Incidental Mutation 'R3808:Aldh3a2'
| ID |
275051 |
| 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 |
040765-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R3808 (G1)
|
| Quality Score |
206 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
61114240-61158267 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 61149623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 248
(L248M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066277]
[ENSMUST00000074127]
[ENSMUST00000108715]
|
| AlphaFold |
P47740 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066277
AA Change: L248M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000067767
Gene: ENSMUSG00000010025
AA Change: L248M
| 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 damaging
Transcript: ENSMUST00000074127
AA Change: L248M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000073764
Gene: ENSMUSG00000010025
AA Change: L248M
| 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 damaging
Transcript: ENSMUST00000108715
AA Change: L248M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104355
Gene: ENSMUSG00000010025
AA Change: L248M
| 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: ENSMUST00000141368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147291
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Als2 |
A |
G |
1: 59,209,609 (GRCm39) |
S1458P |
probably benign |
Het |
| Aoc1l3 |
C |
T |
6: 48,964,928 (GRCm39) |
P312L |
possibly damaging |
Het |
| Arhgap5 |
A |
G |
12: 52,613,970 (GRCm39) |
E192G |
possibly damaging |
Het |
| Atg2a |
A |
G |
19: 6,302,846 (GRCm39) |
K1019R |
possibly damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,839,010 (GRCm39) |
K613E |
possibly damaging |
Het |
| Carm1 |
T |
C |
9: 21,498,258 (GRCm39) |
C421R |
probably damaging |
Het |
| Cdh17 |
A |
T |
4: 11,795,671 (GRCm39) |
Y417F |
probably damaging |
Het |
| Cers1 |
A |
G |
8: 70,782,660 (GRCm39) |
D10G |
possibly damaging |
Het |
| Clptm1l |
A |
C |
13: 73,760,573 (GRCm39) |
M319L |
probably benign |
Het |
| Cntnap3 |
A |
G |
13: 64,929,618 (GRCm39) |
V527A |
probably damaging |
Het |
| Creb3l2 |
A |
G |
6: 37,332,625 (GRCm39) |
S290P |
probably damaging |
Het |
| Dock4 |
T |
G |
12: 40,722,809 (GRCm39) |
V305G |
probably damaging |
Het |
| Dtl |
A |
C |
1: 191,280,466 (GRCm39) |
L356R |
probably damaging |
Het |
| Eftud2 |
A |
T |
11: 102,732,289 (GRCm39) |
|
probably null |
Het |
| Eif2b4 |
A |
G |
5: 31,348,512 (GRCm39) |
S88P |
possibly damaging |
Het |
| Fat4 |
T |
G |
3: 39,036,587 (GRCm39) |
V3413G |
possibly damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,801,578 (GRCm39) |
M218V |
probably benign |
Het |
| Grin2b |
A |
G |
6: 135,900,269 (GRCm39) |
L204P |
probably damaging |
Het |
| Kcnj12 |
A |
G |
11: 60,961,103 (GRCm39) |
N467S |
probably benign |
Het |
| Klhdc3 |
T |
A |
17: 46,988,858 (GRCm39) |
N111Y |
possibly damaging |
Het |
| Lin9 |
A |
G |
1: 180,486,676 (GRCm39) |
I81V |
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,331,892 (GRCm39) |
D1621G |
probably damaging |
Het |
| Lrp4 |
T |
A |
2: 91,307,047 (GRCm39) |
D389E |
probably damaging |
Het |
| Med15 |
C |
T |
16: 17,473,598 (GRCm39) |
|
probably benign |
Het |
| Nbea |
T |
C |
3: 55,625,269 (GRCm39) |
N2274S |
probably benign |
Het |
| Nr3c2 |
G |
A |
8: 77,635,343 (GRCm39) |
G148D |
probably damaging |
Het |
| Or10s1 |
A |
T |
9: 39,985,605 (GRCm39) |
M5L |
probably benign |
Het |
| Or14j6 |
T |
C |
17: 38,214,464 (GRCm39) |
V9A |
probably benign |
Het |
| Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
| Paxip1 |
A |
G |
5: 27,977,027 (GRCm39) |
|
probably benign |
Het |
| Pfas |
T |
C |
11: 68,880,779 (GRCm39) |
|
probably benign |
Het |
| Plin3 |
C |
A |
17: 56,593,275 (GRCm39) |
A96S |
probably damaging |
Het |
| Pnck |
T |
A |
X: 72,700,550 (GRCm39) |
I288F |
probably damaging |
Het |
| Ppp4c |
C |
T |
7: 126,386,499 (GRCm39) |
G166D |
probably damaging |
Het |
| Prss43 |
A |
T |
9: 110,656,840 (GRCm39) |
R115S |
probably damaging |
Het |
| Rassf2 |
T |
C |
2: 131,840,180 (GRCm39) |
|
probably null |
Het |
| Rdh16f1 |
T |
A |
10: 127,624,568 (GRCm39) |
D135E |
probably benign |
Het |
| Rdh16f1 |
G |
A |
10: 127,624,569 (GRCm39) |
V136M |
probably damaging |
Het |
| Rgs12 |
A |
G |
5: 35,189,698 (GRCm39) |
E702G |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,370,384 (GRCm39) |
K4728E |
probably damaging |
Het |
| Ros1 |
T |
G |
10: 51,996,944 (GRCm39) |
T1243P |
probably benign |
Het |
| Sall1 |
G |
A |
8: 89,758,101 (GRCm39) |
Q668* |
probably null |
Het |
| Sbf2 |
C |
A |
7: 110,088,487 (GRCm39) |
*45L |
probably null |
Het |
| Serpina3j |
A |
T |
12: 104,286,086 (GRCm39) |
I414F |
probably benign |
Het |
| Sh2d3c |
T |
C |
2: 32,636,108 (GRCm39) |
Y159H |
probably damaging |
Het |
| Slamf1 |
A |
G |
1: 171,625,745 (GRCm39) |
D307G |
probably null |
Het |
| Slc22a13 |
T |
C |
9: 119,025,143 (GRCm39) |
T178A |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,736,536 (GRCm39) |
L588H |
probably damaging |
Het |
| Trim12a |
G |
A |
7: 103,956,201 (GRCm39) |
A113V |
probably benign |
Het |
| Vil1 |
T |
C |
1: 74,466,772 (GRCm39) |
V654A |
probably benign |
Het |
| Vmn1r202 |
T |
C |
13: 22,686,070 (GRCm39) |
T116A |
possibly damaging |
Het |
| Zfp267 |
T |
G |
3: 36,219,792 (GRCm39) |
|
probably null |
Het |
| Zfp607a |
G |
A |
7: 27,578,826 (GRCm39) |
R632H |
probably benign |
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 |
|
R1454:Aldh3a2
|
UTSW |
11 |
61,155,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- TGAATGCAGTCACACGTGTG -3'
(R):5'- TCCATTGGAAGACATTAAAATGGAAA -3'
Sequencing Primer
(F):5'- ACACGTGTGACTGGGGTTGTC -3'
(R):5'- AGCACTCTTGGTTAAGAAGCTGC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation