Incidental Mutation 'R4931:Aldh1b1'
ID 380546
Institutional Source Beutler Lab
Gene Symbol Aldh1b1
Ensembl Gene ENSMUSG00000035561
Gene Name aldehyde dehydrogenase 1 family, member B1
Synonyms 2700007F14Rik
MMRRC Submission 042532-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4931 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 45799022-45804604 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 45803661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 400 (I400L)
Ref Sequence ENSEMBL: ENSMUSP00000041260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044384] [ENSMUST00000172750]
AlphaFold Q9CZS1
Predicted Effect probably benign
Transcript: ENSMUST00000044384
AA Change: I400L

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000041260
Gene: ENSMUSG00000035561
AA Change: I400L

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
Meta Mutation Damage Score 0.1035 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (78/82)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,643,875 (GRCm39) D21G probably benign Het
4930562C15Rik T C 16: 4,678,910 (GRCm39) L68P possibly damaging Het
Ache A G 5: 137,290,176 (GRCm39) I414V probably benign Het
Acy1 G A 9: 106,310,390 (GRCm39) H308Y probably damaging Het
Ankrd40 T A 11: 94,225,647 (GRCm39) L226Q probably benign Het
B3gnt9 T C 8: 105,980,876 (GRCm39) T171A probably benign Het
Ccdc33 T C 9: 57,977,134 (GRCm39) Y289C probably damaging Het
Cd209f A T 8: 4,153,688 (GRCm39) I187N probably damaging Het
Cers6 T G 2: 68,935,456 (GRCm39) S319A probably damaging Het
Chrna4 A G 2: 180,670,665 (GRCm39) S364P probably benign Het
Chrnb3 T C 8: 27,884,258 (GRCm39) S317P probably damaging Het
Dapk1 T C 13: 60,908,774 (GRCm39) V1129A probably benign Het
Dhx9 G A 1: 153,348,419 (GRCm39) P302L probably benign Het
Dnaaf9 A G 2: 130,583,793 (GRCm39) F496L possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Duox2 T C 2: 122,127,236 (GRCm39) N147S probably benign Het
Dytn T G 1: 63,672,837 (GRCm39) E522A probably benign Het
E130114P18Rik T C 4: 97,608,524 (GRCm39) D27G unknown Het
Egf A G 3: 129,505,117 (GRCm39) F118S probably damaging Het
Eif2d T A 1: 131,082,128 (GRCm39) F73L probably damaging Het
Eps8l1 A G 7: 4,474,240 (GRCm39) E237G possibly damaging Het
Espl1 A G 15: 102,214,165 (GRCm39) E664G probably benign Het
Fbrsl1 A T 5: 110,526,895 (GRCm39) S373T possibly damaging Het
Fras1 T A 5: 96,784,699 (GRCm39) F894Y probably benign Het
Gpatch8 T C 11: 102,372,050 (GRCm39) E496G unknown Het
Gucy1a2 A G 9: 3,759,588 (GRCm39) K465E probably damaging Het
Igdcc4 A G 9: 65,031,297 (GRCm39) T459A possibly damaging Het
Itgad A T 7: 127,803,797 (GRCm39) I64F probably damaging Het
Itgb2l T A 16: 96,238,649 (GRCm39) N50I probably damaging Het
Kif13a A G 13: 46,962,531 (GRCm39) I478T probably damaging Het
Krt31 G A 11: 99,940,983 (GRCm39) T109I probably benign Het
Ltbr G T 6: 125,284,437 (GRCm39) probably null Het
Magel2 A G 7: 62,030,372 (GRCm39) D1092G unknown Het
Minar1 T C 9: 89,483,705 (GRCm39) H564R probably benign Het
Mindy3 A T 2: 12,401,024 (GRCm39) N231K probably damaging Het
Mpnd T G 17: 56,319,362 (GRCm39) probably benign Het
Mtus2 C T 5: 148,014,226 (GRCm39) L340F probably benign Het
Nanog G A 6: 122,684,865 (GRCm39) A17T possibly damaging Het
Ndufa9 G T 6: 126,813,283 (GRCm39) A181E probably damaging Het
Or52z14 T G 7: 103,253,581 (GRCm39) L240R probably benign Het
Or7e175 A T 9: 20,048,858 (GRCm39) I149F probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,059,755 (GRCm39) probably benign Het
Pramel18 T C 4: 101,766,367 (GRCm39) V17A possibly damaging Het
