Incidental Mutation 'IGL01784:Aldh3b1'
ID154246
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh3b1
Ensembl Gene ENSMUSG00000024885
Gene Namealdehyde dehydrogenase 3 family, member B1
Synonyms1700001N19Rik, ALDH7, ALDH4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL01784
Quality Score
Status
Chromosome19
Chromosomal Location3913493-3929761 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 3921217 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 149 (I149T)
Ref Sequence ENSEMBL: ENSMUSP00000056276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051803]
Predicted Effect probably benign
Transcript: ENSMUST00000051803
AA Change: I149T

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000056276
Gene: ENSMUSG00000024885
AA Change: I149T

DomainStartEndE-ValueType
Pfam:Aldedh 2 428 7.4e-88 PFAM
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,880,619 P309L possibly damaging Het
Abca4 A T 3: 122,138,505 K269N probably benign Het
Abcb5 T C 12: 118,890,664 T839A probably benign Het
Adcy7 A G 8: 88,314,123 D30G probably damaging Het
Ap3b1 A G 13: 94,493,739 D199G probably damaging Het
Ddo A G 10: 40,631,788 probably benign Het
Ensa T A 3: 95,628,533 probably benign Het
Etnppl A G 3: 130,631,778 I405V possibly damaging Het
Fam129a T A 1: 151,649,365 Y174N probably damaging Het
Fam171b T A 2: 83,879,687 L568M possibly damaging Het
Fmn2 A G 1: 174,502,428 D128G unknown Het
Fra10ac1 T A 19: 38,219,677 H43L probably benign Het
Gm10436 A G 12: 88,176,315 Y178H probably benign Het
Gm7589 T C 9: 59,146,027 noncoding transcript Het
Gsx1 A G 5: 147,190,129 D254G probably benign Het
Hoxb6 A G 11: 96,300,813 E187G probably damaging Het
Kmt2c A T 5: 25,313,526 I2385N probably damaging Het
Lman1l T C 9: 57,620,564 Y36C probably damaging Het
Mc3r T A 2: 172,249,370 C171S probably benign Het
Mccc1 T G 3: 35,976,748 N390H probably damaging Het
Mphosph9 T C 5: 124,265,310 probably benign Het
Nfic T C 10: 81,406,148 D364G possibly damaging Het
Npy A G 6: 49,829,334 probably benign Het
Olfr767 C T 10: 129,079,355 V203M probably benign Het
Osbpl3 A G 6: 50,344,922 S75P probably damaging Het
Plekhg4 G T 8: 105,378,957 A685S probably damaging Het
Prss53 T C 7: 127,886,552 T539A probably benign Het
Rnf43 T A 11: 87,731,806 S537T possibly damaging Het
Rpgrip1l G A 8: 91,270,461 T597I possibly damaging Het
Rtn4 C A 11: 29,707,291 Q482K probably damaging Het
Sema3g T C 14: 31,222,967 I349T probably damaging Het
Sh3gl1 A C 17: 56,019,325 S108A possibly damaging Het
Tmc7 A T 7: 118,547,315 probably null Het
Tmem131 G A 1: 36,815,483 T131I probably damaging Het
Vac14 T C 8: 110,671,168 L505P probably benign Het
Wasf2 A G 4: 133,192,128 Q231R unknown Het
Wnt7a A G 6: 91,365,857 C348R probably damaging Het
Zkscan6 T A 11: 65,814,721 L86Q probably damaging Het
Other mutations in Aldh3b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Aldh3b1 APN 19 3918104 missense probably benign 0.03
IGL01402:Aldh3b1 APN 19 3921205 missense probably benign 0.01
IGL01404:Aldh3b1 APN 19 3921205 missense probably benign 0.01
IGL02608:Aldh3b1 APN 19 3914061 missense probably damaging 1.00
IGL03223:Aldh3b1 APN 19 3915329 missense probably damaging 0.98
R0320:Aldh3b1 UTSW 19 3918999 splice site probably benign
R0472:Aldh3b1 UTSW 19 3914024 missense probably damaging 1.00
R0609:Aldh3b1 UTSW 19 3914024 missense probably damaging 1.00
R1272:Aldh3b1 UTSW 19 3921746 missense probably damaging 1.00
R1721:Aldh3b1 UTSW 19 3921271 splice site probably benign
R1769:Aldh3b1 UTSW 19 3918740 missense probably damaging 1.00
R1868:Aldh3b1 UTSW 19 3921271 splice site probably benign
R1911:Aldh3b1 UTSW 19 3921187 missense probably damaging 0.99
R1912:Aldh3b1 UTSW 19 3921187 missense probably damaging 0.99
R2067:Aldh3b1 UTSW 19 3921755 missense probably benign 0.01
R2913:Aldh3b1 UTSW 19 3921275 splice site probably benign
R4133:Aldh3b1 UTSW 19 3920808 missense probably damaging 1.00
R5129:Aldh3b1 UTSW 19 3915336 missense probably benign 0.01
R7764:Aldh3b1 UTSW 19 3921563 nonsense probably null
Posted On2014-02-04