Incidental Mutation 'IGL03126:Akr1c21'
ID 410163
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr1c21
Ensembl Gene ENSMUSG00000021207
Gene Name aldo-keto reductase family 1, member C21
Synonyms 9430025F20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL03126
Quality Score
Status
Chromosome 13
Chromosomal Location 4624074-4636540 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4627457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 184 (Y184H)
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 possibly damaging
Transcript: ENSMUST00000021628
AA Change: Y184H

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021628
Gene: ENSMUSG00000021207
AA Change: Y184H

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 2.2e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137279
Predicted Effect probably benign
Transcript: ENSMUST00000223285
AA Change: Y184H

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,617,563 (GRCm39) N562S probably benign Het
Abi1 A G 2: 22,843,479 (GRCm39) V316A probably benign Het
Acsm1 A T 7: 119,232,403 (GRCm39) Q100L possibly damaging Het
Anks3 T C 16: 4,775,891 (GRCm39) T104A probably damaging Het
Bcl2l2 A G 14: 55,122,224 (GRCm39) Y129C probably damaging Het
Cenpf T A 1: 189,391,207 (GRCm39) K875I probably damaging Het
Cntnap1 T C 11: 101,067,127 (GRCm39) V15A probably benign Het
Dnaaf9 A T 2: 130,633,915 (GRCm39) probably null Het
Elmo3 C A 8: 106,033,013 (GRCm39) R66S probably damaging Het
Elp1 A G 4: 56,779,717 (GRCm39) S565P probably benign Het
Epn1 C A 7: 5,098,684 (GRCm39) A370E probably benign Het
Esrrg T C 1: 187,730,184 (GRCm39) probably benign Het
Fgd5 T G 6: 92,042,145 (GRCm39) L1034R probably damaging Het
Fpgs A G 2: 32,573,135 (GRCm39) V567A possibly damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
H3c3 T C 13: 23,929,425 (GRCm39) K19R possibly damaging Het
Hsd17b14 T C 7: 45,205,503 (GRCm39) F38S possibly damaging Het
Larp1 T C 11: 57,941,703 (GRCm39) V712A possibly damaging Het
Mep1b T C 18: 21,221,617 (GRCm39) F189S probably damaging Het
Mill1 T C 7: 17,989,832 (GRCm39) V38A probably benign Het
Niban2 C T 2: 32,766,398 (GRCm39) R13W possibly damaging Het
Npy4r T C 14: 33,868,290 (GRCm39) I333V probably benign Het
Numa1 G T 7: 101,649,874 (GRCm39) E1202* probably null Het
Or3a1b C T 11: 74,012,610 (GRCm39) A165V probably benign Het
Or6k6 A G 1: 173,945,276 (GRCm39) I102T probably benign Het
Oxr1 A T 15: 41,683,645 (GRCm39) Q356L possibly damaging Het
Prdx2 T C 8: 85,698,198 (GRCm39) F130L probably damaging Het
Rasa1 A T 13: 85,404,515 (GRCm39) S248R possibly damaging Het
Rgs19 A G 2: 181,333,114 (GRCm39) S49P probably benign Het
Rinl A G 7: 28,495,075 (GRCm39) probably benign Het
Serpinb11 T C 1: 107,307,654 (GRCm39) F362L probably damaging Het
Slamf8 T C 1: 172,411,736 (GRCm39) H253R possibly damaging Het
Tet3 C A 6: 83,353,769 (GRCm39) R829L probably damaging Het
Trappc8 A G 18: 20,996,652 (GRCm39) L420P probably damaging Het
Ube2u A T 4: 100,407,199 (GRCm39) *353Y probably null Het
Wbp1l A C 19: 46,632,838 (GRCm39) D46A probably damaging Het
Zbtb21 A G 16: 97,752,945 (GRCm39) V474A probably damaging 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
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
R8389:Akr1c21 UTSW 13 4,626,278 (GRCm39) missense probably damaging 0.96
R8391:Akr1c21 UTSW 13 4,626,278 (GRCm39) missense probably damaging 0.96
Posted On 2016-08-02