Incidental Mutation 'IGL02608:Aldh3b1'
ID 300349
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh3b1
Ensembl Gene ENSMUSG00000024885
Gene Name aldehyde dehydrogenase 3 family, member B1
Synonyms 1700001N19Rik, ALDH4, ALDH7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # IGL02608
Quality Score
Status
Chromosome 19
Chromosomal Location 3963491-3979808 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 3964061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 414 (H414N)
Ref Sequence ENSEMBL: ENSMUSP00000056276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051803] [ENSMUST00000075092]
AlphaFold Q80VQ0
Predicted Effect probably damaging
Transcript: ENSMUST00000051803
AA Change: H414N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056276
Gene: ENSMUSG00000024885
AA Change: H414N

DomainStartEndE-ValueType
Pfam:Aldedh 2 428 7.4e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075092
SMART Domains Protein: ENSMUSP00000074600
Gene: ENSMUSG00000059734

DomainStartEndE-ValueType
Pfam:Fer4_10 108 163 2.4e-9 PFAM
Pfam:Fer4 109 129 1.1e-6 PFAM
Pfam:Fer4_4 110 126 2e-5 PFAM
Pfam:Fer4_7 112 166 1e-13 PFAM
Pfam:Fer4_9 112 167 8.8e-10 PFAM
Pfam:Fer4 145 168 5.3e-10 PFAM
Pfam:Fer4_4 149 173 3.1e-3 PFAM
low complexity region 181 193 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded protein is able to oxidize long-chain fatty aldehydes in vitro, and may play a role in protection from oxidative stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas T A 15: 102,247,627 (GRCm39) M415L probably benign Het
Akap6 T C 12: 53,057,389 (GRCm39) S952P probably benign Het
Aldh3a1 A G 11: 61,107,147 (GRCm39) R284G probably damaging Het
Chd5 G A 4: 152,440,564 (GRCm39) M141I possibly damaging Het
Cntn2 C T 1: 132,453,654 (GRCm39) A340T possibly damaging Het
Daw1 T A 1: 83,187,055 (GRCm39) C288* probably null Het
Dcn A G 10: 97,319,319 (GRCm39) E32G probably damaging Het
Dock5 C T 14: 68,065,888 (GRCm39) V372M probably benign Het
Etf1 T C 18: 35,064,670 (GRCm39) E13G probably damaging Het
Filip1l A G 16: 57,392,469 (GRCm39) E781G probably benign Het
Gucy1a2 A G 9: 3,635,113 (GRCm39) I386V probably damaging Het
Gvin-ps5 T A 7: 105,928,876 (GRCm39) noncoding transcript Het
Hoxb5 T A 11: 96,195,969 (GRCm39) probably benign Het
Iqch T A 9: 63,329,110 (GRCm39) probably benign Het
Itgal C T 7: 126,909,416 (GRCm39) P423S probably damaging Het
Kti12 T G 4: 108,705,359 (GRCm39) L91R probably damaging Het
Lgals3 T C 14: 47,623,058 (GRCm39) M239T probably benign Het
Lrrc8a T C 2: 30,146,311 (GRCm39) M375T possibly damaging Het
Ly75 T C 2: 60,152,244 (GRCm39) E1103G probably benign Het
Lyst A T 13: 13,887,339 (GRCm39) E3056V probably damaging Het
Map3k7 T C 4: 31,981,452 (GRCm39) probably benign Het
Ncor1 G A 11: 62,264,040 (GRCm39) T180I probably benign Het
Nectin4 T C 1: 171,212,341 (GRCm39) V313A probably benign Het
Nol4l A G 2: 153,278,213 (GRCm39) S8P possibly damaging Het
Npas2 T A 1: 39,384,527 (GRCm39) S607T probably benign Het
Nup155 T A 15: 8,138,955 (GRCm39) M9K probably benign Het
Nwd1 T C 8: 73,394,003 (GRCm39) L422P probably damaging Het
Or14j3 T A 17: 37,901,110 (GRCm39) I45F probably damaging Het
Papola G T 12: 105,775,818 (GRCm39) G245C probably damaging Het
Pcdhb6 T C 18: 37,467,747 (GRCm39) S223P probably damaging Het
Pdcd4 T C 19: 53,915,638 (GRCm39) probably null Het
Pigg T C 5: 108,460,869 (GRCm39) F27L probably damaging Het
