Incidental Mutation 'R6101:Aldh4a1'
| ID |
485243 |
| 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 |
044251-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R6101 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
139350177-139377001 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 139365806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 266
(P266S)
|
| 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: P266S
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000043821
Gene: ENSMUSG00000028737
AA Change: P266S
| 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: ENSMUST00000124987
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
A |
T |
8: 25,460,775 (GRCm39) |
C570S |
probably damaging |
Het |
| Adh6b |
T |
A |
3: 138,063,471 (GRCm39) |
I350K |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,981,463 (GRCm39) |
V916I |
probably benign |
Het |
| Arhgap11a |
G |
A |
2: 113,665,219 (GRCm39) |
R460* |
probably null |
Het |
| Chl1 |
A |
T |
6: 103,669,993 (GRCm39) |
D477V |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,438,629 (GRCm39) |
L45Q |
probably damaging |
Het |
| Cnot7 |
C |
T |
8: 40,963,078 (GRCm39) |
R32Q |
probably benign |
Het |
| Csrnp1 |
T |
C |
9: 119,802,551 (GRCm39) |
D220G |
probably damaging |
Het |
| Cyb5a |
G |
A |
18: 84,889,718 (GRCm39) |
R49Q |
possibly damaging |
Het |
| Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
| Glul |
T |
A |
1: 153,782,177 (GRCm39) |
Y137* |
probably null |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Igha |
T |
A |
12: 113,220,017 (GRCm39) |
|
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,466,814 (GRCm39) |
S490P |
probably benign |
Het |
| Kxd1 |
A |
T |
8: 70,972,589 (GRCm39) |
N33K |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,607,338 (GRCm39) |
I567T |
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,016,749 (GRCm39) |
D355G |
probably damaging |
Het |
| Map6 |
T |
C |
7: 98,917,314 (GRCm39) |
V29A |
probably damaging |
Het |
| Mical3 |
A |
T |
6: 121,010,671 (GRCm39) |
V437D |
probably damaging |
Het |
| Mief1 |
T |
C |
15: 80,133,941 (GRCm39) |
Y333H |
probably benign |
Het |
| Or12j4 |
T |
A |
7: 140,046,432 (GRCm39) |
V106D |
probably benign |
Het |
| Or4f7 |
A |
G |
2: 111,644,598 (GRCm39) |
F158L |
probably benign |
Het |
| Or8b52 |
A |
G |
9: 38,576,916 (GRCm39) |
S75P |
probably damaging |
Het |
| Or8d2b |
T |
C |
9: 38,788,604 (GRCm39) |
L44P |
possibly damaging |
Het |
| Pak1ip1 |
T |
A |
13: 41,158,361 (GRCm39) |
L78Q |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,303,504 (GRCm39) |
|
probably null |
Het |
| Pinlyp |
C |
T |
7: 24,245,405 (GRCm39) |
R5K |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,367,478 (GRCm39) |
D1225G |
probably damaging |
Het |
| Pnma8b |
T |
A |
7: 16,680,493 (GRCm39) |
S492R |
probably benign |
Het |
| Postn |
A |
G |
3: 54,279,641 (GRCm39) |
|
probably null |
Het |
| Ptprq |
A |
G |
10: 107,416,127 (GRCm39) |
Y1724H |
possibly damaging |
Het |
| Rpn2 |
T |
A |
2: 157,152,108 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
G |
9: 119,351,716 (GRCm39) |
V755A |
probably damaging |
Het |
| Slc22a30 |
T |
C |
19: 8,315,232 (GRCm39) |
|
probably null |
Het |
| Specc1l |
T |
C |
10: 75,084,466 (GRCm39) |
S730P |
probably damaging |
Het |
| Steap2 |
T |
A |
5: 5,725,891 (GRCm39) |
I378F |
possibly damaging |
Het |
| Tdrd12 |
A |
T |
7: 35,180,558 (GRCm39) |
Y818* |
probably null |
Het |
| Thbs4 |
G |
T |
13: 92,911,993 (GRCm39) |
Q246K |
possibly damaging |
Het |
| Tnfsf10 |
A |
G |
3: 27,389,698 (GRCm39) |
Y253C |
probably damaging |
Het |
| Tnpo3 |
G |
T |
6: 29,588,042 (GRCm39) |
C125* |
probably null |
Het |
| Trim58 |
A |
G |
11: 58,542,441 (GRCm39) |
N467S |
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,831,112 (GRCm39) |
R1326* |
probably null |
Het |
| Zc3hav1l |
A |
G |
6: 38,270,012 (GRCm39) |
V279A |
probably benign |
Het |
| Zfp618 |
A |
T |
4: 63,051,478 (GRCm39) |
Q753L |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zkscan17 |
A |
T |
11: 59,394,401 (GRCm39) |
C67S |
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 |
|
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 |
|
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'- ATGGTTGGTCTTTCGCCACC -3'
(R):5'- TTCACCAAGATAGGGACCCC -3'
Sequencing Primer
(F):5'- ACCTTGTGAATCATGTTTGACACC -3'
(R):5'- ACTCTCATTCGGCACAGTGG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation