Incidental Mutation 'IGL02469:Aldh4a1'
| ID |
294669 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aldh4a1
|
| Ensembl Gene |
ENSMUSG00000028737 |
| Gene Name |
aldehyde dehydrogenase 4 family, member A1 |
| Synonyms |
P5CDH, Ahd-1, A930035F14Rik, ALDH4, Ssdh1, Ahd1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL02469
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
139350177-139377001 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 139375472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 527
(T527I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039818]
[ENSMUST00000178644]
|
| AlphaFold |
Q8CHT0 |
| PDB Structure |
Crystal structure of mouse 1-pyrroline-5-carboxylate dehydrogenase complexed with sulfate ion [X-RAY DIFFRACTION]
Crystal structure of mouse 1-pyrroline-5-carboxylate dehydrogenase complexed with the product glutamate [X-RAY DIFFRACTION]
Crystal structure of mouse 1-pyrroline-5-carboxylate dehydrogenase complexed with NAD+ [X-RAY DIFFRACTION]
Crystal Structure of Mus musculus 1-pyrroline-5-carboxylate dehydrogenase cryoprotected in proline [X-RAY DIFFRACTION]
Structure of mouse 1-Pyrroline-5-Carboxylate Dehydrogenase (ALDH4A1) complexed with acetate [X-RAY DIFFRACTION]
Structure of mouse 1-Pyrroline-5-Carboxylate Dehydrogenase (ALDH4A1) complexed with glyoxylate [X-RAY DIFFRACTION]
Structure of mouse 1-Pyrroline-5-Carboxylate Dehydrogenase (ALDH4A1) complexed with malonate [X-RAY DIFFRACTION]
Structure of mouse 1-Pyrroline-5-Carboxylate Dehydrogenase (ALDH4A1) complexed with succinate [X-RAY DIFFRACTION]
Structure of mouse 1-Pyrroline-5-Carboxylate Dehydrogenase (ALDH4A1) complexed with glutarate [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039818
AA Change: T527I
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043821
Gene: ENSMUSG00000028737
AA Change: T527I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:Aldedh
|
73 |
546 |
7.6e-104 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146309
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178644
|
| SMART Domains |
Protein: ENSMUSP00000136776
Gene: ENSMUSG00000094439
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1lbva_
|
1 |
60 |
5e-3 |
SMART |
|
Pfam:Filament
|
165 |
253 |
7.3e-13 |
PFAM |
|
low complexity region
|
255 |
268 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183787
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,645,074 (GRCm39) |
Q975L |
probably damaging |
Het |
| Acad10 |
T |
C |
5: 121,783,522 (GRCm39) |
Y301C |
probably damaging |
Het |
| Akr7a5 |
T |
A |
4: 139,041,492 (GRCm39) |
S134T |
probably damaging |
Het |
| Atf2 |
A |
G |
2: 73,676,676 (GRCm39) |
V146A |
probably damaging |
Het |
| C2cd6 |
A |
T |
1: 59,036,640 (GRCm39) |
|
probably benign |
Het |
| Caml |
T |
C |
13: 55,776,390 (GRCm39) |
S210P |
probably damaging |
Het |
| Casp1 |
A |
C |
9: 5,303,105 (GRCm39) |
R186S |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdhr1 |
T |
A |
14: 36,807,557 (GRCm39) |
Q361L |
possibly damaging |
Het |
| Chrna3 |
T |
A |
9: 54,923,290 (GRCm39) |
T173S |
probably benign |
Het |
| Commd6 |
A |
G |
14: 101,874,463 (GRCm39) |
V47A |
probably damaging |
Het |
| Dmrtc2 |
T |
C |
7: 24,572,138 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,863,215 (GRCm39) |
D721G |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,339,532 (GRCm39) |
S332G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,227,909 (GRCm39) |
E1834G |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,222,460 (GRCm39) |
L1034Q |
probably damaging |
Het |
| Gtf2ird2 |
C |
T |
5: 134,220,088 (GRCm39) |
T22M |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,449,411 (GRCm39) |
L389P |
probably damaging |
Het |
| Lipa |
T |
C |
19: 34,471,435 (GRCm39) |
