Incidental Mutation 'IGL02470:Akr1c21'
ID 294691
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr1c21
Ensembl Gene ENSMUSG00000021207
Gene Name aldo-keto reductase family 1, member C21
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL02470
Quality Score
Status
Chromosome 13
Chromosomal Location 4574075-4586541 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4577407 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 167 (N167Y)
Ref Sequence ENSEMBL: ENSMUSP00000152465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021628] [ENSMUST00000223285]
AlphaFold Q91WR5
Predicted Effect probably damaging
Transcript: ENSMUST00000021628
AA Change: N167Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021628
Gene: ENSMUSG00000021207
AA Change: N167Y

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 2.2e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137279
Predicted Effect probably damaging
Transcript: ENSMUST00000223285
AA Change: N167Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A T 11: 23,615,222 (GRCm38) M255K probably damaging Het
Adcy10 A G 1: 165,567,726 (GRCm38) Y1422C probably damaging Het
Adnp T A 2: 168,183,194 (GRCm38) K727I probably damaging Het
Arl4a T C 12: 40,036,748 (GRCm38) probably benign Het
BB014433 A T 8: 15,042,803 (GRCm38) F17I unknown Het
Best1 T C 19: 9,992,976 (GRCm38) S91G probably benign Het
Ccdc148 A T 2: 59,001,899 (GRCm38) S235T probably damaging Het
Cdc45 C T 16: 18,798,729 (GRCm38) M200I probably benign Het
Csgalnact1 C A 8: 68,401,492 (GRCm38) G219V probably damaging Het
Dcc A T 18: 71,955,082 (GRCm38) probably benign Het
Dnajc13 G A 9: 104,175,747 (GRCm38) T1672I probably benign Het
Elf3 A T 1: 135,255,012 (GRCm38) F325Y probably damaging Het
Enpp2 A G 15: 54,839,460 (GRCm38) L880P probably damaging Het
Fndc3b A G 3: 27,461,720 (GRCm38) Y646H probably damaging Het
Fzd6 A T 15: 39,036,557 (GRCm38) probably benign Het
Gnb1 T A 4: 155,527,513 (GRCm38) probably benign Het
Mast1 C A 8: 84,921,212 (GRCm38) G511V probably damaging Het
Mcmbp T C 7: 128,704,621 (GRCm38) I424M possibly damaging Het
Mobp A G 9: 120,168,006 (GRCm38) T68A probably benign Het
Myh11 T C 16: 14,218,046 (GRCm38) E1006G probably damaging Het
Ncstn A G 1: 172,082,599 (GRCm38) probably null Het
Olfr1089 A T 2: 86,733,585 (GRCm38) V9E probably damaging Het
Olfr340 A G 2: 36,452,597 (GRCm38) D4G probably benign Het
Phip A T 9: 82,890,454 (GRCm38) V1075D possibly damaging Het
Serpinb1a C T 13: 32,850,393 (GRCm38) S5N probably damaging Het
Slc15a3 A G 19: 10,853,170 (GRCm38) N295S probably benign Het
Trmt13 A C 3: 116,590,228 (GRCm38) probably null Het
Trp63 A C 16: 25,820,384 (GRCm38) probably benign Het
Zfp518a G A 19: 40,914,617 (GRCm38) G997R probably damaging 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
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
R4965:Akr1c21 UTSW 13 4,580,305 (GRCm38) missense probably damaging 1.00
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
Posted On 2015-04-16