Incidental Mutation 'R4965:Akr1c21'
ID 383949
Institutional Source Beutler Lab
Gene Symbol Akr1c21
Ensembl Gene ENSMUSG00000021207
Gene Name aldo-keto reductase family 1, member C21
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R4965 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 4574075-4586541 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4580305 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 199 (Q199L)
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: Q199L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021628
Gene: ENSMUSG00000021207
AA Change: Q199L

Pfam:Aldo_ket_red 18 301 2.2e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137279
Predicted Effect probably benign
Transcript: ENSMUST00000223285
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 117 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 138,069,672 (GRCm38) T1541A probably benign Het
2810474O19Rik G T 6: 149,328,398 (GRCm38) G981* probably null Het
4931423N10Rik C A 2: 23,245,115 (GRCm38) T312K probably benign Het
9530002B09Rik T C 4: 122,700,492 (GRCm38) M59T probably benign Het
Adam18 C T 8: 24,641,811 (GRCm38) C428Y probably damaging Het
Adcy5 A G 16: 35,278,502 (GRCm38) E700G possibly damaging Het
Adprh G T 16: 38,445,780 (GRCm38) Y333* probably null Het
Agfg2 C A 5: 137,667,177 (GRCm38) probably null Het
Akip1 A T 7: 109,711,754 (GRCm38) E167V probably damaging Het
Aldh9a1 C A 1: 167,365,789 (GRCm38) A455E probably damaging Het
Amph G A 13: 19,137,699 (GRCm38) S520N probably benign Het
Ankrd52 A G 10: 128,390,507 (GRCm38) D1006G probably benign Het
Ap5z1 A C 5: 142,467,676 (GRCm38) Q133P probably damaging Het
Babam1 C T 8: 71,404,388 (GRCm38) A331V possibly damaging Het
Btc T C 5: 91,362,301 (GRCm38) probably null Het
Cacna2d3 A G 14: 28,982,332 (GRCm38) F831L probably benign Het
Cadm3 G A 1: 173,337,097 (GRCm38) P372L probably damaging Het
Capn5 A T 7: 98,126,417 (GRCm38) M439K probably damaging Het
Carf T C 1: 60,150,637 (GRCm38) S639P probably damaging Het
Casp12 C T 9: 5,352,250 (GRCm38) R81C probably benign Het
Ces2e G T 8: 104,933,698 (GRCm38) R555M probably benign Het
Cfap54 T A 10: 93,066,799 (GRCm38) I164F probably benign Het
Cltc C T 11: 86,707,501 (GRCm38) V1012I probably damaging Het
Cmya5 G A 13: 93,095,787 (GRCm38) T931I possibly damaging Het
Cntn6 A G 6: 104,774,474 (GRCm38) I364V probably damaging Het
Cntnap1 A T 11: 101,177,425 (GRCm38) I59F possibly damaging Het
Cop1 T C 1: 159,239,597 (GRCm38) M80T probably damaging Het
Cplx2 A G 13: 54,379,647 (GRCm38) S115G possibly damaging Het
Crtac1 A G 19: 42,318,740 (GRCm38) Y195H probably damaging Het
Csn1s2a A C 5: 87,781,838 (GRCm38) S99R possibly damaging Het
Csn1s2b T A 5: 87,813,961 (GRCm38) D41E possibly damaging Het
Cul9 C T 17: 46,538,525 (GRCm38) D565N probably damaging Het
Cux1 A T 5: 136,311,556 (GRCm38) N625K possibly damaging Het
Cyp2c37 A T 19: 40,011,762 (GRCm38) M443L possibly damaging Het
Cyp2s1 G A 7: 25,809,285 (GRCm38) T244I possibly damaging Het
Dgkh C T 14: 78,624,421 (GRCm38) V135M probably damaging Het
Dtl T C 1: 191,546,565 (GRCm38) E395G possibly damaging Het
Dyrk1a G T 16: 94,691,995 (GRCm38) G658* probably null Het
Erlin2 T C 8: 27,029,595 (GRCm38) F117S probably damaging Het
Fkbp8 A G 8: 70,531,523 (GRCm38) probably null Het
Fras1 T C 5: 96,726,580 (GRCm38) F2288S possibly damaging Het
Frmd3 A G 4: 74,153,600 (GRCm38) T240A probably damaging Het
