Incidental Mutation 'IGL02370:Aldh9a1'
ID290887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh9a1
Ensembl Gene ENSMUSG00000026687
Gene Namealdehyde dehydrogenase 9, subfamily A1
SynonymsESTM40, TMABA-DH
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02370
Quality Score
Status
Chromosome1
Chromosomal Location167349991-167368532 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 167356532 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 199 (N199D)
Ref Sequence ENSEMBL: ENSMUSP00000028004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028004]
Predicted Effect probably damaging
Transcript: ENSMUST00000028004
AA Change: N199D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028004
Gene: ENSMUSG00000026687
AA Change: N199D

DomainStartEndE-ValueType
Pfam:Aldedh 46 507 1.5e-174 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193091
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194843
Coding Region Coverage
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. 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik A G 9: 103,263,074 V482A probably benign Het
4732471J01Rik T C 7: 25,384,888 probably benign Het
Abra T C 15: 41,869,244 D142G probably damaging Het
Baz2b A T 2: 59,923,589 I1130N possibly damaging Het
Cacna1s A G 1: 136,085,347 I312V probably damaging Het
Chrd A G 16: 20,735,791 M367V possibly damaging Het
Clec12a C T 6: 129,354,576 A160V possibly damaging Het
Cnnm1 T C 19: 43,471,950 probably null Het
Cntnap3 A T 13: 64,751,751 M976K probably benign Het
Cyp27b1 T C 10: 127,050,674 probably benign Het
Ddx54 T A 5: 120,619,787 L226Q probably damaging Het
Dnah7a A G 1: 53,635,397 V407A probably benign Het
Elp4 A G 2: 105,794,592 S201P probably damaging Het
Exoc3 A T 13: 74,192,761 V308D probably benign Het
Exosc3 A G 4: 45,319,671 I117T probably damaging Het
Gbx2 A T 1: 89,929,149 probably benign Het
Gm4858 A G 3: 93,074,047 D124G possibly damaging Het
Hnf1b A C 11: 83,882,733 T253P possibly damaging Het
Itih5 A T 2: 10,186,975 Y107F probably benign Het
Kcnb2 A G 1: 15,710,935 N677S probably benign Het
Knstrn T A 2: 118,823,788 probably null Het
Lin9 G T 1: 180,688,018 C451F probably damaging Het
Mast1 A C 8: 84,912,254 V1482G probably benign Het
Mroh4 A G 15: 74,625,541 F144L probably benign Het
Myrf T C 19: 10,214,140 N945D probably benign Het
Nfrkb G A 9: 31,389,012 G33D probably benign Het
Olfr1036 C A 2: 86,074,788 T16K probably damaging Het
P2ry13 T C 3: 59,209,465 I297M probably damaging Het
Pcdhb21 T A 18: 37,514,592 probably null Het
Pitpnm3 A G 11: 72,051,858 Y868H probably benign Het
Pou2f3 G A 9: 43,137,348 R266W probably damaging Het
Rcn3 T C 7: 45,083,333 S304G probably benign Het
Rinl A G 7: 28,794,972 probably null Het
Sema5a T C 15: 32,682,299 probably benign Het
Sipa1l2 A G 8: 125,480,269 L565P probably damaging Het
Slc5a9 A G 4: 111,877,629 I656T probably benign Het
Sptan1 A G 2: 30,030,740 K2404R probably damaging Het
Tarsl2 C A 7: 65,661,165 P314Q probably benign Het
Tbc1d14 C T 5: 36,495,218 V627I possibly damaging Het
Tfcp2 A T 15: 100,512,304 V394D probably damaging Het
Trerf1 C T 17: 47,314,461 noncoding transcript Het
Ucp2 A G 7: 100,498,384 N190S probably damaging Het
Vmn2r124 A G 17: 18,064,191 Q498R probably benign Het
Yeats2 T A 16: 20,150,471 I4N probably damaging Het
Zfp574 T G 7: 25,079,589 I12S possibly damaging Het
Zscan29 T A 2: 121,163,833 E522V probably benign Het
Other mutations in Aldh9a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01126:Aldh9a1 APN 1 167364574 missense probably benign 0.21
IGL01432:Aldh9a1 APN 1 167355785 missense probably damaging 1.00
yummy UTSW 1 167352559 missense probably damaging 1.00
R0033:Aldh9a1 UTSW 1 167356571 missense probably damaging 0.99
R0197:Aldh9a1 UTSW 1 167361847 missense probably damaging 0.99
R0520:Aldh9a1 UTSW 1 167361391 splice site probably benign
R0836:Aldh9a1 UTSW 1 167350255 missense probably benign 0.03
R1224:Aldh9a1 UTSW 1 167352658 missense probably damaging 0.99
R1340:Aldh9a1 UTSW 1 167357344 missense probably benign 0.00
R1829:Aldh9a1 UTSW 1 167361854 missense probably benign 0.07
R2849:Aldh9a1 UTSW 1 167352628 missense probably damaging 0.98
R4937:Aldh9a1 UTSW 1 167361807 missense probably damaging 0.96
R4965:Aldh9a1 UTSW 1 167365789 missense probably damaging 1.00
R5065:Aldh9a1 UTSW 1 167352559 missense probably damaging 1.00
R6578:Aldh9a1 UTSW 1 167355759 missense probably damaging 1.00
R7111:Aldh9a1 UTSW 1 167354452 missense probably benign 0.31
R7184:Aldh9a1 UTSW 1 167357396 missense probably benign 0.05
R7531:Aldh9a1 UTSW 1 167350326 missense probably benign
R7673:Aldh9a1 UTSW 1 167361550 missense probably benign 0.35
Posted On2015-04-16