Prpf40a A T 2: 53,036,165 (GRCm39) M588K probably damaging Het
Psme4 A G 11: 30,770,944 (GRCm39) N764S probably benign Het
Ptar1 A C 19: 23,683,076 (GRCm39) E110A possibly damaging Het
Rbm12 A T 2: 155,937,818 (GRCm39) probably benign Het
Rfx7 A G 9: 72,524,576 (GRCm39) T589A probably benign Het
Rpl21-ps4 G T 14: 11,227,831 (GRCm38) noncoding transcript Het
Rpp38 T C 2: 3,330,198 (GRCm39) T235A probably benign Het
Sbno2 A T 10: 79,903,236 (GRCm39) probably null Het
Scn3a A T 2: 65,354,510 (GRCm39) C337* probably null Het
Sec61a2 T C 2: 5,879,073 (GRCm39) T312A probably benign Het
Snrpg C A 6: 86,353,550 (GRCm39) D43E probably damaging Het
Stag1 A T 9: 100,639,822 (GRCm39) Q126L probably null Het
Taar6 A G 10: 23,861,081 (GRCm39) V155A probably benign Het
Tet1 G A 10: 62,715,388 (GRCm39) H136Y possibly damaging Het
Tet1 C A 10: 62,674,866 (GRCm39) S1070I probably damaging Het
Tfcp2 T C 15: 100,411,991 (GRCm39) T327A possibly damaging Het
Tnfrsf13c C T 15: 82,107,364 (GRCm39) V144M probably damaging Het
Tnfrsf22 T A 7: 143,198,533 (GRCm39) K61* probably null Het
Trhr T C 15: 44,061,074 (GRCm39) V198A probably benign Het
Trp53inp2 A G 2: 155,228,569 (GRCm39) R175G probably damaging Het
Try10 G A 6: 41,332,421 (GRCm39) G26R probably damaging Het
Vmn1r205 A G 13: 22,776,370 (GRCm39) V244A probably damaging Het
Wrnip1 T A 13: 32,990,857 (GRCm39) L372H probably damaging Het
Zfp280d T A 9: 72,215,261 (GRCm39) L149Q probably damaging Het
Zfp445 A G 9: 122,690,940 (GRCm39) V85A probably damaging Het
Other mutations in Aldh3b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Aldh3b1 APN 19 3,968,104 (GRCm39) missense probably benign 0.03
IGL01402:Aldh3b1 APN 19 3,971,205 (GRCm39) missense probably benign 0.01
IGL01404:Aldh3b1 APN 19 3,971,205 (GRCm39) missense probably benign 0.01
IGL01784:Aldh3b1 APN 19 3,971,217 (GRCm39) missense probably benign 0.32
IGL03223:Aldh3b1 APN 19 3,965,329 (GRCm39) missense probably damaging 0.98
R0320:Aldh3b1 UTSW 19 3,968,999 (GRCm39) splice site probably benign
R0472:Aldh3b1 UTSW 19 3,964,024 (GRCm39) missense probably damaging 1.00
R0609:Aldh3b1 UTSW 19 3,964,024 (GRCm39) missense probably damaging 1.00
R1272:Aldh3b1 UTSW 19 3,971,746 (GRCm39) missense probably damaging 1.00
R1721:Aldh3b1 UTSW 19 3,971,271 (GRCm39) splice site probably benign
R1769:Aldh3b1 UTSW 19 3,968,740 (GRCm39) missense probably damaging 1.00
R1868:Aldh3b1 UTSW 19 3,971,271 (GRCm39) splice site probably benign
R1911:Aldh3b1 UTSW 19 3,971,187 (GRCm39) missense probably damaging 0.99
R1912:Aldh3b1 UTSW 19 3,971,187 (GRCm39) missense probably damaging 0.99
R2067:Aldh3b1 UTSW 19 3,971,755 (GRCm39) missense probably benign 0.01
R2913:Aldh3b1 UTSW 19 3,971,275 (GRCm39) splice site probably benign
R4133:Aldh3b1 UTSW 19 3,970,808 (GRCm39) missense probably damaging 1.00
R5129:Aldh3b1 UTSW 19 3,965,336 (GRCm39) missense probably benign 0.01
R7764:Aldh3b1 UTSW 19 3,971,563 (GRCm39) nonsense probably null
R8832:Aldh3b1 UTSW 19 3,964,025 (GRCm39) missense probably damaging 1.00
R8876:Aldh3b1 UTSW 19 3,971,502 (GRCm39) missense probably damaging 1.00
R8931:Aldh3b1 UTSW 19 3,968,803 (GRCm39) missense possibly damaging 0.86
R9024:Aldh3b1 UTSW 19 3,968,155 (GRCm39) missense probably damaging 1.00
R9111:Aldh3b1 UTSW 19 3,971,797 (GRCm39) missense probably damaging 1.00
R9253:Aldh3b1 UTSW 19 3,965,315 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16