Incidental Mutation 'R8222:Aldh18a1'
ID 636793
Institutional Source Beutler Lab
Gene Symbol Aldh18a1
Ensembl Gene ENSMUSG00000025007
Gene Name aldehyde dehydrogenase 18 family, member A1
Synonyms 2810433K04Rik, Pycs
MMRRC Submission 067640-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8222 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 40538701-40576907 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 40562296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 243 (V243I)
Ref Sequence ENSEMBL: ENSMUSP00000025979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025979] [ENSMUST00000149476] [ENSMUST00000175932] [ENSMUST00000176939] [ENSMUST00000176955]
AlphaFold Q9Z110
Predicted Effect probably benign
Transcript: ENSMUST00000025979
AA Change: V243I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025979
Gene: ENSMUSG00000025007
AA Change: V243I

DomainStartEndE-ValueType
Pfam:AA_kinase 71 329 1e-41 PFAM
Pfam:Aldedh 350 659 3.9e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149476
SMART Domains Protein: ENSMUSP00000115429
Gene: ENSMUSG00000025007

DomainStartEndE-ValueType
Pfam:AA_kinase 71 173 3.3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175932
Predicted Effect probably benign
Transcript: ENSMUST00000176939
AA Change: V241I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135426
Gene: ENSMUSG00000025007
AA Change: V241I

DomainStartEndE-ValueType
Pfam:AA_kinase 71 327 1.9e-39 PFAM
Pfam:Aldedh 351 665 3.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176955
SMART Domains Protein: ENSMUSP00000135759
Gene: ENSMUSG00000025007

DomainStartEndE-ValueType
PDB:4Q1T|D 1 83 1e-5 PDB
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 100% (56/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd11 A T 8: 123,622,347 (GRCm39) S481T probably damaging Het
Atg2b A G 12: 105,618,475 (GRCm39) I859T possibly damaging Het
B4galt3 G A 1: 171,100,253 (GRCm39) R141Q possibly damaging Het
Bace1 T C 9: 45,768,491 (GRCm39) V262A probably damaging Het
BC106179 A T 16: 23,043,055 (GRCm39) I47N noncoding transcript Het
Brpf1 C T 6: 113,286,999 (GRCm39) P76S probably benign Het
Cdk1 A G 10: 69,176,426 (GRCm39) V227A probably benign Het
Ceacam20 T C 7: 19,705,618 (GRCm39) V203A probably benign Het
Cfap251 T A 5: 123,440,486 (GRCm39) Y1091N probably damaging Het
Cma2 T C 14: 56,210,727 (GRCm39) V194A probably benign Het
Cnnm4 A G 1: 36,545,617 (GRCm39) D749G probably benign Het
Cyp11b2 T C 15: 74,728,059 (GRCm39) T8A probably benign Het
Dlk2 A G 17: 46,613,384 (GRCm39) H170R probably benign Het
Esyt1 C T 10: 128,347,647 (GRCm39) R987Q possibly damaging Het
Ganc T C 2: 120,276,933 (GRCm39) I665T probably damaging Het
Gas6 T C 8: 13,520,276 (GRCm39) T471A probably benign Het
Grik2 A G 10: 49,449,744 (GRCm39) F153L probably benign Het
Heatr5b A G 17: 79,109,130 (GRCm39) V1043A possibly damaging Het
Ipo5 A G 14: 121,157,414 (GRCm39) D84G probably benign Het
Irak4 T A 15: 94,459,110 (GRCm39) probably null Het
Lrp4 T A 2: 91,305,086 (GRCm39) C238S probably damaging Het
Mau2 A T 8: 70,485,827 (GRCm39) probably null Het
Mdn1 T C 4: 32,707,477 (GRCm39) F1589L probably benign Het
Mlxip T G 5: 123,585,596 (GRCm39) S662A probably benign Het
Mn1 A T 5: 111,566,546 (GRCm39) N172I probably damaging Het
Mup2 A C 4: 60,138,454 (GRCm39) D79E probably benign Het
Nab2 C A 10: 127,498,645 (GRCm39) V475L probably benign Het
Nlrp3 A G 11: 59,439,614 (GRCm39) E397G probably damaging Het
Odf2l A G 3: 144,833,799 (GRCm39) E153G probably damaging Het
Or13p10 T C 4: 118,523,113 (GRCm39) L133P probably damaging Het
Or51f5 G T 7: 102,424,099 (GRCm39) D123Y probably damaging Het
Or5d36 T A 2: 87,901,381 (GRCm39) Y115F probably benign Het
Or5l13 T C 2: 87,779,788 (GRCm39) N263S probably benign Het
Pkdrej T A 15: 85,701,640 (GRCm39) H1432L probably benign Het
Plec C T 15: 76,063,374 (GRCm39) R2232H possibly damaging Het
Polk T C 13: 96,632,023 (GRCm39) M317V possibly damaging Het
Ppp4r3a A G 12: 101,008,164 (GRCm39) S758P probably benign Het
Pramel26 A T 4: 143,536,893 (GRCm39) D479E possibly damaging Het
Prdm9 A G 17: 15,765,035 (GRCm39) S582P possibly damaging Het
R3hcc1l T A 19: 42,564,616 (GRCm39) L643H probably damaging Het
Rassf8 G A 6: 145,765,783 (GRCm39) V38M unknown Het
Reln G A 5: 22,136,475 (GRCm39) Q2518* probably null Het
Sel1l3 A G 5: 53,345,296 (GRCm39) probably null Het
Serpina3m A T 12: 104,358,960 (GRCm39) D324V possibly damaging Het
Slc12a6 T A 2: 112,169,870 (GRCm39) probably null Het
Slc25a3 A G 10: 90,954,053 (GRCm39) W219R probably damaging Het
Sort1 T A 3: 108,241,951 (GRCm39) V299E probably benign Het
Stx6 A G 1: 155,073,889 (GRCm39) D233G possibly damaging Het
Tefm A G 11: 80,031,230 (GRCm39) V2A Het
Tfdp2 T C 9: 96,192,666 (GRCm39) S190P possibly damaging Het
Tmprss7 A T 16: 45,478,461 (GRCm39) I755N probably damaging Het
Trpm8 A G 1: 88,253,390 (GRCm39) probably null Het
Ube2q2l A G 6: 136,377,882 (GRCm39) I316T probably damaging Het
Ugt2a2 A G 5: 87,608,369 (GRCm39) L490P probably damaging Het
Utp20 A G 10: 88,614,234 (GRCm39) L1240P probably damaging Het
Vmn1r159 G T 7: 22,542,608 (GRCm39) Y141* probably null Het
Vmn2r56 T A 7: 12,444,960 (GRCm39) Y431F probably benign 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
R1721:Aldh18a1 UTSW 19 40,553,282 (GRCm39) missense probably damaging 1.00
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
R8787:Aldh18a1 UTSW 19 40,546,230 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- AAACATCATCTGCGCATGCC -3'
(R):5'- TGGCTTAGACGATGCTGTGC -3'

Sequencing Primer
(F):5'- TCCAGTTCACGTGGCTTAGGAAC -3'
(R):5'- TGCGCATGGCTTAGAGCTC -3'
Posted On 2020-07-13