Incidental Mutation 'R1352:Aldh4a1'
| ID |
156696 |
| 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 |
039417-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R1352 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
139350177-139377001 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139362830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 142
(V142A)
|
| 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 benign
Transcript: ENSMUST00000039818
AA Change: V142A
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000043821
Gene: ENSMUSG00000028737
AA Change: V142A
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.5%
|
| Validation Efficiency |
95% (42/44) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,784,892 (GRCm39) |
|
probably benign |
Het |
| Acbd3 |
T |
A |
1: 180,566,095 (GRCm39) |
Y263N |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cass4 |
T |
C |
2: 172,258,415 (GRCm39) |
S138P |
probably damaging |
Het |
| Cbln4 |
T |
C |
2: 171,879,376 (GRCm39) |
K171E |
possibly damaging |
Het |
| Cd226 |
A |
G |
18: 89,265,298 (GRCm39) |
Y79C |
probably damaging |
Het |
| Dclre1a |
T |
C |
19: 56,533,595 (GRCm39) |
D333G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,268,329 (GRCm39) |
|
probably null |
Het |
| Eml5 |
A |
G |
12: 98,797,262 (GRCm39) |
|
probably benign |
Het |
| Evx1 |
T |
C |
6: 52,293,995 (GRCm39) |
S388P |
probably damaging |
Het |
| Gins1 |
T |
A |
2: 150,772,768 (GRCm39) |
L177* |
probably null |
Het |
| Gm5422 |
A |
C |
10: 31,126,731 (GRCm39) |
|
noncoding transcript |
Het |
| Gmppa |
T |
A |
1: 75,417,178 (GRCm39) |
D204E |
probably benign |
Het |
| Ifna7 |
A |
C |
4: 88,734,897 (GRCm39) |
T145P |
possibly damaging |
Het |
| Inhbb |
T |
C |
1: 119,348,425 (GRCm39) |
D131G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,013,240 (GRCm39) |
K2679E |
probably damaging |
Het |
| Kif20b |
C |
A |
19: 34,902,035 (GRCm39) |
H4N |
probably benign |
Het |
| Kng1 |
G |
T |
16: 22,886,444 (GRCm39) |
|
probably null |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,089 (GRCm39) |
A498V |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,328,486 (GRCm39) |
|
probably null |
Het |
| Nkapl |
T |
C |
13: 21,652,230 (GRCm39) |
R128G |
unknown |
Het |
| Or51v8 |
T |
C |
7: 103,319,518 (GRCm39) |
H240R |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,782 (GRCm39) |
Y264F |
probably benign |
Het |
| Prlr |
T |
C |
15: 10,328,872 (GRCm39) |
V449A |
probably benign |
Het |
| Rbm44 |
C |
A |
1: 91,080,764 (GRCm39) |
D317E |
probably damaging |
Het |
| Sirt5 |
T |
C |
13: 43,548,283 (GRCm39) |
S310P |
probably damaging |
Het |
| Spice1 |
T |
C |
16: 44,207,185 (GRCm39) |
S856P |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,911,199 (GRCm39) |
|
probably benign |
Het |
| St6gal1 |
A |
G |
16: 23,140,401 (GRCm39) |
K191E |
probably damaging |
Het |
| Stat6 |
A |
T |
10: 127,486,680 (GRCm39) |
Q152L |
probably benign |
Het |
| Stk3 |
T |
C |
15: 35,008,371 (GRCm39) |
D253G |
probably damaging |
Het |
| Tas2r139 |
C |
T |
6: 42,117,874 (GRCm39) |
A2V |
probably benign |
Het |
| Tfpi2 |
A |
G |
6: 3,968,281 (GRCm39) |
L15P |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,224,207 (GRCm39) |
C1445S |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,978,081 (GRCm39) |
H195Q |
possibly damaging |
Het |
| Ttc21a |
A |
T |
9: 119,783,718 (GRCm39) |
E600V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,677,041 (GRCm39) |
|
probably benign |
Het |
| Vmn2r88 |
T |
C |
14: 51,656,007 (GRCm39) |
S740P |
probably damaging |
Het |
| Wrn |
A |
C |
8: 33,784,944 (GRCm39) |
V476G |
probably benign |
Het |
| Zdbf2 |
C |
A |
1: 63,342,212 (GRCm39) |
A197E |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCACAATAACAGCAGGATGGGC -3'
(R):5'- GCAACTCTGTGGTTGTTTAAGAGCG -3'
Sequencing Primer
(F):5'- CTGTAGCAGTGTGGACAGGAC -3'
(R):5'- TGTTTAAGAGCGCCCACTGAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation