Incidental Mutation 'IGL02488:Akr1d1'
ID295502
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr1d1
Ensembl Gene ENSMUSG00000038641
Gene Namealdo-keto reductase family 1, member D1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02488
Quality Score
Status
Chromosome6
Chromosomal Location37530173-37568815 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 37567160 bp
ZygosityHeterozygous
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]
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: 24,792,006 D417N probably damaging Het
Ankrd34a A G 3: 96,598,913 I478V probably benign Het
C8b A G 4: 104,804,081 H498R probably benign Het
Cct6a T G 5: 129,789,821 probably benign Het
Enpp7 C A 11: 118,988,814 T98N probably damaging Het
Fcna A T 2: 25,625,211 probably null Het
Gtdc1 A G 2: 44,825,439 Y31H probably benign Het
Gzme A T 14: 56,118,392 N154K probably benign Het
Hectd4 T C 5: 121,292,087 V849A probably benign Het
Hps1 C T 19: 42,757,788 probably benign Het
Incenp A T 19: 9,893,407 I286N unknown Het
Matn1 G T 4: 130,944,493 V24F probably benign Het
Mcm3ap A G 10: 76,499,649 T1302A probably damaging Het
Megf10 A G 18: 57,292,632 Y1030C probably damaging Het
Mpdu1 T C 11: 69,658,609 T87A probably damaging Het
Olfr347 T A 2: 36,734,350 S10T probably benign Het
Olfr648 T A 7: 104,180,271 I46F possibly damaging Het
Pde6h A G 6: 136,963,266 probably null Het
Pkhd1l1 A G 15: 44,558,597 I3088V probably benign Het
Plec G T 15: 76,179,159 T2259K possibly damaging Het
Ptch2 C T 4: 117,110,396 R754C probably damaging Het
Ptpn12 T C 5: 21,022,062 T81A possibly damaging Het
Sars2 C T 7: 28,742,160 R49* probably null Het
Scyl1 G T 19: 5,770,313 Y164* probably null Het
Smarcd1 T C 15: 99,711,201 C419R possibly damaging Het
Syne2 C A 12: 75,965,738 R2568S probably benign Het
Tap2 A G 17: 34,214,642 probably benign Het
Thrb T A 14: 18,033,455 I406K probably damaging Het
Tnn T A 1: 160,140,593 I410F probably benign Het
Tns2 T C 15: 102,112,743 S940P probably benign Het
Trav6-2 A G 14: 52,667,786 K88R probably benign Het
Ttbk2 T C 2: 120,755,871 M386V probably benign Het
Vldlr A G 19: 27,238,275 E224G probably damaging Het
Vmn1r46 T A 6: 89,976,981 C271S probably benign Het
Zfhx2 T C 14: 55,065,103 E1808G possibly damaging Het
Zfp385a A G 15: 103,320,306 I42T probably damaging Het
Other mutations in Akr1d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01686:Akr1d1 APN 6 37530243 start gained probably benign
IGL01927:Akr1d1 APN 6 37564459 missense probably benign 0.35
IGL02376:Akr1d1 APN 6 37530285 missense probably damaging 0.99
IGL02490:Akr1d1 APN 6 37558488 missense probably damaging 1.00
IGL02685:Akr1d1 APN 6 37530343 splice site probably benign
R0963:Akr1d1 UTSW 6 37530274 missense probably damaging 0.98
R1962:Akr1d1 UTSW 6 37536048 missense probably benign 0.01
R1985:Akr1d1 UTSW 6 37558401 missense probably damaging 1.00
R4082:Akr1d1 UTSW 6 37557489 missense probably damaging 1.00
R4736:Akr1d1 UTSW 6 37557600 critical splice donor site probably null
R4850:Akr1d1 UTSW 6 37554587 unclassified probably null
R4860:Akr1d1 UTSW 6 37564491 missense probably damaging 1.00
R4860:Akr1d1 UTSW 6 37564491 missense probably damaging 1.00
R4883:Akr1d1 UTSW 6 37558401 missense possibly damaging 0.84
R5226:Akr1d1 UTSW 6 37536014 splice site probably null
R6024:Akr1d1 UTSW 6 37558482 missense probably benign 0.01
R6451:Akr1d1 UTSW 6 37550215 missense probably benign 0.06
R7538:Akr1d1 UTSW 6 37536108 missense probably benign 0.37
Posted On2015-04-16