRCm39) |
I38V |
probably benign |
Het |
| Atxn7l2 |
A |
G |
3: 108,115,748 (GRCm39) |
|
probably benign |
Het |
| Bfsp2 |
A |
T |
9: 103,357,424 (GRCm39) |
M1K |
probably null |
Het |
| Camsap3 |
T |
A |
8: 3,653,968 (GRCm39) |
I520N |
possibly damaging |
Het |
| Cenpc1 |
C |
T |
5: 86,161,369 (GRCm39) |
V854I |
possibly damaging |
Het |
| Csnk2a1 |
T |
C |
2: 152,099,347 (GRCm39) |
L88S |
probably damaging |
Het |
| Dcaf17 |
A |
G |
2: 70,903,517 (GRCm39) |
N171D |
probably damaging |
Het |
| Dctn1 |
G |
C |
6: 83,174,490 (GRCm39) |
A1077P |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 134,453,338 (GRCm39) |
|
probably benign |
Het |
| Egfr |
A |
T |
11: 16,839,920 (GRCm39) |
I645L |
probably benign |
Het |
| Gdpd1 |
T |
G |
11: 86,950,335 (GRCm39) |
K79N |
possibly damaging |
Het |
| Ggt5 |
A |
T |
10: 75,445,742 (GRCm39) |
L432F |
probably benign |
Het |
| Gm11060 |
A |
G |
2: 104,924,097 (GRCm39) |
T22A |
unknown |
Het |
| Gpr132 |
G |
A |
12: 112,815,860 (GRCm39) |
T322I |
possibly damaging |
Het |
| Grin1 |
G |
A |
2: 25,182,442 (GRCm39) |
R940* |
probably null |
Het |
| Hip1 |
T |
C |
5: 135,467,486 (GRCm39) |
T316A |
probably benign |
Het |
| Hnrnpm |
A |
G |
17: 33,885,462 (GRCm39) |
|
probably benign |
Het |
| Hsd3b5 |
G |
A |
3: 98,526,846 (GRCm39) |
T200I |
probably benign |
Het |
| Hspa9 |
A |
T |
18: 35,071,659 (GRCm39) |
L647H |
probably damaging |
Het |
| Itgad |
T |
C |
7: 127,791,309 (GRCm39) |
I727T |
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,513,268 (GRCm39) |
D522G |
probably damaging |
Het |
| Lipf |
C |
T |
19: 33,948,132 (GRCm39) |
|
probably benign |
Het |
| Ly6i |
T |
C |
15: 74,854,904 (GRCm39) |
D2G |
possibly damaging |
Het |
| Mast1 |
G |
A |
8: 85,647,264 (GRCm39) |
P631L |
probably damaging |
Het |
| Mmp1b |
G |
C |
9: 7,386,693 (GRCm39) |
L144V |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,292,186 (GRCm39) |
S314G |
probably benign |
Het |
| Myo5c |
G |
A |
9: 75,170,348 (GRCm39) |
V493I |
possibly damaging |
Het |
| Nefm |
A |
G |
14: 68,358,828 (GRCm39) |
L402P |
probably damaging |
Het |
| Nrxn2 |
T |
C |
19: 6,531,476 (GRCm39) |
F697S |
probably damaging |
Het |
| Or13c7b |
A |
T |
4: 43,820,639 (GRCm39) |
C241S |
probably damaging |
Het |
| Pex13 |
A |
G |
11: 23,599,422 (GRCm39) |
I363T |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,932,414 (GRCm39) |
R1082G |
possibly damaging |
Het |
| Psg28 |
A |
T |
7: 18,161,889 (GRCm39) |
S205T |
possibly damaging |
Het |
| Pxt1 |
C |
A |
17: 29,153,756 (GRCm39) |
V26L |
possibly damaging |
Het |
| Ripk2 |
G |
A |
4: 16,163,239 (GRCm39) |
T53M |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,741,161 (GRCm39) |
V495A |
probably benign |
Het |
| Snrpa |
T |
C |
7: 26,892,362 (GRCm39) |
K66R |
probably benign |
Het |
| Srgap1 |
T |
A |
10: 121,732,643 (GRCm39) |
E145V |
probably damaging |
Het |
| Suz12 |
A |
G |
11: 79,922,939 (GRCm39) |
T694A |
probably benign |
Het |
| Tatdn2 |
T |
A |
6: 113,681,288 (GRCm39) |
D440E |
probably benign |
Het |
| Tbc1d21 |
A |
G |
9: 58,270,096 (GRCm39) |
|
probably null |
Het |
| Tbc1d31 |
T |
A |
15: 57,815,034 (GRCm39) |
Y570* |
probably null |
Het |
| Tbc1d32 |
A |
T |
10: 56,053,575 (GRCm39) |
|
probably benign |
