Incidental Mutation 'R5065:Aldh9a1'
ID 388282
Institutional Source Beutler Lab
Gene Symbol Aldh9a1
Ensembl Gene ENSMUSG00000026687
Gene Name aldehyde dehydrogenase 9, subfamily A1
Synonyms ESTM40, TMABA-DH
MMRRC Submission 042655-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5065 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 167177560-167196100 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 167180128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 74 (E74G)
Ref Sequence ENSEMBL: ENSMUSP00000028004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028004]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000028004
AA Change: E74G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028004
Gene: ENSMUSG00000026687
AA Change: E74G

DomainStartEndE-ValueType
Pfam:Aldedh 46 507 1.5e-174 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193091
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194843
Meta Mutation Damage Score 0.5928 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (36/36)
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. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik T A 1: 138,779,893 (GRCm39) N120Y probably damaging Het
A930011G23Rik G A 5: 99,382,432 (GRCm39) T272M probably benign Het
Asxl3 C G 18: 22,658,356 (GRCm39) A2122G possibly damaging Het
Bcl2l10 A T 9: 75,255,261 (GRCm39) E26V possibly damaging Het
Cspg4b T A 13: 113,457,453 (GRCm39) H1166Q probably benign Het
Dennd2a C A 6: 39,472,110 (GRCm39) probably null Het
Dock3 A G 9: 106,832,883 (GRCm39) F129L probably damaging Het
Gm4847 A T 1: 166,462,359 (GRCm39) I377N probably damaging Het
Gm8674 T C 13: 50,056,613 (GRCm39) noncoding transcript Het
Hhipl2 A T 1: 183,207,580 (GRCm39) H433L probably benign Het
Hsfy2 G A 1: 56,675,626 (GRCm39) Q304* probably null Het
Ighg2c T C 12: 113,251,708 (GRCm39) I140V unknown Het
Kmt2a T C 9: 44,753,997 (GRCm39) probably benign Het
Map3k5 A G 10: 19,958,213 (GRCm39) E671G probably damaging Het
Map6 A G 7: 98,985,917 (GRCm39) D607G probably benign Het
Mroh4 C T 15: 74,500,119 (GRCm39) probably null Het
Or10g6 A G 9: 39,934,546 (GRCm39) I286V probably benign Het
Pcsk6 A G 7: 65,560,047 (GRCm39) D124G possibly damaging Het
Pkhd1l1 T A 15: 44,445,689 (GRCm39) N3790K possibly damaging Het
Polr3b C A 10: 84,468,402 (GRCm39) N129K probably benign Het
Ptpn23 A T 9: 110,227,256 (GRCm39) L31Q possibly damaging Het
Sema3c A G 5: 17,932,615 (GRCm39) N706S possibly damaging Het
Sipa1l2 T C 8: 126,218,324 (GRCm39) I338V probably benign Het
Slc39a7 A G 17: 34,250,033 (GRCm39) probably benign Het
Snd1 C A 6: 28,888,239 (GRCm39) N891K probably damaging Het
Sntg1 A G 1: 8,433,663 (GRCm39) probably benign Het
Stxbp5 A T 10: 9,646,295 (GRCm39) L780Q probably damaging Het
Tacr1 G A 6: 82,531,859 (GRCm39) V252M possibly damaging Het
Tdrp T C 8: 14,003,791 (GRCm39) E182G probably damaging Het
Vmn1r58 A G 7: 5,413,834 (GRCm39) I132T probably benign Het
Wap A T 11: 6,586,840 (GRCm39) N86K probably damaging Het
Other mutations in Aldh9a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01126:Aldh9a1 APN 1 167,192,143 (GRCm39) missense probably benign 0.21
IGL01432:Aldh9a1 APN 1 167,183,354 (GRCm39) missense probably damaging 1.00
IGL02370:Aldh9a1 APN 1 167,184,101 (GRCm39) missense probably damaging 1.00
Yummy UTSW 1 167,180,128 (GRCm39) missense probably damaging 1.00
R0033:Aldh9a1 UTSW 1 167,184,140 (GRCm39) missense probably damaging 0.99
R0197:Aldh9a1 UTSW 1 167,189,416 (GRCm39) missense probably damaging 0.99
R0520:Aldh9a1 UTSW 1 167,188,960 (GRCm39) splice site probably benign
R0836:Aldh9a1 UTSW 1 167,177,824 (GRCm39) missense probably benign 0.03
R1224:Aldh9a1 UTSW 1 167,180,227 (GRCm39) missense probably damaging 0.99
R1340:Aldh9a1 UTSW 1 167,184,913 (GRCm39) missense probably benign 0.00
R1829:Aldh9a1 UTSW 1 167,189,423 (GRCm39) missense probably benign 0.07
R2849:Aldh9a1 UTSW 1 167,180,197 (GRCm39) missense probably damaging 0.98
R4937:Aldh9a1 UTSW 1 167,189,376 (GRCm39) missense probably damaging 0.96
R4965:Aldh9a1 UTSW 1 167,193,358 (GRCm39) missense probably damaging 1.00
R6578:Aldh9a1 UTSW 1 167,183,328 (GRCm39) missense probably damaging 1.00
R7111:Aldh9a1 UTSW 1 167,182,021 (GRCm39) missense probably benign 0.31
R7184:Aldh9a1 UTSW 1 167,184,965 (GRCm39) missense probably benign 0.05
R7531:Aldh9a1 UTSW 1 167,177,895 (GRCm39) missense probably benign
R7673:Aldh9a1 UTSW 1 167,189,119 (GRCm39) missense probably benign 0.35
R8026:Aldh9a1 UTSW 1 167,180,236 (GRCm39) critical splice donor site probably null
R8147:Aldh9a1 UTSW 1 167,184,949 (GRCm39) missense probably damaging 1.00
R8826:Aldh9a1 UTSW 1 167,184,119 (GRCm39) missense probably damaging 1.00
R9441:Aldh9a1 UTSW 1 167,177,919 (GRCm39) missense probably benign 0.34
R9643:Aldh9a1 UTSW 1 167,184,904 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- TGGAGCTAGATCTGCAACCC -3'
(R):5'- CATCCAAGTCTACCTGCAGC -3'

Sequencing Primer
(F):5'- CAACCCTCGTTGGAGTTTAAAGG -3'
(R):5'- TGCAGCTCCCCTCAGAG -3'
Posted On 2016-06-06