Incidental Mutation 'R1721:Aldh18a1'
ID 191515
Institutional Source Beutler Lab
Gene Symbol Aldh18a1
Ensembl Gene ENSMUSG00000025007
Gene Name aldehyde dehydrogenase 18 family, member A1
Synonyms 2810433K04Rik, Pycs
MMRRC Submission 039753-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1721 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 40538701-40576907 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 40553282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 487 (Q487K)
Ref Sequence ENSEMBL: ENSMUSP00000135426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025979] [ENSMUST00000176939]
AlphaFold Q9Z110
Predicted Effect probably damaging
Transcript: ENSMUST00000025979
AA Change: Q489K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025979
Gene: ENSMUSG00000025007
AA Change: Q489K

DomainStartEndE-ValueType
Pfam:AA_kinase 71 329 1e-41 PFAM
Pfam:Aldedh 350 659 3.9e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134749
Predicted Effect probably damaging
Transcript: ENSMUST00000176939
AA Change: Q487K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135426
Gene: ENSMUSG00000025007
AA Change: Q487K

DomainStartEndE-ValueType
Pfam:AA_kinase 71 327 1.9e-39 PFAM
Pfam:Aldedh 351 665 3.4e-11 PFAM
Meta Mutation Damage Score 0.9582 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 99% (87/88)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 A T 14: 54,901,995 (GRCm39) V559E probably benign Het
Adamts20 A G 15: 94,236,340 (GRCm39) F844L probably benign Het
Adcy5 C A 16: 35,118,794 (GRCm39) D1048E probably damaging Het
Agrn A T 4: 156,259,630 (GRCm39) C768* probably null Het
Aldh3b1 G A 19: 3,971,271 (GRCm39) probably benign Het
Asb18 T G 1: 89,896,302 (GRCm39) D246A probably benign Het
Atp2b1 T C 10: 98,832,750 (GRCm39) V417A probably damaging Het
Bcl2l15 A G 3: 103,745,914 (GRCm39) probably null Het
Brd10 A T 19: 29,720,998 (GRCm39) S743T probably damaging Het
Cage1 T A 13: 38,207,309 (GRCm39) K285* probably null Het
Ccn2 A C 10: 24,472,695 (GRCm39) T202P probably damaging Het
Cldn17 A G 16: 88,303,444 (GRCm39) L95P probably damaging Het
Cldn20 A T 17: 3,583,157 (GRCm39) D110V probably damaging Het
Cnot10 T C 9: 114,444,067 (GRCm39) T443A probably benign Het
Col14a1 T A 15: 55,310,858 (GRCm39) probably benign Het
Col23a1 T C 11: 51,418,716 (GRCm39) Y135H unknown Het
Cse1l T C 2: 166,768,331 (GRCm39) S210P probably damaging Het
Cspg4 T G 9: 56,796,027 (GRCm39) V1254G probably damaging Het
Dip2c A G 13: 9,709,404 (GRCm39) T1415A probably damaging Het
Epc2 A G 2: 49,422,117 (GRCm39) Y337C probably damaging Het
Epha2 A G 4: 141,049,963 (GRCm39) S799G probably damaging Het
Fndc10 A G 4: 155,779,355 (GRCm39) Y133C probably damaging Het
Gli3 G T 13: 15,900,882 (GRCm39) S1423I probably benign Het
Gm6034 A T 17: 36,354,045 (GRCm39) probably benign Het
Gmip A G 8: 70,263,882 (GRCm39) S109G probably damaging Het
Grik2 C A 10: 49,399,842 (GRCm39) W296L possibly damaging Het
Gucy2d T A 7: 98,103,268 (GRCm39) L504H probably damaging Het
Il6 T A 5: 30,218,490 (GRCm39) Y46N possibly damaging Het
Ints8 C A 4: 11,241,684 (GRCm39) C253F probably damaging Het
Itga9 A G 9: 118,527,374 (GRCm39) probably benign Het
Kcna7 T C 7: 45,056,345 (GRCm39) V187A possibly damaging Het
Kdm5b G T 1: 134,540,919 (GRCm39) probably benign Het
Knl1 T G 2: 118,906,815 (GRCm39) S1635A probably damaging Het
Lce1b A G 3: 92,563,318 (GRCm39) S72P unknown Het
Lox T G 18: 52,653,983 (GRCm39) probably null Het
Mdc1 A G 17: 36,158,718 (GRCm39) D366G possibly damaging Het
Meiob T C 17: 25,053,021 (GRCm39) C344R probably damaging Het
Mier2 A G 10: 79,384,664 (GRCm39) V150A probably damaging Het
Mon2 A T 10: 122,867,002 (GRCm39) M551K probably damaging Het
Mrps15 A G 4: 125,945,187 (GRCm39) T125A probably benign Het
Mtmr14 A G 6: 113,230,693 (GRCm39) H99R probably damaging Het
Mup4 A G 4: 59,960,598 (GRCm39) M1T probably null Het
Mup5 G A 4: 61,750,607 (GRCm39) R179* probably null Het
Ncoa3 T G 2: 165,911,221 (GRCm39) V1326G possibly damaging Het
Noa1 A T 5: 77,455,428 (GRCm39) N429K probably benign Het
Nrxn1 C T 17: 90,469,832 (GRCm39) A241T probably damaging Het
Or1p1 A T 11: 74,180,126 (GRCm39) Y218F probably damaging Het
Or2t49 C T 11: 58,392,765 (GRCm39) V206M probably damaging Het
Pcdh9 G A 14: 94,125,471 (GRCm39) S233L probably damaging Het
Peg3 C A 7: 6,712,900 (GRCm39) S774I possibly damaging Het
Phyh A G 2: 4,942,620 (GRCm39) K321R probably null Het
Plcg1 T A 2: 160,573,840 (GRCm39) M35K probably damaging Het
Pnisr C T 4: 21,874,086 (GRCm39) probably benign Het
Ppargc1b T A 18: 61,440,275 (GRCm39) probably null Het
Prcd A C 11: 116,548,371 (GRCm39) S27R probably benign Het
Prx T A 7: 27,216,948 (GRCm39) M622K probably benign Het
Psmd1 T A 1: 85,999,567 (GRCm39) D51E probably damaging Het
Psmd13 C T 7: 140,463,430 (GRCm39) T38I probably damaging Het
Ptprf A C 4: 118,082,096 (GRCm39) D1047E possibly damaging Het
Rai14 C A 15: 10,633,314 (GRCm39) Q25H probably damaging Het
Riiad1 G A 3: 94,380,176 (GRCm39) P40S possibly damaging Het
Rnft1 T A 11: 86,377,096 (GRCm39) N53K probably benign Het
Scn4a C T 11: 106,211,646 (GRCm39) R1457H probably benign Het
Sema6c A T 3: 95,078,099 (GRCm39) I492F probably damaging Het
Shbg T C 11: 69,505,798 (GRCm39) H403R probably damaging Het
Slc15a5 A T 6: 138,049,845 (GRCm39) probably benign Het
Slc38a1 G A 15: 96,485,016 (GRCm39) T221M probably damaging Het
Slc6a16 T A 7: 44,910,600 (GRCm39) V375E possibly damaging Het
Slc6a17 T A 3: 107,379,492 (GRCm39) M559L probably damaging Het
Slmap A G 14: 26,181,373 (GRCm39) probably benign Het
Sorcs2 G A 5: 36,184,092 (GRCm39) R965W probably damaging Het
St8sia4 C A 1: 95,581,394 (GRCm39) R116L probably damaging Het
Tcaf1 A C 6: 42,652,272 (GRCm39) S737A possibly damaging Het
Thbs2 T A 17: 14,899,072 (GRCm39) Y676F probably benign Het
Tmod2 A G 9: 75,493,324 (GRCm39) probably benign Het
Trim75 T C 8: 65,435,391 (GRCm39) probably null Het
Ubr5 A T 15: 38,042,090 (GRCm39) S169T probably benign Het
Usp54 A T 14: 20,633,508 (GRCm39) Y37* probably null Het
Vill T C 9: 118,895,082 (GRCm39) F100S probably damaging Het
Vstm5 A G 9: 15,168,663 (GRCm39) R76G probably benign Het
Zfp608 T C 18: 55,032,321 (GRCm39) T540A probably benign Het
Zfp947 A C 17: 22,365,184 (GRCm39) N163K probably benign Het
Zfyve26 T C 12: 79,308,573 (GRCm39) H228R possibly damaging Het
Other mutations in Aldh18a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Aldh18a1 APN 19 40,557,625 (GRCm39) splice site probably benign
IGL02353:Aldh18a1 APN 19 40,566,364 (GRCm39) missense probably damaging 0.98
IGL02360:Aldh18a1 APN 19 40,566,364 (GRCm39) missense probably damaging 0.98
IGL02974:Aldh18a1 APN 19 40,557,528 (GRCm39) missense probably damaging 0.96
IGL03295:Aldh18a1 APN 19 40,551,386 (GRCm39) missense probably damaging 1.00
PIT4498001:Aldh18a1 UTSW 19 40,562,800 (GRCm39) missense probably benign
R0267:Aldh18a1 UTSW 19 40,562,233 (GRCm39) missense probably benign 0.25
R0498:Aldh18a1 UTSW 19 40,562,716 (GRCm39) missense probably benign 0.29
R1140:Aldh18a1 UTSW 19 40,562,729 (GRCm39) missense probably benign 0.01
R1142:Aldh18a1 UTSW 19 40,539,657 (GRCm39) missense probably damaging 0.97
R1509:Aldh18a1 UTSW 19 40,545,927 (GRCm39) missense probably damaging 0.98
R1640:Aldh18a1 UTSW 19 40,573,943 (GRCm39) missense probably benign
R3012:Aldh18a1 UTSW 19 40,546,135 (GRCm39) nonsense probably null
R3085:Aldh18a1 UTSW 19 40,562,813 (GRCm39) missense probably benign
R3815:Aldh18a1 UTSW 19 40,558,944 (GRCm39) missense probably damaging 1.00
R3863:Aldh18a1 UTSW 19 40,539,758 (GRCm39) missense probably damaging 1.00
R4156:Aldh18a1 UTSW 19 40,539,725 (GRCm39) missense probably damaging 1.00
R5116:Aldh18a1 UTSW 19 40,541,949 (GRCm39) missense probably benign
R5135:Aldh18a1 UTSW 19 40,543,261 (GRCm39) intron probably benign
R5393:Aldh18a1 UTSW 19 40,574,011 (GRCm39) missense probably benign 0.00
R5492:Aldh18a1 UTSW 19 40,539,734 (GRCm39) missense probably damaging 1.00
R5493:Aldh18a1 UTSW 19 40,539,734 (GRCm39) missense probably damaging 1.00
R5494:Aldh18a1 UTSW 19 40,539,734 (GRCm39) missense probably damaging 1.00
R5957:Aldh18a1 UTSW 19 40,558,981 (GRCm39) nonsense probably null
R6255:Aldh18a1 UTSW 19 40,568,487 (GRCm39) missense possibly damaging 0.93
R6320:Aldh18a1 UTSW 19 40,559,005 (GRCm39) missense probably benign 0.44
R6358:Aldh18a1 UTSW 19 40,566,122 (GRCm39) missense possibly damaging 0.83
R6379:Aldh18a1 UTSW 19 40,566,214 (GRCm39) critical splice donor site probably null
R6785:Aldh18a1 UTSW 19 40,556,788 (GRCm39) missense probably damaging 1.00
R7334:Aldh18a1 UTSW 19 40,539,696 (GRCm39) missense probably damaging 1.00
R7549:Aldh18a1 UTSW 19 40,553,291 (GRCm39) missense probably damaging 1.00
R7935:Aldh18a1 UTSW 19 40,562,226 (GRCm39) nonsense probably null
R7960:Aldh18a1 UTSW 19 40,546,264 (GRCm39) missense probably benign 0.03
R8152:Aldh18a1 UTSW 19 40,553,456 (GRCm39) missense probably benign 0.01
R8179:Aldh18a1 UTSW 19 40,545,952 (GRCm39) missense probably damaging 1.00
R8181:Aldh18a1 UTSW 19 40,545,881 (GRCm39) missense probably benign 0.27
R8222:Aldh18a1 UTSW 19 40,562,296 (GRCm39) missense probably benign 0.00
R8787:Aldh18a1 UTSW 19 40,546,230 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- TTAGGTGAATGACAGCAGCAGCC -3'
(R):5'- CGTTTTAGGAAGACTTGCCAGCCC -3'

Sequencing Primer
(F):5'- GGATGTGCCAGTCTCAGAAC -3'
(R):5'- TGCTGAAGCGCCTTAGCC -3'
Posted On 2014-05-14