Het |
| Tdrd5 |
G |
C |
1: 156,087,406 (GRCm39) |
Q839E |
probably benign |
Het |
| Tecpr2 |
A |
G |
12: 110,935,387 (GRCm39) |
N1402S |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,953,153 (GRCm39) |
D921G |
probably damaging |
Het |
| Tll1 |
A |
G |
8: 64,491,524 (GRCm39) |
V803A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trpm4 |
T |
C |
7: 44,966,480 (GRCm39) |
E461G |
probably damaging |
Het |
| Zp3 |
T |
A |
5: 136,013,042 (GRCm39) |
I152N |
probably damaging |
Het |
|
| Other mutations in Aldh3a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00941:Aldh3a2
|
APN |
11 |
61,153,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01374:Aldh3a2
|
APN |
11 |
61,139,828 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01514:Aldh3a2
|
APN |
11 |
61,144,624 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01633:Aldh3a2
|
APN |
11 |
61,139,731 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL03153:Aldh3a2
|
APN |
11 |
61,149,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0095:Aldh3a2
|
UTSW |
11 |
61,141,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0126:Aldh3a2
|
UTSW |
11 |
61,115,384 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0164:Aldh3a2
|
UTSW |
11 |
61,139,714 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0164:Aldh3a2
|
UTSW |
11 |
61,139,714 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0646:Aldh3a2
|
UTSW |
11 |
61,144,541 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0699:Aldh3a2
|
UTSW |
11 |
61,153,148 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1398:Aldh3a2
|
UTSW |
11 |
61,147,562 (GRCm39) |
splice site |
probably null |
|
|
R1443:Aldh3a2
|
UTSW |
11 |
61,155,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1551:Aldh3a2
|
UTSW |
11 |
61,144,470 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1557:Aldh3a2
|
UTSW |
11 |
61,139,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1701:Aldh3a2
|
UTSW |
11 |
61,147,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3808:Aldh3a2
|
UTSW |
11 |
61,149,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4871:Aldh3a2
|
UTSW |
11 |
61,153,065 (GRCm39) |
nonsense |
probably null |
|
|
R5304:Aldh3a2
|
UTSW |
11 |
61,144,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6318:Aldh3a2
|
UTSW |
11 |
61,153,245 (GRCm39) |
nonsense |
probably null |
|
|
R6759:Aldh3a2
|
UTSW |
11 |
61,156,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6768:Aldh3a2
|
UTSW |
11 |
61,144,536 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7939:Aldh3a2
|
UTSW |
11 |
61,115,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8803:Aldh3a2
|
UTSW |
11 |
61,139,756 (GRCm39) |
missense |
probably benign |
|
|
R9130:Aldh3a2
|
UTSW |
11 |
61,139,758 (GRCm39) |
missense |
probably benign |
|
|
R9223:Aldh3a2
|
UTSW |
11 |
61,156,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9265:Aldh3a2
|
UTSW |
11 |
61,153,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Aldh3a2
|
UTSW |
11 |
61,155,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTGCTGCTGCCGACCACTAGAG -3'
(R):5'- GGTCTGAGCGTTGTGACATCCTAAG -3'
Sequencing Primer
(F):5'- GCCGACCACTAGAGAAAATGTATTC -3'
(R):5'- gcagccaccctccaaac -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation