Incidental Mutation 'R3696:Aldh4a1'
| ID |
269814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh4a1
|
| Ensembl Gene |
ENSMUSG00000028737 |
| Gene Name |
aldehyde dehydrogenase 4 family, member A1 |
| Synonyms |
P5CDH, Ahd-1, A930035F14Rik, ALDH4, Ssdh1, Ahd1 |
| MMRRC Submission |
040690-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R3696 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
139350177-139377001 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139369562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 371
(H371R)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000039818
AA Change: H371R
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000043821
Gene: ENSMUSG00000028737
AA Change: H371R
| 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
|
| Meta Mutation Damage Score |
0.0910 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (37/37) |
| 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 |
|---|
| Anapc4 |
A |
G |
5: 53,019,351 (GRCm39) |
S562G |
probably null |
Het |
| Arfgef2 |
T |
A |
2: 166,695,220 (GRCm39) |
L531* |
probably null |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,033,552 (GRCm39) |
M1010V |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,527,724 (GRCm39) |
E126G |
probably damaging |
Het |
| Ckap5 |
C |
A |
2: 91,450,511 (GRCm39) |
T2014K |
probably benign |
Het |
| Dlat |
C |
T |
9: 50,562,176 (GRCm39) |
V283I |
possibly damaging |
Het |
| Emc1 |
T |
G |
4: 139,092,697 (GRCm39) |
S546A |
possibly damaging |
Het |
| Ephx1 |
G |
A |
1: 180,817,516 (GRCm39) |
S385L |
probably benign |
Het |
| Ermard |
T |
C |
17: 15,273,638 (GRCm39) |
S408P |
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,806,473 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
C |
8: 111,329,911 (GRCm39) |
S4882P |
probably damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Il6st |
T |
G |
13: 112,640,916 (GRCm39) |
D897E |
probably benign |
Het |
| Ipo5 |
A |
C |
14: 121,159,574 (GRCm39) |
K134T |
probably benign |
Het |
| Itgb8 |
A |
G |
12: 119,140,746 (GRCm39) |
V377A |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,572,532 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
T |
G |
4: 123,350,155 (GRCm39) |
T2027P |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,235,870 (GRCm39) |
I678L |
possibly damaging |
Het |
| Nfu1 |
A |
G |
6: 86,992,634 (GRCm39) |
T83A |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,661,344 (GRCm39) |
C748Y |
probably damaging |
Het |
| Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,360 (GRCm39) |
T103A |
probably benign |
Het |
| Prm3 |
T |
C |
16: 10,608,672 (GRCm39) |
M28V |
possibly damaging |
Het |
| Rgs22 |
C |
T |
15: 36,100,038 (GRCm39) |
V226I |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Septin4 |
A |
T |
11: 87,476,060 (GRCm39) |
T212S |
possibly damaging |
Het |
| Trdn |
T |
A |
10: 33,181,028 (GRCm39) |
|
probably null |
Het |
| Trim2 |
T |
A |
3: 84,098,158 (GRCm39) |
Y390F |
probably benign |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,523 (GRCm39) |
I232F |
possibly damaging |
Het |
| Zfp30 |
A |
T |
7: 29,492,815 (GRCm39) |
K356N |
probably damaging |
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 |
|
|
IGL02469:Aldh4a1
|
APN |
4 |
139,375,472 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTGGCGGGAAGAATTTC -3'
(R):5'- GAAGAAGGTCCCAAAGTCCTCTG -3'
Sequencing Primer
(F):5'- GAATTTCCATTTTGTGCACAGC -3'
(R):5'- AGAGGAAGGGACCCTTTTTCCTAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation