Incidental Mutation 'R8389:Akr1c21'
ID 647294
Institutional Source Beutler Lab
Gene Symbol Akr1c21
Ensembl Gene ENSMUSG00000021207
Gene Name aldo-keto reductase family 1, member C21
Synonyms 9430025F20Rik
MMRRC Submission 067754-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R8389 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 4624074-4636540 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4626278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 101 (R101W)
Ref Sequence ENSEMBL: ENSMUSP00000021628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021628] [ENSMUST00000223285]
AlphaFold Q91WR5
PDB Structure Crystal structure of 17alpha-hydroxysteroid dehydrogenase in binary complex with NADP(H) in an open conformation [X-RAY DIFFRACTION]
Crystal structure of 17alpha-hydroxysteroid dehydrogenase in its apo-form [X-RAY DIFFRACTION]
Crystal structure of 17alpha-hydroxysteroid dehydrogenase in complex with NADP(H) in a closed conformation [X-RAY DIFFRACTION]
Crystal structure of 17alpha-hydroxysteroid dehydrogenase in complex with NADP+ and epi-testosterone [X-RAY DIFFRACTION]
Crystal structure of 17alpha-hydroxysteroid dehydrogenase mutant K31A in complex with NADP+ and epi-testosterone [X-RAY DIFFRACTION]
Crystal structure of mouse 17-alpha hydroxysteroid dehydrogenase in complex with coenzyme NADPH [X-RAY DIFFRACTION]
The crystal structure of mouse 17-alpha hydroxysteroid dehydrogenase GG225.226PP mutant in complex with inhibitor and cofactor NADP+. [X-RAY DIFFRACTION]
The crystal structure of 17-alpha hydroxysteroid dehydrogenase Y224D mutant. [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000021628
AA Change: R101W

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021628
Gene: ENSMUSG00000021207
AA Change: R101W

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 2.2e-55 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000223285
AA Change: R101W

