Incidental Mutation 'R7003:Akr1c6'
ID 544686
Institutional Source Beutler Lab
Gene Symbol Akr1c6
Ensembl Gene ENSMUSG00000021210
Gene Name aldo-keto reductase family 1, member C6
Synonyms estradiol 17-beta-dehydrogenase (A-specific), Hsd17b5, 3alpha-HSD, Akr1c1
MMRRC Submission 045108-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R7003 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 4484354-4507529 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4504514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 300 (N300D)
Ref Sequence ENSEMBL: ENSMUSP00000021630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021630] [ENSMUST00000223118]
AlphaFold P70694
Predicted Effect probably benign
Transcript: ENSMUST00000021630
AA Change: N300D

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000021630
Gene: ENSMUSG00000021210
AA Change: N300D

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 2.2e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223118
AA Change: N122D

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T A 13: 111,392,490 (GRCm39) I275N probably damaging Het
Actr3b A C 5: 26,003,461 (GRCm39) Y21S probably damaging Het
Adam6b C T 12: 113,453,662 (GRCm39) Q160* probably null Het
Adgrv1 C T 13: 81,670,223 (GRCm39) probably null Het
Alox8 T C 11: 69,082,416 (GRCm39) D170G possibly damaging Het
Amhr2 A G 15: 102,354,768 (GRCm39) N40S probably benign Het
Ap2a2 A G 7: 141,209,109 (GRCm39) N767S probably benign Het
Armc3 T C 2: 19,274,839 (GRCm39) I358T probably damaging Het
Atg2b A G 12: 105,620,508 (GRCm39) S732P probably benign Het
Atp12a A G 14: 56,610,837 (GRCm39) Y327C possibly damaging Het
Bcr T C 10: 74,897,393 (GRCm39) V179A probably benign Het
Cep104 T C 4: 154,078,018 (GRCm39) L642P probably benign Het
Clspn T A 4: 126,486,513 (GRCm39) S1302R possibly damaging Het
Cmip T C 8: 118,111,727 (GRCm39) F153L probably benign Het
Cplane1 T G 15: 8,258,246 (GRCm39) L2164R probably damaging Het
D630039A03Rik T C 4: 57,910,521 (GRCm39) D97G probably damaging Het
Dok7 A T 5: 35,236,899 (GRCm39) T396S probably benign Het
Dsel C T 1: 111,788,025 (GRCm39) V837I probably benign Het
Etl4 C T 2: 20,810,695 (GRCm39) T926I probably benign Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gpr155 A G 2: 73,173,961 (GRCm39) I816T probably damaging Het
Hpn C T 7: 30,810,367 (GRCm39) probably benign Het
Inpp5e A G 2: 26,287,877 (GRCm39) S640P probably benign Het
Irs3 C T 5: 137,643,539 (GRCm39) V82I probably benign Het
Kif16b A C 2: 142,600,749 (GRCm39) D461E possibly damaging Het
Krba1 A G 6: 48,390,014 (GRCm39) T592A possibly damaging Het
Lgsn T A 1: 31,243,024 (GRCm39) S369T possibly damaging Het
Lrrc4b C T 7: 44,094,580 (GRCm39) P83S probably damaging Het
Mplkipl1 A G 19: 61,164,319 (GRCm39) S39P possibly damaging Het
Neil3 T C 8: 54,054,001 (GRCm39) T343A possibly damaging Het
Nt5e A G 9: 88,246,805 (GRCm39) Y347C probably damaging Het
Or1j1 A G 2: 36,703,047 (GRCm39) I19T possibly damaging Het
Or2d3b A T 7: 106,514,319 (GRCm39) T305S probably benign Het
Or2f2 C T 6: 42,767,399 (GRCm39) T142I probably benign Het
Or8g26 A T 9: 39,096,239 (GRCm39) Y255F probably benign Het
P2rx5 T C 11: 73,058,800 (GRCm39) probably null Het
Phtf2 A G 5: 20,999,399 (GRCm39) V248A probably benign Het
Plekhd1 T C 12: 80,768,734 (GRCm39) C406R possibly damaging Het
Plod3 T A 5: 137,018,498 (GRCm39) N245K probably damaging Het
Polr3c G T 3: 96,630,954 (GRCm39) H155Q possibly damaging Het
Psap T A 10: 60,135,276 (GRCm39) C317S probably damaging Het
Rif1 A G 2: 51,967,001 (GRCm39) I97V probably benign Het
Rnf123 T A 9: 107,940,882 (GRCm39) probably null Het
Rnf19a G A 15: 36,254,650 (GRCm39) R303* probably null Het
Sdk1 G A 5: 142,082,489 (GRCm39) V1036I probably benign Het
Shc3 T A 13: 51,620,588 (GRCm39) Y146F probably benign Het
Skint6 A G 4: 112,963,109 (GRCm39) Y441H probably benign Het
Slc7a12 T C 3: 14,570,580 (GRCm39) I173T probably damaging Het
Spesp1 A T 9: 62,189,302 (GRCm39) S15T possibly damaging Het
Tarm1 A T 7: 3,545,939 (GRCm39) probably null Het
Tenm3 T C 8: 48,693,479 (GRCm39) Y1817C probably damaging Het
Ttc9c A T 19: 8,795,904 (GRCm39) L45Q probably damaging Het
Ube3a C T 7: 58,926,188 (GRCm39) T322I probably damaging Het
Vac14 T A 8: 111,439,430 (GRCm39) V669E probably damaging Het
Vmn1r225 A G 17: 20,723,416 (GRCm39) M286V probably null Het
Zfp658 A G 7: 43,224,172 (GRCm39) K816E possibly damaging Het
Zfp846 T C 9: 20,499,188 (GRCm39) M1T probably null Het
Other mutations in Akr1c6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Akr1c6 APN 13 4,498,977 (GRCm39) splice site probably benign
IGL01838:Akr1c6 APN 13 4,499,035 (GRCm39) missense probably benign 0.44
IGL02318:Akr1c6 APN 13 4,488,496 (GRCm39) missense probably benign 0.05
IGL02986:Akr1c6 APN 13 4,486,414 (GRCm39) missense probably benign 0.42
IGL03168:Akr1c6 APN 13 4,486,280 (GRCm39) missense probably benign 0.04
IGL03190:Akr1c6 APN 13 4,496,412 (GRCm39) missense possibly damaging 0.49
IGL03258:Akr1c6 APN 13 4,486,408 (GRCm39) missense probably damaging 1.00
R0940:Akr1c6 UTSW 13 4,486,372 (GRCm39) missense probably benign 0.42
R1442:Akr1c6 UTSW 13 4,507,159 (GRCm39) missense probably damaging 1.00
R1624:Akr1c6 UTSW 13 4,496,363 (GRCm39) missense probably benign
R1937:Akr1c6 UTSW 13 4,496,383 (GRCm39) missense probably benign 0.01
R2392:Akr1c6 UTSW 13 4,484,477 (GRCm39) splice site probably null
R2398:Akr1c6 UTSW 13 4,499,035 (GRCm39) missense probably benign 0.44
R4655:Akr1c6 UTSW 13 4,499,428 (GRCm39) missense probably damaging 0.98
R4761:Akr1c6 UTSW 13 4,497,010 (GRCm39) missense probably benign 0.01
R4913:Akr1c6 UTSW 13 4,504,524 (GRCm39) missense probably benign 0.18
R4923:Akr1c6 UTSW 13 4,504,494 (GRCm39) missense probably damaging 1.00
R4953:Akr1c6 UTSW 13 4,488,608 (GRCm39) splice site probably null
R5255:Akr1c6 UTSW 13 4,497,018 (GRCm39) missense probably benign 0.20
R5452:Akr1c6 UTSW 13 4,504,544 (GRCm39) missense probably benign 0.00
R5660:Akr1c6 UTSW 13 4,499,053 (GRCm39) missense probably benign 0.13
R6242:Akr1c6 UTSW 13 4,486,361 (GRCm39) missense probably benign 0.01
R6323:Akr1c6 UTSW 13 4,497,017 (GRCm39) missense possibly damaging 0.91
R6599:Akr1c6 UTSW 13 4,499,318 (GRCm39) splice site probably null
R6847:Akr1c6 UTSW 13 4,488,497 (GRCm39) nonsense probably null
R6989:Akr1c6 UTSW 13 4,499,045 (GRCm39) missense probably damaging 1.00
R7251:Akr1c6 UTSW 13 4,497,019 (GRCm39) missense probably damaging 1.00
R7310:Akr1c6 UTSW 13 4,486,354 (GRCm39) missense probably benign
R8257:Akr1c6 UTSW 13 4,488,525 (GRCm39) missense probably benign 0.00
R8539:Akr1c6 UTSW 13 4,484,474 (GRCm39) critical splice donor site probably null
R8705:Akr1c6 UTSW 13 4,484,447 (GRCm39) missense probably damaging 1.00
R8791:Akr1c6 UTSW 13 4,499,373 (GRCm39) missense probably benign 0.01
R8833:Akr1c6 UTSW 13 4,496,377 (GRCm39) missense possibly damaging 0.56
X0062:Akr1c6 UTSW 13 4,488,534 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TTGTGTGGTTAGAGCTACACCAT -3'
(R):5'- CCCAGCACTATGTAGCAGAG -3'

Sequencing Primer
(F):5'- CAGCCTGTTTATCCTCTGTAGAGAG -3'
(R):5'- CTGTAGAGACTTGATCGTCCAG -3'
Posted On 2019-05-13