D380G |
probably damaging |
Het |
| Marchf5 |
T |
G |
19: 37,194,674 (GRCm39) |
W111G |
probably damaging |
Het |
| Or8h7 |
T |
C |
2: 86,721,499 (GRCm39) |
T7A |
possibly damaging |
Het |
| Pfkfb2 |
A |
T |
1: 130,627,774 (GRCm39) |
I391N |
probably damaging |
Het |
| Sec31a |
T |
C |
5: 100,533,114 (GRCm39) |
S544G |
probably benign |
Het |
| Slc26a9 |
A |
G |
1: 131,690,674 (GRCm39) |
K530E |
probably damaging |
Het |
| Spaca3 |
G |
A |
11: 80,754,911 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
C |
12: 104,920,565 (GRCm39) |
S544G |
probably benign |
Het |
| Tctn3 |
T |
C |
19: 40,585,967 (GRCm39) |
E526G |
probably benign |
Het |
| Tll1 |
A |
T |
8: 64,523,314 (GRCm39) |
I466K |
probably benign |
Het |
| Ttbk1 |
A |
G |
17: 46,781,556 (GRCm39) |
V399A |
possibly damaging |
Het |
| Vmn1r47 |
T |
C |
6: 89,999,435 (GRCm39) |
L189P |
probably damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,751,547 (GRCm39) |
L530* |
probably null |
Het |
| Yipf3 |
T |
C |
17: 46,561,384 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Aldh4a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01732:Aldh4a1
|
APN |
4 |
139,369,471 (GRCm39) |
nonsense |
probably null |
|
|
IGL01916:Aldh4a1
|
APN |
4 |
139,371,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02368:Aldh4a1
|
APN |
4 |
139,375,511 (GRCm39) |
nonsense |
probably null |
|
|
PIT4402001:Aldh4a1
|
UTSW |
4 |
139,369,502 (GRCm39) |
nonsense |
probably null |
|
|
R0511:Aldh4a1
|
UTSW |
4 |
139,369,882 (GRCm39) |
splice site |
probably benign |
|
|
R1352:Aldh4a1
|
UTSW |
4 |
139,362,830 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1484:Aldh4a1
|
UTSW |
4 |
139,370,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1717:Aldh4a1
|
UTSW |
4 |
139,361,305 (GRCm39) |
splice site |
probably null |
|
|
R1717:Aldh4a1
|
UTSW |
4 |
139,365,840 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1729:Aldh4a1
|
UTSW |
4 |
139,371,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Aldh4a1
|
UTSW |
4 |
139,371,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Aldh4a1
|
UTSW |
4 |
139,371,439 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1786:Aldh4a1
|
UTSW |
4 |
139,371,439 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3696:Aldh4a1
|
UTSW |
4 |
139,369,562 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3697:Aldh4a1
|
UTSW |
4 |
139,369,562 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3698:Aldh4a1
|
UTSW |
4 |
139,369,562 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4603:Aldh4a1
|
UTSW |
4 |
139,370,740 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5197:Aldh4a1
|
UTSW |
4 |
139,375,612 (GRCm39) |
intron |
probably benign |
|
|
R5375:Aldh4a1
|
UTSW |
4 |
139,361,233 (GRCm39) |
missense |
probably benign |
|
|
R5539:Aldh4a1
|
UTSW |
4 |
139,365,833 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5590:Aldh4a1
|
UTSW |
4 |
139,369,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6101:Aldh4a1
|
UTSW |
4 |
139,365,806 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6105:Aldh4a1
|
UTSW |
4 |
139,365,806 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7600:Aldh4a1
|
UTSW |
4 |
139,372,315 (GRCm39) |
missense |
probably benign |
|
|
R7666:Aldh4a1
|
UTSW |
4 |
139,361,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8356:Aldh4a1
|
UTSW |
4 |
139,365,833 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8832:Aldh4a1
|
UTSW |
4 |
139,371,466 (GRCm39) |
missense |
probably benign |
|
|
R9047:Aldh4a1
|
UTSW |
4 |
139,350,511 (GRCm39) |
splice site |
probably benign |
|
|
R9407:Aldh4a1
|
UTSW |
4 |
139,372,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9638:Aldh4a1
|
UTSW |
4 |
139,371,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation