Incidental Mutation 'R1385:Aldh7a1'
| ID |
163245 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh7a1
|
| Ensembl Gene |
ENSMUSG00000053644 |
| Gene Name |
aldehyde dehydrogenase family 7, member A1 |
| Synonyms |
D18Wsu181e, Atq1 |
| MMRRC Submission |
039447-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R1385 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
56657794-56706112 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56675357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 269
(S269P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066208]
[ENSMUST00000172734]
[ENSMUST00000174518]
[ENSMUST00000174704]
|
| AlphaFold |
Q9DBF1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066208
AA Change: S271P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065089
Gene: ENSMUSG00000053644
AA Change: S271P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
59 |
522 |
1.2e-130 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168517
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170309
|
| SMART Domains |
Protein: ENSMUSP00000127625
Gene: ENSMUSG00000053644
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
60 |
155 |
7.3e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171851
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172734
AA Change: S271P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134192
Gene: ENSMUSG00000053644
AA Change: S271P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
59 |
340 |
6.3e-74 |
PFAM |
|
Pfam:Aldedh
|
338 |
458 |
3.2e-31 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174518
AA Change: S243P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133372
Gene: ENSMUSG00000053644
AA Change: S243P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
31 |
494 |
7.3e-130 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174704
AA Change: S269P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133970
Gene: ENSMUSG00000053644
AA Change: S269P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
57 |
293 |
1.4e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183892
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arf3 |
A |
G |
15: 98,640,494 (GRCm39) |
V43A |
probably damaging |
Het |
| Arhgap1 |
C |
A |
2: 91,501,176 (GRCm39) |
N457K |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Bltp3b |
A |
G |
10: 89,626,503 (GRCm39) |
N399S |
possibly damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,875,561 (GRCm39) |
E544K |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,291,138 (GRCm39) |
E1546G |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,838,861 (GRCm39) |
I900V |
probably benign |
Het |
| Edem1 |
A |
G |
6: 108,823,645 (GRCm39) |
N347S |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,544,251 (GRCm39) |
I112T |
probably benign |
Het |
| Gemin2 |
A |
G |
12: 59,064,932 (GRCm39) |
|
probably null |
Het |
| Hunk |
T |
A |
16: 90,269,374 (GRCm39) |
V306E |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,249,836 (GRCm39) |
I2260V |
probably benign |
Het |
| Insyn1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
9: 58,406,715 (GRCm39) |
|
probably benign |
Het |
| Itgbl1 |
A |
G |
14: 123,898,923 (GRCm39) |
|
probably null |
Het |
| Iws1 |
T |
A |
18: 32,223,483 (GRCm39) |
N630K |
probably benign |
Het |
| Lama2 |
C |
A |
10: 27,100,039 (GRCm39) |
R822L |
probably benign |
Het |
| Lrrc56 |
A |
G |
7: 140,785,438 (GRCm39) |
D130G |
probably damaging |
Het |
| Mageb11 |
T |
A |
X: 89,935,874 (GRCm39) |
C43S |
probably benign |
Het |
| Malrd1 |
A |
T |
2: 16,047,039 (GRCm39) |
I1722F |
unknown |
Het |
| Mark4 |
G |
T |
7: 19,159,952 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
C |
7: 141,415,874 (GRCm39) |
V2940A |
probably benign |
Het |
| Mxd1 |
T |
A |
6: 86,628,549 (GRCm39) |
Q62L |
probably damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,150,078 (GRCm39) |
S917T |
probably benign |
Het |
| Nr2c2 |
T |
G |
6: 92,131,451 (GRCm39) |
F171C |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,102,356 (GRCm39) |
Q675L |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Ocstamp |
T |
C |
2: 165,237,959 (GRCm39) |
D435G |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,411,108 (GRCm39) |
T553A |
probably benign |
Het |
| Pllp |
A |
G |
8: 95,405,996 (GRCm39) |
Y96H |
probably benign |
Het |
| Polg2 |
A |
G |
11: 106,659,149 (GRCm39) |
S455P |
probably damaging |
Het |
| Ppp1r9b |
A |
G |
11: 94,883,037 (GRCm39) |
T222A |
probably benign |
Het |
| Prkcd |
G |
A |
14: 30,329,362 (GRCm39) |
T26I |
probably damaging |
Het |
| Prkcq |
A |
G |
2: 11,261,097 (GRCm39) |
H383R |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,102,312 (GRCm39) |
I2490M |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Scn9a |
G |
A |
2: 66,393,886 (GRCm39) |
P229L |
probably damaging |
Het |
| Serpinb5 |
A |
G |
1: 106,803,853 (GRCm39) |
T180A |
probably damaging |
Het |
| Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
| Sphk2 |
A |
G |
7: 45,361,715 (GRCm39) |
I82T |
probably damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Treml1 |
T |
G |
17: 48,667,226 (GRCm39) |
V37G |
probably damaging |
Het |
| Trim33 |
A |
G |
3: 103,218,266 (GRCm39) |
K272E |
possibly damaging |
Het |
| Trpv6 |
T |
C |
6: 41,598,063 (GRCm39) |
D748G |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,129,923 (GRCm39) |
H681R |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,325 (GRCm39) |
R775* |
probably null |
Het |
| Xpo1 |
T |
C |
11: 23,211,863 (GRCm39) |
L8S |
probably damaging |
Het |
| Zfand4 |
G |
A |
6: 116,250,599 (GRCm39) |
G10R |
probably damaging |
Het |
| Zfp119a |
T |
A |
17: 56,172,826 (GRCm39) |
H339L |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
|
| Other mutations in Aldh7a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02690:Aldh7a1
|
APN |
18 |
56,661,427 (GRCm39) |
splice site |
probably benign |
|
|
IGL02887:Aldh7a1
|
APN |
18 |
56,675,288 (GRCm39) |
intron |
probably benign |
|
|
R0462:Aldh7a1
|
UTSW |
18 |
56,667,286 (GRCm39) |
splice site |
probably null |
|
|
R0595:Aldh7a1
|
UTSW |
18 |
56,679,965 (GRCm39) |
splice site |
probably benign |
|
|
R0657:Aldh7a1
|
UTSW |
18 |
56,670,269 (GRCm39) |
splice site |
probably benign |
|
|
R0947:Aldh7a1
|
UTSW |
18 |
56,693,910 (GRCm39) |
splice site |
probably null |
|
|
R1295:Aldh7a1
|
UTSW |
18 |
56,680,022 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1403:Aldh7a1
|
UTSW |
18 |
56,692,341 (GRCm39) |
nonsense |
probably null |
|
|
R1403:Aldh7a1
|
UTSW |
18 |
56,692,341 (GRCm39) |
nonsense |
probably null |
|
|
R1517:Aldh7a1
|
UTSW |
18 |
56,665,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1550:Aldh7a1
|
UTSW |
18 |
56,683,454 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R3552:Aldh7a1
|
UTSW |
18 |
56,683,364 (GRCm39) |
splice site |
probably null |
|
|
R3953:Aldh7a1
|
UTSW |
18 |
56,681,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4124:Aldh7a1
|
UTSW |
18 |
56,670,395 (GRCm39) |
intron |
probably benign |
|
|
R4296:Aldh7a1
|
UTSW |
18 |
56,678,035 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4355:Aldh7a1
|
UTSW |
18 |
56,681,566 (GRCm39) |
missense |
probably null |
0.09 |
|
R4549:Aldh7a1
|
UTSW |
18 |
56,665,066 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4851:Aldh7a1
|
UTSW |
18 |
56,665,088 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5288:Aldh7a1
|
UTSW |
18 |
56,667,325 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5384:Aldh7a1
|
UTSW |
18 |
56,667,325 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5385:Aldh7a1
|
UTSW |
18 |
56,667,325 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5547:Aldh7a1
|
UTSW |
18 |
56,661,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6505:Aldh7a1
|
UTSW |
18 |
56,660,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7373:Aldh7a1
|
UTSW |
18 |
56,675,389 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7861:Aldh7a1
|
UTSW |
18 |
56,681,525 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8205:Aldh7a1
|
UTSW |
18 |
56,678,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8925:Aldh7a1
|
UTSW |
18 |
56,660,060 (GRCm39) |
missense |
probably benign |
|
|
R8927:Aldh7a1
|
UTSW |
18 |
56,660,060 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Aldh7a1
|
UTSW |
18 |
56,660,063 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTCAGTTCCAACTGTAAGCGTCC -3'
(R):5'- TCACAGAACAGGTCAGCCAGCTTC -3'
Sequencing Primer
(F):5'- ttgtttggtttggtttggtttg -3'
(R):5'- GTCAGCCAGCTTCCTGTG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation