Incidental Mutation 'R1717:Aldh4a1'
ID 258039
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 039750-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R1717 (G1)
Quality Score 66
Status Validated
Chromosome 4
Chromosomal Location 139350177-139377001 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 139361305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000043821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039818] [ENSMUST00000039818] [ENSMUST00000178644] [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 null
Transcript: ENSMUST00000039818
SMART Domains Protein: ENSMUSP00000043821
Gene: ENSMUSG00000028737

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Aldedh 73 546 7.6e-104 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000039818
SMART Domains Protein: ENSMUSP00000043821
Gene: ENSMUSG00000028737

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
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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 98% (81/83)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT 10: 95,629,641 (GRCm39) probably null Het
4930583I09Rik T C 17: 65,141,444 (GRCm39) N53S unknown Het
4933434E20Rik T A 3: 89,963,544 (GRCm39) S67T probably benign Het
Abcc8 T C 7: 45,765,239 (GRCm39) I1127V possibly damaging Het
Abcg3 G A 5: 105,111,421 (GRCm39) Q349* probably null Het
Adam2 A G 14: 66,306,007 (GRCm39) L158P probably damaging Het
Agrn GCTCT GCTCTCT 4: 156,250,976 (GRCm39) probably null Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Akap11 C A 14: 78,750,788 (GRCm39) S533I probably benign Het
Aldh1a2 A T 9: 71,200,953 (GRCm39) N517I probably damaging Het
Ankrd27 A G 7: 35,327,871 (GRCm39) D742G possibly damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arhgef7 C A 8: 11,858,712 (GRCm39) probably benign Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Armh4 T C 14: 49,989,121 (GRCm39) D616G probably damaging Het
Arvcf A G 16: 18,220,319 (GRCm39) K568E possibly damaging Het
Atp8b3 G A 10: 80,364,631 (GRCm39) R521W probably damaging Het
Casp16 A G 17: 23,771,024 (GRCm39) I127T possibly damaging Het
Cd163 A G 6: 124,306,547 (GRCm39) probably benign Het
Cdh8 A T 8: 99,757,337 (GRCm39) S754T probably damaging Het
Cel A G 2: 28,446,789 (GRCm39) Y461H probably damaging Het
Chmp4b A G 2: 154,499,240 (GRCm39) I47V possibly damaging Het
Col1a1 A G 11: 94,839,218 (GRCm39) M989V unknown Het
Cpsf1 A T 15: 76,486,766 (GRCm39) S257T possibly damaging Het
Csmd1 A T 8: 17,266,708 (GRCm39) S73T possibly damaging Het
Csnk2a2 T C 8: 96,182,436 (GRCm39) probably null Het
Dact2 A T 17: 14,418,175 (GRCm39) W177R probably benign Het
Ddx10 A G 9: 53,071,253 (GRCm39) V680A probably benign Het
Eif5 T A 12: 111,508,651 (GRCm39) D215E probably benign Het
Evpl C T 11: 116,116,318 (GRCm39) A817T probably benign Het
Fmo6 T A 1: 162,753,821 (GRCm39) R131* probably null Het
Fsd2 T C 7: 81,184,857 (GRCm39) T680A probably benign Het
Fsip2 T C 2: 82,805,289 (GRCm39) V536A possibly damaging Het
Fzd8 T C 18: 9,214,364 (GRCm39) F482S probably damaging Het
Gabrb1 A T 5: 72,265,694 (GRCm39) probably null Het
Galnt9 T G 5: 110,744,078 (GRCm39) I304S probably benign Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm5334 A C 7: 68,268,725 (GRCm39) noncoding transcript Het
Grcc10 A T 6: 124,717,476 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,734,937 (GRCm39) T192A probably damaging Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Irgm2 T A 11: 58,111,461 (GRCm39) L396Q probably damaging Het
Ksr2 T A 5: 117,809,514 (GRCm39) C426S probably damaging Het
Lair1 A G 7: 4,013,788 (GRCm39) F153S probably damaging Het
Lrp1 T C 10: 127,392,138 (GRCm39) H2835R possibly damaging Het
Lrp1 T C 10: 127,399,534 (GRCm39) T2325A probably damaging Het
Lrrd1 T C 5: 3,900,580 (GRCm39) F295S probably damaging Het
Meis1 T A 11: 18,960,608 (GRCm39) probably benign Het
Mkln1 T A 6: 31,484,579 (GRCm39) I156K probably benign Het
Mmd2 T C 5: 142,561,105 (GRCm39) probably benign Het
Morc1 A G 16: 48,272,840 (GRCm39) I156V probably benign Het
Muc4 A G 16: 32,753,405 (GRCm38) T1094A possibly damaging Het
Nckap1 A G 2: 80,343,014 (GRCm39) probably benign Het
Neb A G 2: 52,198,759 (GRCm39) I394T possibly damaging Het
Or12e1 A T 2: 87,022,247 (GRCm39) N72I probably benign Het
Or2t49 T A 11: 58,392,885 (GRCm39) M166L probably benign Het
Or4e2 T C 14: 52,688,296 (GRCm39) V142A probably benign Het
Or5as1 A T 2: 86,980,150 (GRCm39) L285* probably null Het
Or8d1b C T 9: 38,887,706 (GRCm39) L245F probably damaging Het
Pcdha1 T C 18: 37,065,237 (GRCm39) S634P probably benign Het
Pcdhb12 T A 18: 37,569,841 (GRCm39) V329E probably damaging Het
Pcf11 A T 7: 92,312,793 (GRCm39) D193E probably benign Het
Pcsk1 G C 13: 75,258,947 (GRCm39) M240I probably damaging Het
Pdc T A 1: 150,208,892 (GRCm39) I125N probably damaging Het
Plch2 C T 4: 155,082,729 (GRCm39) G564S probably benign Het
Rasgrf1 G T 9: 89,835,966 (GRCm39) Q231H probably damaging Het
Riok1 T A 13: 38,236,926 (GRCm39) I389N probably damaging Het
Ror1 T A 4: 100,160,135 (GRCm39) S50R probably benign Het
Samd13 T C 3: 146,352,070 (GRCm39) T75A probably benign Het
Siglec1 G A 2: 130,915,876 (GRCm39) H1329Y possibly damaging Het
Siglec1 T C 2: 130,925,932 (GRCm39) N258S probably damaging Het
Slbp G A 5: 33,802,946 (GRCm39) A126V probably benign Het
Slc12a4 A T 8: 106,674,203 (GRCm39) probably null Het
Specc1 A G 11: 62,019,218 (GRCm39) I686V possibly damaging Het
Synpo2 C A 3: 122,906,203 (GRCm39) V1038F probably damaging Het
Tbk1 G A 10: 121,397,550 (GRCm39) T374I probably benign Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tmem190 T C 7: 4,787,132 (GRCm39) L112P probably damaging Het
Tsc2 C T 17: 24,816,042 (GRCm39) R1715Q probably damaging Het
Ulbp3 A T 10: 3,075,050 (GRCm39) noncoding transcript Het
Vmn1r46 T C 6: 89,953,811 (GRCm39) L220P probably damaging Het
Vwa3a A G 7: 120,392,609 (GRCm39) Q816R probably benign Het
Zfhx4 T C 3: 5,468,164 (GRCm39) I2799T probably benign Het
Zfp105 T C 9: 122,759,696 (GRCm39) S456P 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 4 139,365,840 (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'- GGTGACCAATGAGCCCATCTTAGC -3'
(R):5'- TTTGGACATGCCTCAGGAATGGAC -3'

Sequencing Primer
(F):5'- TTAGCATTCTCTCAGGGAAGC -3'
(R):5'- ATGGACCGTGAGTGGCAC -3'
Posted On 2015-01-22