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl C T 1: 66,893,906 (GRCm39) G83E probably damaging Het
Adamtsl2 A G 2: 26,993,136 (GRCm39) D722G possibly damaging Het
Akap11 A T 14: 78,756,322 (GRCm39) D25E Het
Ano2 T C 6: 125,957,132 (GRCm39) Y634H probably damaging Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Cfap221 T C 1: 119,851,301 (GRCm39) E820G probably damaging Het
Chad A G 11: 94,458,718 (GRCm39) D289G probably benign Het
Col4a2 C A 8: 11,498,132 (GRCm39) A1647E probably damaging Het
Dhx32 G T 7: 133,326,935 (GRCm39) T522K possibly damaging Het
Eloa A G 4: 135,733,622 (GRCm39) V707A probably benign Het
Fam219a A G 4: 41,520,935 (GRCm39) S109P probably damaging Het
Ftl1 A T 7: 45,108,651 (GRCm39) F36I probably benign Het
Furin C T 7: 80,040,627 (GRCm39) R737Q probably benign Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gpt C T 15: 76,583,242 (GRCm39) T393M probably damaging Het
Greb1l A T 18: 10,529,613 (GRCm39) D865V probably benign Het
Ifi207 GTT GT 1: 173,557,016 (GRCm39) probably null Het
Klk1b11 G A 7: 43,649,120 (GRCm39) C219Y probably damaging Het
Lcn11 A T 2: 25,669,043 (GRCm39) D117V probably damaging Het
Lrpprc A T 17: 85,080,742 (GRCm39) V161D possibly damaging Het
Lrrk2 T C 15: 91,584,194 (GRCm39) L318S probably damaging Het
Muc5b A G 7: 141,415,516 (GRCm39) T2821A possibly damaging Het
Mysm1 A G 4: 94,853,849 (GRCm39) M250T probably benign Het
Nol12 A G 15: 78,819,268 (GRCm39) K27E probably damaging Het
Omg T A 11: 79,393,001 (GRCm39) M286L probably benign Het
Or4c100 G A 2: 88,355,931 (GRCm39) M1I probably null Het
Or8g32 A G 9: 39,305,912 (GRCm39) K272R probably damaging Het
Pdyn A G 2: 129,530,357 (GRCm39) L104P probably benign Het
Pira2 A C 7: 3,846,888 (GRCm39) L218R probably damaging Het
Pnpt1 A T 11: 29,080,758 (GRCm39) M1L unknown Het
Pofut2 C T 10: 77,101,785 (GRCm39) T274M probably benign Het
Pramel34 A T 5: 93,785,587 (GRCm39) F231Y probably benign Het
Rbm12b1 C A 4: 12,146,363 (GRCm39) D778E probably damaging Het
Srsf12 C G 4: 33,226,070 (GRCm39) P111R probably damaging Het
Tbc1d14 G A 5: 36,687,792 (GRCm39) probably benign Het
Tcf23 A G 5: 31,127,464 (GRCm39) K89E probably benign Het
Tmem74 C T 15: 43,730,315 (GRCm39) G243R probably damaging Het
Ufd1 T C 16: 18,639,853 (GRCm39) V119A possibly damaging Het
Vmn2r72 A T 7: 85,401,168 (GRCm39) Y84N probably damaging Het
Zfp120 A T 2: 149,959,327 (GRCm39) C354S probably damaging Het
Zfp69 G A 4: 120,806,549 (GRCm39) T28I possibly damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp959 T C 17: 56,204,299 (GRCm39) V112A probably benign Het
Zfr2 T A 10: 81,081,323 (GRCm39) W458R probably benign Het
Other mutations in Akr1c21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00645:Akr1c21 APN 13 4,626,312 (GRCm39) missense probably damaging 1.00
IGL01093:Akr1c21 APN 13 4,631,139 (GRCm39) splice site probably benign
IGL01408:Akr1c21 APN 13 4,627,431 (GRCm39) missense probably benign
IGL02470:Akr1c21 APN 13 4,627,406 (GRCm39) missense probably damaging 1.00
IGL02683:Akr1c21 APN 13 4,626,312 (GRCm39) missense probably damaging 1.00
IGL02738:Akr1c21 APN 13 4,630,300 (GRCm39) missense probably damaging 1.00
IGL03126:Akr1c21 APN 13 4,627,457 (GRCm39) missense possibly damaging 0.76
IGL03365:Akr1c21 APN 13 4,633,851 (GRCm39) missense probably benign 0.00
R0166:Akr1c21 UTSW 13 4,631,263 (GRCm39) missense probably damaging 1.00
R0391:Akr1c21 UTSW 13 4,631,199 (GRCm39) missense probably damaging 1.00
R0505:Akr1c21 UTSW 13 4,626,306 (GRCm39) missense probably damaging 1.00
R1069:Akr1c21 UTSW 13 4,625,333 (GRCm39) splice site probably benign
R1168:Akr1c21 UTSW 13 4,633,836 (GRCm39) missense probably benign 0.04
R1617:Akr1c21 UTSW 13 4,626,351 (GRCm39) splice site probably null
R1686:Akr1c21 UTSW 13 4,627,452 (GRCm39) missense probably damaging 1.00
R1694:Akr1c21 UTSW 13 4,625,177 (GRCm39) missense probably damaging 0.98
R1753:Akr1c21 UTSW 13 4,627,134 (GRCm39) nonsense probably null
R1977:Akr1c21 UTSW 13 4,624,211 (GRCm39) missense probably damaging 1.00
R2005:Akr1c21 UTSW 13 4,624,214 (GRCm39) missense probably damaging 1.00
R2036:Akr1c21 UTSW 13 4,626,305 (GRCm39) missense probably damaging 0.98
R2198:Akr1c21 UTSW 13 4,627,464 (GRCm39) missense probably damaging 1.00
R2925:Akr1c21 UTSW 13 4,626,349 (GRCm39) splice site probably null
R4965:Akr1c21 UTSW 13 4,630,304 (GRCm39) missense probably damaging 1.00
R6245:Akr1c21 UTSW 13 4,625,231 (GRCm39) missense possibly damaging 0.93
R6381:Akr1c21 UTSW 13 4,624,183 (GRCm39) missense probably damaging 1.00
R6711:Akr1c21 UTSW 13 4,627,374 (GRCm39) missense probably damaging 1.00
R6843:Akr1c21 UTSW 13 4,625,213 (GRCm39) missense probably damaging 1.00
R6998:Akr1c21 UTSW 13 4,633,850 (GRCm39) missense probably benign 0.05
R7253:Akr1c21 UTSW 13 4,627,139 (GRCm39) missense probably damaging 1.00
R7475:Akr1c21 UTSW 13 4,626,318 (GRCm39) missense probably benign 0.09
R8391:Akr1c21 UTSW 13 4,626,278 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGAATATTCCCCTGTGCACATC -3'
(R):5'- CCTTCAGTGGTAGGATTCTATTTTC -3'

Sequencing Primer
(F):5'- CCTGTGCACATCAATTTCAAATCAG -3'
(R):5'- TGTTAAGATCTGAGCCTCAGCAG -3'
Posted On 2020-09-02