H2-D1 A G 17: 35,263,905 (GRCm38) Y137C probably damaging Het
Helz2 A G 2: 181,240,916 (GRCm38) V28A possibly damaging Het
Hydin A G 8: 110,398,095 (GRCm38) I579V probably benign Het
Il6 A T 5: 30,013,493 (GRCm38) Y29F possibly damaging Het
Ildr2 A G 1: 166,307,840 (GRCm38) D368G probably damaging Het
Junb T A 8: 84,978,159 (GRCm38) I91F probably damaging Het
Kat2a A T 11: 100,712,204 (GRCm38) probably benign Het
Kat2a C A 11: 100,712,203 (GRCm38) probably benign Het
Kcnh5 T A 12: 74,965,151 (GRCm38) T665S probably benign Het
Kdm1b A T 13: 47,074,367 (GRCm38) D608V probably damaging Het
Krcc1 A G 6: 71,284,637 (GRCm38) K218E probably damaging Het
Krt8 C T 15: 101,996,951 (GRCm38) V488M probably benign Het
Lzts1 C T 8: 69,138,762 (GRCm38) A245T probably benign Het
Mcm6 T A 1: 128,359,486 (GRCm38) Q27L probably damaging Het
Mfsd4b3 G T 10: 39,947,690 (GRCm38) Y191* probably null Het
Mgme1 T C 2: 144,279,620 (GRCm38) L332P probably benign Het
Mgme1 C T 2: 144,276,404 (GRCm38) Q199* probably null Het
Morc3 G T 16: 93,860,587 (GRCm38) E25* probably null Het
Mroh7 G A 4: 106,690,987 (GRCm38) A1098V possibly damaging Het
Mtrf1 G A 14: 79,406,587 (GRCm38) R174H probably benign Het
Mybpc3 G A 2: 91,119,247 (GRCm38) G45D possibly damaging Het
Mycbpap A T 11: 94,504,938 (GRCm38) N733K probably damaging Het
N4bp1 T C 8: 86,851,686 (GRCm38) I684V possibly damaging Het
Nav2 A T 7: 49,552,877 (GRCm38) R1470* probably null Het
Ndufa9 A T 6: 126,822,063 (GRCm38) S364T probably benign Het
Nipal4 C A 11: 46,162,010 (GRCm38) A43S possibly damaging Het
Nlrp1a T A 11: 71,092,315 (GRCm38) Y1275F possibly damaging Het
Nova1 A T 12: 46,720,835 (GRCm38) L8* probably null Het
Odam G T 5: 87,890,108 (GRCm38) G181* probably null Het
Olfr1111 T A 2: 87,150,659 (GRCm38) M1L possibly damaging Het
Olfr1297 T C 2: 111,621,534 (GRCm38) D180G probably damaging Het
Olfr15 T C 16: 3,839,570 (GRCm38) L199P probably damaging Het
Olfr186 A T 16: 59,027,333 (GRCm38) D191E probably damaging Het
Olfr283 T C 15: 98,379,149 (GRCm38) probably benign Het
Olfr33 A T 7: 102,713,495 (GRCm38) I306N probably damaging Het
Olfr723 C T 14: 49,928,897 (GRCm38) V216I probably benign Het
Optn T A 2: 5,021,379 (GRCm38) Q576L probably benign Het
Patl2 G T 2: 122,128,848 (GRCm38) S45* probably null Het
Pde2a G A 7: 101,502,933 (GRCm38) G349E probably benign Het
Pdlim2 T A 14: 70,168,015 (GRCm38) probably benign Het
Per1 T C 11: 69,104,401 (GRCm38) V653A probably benign Het
Phlda2 A G 7: 143,502,268 (GRCm38) S75P probably damaging Het
Poldip3 A T 15: 83,137,505 (GRCm38) M167K possibly damaging Het
Prpf38a T C 4: 108,579,081 (GRCm38) I12V probably benign Het
Prrc1 G A 18: 57,374,550 (GRCm38) V259I possibly damaging Het
Ptges3l A T 11: 101,424,622 (GRCm38) M1K probably null Het
Rdh5 A G 10: 128,913,784 (GRCm38) Y296H probably damaging Het
Rnf2 T A 1: 151,473,217 (GRCm38) K51* probably null Het
Rpusd3 C A 6: 113,416,848 (GRCm38) R215L probably benign Het
Rsph4a A T 10: 33,909,240 (GRCm38) E382D probably damaging Het
S1pr2 G A 9: 20,968,449 (GRCm38) Q28* probably null Het
Sesn1 A T 10: 41,895,009 (GRCm38) I179F probably damaging Het
Setd3 T A 12: 108,113,371 (GRCm38) E291V probably benign Het
Shc1 G T 3: 89,426,996 (GRCm38) R323L probably damaging Het
Slc22a5 T C 11: 53,891,526 (GRCm38) D5G possibly damaging Het
Slc6a19 T C 13: 73,700,558 (GRCm38) K26E probably benign Het
Slc9a3 A G 13: 74,164,293 (GRCm38) N670D possibly damaging Het
Spata19 A T 9: 27,400,465 (GRCm38) I127L probably benign Het
Speg G T 1: 75,427,703 (GRCm38) V2751L probably damaging Het
Sptbn2 A G 19: 4,729,309 (GRCm38) D298G probably benign Het
Srm T C 4: 148,594,183 (GRCm38) V289A possibly damaging Het
Stip1 C T 19: 7,035,570 (GRCm38) A49T probably benign Het
Tas2r118 C A 6: 23,969,628 (GRCm38) V145F probably benign Het
Tbc1d12 A T 19: 38,865,725 (GRCm38) K284* probably null Het
Tfcp2 T C 15: 100,525,650 (GRCm38) H125R probably damaging Het
Tfdp1 T C 8: 13,373,073 (GRCm38) V206A probably damaging Het
Tgtp2 A G 11: 49,059,410 (GRCm38) W112R probably damaging Het
Tmem71 T G 15: 66,538,861 (GRCm38) M221L probably benign Het
Tpcn1 T C 5: 120,547,487 (GRCm38) N436S possibly damaging Het
Usp4 C T 9: 108,362,620 (GRCm38) L183F probably damaging Het
Vmn2r55 A T 7: 12,670,551 (GRCm38) N308K possibly damaging Het
Zfp106 T A 2: 120,533,919 (GRCm38) D669V probably damaging Het
Zfp108 A T 7: 24,260,148 (GRCm38) I55L probably benign Het
Zfp512b A T 2: 181,586,338 (GRCm38) S8R probably damaging Het
Zfp827 T C 8: 79,061,281 (GRCm38) S359P probably benign Het
Other mutations in Akr1c21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00645:Akr1c21 APN 13 4,576,313 (GRCm38) missense probably damaging 1.00
IGL01093:Akr1c21 APN 13 4,581,140 (GRCm38) splice site probably benign
IGL01408:Akr1c21 APN 13 4,577,432 (GRCm38) missense probably benign
IGL02470:Akr1c21 APN 13 4,577,407 (GRCm38) missense probably damaging 1.00
IGL02683:Akr1c21 APN 13 4,576,313 (GRCm38) missense probably damaging 1.00
IGL02738:Akr1c21 APN 13 4,580,301 (GRCm38) missense probably damaging 1.00
IGL03126:Akr1c21 APN 13 4,577,458 (GRCm38) missense possibly damaging 0.76
IGL03365:Akr1c21 APN 13 4,583,852 (GRCm38) missense probably benign 0.00
R0166:Akr1c21 UTSW 13 4,581,264 (GRCm38) missense probably damaging 1.00
R0391:Akr1c21 UTSW 13 4,581,200 (GRCm38) missense probably damaging 1.00
R0505:Akr1c21 UTSW 13 4,576,307 (GRCm38) missense probably damaging 1.00
R1069:Akr1c21 UTSW 13 4,575,334 (GRCm38) splice site probably benign
R1168:Akr1c21 UTSW 13 4,583,837 (GRCm38) missense probably benign 0.04
R1617:Akr1c21 UTSW 13 4,576,352 (GRCm38) splice site probably null
R1686:Akr1c21 UTSW 13 4,577,453 (GRCm38) missense probably damaging 1.00
R1694:Akr1c21 UTSW 13 4,575,178 (GRCm38) missense probably damaging 0.98
R1753:Akr1c21 UTSW 13 4,577,135 (GRCm38) nonsense probably null
R1977:Akr1c21 UTSW 13 4,574,212 (GRCm38) missense probably damaging 1.00
R2005:Akr1c21 UTSW 13 4,574,215 (GRCm38) missense probably damaging 1.00
R2036:Akr1c21 UTSW 13 4,576,306 (GRCm38) missense probably damaging 0.98
R2198:Akr1c21 UTSW 13 4,577,465 (GRCm38) missense probably damaging 1.00
R2925:Akr1c21 UTSW 13 4,576,350 (GRCm38) splice site probably null
R6245:Akr1c21 UTSW 13 4,575,232 (GRCm38) missense possibly damaging 0.93
R6381:Akr1c21 UTSW 13 4,574,184 (GRCm38) missense probably damaging 1.00
R6711:Akr1c21 UTSW 13 4,577,375 (GRCm38) missense probably damaging 1.00
R6843:Akr1c21 UTSW 13 4,575,214 (GRCm38) missense probably damaging 1.00
R6998:Akr1c21 UTSW 13 4,583,851 (GRCm38) missense probably benign 0.05
R7253:Akr1c21 UTSW 13 4,577,140 (GRCm38) missense probably damaging 1.00
R7475:Akr1c21 UTSW 13 4,576,319 (GRCm38) missense probably benign 0.09
R8389:Akr1c21 UTSW 13 4,576,279 (GRCm38) missense probably damaging 0.96
R8391:Akr1c21 UTSW 13 4,576,279 (GRCm38) missense probably damaging 0.96
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-04-27