Incidental Mutation 'R5539:Aldh4a1'
ID 435815
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 043097-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R5539 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 139350177-139377001 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139365833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 275 (S275P)
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: S275P

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000043821
Gene: ENSMUSG00000028737
AA Change: S275P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 0.3132 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A T 16: 88,555,917 (GRCm39) S44C probably damaging Het
Abca4 A G 3: 121,963,557 (GRCm39) I846V probably damaging Het
Arhgap12 A T 18: 6,111,932 (GRCm39) L144H probably benign Het
Ccdc141 A T 2: 76,845,437 (GRCm39) I1210N probably damaging Het
Ccdc175 T C 12: 72,191,587 (GRCm39) T330A probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dnah17 T C 11: 117,964,486 (GRCm39) K2444E probably benign Het
Dnajc3 G A 14: 119,208,159 (GRCm39) V265M probably damaging Het
Flg2 T A 3: 93,127,753 (GRCm39) Y2222N unknown Het
Flnc G T 6: 29,446,229 (GRCm39) G882V probably damaging Het
Fndc5 T A 4: 129,032,514 (GRCm39) V39D probably damaging Het
Gabrr3 A T 16: 59,281,758 (GRCm39) H371L probably benign Het
Gm10717 A T 9: 3,030,438 (GRCm39) H33L probably damaging Het
Gm5422 A G 10: 31,124,646 (GRCm39) noncoding transcript Het
Kri1 G A 9: 21,190,668 (GRCm39) Q280* probably null Het
Lcp1 T C 14: 75,466,738 (GRCm39) V615A probably benign Het
Ltbp4 T C 7: 27,027,149 (GRCm39) Y407C probably damaging Het
Med30 G T 15: 52,584,462 (GRCm39) D127Y probably damaging Het
Mybpc2 A G 7: 44,164,317 (GRCm39) V416A probably benign Het
Notch2 C T 3: 98,044,898 (GRCm39) R1607C probably damaging Het
Nr4a3 T A 4: 48,056,525 (GRCm39) probably null Het
Ntf5 G T 7: 45,065,354 (GRCm39) R162L probably benign Het
Nxpe3 A G 16: 55,711,034 (GRCm39) W2R possibly damaging Het
Or10d1c T C 9: 38,893,573 (GRCm39) I256V possibly damaging Het
Or14j4 T A 17: 37,921,646 (GRCm39) M1L probably benign Het
Or1m1 G A 9: 18,666,134 (GRCm39) R266C probably damaging Het
Or5p58 A T 7: 107,694,433 (GRCm39) C115S probably benign Het
Pan2 C A 10: 128,144,002 (GRCm39) D99E probably benign Het
Pcdh12 T C 18: 38,414,797 (GRCm39) H776R possibly damaging Het
Prdm2 T C 4: 142,859,264 (GRCm39) H1342R possibly damaging Het
Prpf8 A G 11: 75,394,464 (GRCm39) T1800A probably benign Het
Prss40 T C 1: 34,591,760 (GRCm39) *148W probably null Het
Pygo1 C T 9: 72,852,061 (GRCm39) P83S probably damaging Het
Raf1 G T 6: 115,596,317 (GRCm39) S619R probably damaging Het
Rtf1 A G 2: 119,560,405 (GRCm39) M596V possibly damaging Het
Slc12a5 T A 2: 164,829,126 (GRCm39) D578E possibly damaging Het
Slc35b4 A G 6: 34,153,737 (GRCm39) V18A probably damaging Het
Spata31 T A 13: 65,070,783 (GRCm39) I977K probably benign Het
Tor2a T C 2: 32,650,672 (GRCm39) I222T probably damaging Het
Trim23 T C 13: 104,334,541 (GRCm39) V347A probably damaging Het
Trip11 A G 12: 101,851,386 (GRCm39) S893P probably damaging Het
Trmt10c G A 16: 55,855,324 (GRCm39) P104S probably damaging Het
Ubr3 A T 2: 69,850,877 (GRCm39) Y1765F probably damaging Het
Zfp951 C T 5: 104,962,712 (GRCm39) E285K probably damaging Het
Other mutations in Aldh4a1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CATGGTTGGTCTTTCGCCAC -3'
(R):5'- TTCACCAAGATAGGGACCCC -3'

Sequencing Primer
(F):5'- ACCTTGTGAATCATGTTTGACACC -3'
(R):5'- ACTCTCATTCGGCACAGTGG -3'
Posted On 2016-10-24