Incidental Mutation 'IGL02066:Akr1c12'
ID185646
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr1c12
Ensembl Gene ENSMUSG00000021211
Gene Namealdo-keto reductase family 1, member C12
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL02066
Quality Score
Status
Chromosome13
Chromosomal Location4268176-4279433 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4276237 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 82 (T82A)
Ref Sequence ENSEMBL: ENSMUSP00000021632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021632]
Predicted Effect probably damaging
Transcript: ENSMUST00000021632
AA Change: T82A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021632
Gene: ENSMUSG00000021211
AA Change: T82A

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 1.1e-63 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik G A 11: 78,273,232 R1133H probably damaging Het
A2m T A 6: 121,649,895 C569S probably damaging Het
Adck5 T C 15: 76,595,206 V487A probably damaging Het
Agfg1 A G 1: 82,893,558 T483A probably damaging Het
Ano2 T A 6: 125,690,739 L6Q probably benign Het
Anp32a G A 9: 62,377,333 probably benign Het
Cep250 C A 2: 155,976,521 A871D probably damaging Het
Chl1 T C 6: 103,698,224 V624A probably benign Het
Clasp1 G A 1: 118,565,260 probably null Het
Clca3a2 T G 3: 144,813,455 D320A probably benign Het
Cnot9 A G 1: 74,527,053 Q201R possibly damaging Het
Cox4i2 C T 2: 152,760,682 R99C probably damaging Het
Csmd1 A T 8: 15,926,594 F2875I probably damaging Het
Dpagt1 A G 9: 44,331,906 Y246C probably damaging Het
Dsc1 A G 18: 20,108,803 probably benign Het
Eef1d G A 15: 75,896,855 T464I probably benign Het
Efna2 C T 10: 80,188,666 probably benign Het
Etaa1 C A 11: 17,946,687 V477L probably benign Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fam83d C T 2: 158,785,873 T494M probably benign Het
Fbxo24 C T 5: 137,612,870 V553M probably damaging Het
Gal3st2 A G 1: 93,873,657 T12A probably damaging Het
Gba2 G A 4: 43,570,175 T373I probably benign Het
Kitl T A 10: 100,076,882 C154S probably damaging Het
Lrp1b A T 2: 41,111,079 C2044* probably null Het
Lrp6 G T 6: 134,450,937 S1564* probably null Het
Manea A T 4: 26,340,965 probably benign Het
Myt1 T C 2: 181,797,189 L168P probably damaging Het
Notch1 T C 2: 26,460,396 E2244G possibly damaging Het
Nsd3 T G 8: 25,713,488 V1343G probably damaging Het
Nup155 T C 15: 8,157,766 probably benign Het
Obox6 T C 7: 15,834,703 I83V probably benign Het
Olfr358 A T 2: 37,005,309 F102I probably damaging Het
Olfr538 A T 7: 140,574,500 T116S possibly damaging Het
Pdgfra T C 5: 75,170,580 V282A possibly damaging Het
Pkd1l2 A G 8: 117,009,564 probably benign Het
Pmfbp1 A T 8: 109,541,733 I971F possibly damaging Het
Ppp6c T C 2: 39,199,671 T199A probably benign Het
Ptpa A G 2: 30,443,296 T3A possibly damaging Het
Rb1 A T 14: 73,198,534 M897K probably benign Het
Rptn A C 3: 93,397,129 S590R probably benign Het
Rreb1 A G 13: 37,931,506 D947G probably benign Het
Samd9l T C 6: 3,376,575 T229A probably damaging Het
Slc5a9 A T 4: 111,887,522 M423K probably damaging Het
Slc6a12 T A 6: 121,352,056 I111N probably damaging Het
Slc6a15 T A 10: 103,416,658 L561I probably damaging Het
Spag5 A G 11: 78,304,532 N222D probably benign Het
Spp2 G A 1: 88,417,243 M54I probably benign Het
Sptbn4 T C 7: 27,364,515 E847G possibly damaging Het
Timd2 T A 11: 46,678,223 N203Y probably damaging Het
Togaram1 G T 12: 64,983,421 D1000Y probably damaging Het
Usp47 C T 7: 112,064,397 R258C probably damaging Het
Uts2r A C 11: 121,160,697 D129A probably damaging Het
Vmn2r102 G A 17: 19,693,929 M585I probably benign Het
Vmn2r77 A T 7: 86,803,628 R518* probably null Het
Wdfy4 C T 14: 33,149,566 R296K probably benign Het
Xirp2 A T 2: 67,526,071 K3725N probably benign Het
Xntrpc T C 7: 102,077,829 S142P probably benign Het
Zfat T C 15: 68,180,829 H372R probably damaging Het
Other mutations in Akr1c12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01479:Akr1c12 APN 13 4272935 missense probably benign 0.01
IGL01603:Akr1c12 APN 13 4272927 critical splice donor site probably null
IGL01935:Akr1c12 APN 13 4272245 missense probably damaging 0.99
IGL02224:Akr1c12 APN 13 4279290 missense probably damaging 0.98
IGL02277:Akr1c12 APN 13 4272269 missense probably damaging 1.00
IGL02425:Akr1c12 APN 13 4273750 missense probably damaging 1.00
IGL02884:Akr1c12 APN 13 4272212 missense possibly damaging 0.52
IGL02959:Akr1c12 APN 13 4279332 missense probably benign
IGL03075:Akr1c12 APN 13 4272255 missense probably damaging 1.00
R1216:Akr1c12 UTSW 13 4276323 missense probably benign 0.10
R1302:Akr1c12 UTSW 13 4272329 missense probably damaging 1.00
R1520:Akr1c12 UTSW 13 4276299 missense probably damaging 1.00
R2213:Akr1c12 UTSW 13 4276248 missense probably damaging 0.99
R3944:Akr1c12 UTSW 13 4279340 missense probably benign
R4671:Akr1c12 UTSW 13 4273817 missense possibly damaging 0.88
R6237:Akr1c12 UTSW 13 4275768 missense possibly damaging 0.51
R6266:Akr1c12 UTSW 13 4270207 missense probably benign
R6467:Akr1c12 UTSW 13 4275773 missense probably benign 0.10
R6826:Akr1c12 UTSW 13 4275734 missense probably benign 0.06
R6865:Akr1c12 UTSW 13 4270213 missense possibly damaging 0.79
R6874:Akr1c12 UTSW 13 4272960 missense probably benign 0.22
Posted On2014-05-07