Incidental Mutation 'IGL01731:Aldh1b1'
ID105493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh1b1
Ensembl Gene ENSMUSG00000035561
Gene Namealdehyde dehydrogenase 1 family, member B1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01731
Quality Score
Status
Chromosome4
Chromosomal Location45799022-45804604 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45803472 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 337 (F337L)
Ref Sequence ENSEMBL: ENSMUSP00000041260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044384] [ENSMUST00000172750]
Predicted Effect possibly damaging
Transcript: ENSMUST00000044384
AA Change: F337L

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000041260
Gene: ENSMUSG00000035561
AA Change: F337L

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:Aldedh 47 510 1.5e-185 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172750
SMART Domains Protein: ENSMUSP00000134082
Gene: ENSMUSG00000035561

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:Aldedh 47 132 1.4e-23 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 protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased fasting circulating glucose levels and decreased blood acetaldehyde clearance. Mice homozygous for a different knock-out allele display defects in beta cell development and functionality, and develop glucose intolerance, age-dependent hyperglycemia, and insulin resistance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430093F15Rik T A 19: 10,785,347 probably benign Het
Abca13 T C 11: 9,249,749 probably benign Het
Abcc6 G A 7: 46,002,610 P611L possibly damaging Het
Acsl6 A G 11: 54,350,559 E547G probably benign Het
Alg1 C T 16: 5,244,519 R422C probably benign Het
Ankrd23 A G 1: 36,534,066 L75S probably damaging Het
Arid5b T C 10: 68,097,609 H578R probably damaging Het
Atp10a G T 7: 58,797,562 W684L probably benign Het
Bzw2 T C 12: 36,107,648 probably null Het
C2cd2 A T 16: 97,870,172 I509K probably damaging Het
Card11 T C 5: 140,882,302 T864A possibly damaging Het
Ces1f A G 8: 93,267,320 S278P possibly damaging Het
Chd8 T C 14: 52,212,654 I208V probably benign Het
Cstf2t T C 19: 31,084,338 S425P probably benign Het
Cxcl1 A G 5: 90,891,577 T60A probably benign Het
Diaph1 G T 18: 37,853,709 probably benign Het
Exoc3l T G 8: 105,292,955 K394T probably benign Het
Fabp4 T C 3: 10,205,233 probably benign Het
Fam234b T A 6: 135,211,905 F169L possibly damaging Het
Hectd1 C A 12: 51,802,810 D204Y possibly damaging Het
Hephl1 A T 9: 15,069,770 Y789N probably damaging Het
Igfbp6 C A 15: 102,144,817 N90K probably benign Het
Khdrbs1 A T 4: 129,725,669 D226E probably benign Het
Lipo4 T A 19: 33,512,613 Q163L probably damaging Het
Med13l T C 5: 118,742,407 I1188T probably benign Het
Mki67 T C 7: 135,696,549 E2252G probably benign Het
Nepn G T 10: 52,400,564 R132L probably benign Het
Nlrp9b T A 7: 20,023,417 L193* probably null Het
Ntn1 A G 11: 68,385,418 S235P probably damaging Het
Nup210l G T 3: 90,154,566 R684L probably damaging Het
Obp2b A G 2: 25,739,281 S154G possibly damaging Het
Olfr1129 A G 2: 87,575,938 T285A probably benign Het
Olfr1308 A G 2: 111,960,635 V146A probably benign Het
Olfr491 A T 7: 108,317,475 I194F probably benign Het
Olfr623 T A 7: 103,660,846 T135S probably benign Het
Polr3b A T 10: 84,631,840 R95* probably null Het
Prelid2 C T 18: 41,937,649 V40M probably benign Het
Ptprb T G 10: 116,372,876 L2205R probably damaging Het
R3hcc1l T C 19: 42,562,801 V79A probably benign Het
Rnf219 T C 14: 104,479,302 D545G probably damaging Het
Stam2 A G 2: 52,708,150 I259T probably damaging Het
Tdpoz4 A T 3: 93,796,882 N162I possibly damaging Het
Tuba3a A G 6: 125,282,758 V75A possibly damaging Het
Vmn2r73 A T 7: 85,857,549 *852K probably null Het
Wdr78 T C 4: 103,062,435 I139V probably benign Het
Zfp7 C T 15: 76,888,305 Q69* probably null Het
Zfp865 G T 7: 5,029,876 A287S probably benign Het
Zmpste24 T A 4: 121,097,884 Q39L probably benign Het
Other mutations in Aldh1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0557:Aldh1b1 UTSW 4 45802647 missense probably benign 0.00
R1203:Aldh1b1 UTSW 4 45803359 missense probably damaging 1.00
R1807:Aldh1b1 UTSW 4 45802873 missense possibly damaging 0.69
R1939:Aldh1b1 UTSW 4 45802755 missense possibly damaging 0.53
R4722:Aldh1b1 UTSW 4 45803472 missense probably damaging 1.00
R4847:Aldh1b1 UTSW 4 45802625 missense possibly damaging 0.92
R4871:Aldh1b1 UTSW 4 45803383 missense probably benign 0.00
R4931:Aldh1b1 UTSW 4 45803661 missense probably benign 0.08
R4994:Aldh1b1 UTSW 4 45803128 missense possibly damaging 0.90
R5071:Aldh1b1 UTSW 4 45803383 unclassified probably null
R5216:Aldh1b1 UTSW 4 45803652 missense probably damaging 1.00
R5582:Aldh1b1 UTSW 4 45802750 missense probably damaging 1.00
R6077:Aldh1b1 UTSW 4 45802525 missense possibly damaging 0.92
R6640:Aldh1b1 UTSW 4 45803868 missense possibly damaging 0.92
R6692:Aldh1b1 UTSW 4 45803427 missense probably damaging 1.00
R7055:Aldh1b1 UTSW 4 45802909 missense possibly damaging 0.84
Z1088:Aldh1b1 UTSW 4 45802539 missense probably benign 0.06
Z1088:Aldh1b1 UTSW 4 45802540 missense probably benign 0.11
Z1177:Aldh1b1 UTSW 4 45802692 missense probably damaging 1.00
Posted On2014-01-21