Incidental Mutation 'IGL02488:Akr1d1'
ID 295502
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 # IGL02488
Quality Score
Status
Chromosome 6
Chromosomal Location 37507108-37545750 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37544095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 324 (E324D)
Ref Sequence ENSEMBL: ENSMUSP00000048830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040987]
AlphaFold Q8VCX1
Predicted Effect probably benign
Transcript: ENSMUST00000040987
AA Change: E324D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048830
Gene: ENSMUSG00000038641
AA Change: E324D

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 25,282,022 (GRCm39) D417N probably damaging Het
Ankrd34a A G 3: 96,506,229 (GRCm39) I478V probably benign Het
C8b A G 4: 104,661,278 (GRCm39) H498R probably benign Het
Cct6a T G 5: 129,866,885 (GRCm39) probably benign Het
Enpp7 C A 11: 118,879,640 (GRCm39) T98N probably damaging Het
Fcna A T 2: 25,515,223 (GRCm39) probably null Het
Gtdc1 A G 2: 44,715,451 (GRCm39) Y31H probably benign Het
Gzme A T 14: 56,355,849 (GRCm39) N154K probably benign Het
Hectd4 T C 5: 121,430,150 (GRCm39) V849A probably benign Het
Hps1 C T 19: 42,746,227 (GRCm39) probably benign Het
Incenp A T 19: 9,870,771 (GRCm39) I286N unknown Het
Matn1 G T 4: 130,671,804 (GRCm39) V24F probably benign Het
Mcm3ap A G 10: 76,335,483 (GRCm39) T1302A probably damaging Het
Megf10 A G 18: 57,425,704 (GRCm39) Y1030C probably damaging Het
Mpdu1 T C 11: 69,549,435 (GRCm39) T87A probably damaging Het
Or1j18 T A 2: 36,624,362 (GRCm39) S10T probably benign Het
Or52h1 T A 7: 103,829,478 (GRCm39) I46F possibly damaging Het
Pde6h A G 6: 136,940,264 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,421,993 (GRCm39) I3088V probably benign Het
Plec G T 15: 76,063,359 (GRCm39) T2259K possibly damaging Het
Ptch2 C T 4: 116,967,593 (GRCm39) R754C probably damaging Het
Ptpn12 T C 5: 21,227,060 (GRCm39) T81A possibly damaging Het
Sars2 C T 7: 28,441,585 (GRCm39) R49* probably null Het
Scyl1 G T 19: 5,820,341 (GRCm39) Y164* probably null Het
Smarcd1 T C 15: 99,609,082 (GRCm39) C419R possibly damaging Het
Syne2 C A 12: 76,012,512 (GRCm39) R2568S probably benign Het
Tap2 A G 17: 34,433,616 (GRCm39) probably benign Het
Thrb T A 14: 18,033,455 (GRCm38) I406K probably damaging Het
Tnn T A 1: 159,968,163 (GRCm39) I410F probably benign Het
Tns2 T C 15: 102,021,178 (GRCm39) S940P probably benign Het
Trav6-2 A G 14: 52,905,243 (GRCm39) K88R probably benign Het
Ttbk2 T C 2: 120,586,352 (GRCm39) M386V probably benign Het
Vldlr A G 19: 27,215,675 (GRCm39) E224G probably damaging Het
Vmn1r46 T A 6: 89,953,963 (GRCm39) C271S probably benign Het
Zfhx2 T C 14: 55,302,560 (GRCm39) E1808G possibly damaging Het
Zfp385a A G 15: 103,228,733 (GRCm39) I42T probably damaging Het
Other mutations in Akr1d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01686:Akr1d1 APN 6 37,507,178 (GRCm39) start gained probably benign
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
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 2015-04-16