Incidental Mutation 'IGL01408:Akr1c21'
ID 79882
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: 0.068) question?
Stock # IGL01408
Quality Score
Status
Chromosome 13
Chromosomal Location 4574075-4586541 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4577432 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 175 (M175K)
Ref Sequence ENSEMBL: ENSMUSP00000152465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021628] [ENSMUST00000223285]
AlphaFold Q91WR5
Predicted Effect probably benign
Transcript: ENSMUST00000021628
AA Change: M175K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021628
Gene: ENSMUSG00000021207
AA Change: M175K

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: M175K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530068E07Rik A G 11: 52,403,366 R145G probably damaging Het
Apol7a C T 15: 77,389,330 A311T probably damaging Het
Atxn10 G T 15: 85,376,695 E214* probably null Het
Bmp2k C T 5: 97,086,964 Q749* probably null Het
Ccdc141 G A 2: 77,045,679 A669V probably benign Het
Cndp2 A C 18: 84,670,911 C249G probably benign Het
Cnr1 A G 4: 33,944,802 I397V possibly damaging Het
Col19a1 T C 1: 24,306,250 probably benign Het
Dbn1 T C 13: 55,482,304 probably benign Het
Dmgdh C T 13: 93,709,295 P486S probably damaging Het
Dpys A G 15: 39,793,306 V455A possibly damaging Het
Farp2 A G 1: 93,618,980 N907S probably benign Het
Fndc3c1 C T X: 106,432,772 E894K probably benign Het
Gm6685 A T 11: 28,339,473 N114K probably damaging Het
Golga3 A T 5: 110,217,809 probably null Het
Grin2c A G 11: 115,260,882 L84P probably damaging Het
Gucy2c A G 6: 136,698,011 F1001L probably benign Het
Hcn4 A G 9: 58,859,886 H910R unknown Het
Kdm4b T C 17: 56,353,518 probably benign Het
Lrrfip2 A G 9: 111,214,216 T497A probably benign Het
Man2c1 A G 9: 57,141,600 Y924C probably damaging Het
Nkain2 T A 10: 32,402,241 T63S probably damaging Het
Nlrp1a T A 11: 71,122,916 T503S probably benign Het
Olfr658 T A 7: 104,644,929 I146F possibly damaging Het
Olfr665 T C 7: 104,880,830 V41A probably benign Het
Pitrm1 T A 13: 6,573,042 C780S probably damaging Het
Plekha5 C T 6: 140,570,316 probably benign Het
Rapgef4 C T 2: 72,174,841 R193* probably null Het
Rbm20 A G 19: 53,851,613 E1011G possibly damaging Het
Rfx3 A T 19: 27,768,650 D685E probably benign Het
Ror1 T C 4: 100,333,787 S114P probably damaging Het
Slc17a6 A G 7: 51,669,115 K502E probably benign Het
Spink2 A T 5: 77,211,327 probably benign Het
Sptb A T 12: 76,613,147 I993N possibly damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tes A T 6: 17,099,879 Y291F probably damaging Het
Tmtc4 G T 14: 122,925,954 probably benign Het
Trpa1 T C 1: 14,889,413 E683G probably benign Het
Vmn2r73 T C 7: 85,872,247 D171G probably benign Het
Wbp11 A G 6: 136,814,614 probably benign Het
Wfdc12 A G 2: 164,189,661 *86R probably null Het
Zfp281 T C 1: 136,626,115 V277A probably damaging Het
Other mutations in Akr1c21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00645:Akr1c21 APN 13 4576313 missense probably damaging 1.00
IGL01093:Akr1c21 APN 13 4581140 splice site probably benign
IGL02470:Akr1c21 APN 13 4577407 missense probably damaging 1.00
IGL02683:Akr1c21 APN 13 4576313 missense probably damaging 1.00
IGL02738:Akr1c21 APN 13 4580301 missense probably damaging 1.00
IGL03126:Akr1c21 APN 13 4577458 missense possibly damaging 0.76
IGL03365:Akr1c21 APN 13 4583852 missense probably benign 0.00
R0166:Akr1c21 UTSW 13 4581264 missense probably damaging 1.00
R0391:Akr1c21 UTSW 13 4581200 missense probably damaging 1.00
R0505:Akr1c21 UTSW 13 4576307 missense probably damaging 1.00
R1069:Akr1c21 UTSW 13 4575334 splice site probably benign
R1168:Akr1c21 UTSW 13 4583837 missense probably benign 0.04
R1617:Akr1c21 UTSW 13 4576352 splice site probably null
R1686:Akr1c21 UTSW 13 4577453 missense probably damaging 1.00
R1694:Akr1c21 UTSW 13 4575178 missense probably damaging 0.98
R1753:Akr1c21 UTSW 13 4577135 nonsense probably null
R1977:Akr1c21 UTSW 13 4574212 missense probably damaging 1.00
R2005:Akr1c21 UTSW 13 4574215 missense probably damaging 1.00
R2036:Akr1c21 UTSW 13 4576306 missense probably damaging 0.98
R2198:Akr1c21 UTSW 13 4577465 missense probably damaging 1.00
R2925:Akr1c21 UTSW 13 4576350 splice site probably null
R4965:Akr1c21 UTSW 13 4580305 missense probably damaging 1.00
R6245:Akr1c21 UTSW 13 4575232 missense possibly damaging 0.93
R6381:Akr1c21 UTSW 13 4574184 missense probably damaging 1.00
R6711:Akr1c21 UTSW 13 4577375 missense probably damaging 1.00
R6843:Akr1c21 UTSW 13 4575214 missense probably damaging 1.00
R6998:Akr1c21 UTSW 13 4583851 missense probably benign 0.05
R7253:Akr1c21 UTSW 13 4577140 missense probably damaging 1.00
R7475:Akr1c21 UTSW 13 4576319 missense probably benign 0.09
R8389:Akr1c21 UTSW 13 4576279 missense probably damaging 0.96
R8391:Akr1c21 UTSW 13 4576279 missense probably damaging 0.96
Posted On 2013-11-05