Incidental Mutation 'IGL02224:Akr1c12'
ID285254
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? Non essential (E-score: 0.000) question?
Stock #IGL02224
Quality Score
Status
Chromosome13
Chromosomal Location4268176-4279433 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 4279290 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 23 (T23S)
Ref Sequence ENSEMBL: ENSMUSP00000021632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021632]
Predicted Effect probably damaging
Transcript: ENSMUST00000021632
AA Change: T23S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021632
Gene: ENSMUSG00000021211
AA Change: T23S

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 G A 7: 81,076,868 probably benign Het
Atp8b3 A G 10: 80,525,976 probably benign Het
Atr C T 9: 95,878,629 R1051C probably damaging Het
B4galt2 T C 4: 117,876,913 D309G probably benign Het
C130026L21Rik A G 5: 111,582,425 noncoding transcript Het
Cadm3 A G 1: 173,338,061 I344T possibly damaging Het
Cd101 T C 3: 101,017,002 T370A probably benign Het
Col6a5 A T 9: 105,864,335 S2462T probably damaging Het
Csf3r A T 4: 126,043,539 N739Y probably benign Het
Ensa T C 3: 95,628,679 S108P probably benign Het
Fancd2 T A 6: 113,568,320 probably null Het
Fbp1 T A 13: 62,888,007 T13S probably damaging Het
Flrt2 C A 12: 95,780,028 T380K possibly damaging Het
Gpatch11 T C 17: 78,841,093 probably benign Het
Hagh A G 17: 24,852,887 D29G probably damaging Het
Hmmr T C 11: 40,710,004 Q513R unknown Het
Hoxb8 T C 11: 96,283,155 S65P probably benign Het
Il4ra T C 7: 125,570,099 probably benign Het
Lbp A G 2: 158,306,749 N27S probably damaging Het
Msh4 G A 3: 153,890,185 T76I possibly damaging Het
Nfat5 T C 8: 107,344,815 V281A probably benign Het
Olfr1115 C T 2: 87,252,477 S180F probably benign Het
Olfr1140 T A 2: 87,746,413 C72* probably null Het
Olfr1181 C T 2: 88,423,708 probably null Het
Olfr1459 T A 19: 13,145,756 K301M probably damaging Het
Olfr272 A T 4: 52,911,392 V134D probably damaging Het
Phf11b A T 14: 59,326,066 probably benign Het
Pik3c2a A G 7: 116,363,340 probably benign Het
Prdx1 T A 4: 116,691,867 F66L probably damaging Het
Prss39 A G 1: 34,499,378 H108R probably damaging Het
Spta1 C A 1: 174,217,689 probably benign Het
Tmem87b A G 2: 128,834,207 I297V possibly damaging Het
Vmn1r191 T C 13: 22,178,898 R229G probably damaging Het
Vmn2r113 A T 17: 22,955,986 R524* probably null Het
Washc2 T A 6: 116,220,569 D254E possibly damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zfp773 T C 7: 7,132,976 H207R probably benign 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
IGL02066:Akr1c12 APN 13 4276237 missense probably damaging 0.96
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
R7574:Akr1c12 UTSW 13 4279310 missense probably damaging 1.00
R8030:Akr1c12 UTSW 13 4272245 missense possibly damaging 0.93
R8242:Akr1c12 UTSW 13 4272270 nonsense probably null
R8295:Akr1c12 UTSW 13 4272356 missense probably benign 0.02
R8530:Akr1c12 UTSW 13 4270161 missense probably benign
Z1177:Akr1c12 UTSW 13 4272954 missense probably damaging 1.00
Posted On2015-04-16