Prkacb T C 3: 146,453,732 (GRCm39) I211V possibly damaging Het
Ptpn14 C G 1: 189,583,474 (GRCm39) L774V probably benign Het
Rad1 T C 15: 10,492,848 (GRCm39) probably benign Het
Rims1 G T 1: 22,573,028 (GRCm39) P391Q probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sf3b3 C T 8: 111,542,961 (GRCm39) R832Q probably benign Het
Slc12a2 A G 18: 58,068,035 (GRCm39) D975G possibly damaging Het
Slitrk6 A G 14: 110,987,811 (GRCm39) L632P probably damaging Het
Spire2 A G 8: 124,095,523 (GRCm39) D542G possibly damaging Het
Sppl3 A T 5: 115,220,373 (GRCm39) Q95L probably damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Tcl1 G T 12: 105,188,872 (GRCm39) H14N probably damaging Het
Ten1 T C 11: 116,096,555 (GRCm39) F70L probably benign Het
Tnfrsf13b A T 11: 61,031,763 (GRCm39) T35S possibly damaging Het
Tpcn2 G A 7: 144,821,046 (GRCm39) P336L probably benign Het
Trf C A 9: 103,105,247 (GRCm39) D22Y probably damaging Het
Ttyh1 A G 7: 4,136,943 (GRCm39) probably benign Het
Vmn2r103 A T 17: 20,032,031 (GRCm39) I602F probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp352 A G 4: 90,112,541 (GRCm39) Y227C probably damaging Het
Zfp599 A T 9: 22,169,419 (GRCm39) W18R probably damaging Het
Other mutations in Aldh1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01731:Aldh1b1 APN 4 45,803,472 (GRCm39) missense possibly damaging 0.87
R0557:Aldh1b1 UTSW 4 45,802,647 (GRCm39) missense probably benign 0.00
R1203:Aldh1b1 UTSW 4 45,803,359 (GRCm39) missense probably damaging 1.00
R1807:Aldh1b1 UTSW 4 45,802,873 (GRCm39) missense possibly damaging 0.69
R1939:Aldh1b1 UTSW 4 45,802,755 (GRCm39) missense possibly damaging 0.53
R4722:Aldh1b1 UTSW 4 45,803,472 (GRCm39) missense probably damaging 1.00
R4847:Aldh1b1 UTSW 4 45,802,625 (GRCm39) missense possibly damaging 0.92
R4871:Aldh1b1 UTSW 4 45,803,383 (GRCm39) missense probably benign 0.00
R4994:Aldh1b1 UTSW 4 45,803,128 (GRCm39) missense possibly damaging 0.90
R5071:Aldh1b1 UTSW 4 45,803,383 (GRCm39) splice site probably null
R5216:Aldh1b1 UTSW 4 45,803,652 (GRCm39) missense probably damaging 1.00
R5582:Aldh1b1 UTSW 4 45,802,750 (GRCm39) missense probably damaging 1.00
R6077:Aldh1b1 UTSW 4 45,802,525 (GRCm39) missense possibly damaging 0.92
R6640:Aldh1b1 UTSW 4 45,803,868 (GRCm39) missense possibly damaging 0.92
R6692:Aldh1b1 UTSW 4 45,803,427 (GRCm39) missense probably damaging 1.00
R7055:Aldh1b1 UTSW 4 45,802,909 (GRCm39) missense possibly damaging 0.84
R7935:Aldh1b1 UTSW 4 45,802,968 (GRCm39) missense probably benign 0.13
R7949:Aldh1b1 UTSW 4 45,802,807 (GRCm39) missense possibly damaging 0.53
R7976:Aldh1b1 UTSW 4 45,803,092 (GRCm39) missense possibly damaging 0.92
R8441:Aldh1b1 UTSW 4 45,802,465 (GRCm39) start codon destroyed probably null
R8515:Aldh1b1 UTSW 4 45,803,818 (GRCm39) missense probably damaging 1.00
R8698:Aldh1b1 UTSW 4 45,802,942 (GRCm39) missense probably damaging 1.00
R8995:Aldh1b1 UTSW 4 45,803,413 (GRCm39) missense possibly damaging 0.48
R9303:Aldh1b1 UTSW 4 45,803,811 (GRCm39) missense probably damaging 0.98
R9305:Aldh1b1 UTSW 4 45,803,811 (GRCm39) missense probably damaging 0.98
R9504:Aldh1b1 UTSW 4 45,802,905 (GRCm39) missense probably damaging 0.96
Z1088:Aldh1b1 UTSW 4 45,802,540 (GRCm39) missense probably benign 0.11
Z1088:Aldh1b1 UTSW 4 45,802,539 (GRCm39) missense probably benign 0.06
Z1177:Aldh1b1 UTSW 4 45,802,692 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAAGAGTCCATCTACCGTG -3'
(R):5'- GCGTGAAGTAGATGGCCTTGTC -3'

Sequencing Primer
(F):5'- CTACCGTGAGTTTCTCGAGAGAAC -3'
(R):5'- CTTGTCCAGGTCTCGGGTGAAC -3'
Posted On 2016-04-15