Incidental Mutation 'R6451:Akr1d1'
ID 516341
Institutional Source Beutler Lab
Gene Symbol Akr1d1
Ensembl Gene ENSMUSG00000038641
Gene Name aldo-keto reductase family 1, member D1
Synonyms
MMRRC Submission 044587-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6451 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 37507108-37545750 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 37527150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 129 (E129K)
Ref Sequence ENSEMBL: ENSMUSP00000048830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040987]
AlphaFold Q8VCX1
Predicted Effect probably benign
Transcript: ENSMUST00000040987
AA Change: E129K

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000048830
Gene: ENSMUSG00000038641
AA Change: E129K

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 20 303 2.7e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123648
Meta Mutation Damage Score 0.1217 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 98% (39/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,842,733 (GRCm39) V1164E probably damaging Het
Acnat2 A G 4: 49,380,262 (GRCm39) V372A probably benign Het
Adam17 A T 12: 21,392,883 (GRCm39) D313E probably benign Het
Adgrf5 A T 17: 43,735,709 (GRCm39) R200* probably null Het
Arhgap29 T A 3: 121,787,230 (GRCm39) V382E probably damaging Het
Arhgef40 G A 14: 52,238,456 (GRCm39) V1312I probably damaging Het
Bbs9 A G 9: 22,479,060 (GRCm39) S168G probably damaging Het
Carmil1 T A 13: 24,276,541 (GRCm39) K202* probably null Het
Cnep1r1 A G 8: 88,846,438 (GRCm39) E19G probably damaging Het
Dnah1 T A 14: 31,022,765 (GRCm39) Q1124L probably benign Het
Dph1 G T 11: 75,072,143 (GRCm39) A242D probably damaging Het
Efcab7 T A 4: 99,719,738 (GRCm39) Y73* probably null Het
Esp18 G T 17: 39,720,853 (GRCm39) E33* probably null Het
Fbln2 T A 6: 91,211,241 (GRCm39) I395K probably benign Het
Grin3a C T 4: 49,844,969 (GRCm39) C38Y probably damaging Het
Hivep3 T A 4: 119,956,105 (GRCm39) S1474T probably benign Het
Hmcn1 C T 1: 150,868,670 (GRCm39) V45M probably damaging Het
Intu T A 3: 40,655,723 (GRCm39) F937I possibly damaging Het
Llgl2 G A 11: 115,735,767 (GRCm39) G121D probably damaging Het
Myo7a C T 7: 97,722,374 (GRCm39) V1184M probably benign Het
Nsmce4a G T 7: 130,144,479 (GRCm39) Het
Or5w20 T C 2: 87,726,935 (GRCm39) Y131H probably damaging Het
Or6c69c A T 10: 129,911,007 (GRCm39) M243L probably benign Het
Phactr1 T A 13: 43,286,469 (GRCm39) V590E probably damaging Het
Pigo G A 4: 43,021,412 (GRCm39) S510L probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Rnf19a A G 15: 36,253,205 (GRCm39) I378T possibly damaging Het
Rnf216 G T 5: 142,978,589 (GRCm39) P793T possibly damaging Het
Samd8 T C 14: 21,833,866 (GRCm39) probably null Het
Son T A 16: 91,454,490 (GRCm39) M1079K probably damaging Het
Spata7 T A 12: 98,624,596 (GRCm39) M166K probably benign Het
Spta1 G A 1: 174,044,767 (GRCm39) E1468K probably damaging Het
Taar3 A T 10: 23,825,705 (GRCm39) I84F possibly damaging Het
Tas2r107 T A 6: 131,636,977 (GRCm39) D24V possibly damaging Het
Tmc2 A G 2: 130,106,123 (GRCm39) R885G probably damaging Het
Tox3 C A 8: 90,984,687 (GRCm39) R164L probably benign Het
Ttc5 A G 14: 51,004,664 (GRCm39) I380T probably damaging Het
Vmn1r179 A G 7: 23,628,076 (GRCm39) N89S possibly damaging Het
Zfp944 T C 17: 22,557,846 (GRCm39) E467G probably benign Het
Zzef1 A T 11: 72,813,982 (GRCm39) D2857V possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- TTAGAACACAGCTGTCAGTGC -3'
(R):5'- ATGTAACGACTTCAGCTCTCAGG -3'

Sequencing Primer
(F):5'- CAGCTGTCAGTGCCATCTTATAATG -3'
(R):5'- GACTTCAGCTCTCAGGGCTTG -3'
Posted On 2018-05-21