Incidental Mutation 'IGL01686:Akr1d1'
ID 103976
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr1d1
Ensembl Gene ENSMUSG00000038641
Gene Name aldo-keto reductase family 1, member D1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01686
Quality Score
Status
Chromosome 6
Chromosomal Location 37507108-37545750 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) C to T at 37507178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000048830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040987]
AlphaFold Q8VCX1
Predicted Effect probably benign
Transcript: ENSMUST00000040987
SMART Domains Protein: ENSMUSP00000048830
Gene: ENSMUSG00000038641

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 20 303 2.7e-49 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,548,801 (GRCm39) V1316A possibly damaging Het
Ada T G 2: 163,572,236 (GRCm39) K254N probably benign Het
Adamts17 A G 7: 66,490,037 (GRCm39) R40G probably benign Het
Aldh1l1 T A 6: 90,536,215 (GRCm39) probably benign Het
Bbox1 T A 2: 110,095,831 (GRCm39) I378F probably benign Het
BC028528 T C 3: 95,796,212 (GRCm39) N50S probably damaging Het
Casp8ap2 T A 4: 32,641,294 (GRCm39) S783T possibly damaging Het
Cmpk2 C T 12: 26,527,177 (GRCm39) R389W probably damaging Het
Cplx1 C T 5: 108,696,393 (GRCm39) probably null Het
Crim1 T C 17: 78,651,863 (GRCm39) L529P probably benign Het
Ctps1 A G 4: 120,411,183 (GRCm39) S278P probably benign Het
Defb21 C A 2: 152,416,821 (GRCm39) probably benign Het
Ecm1 T A 3: 95,643,376 (GRCm39) N308I probably benign Het
Flg2 T C 3: 93,109,591 (GRCm39) S540P unknown Het
Gabrp G T 11: 33,502,826 (GRCm39) S346* probably null Het
Gli2 C A 1: 118,776,165 (GRCm39) C419F probably damaging Het
Grid2 T A 6: 64,297,180 (GRCm39) F514L probably benign Het
Hormad1 T G 3: 95,485,580 (GRCm39) M256R probably benign Het
Itsn2 T G 12: 4,686,693 (GRCm39) probably benign Het
Klhl38 A T 15: 58,186,707 (GRCm39) D7E probably benign Het
Map3k1 G A 13: 111,891,196 (GRCm39) T1248I possibly damaging Het
Mki67 A T 7: 135,309,542 (GRCm39) V303E probably benign Het
Mterf4 A T 1: 93,232,443 (GRCm39) L136* probably null Het
Mtmr14 A G 6: 113,217,391 (GRCm39) D61G possibly damaging Het
Nf2 A T 11: 4,768,613 (GRCm39) D85E probably benign Het
Nmnat2 G T 1: 152,952,743 (GRCm39) probably benign Het
Olfm3 T A 3: 114,916,497 (GRCm39) D476E probably benign Het
Or14c45 T C 7: 86,175,986 (GRCm39) V7A probably benign Het
Or8b53 T A 9: 38,667,550 (GRCm39) C189S probably damaging Het
Pdia6 T C 12: 17,333,958 (GRCm39) probably benign Het
Prrg1 G A X: 77,527,388 (GRCm39) A47V probably damaging Het
Rgs22 A T 15: 36,103,981 (GRCm39) I160K probably benign Het
Sardh T C 2: 27,079,625 (GRCm39) Y889C probably damaging Het
Syne2 C A 12: 75,956,110 (GRCm39) D605E probably benign Het
Other mutations in Akr1d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01927:Akr1d1 APN 6 37,541,394 (GRCm39) missense probably benign 0.35
IGL02376:Akr1d1 APN 6 37,507,220 (GRCm39) missense probably damaging 0.99
IGL02488:Akr1d1 APN 6 37,544,095 (GRCm39) missense probably benign 0.00
IGL02490:Akr1d1 APN 6 37,535,423 (GRCm39) missense probably damaging 1.00
IGL02685:Akr1d1 APN 6 37,507,278 (GRCm39) splice site probably benign
R0963:Akr1d1 UTSW 6 37,507,209 (GRCm39) missense probably damaging 0.98
R1962:Akr1d1 UTSW 6 37,512,983 (GRCm39) missense probably benign 0.01
R1985:Akr1d1 UTSW 6 37,535,336 (GRCm39) missense probably damaging 1.00
R4082:Akr1d1 UTSW 6 37,534,424 (GRCm39) missense probably damaging 1.00
R4736:Akr1d1 UTSW 6 37,534,535 (GRCm39) critical splice donor site probably null
R4850:Akr1d1 UTSW 6 37,531,522 (GRCm39) unclassified probably null
R4860:Akr1d1 UTSW 6 37,541,426 (GRCm39) missense probably damaging 1.00
R4860:Akr1d1 UTSW 6 37,541,426 (GRCm39) missense probably damaging 1.00
R4883:Akr1d1 UTSW 6 37,535,336 (GRCm39) missense possibly damaging 0.84
R5226:Akr1d1 UTSW 6 37,512,949 (GRCm39) splice site probably null
R6024:Akr1d1 UTSW 6 37,535,417 (GRCm39) missense probably benign 0.01
R6451:Akr1d1 UTSW 6 37,527,150 (GRCm39) missense probably benign 0.06
R7538:Akr1d1 UTSW 6 37,513,043 (GRCm39) missense probably benign 0.37
R9131:Akr1d1 UTSW 6 37,531,451 (GRCm39) missense probably benign 0.18
R9370:Akr1d1 UTSW 6 37,544,099 (GRCm39) makesense probably null
Posted On 2014-01-21