Incidental Mutation 'R2213:Akr1c12'
ID 239541
Institutional Source Beutler Lab
Gene Symbol Akr1c12
Ensembl Gene ENSMUSG00000021211
Gene Name aldo-keto reductase family 1, member C12
Synonyms
MMRRC Submission 040215-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2213 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 4318171-4329398 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4326247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 78 (D78G)
Ref Sequence ENSEMBL: ENSMUSP00000021632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021632]
AlphaFold Q9JLI0
Predicted Effect probably damaging
Transcript: ENSMUST00000021632
AA Change: D78G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021632
Gene: ENSMUSG00000021211
AA Change: D78G

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 1.1e-63 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa1 C T 19: 20,360,239 (GRCm39) R124H probably damaging Het
Arhgef4 G A 1: 34,846,230 (GRCm39) probably null Het
C87436 G A 6: 86,422,455 (GRCm39) V10I probably benign Het
Ces1a G T 8: 93,751,853 (GRCm39) P427Q probably damaging Het
Cpm T C 10: 117,495,744 (GRCm39) Y78H probably damaging Het
Csmd3 G A 15: 47,683,843 (GRCm39) T1663I possibly damaging Het
Cul7 T C 17: 46,962,398 (GRCm39) F10L probably damaging Het
Cyp2j5 T C 4: 96,547,852 (GRCm39) N130S probably benign Het
Dclk1 G A 3: 55,387,854 (GRCm39) C100Y probably damaging Het
Ddb1 T C 19: 10,585,691 (GRCm39) L135P probably damaging Het
Dixdc1 A G 9: 50,613,245 (GRCm39) S211P probably benign Het
Dnah12 G T 14: 26,460,485 (GRCm39) K970N probably benign Het
Eps15 A G 4: 109,218,417 (GRCm39) K391E probably damaging Het
Fabp9 A G 3: 10,259,860 (GRCm39) V51A probably damaging Het
Flg T C 3: 93,200,335 (GRCm39) probably benign Het
Flnb AAGGAG AAG 14: 7,881,652 (GRCm38) probably benign Het
Fscb A T 12: 64,520,890 (GRCm39) I192N possibly damaging Het
Galntl5 A G 5: 25,422,527 (GRCm39) I333V probably benign Het
Gcnt3 A T 9: 69,941,989 (GRCm39) V193E probably benign Het
Gle1 T C 2: 29,839,313 (GRCm39) F535S probably damaging Het
Gpr87 A T 3: 59,086,465 (GRCm39) S347T probably damaging Het
Gstm2 C T 3: 107,893,409 (GRCm39) R18H probably damaging Het
H1f7 T A 15: 98,154,219 (GRCm39) Q310L unknown Het
Haus6 C T 4: 86,500,229 (GRCm39) E927K possibly damaging Het
Hunk A G 16: 90,229,505 (GRCm39) N122S probably damaging Het
Itih4 T A 14: 30,612,670 (GRCm39) V232E probably damaging Het
Jag1 G T 2: 136,931,812 (GRCm39) D586E probably benign Het
Klk1b1 T C 7: 43,619,905 (GRCm39) S155P probably damaging Het
Lama1 G T 17: 68,084,029 (GRCm39) G1424* probably null Het
Lrp1 T A 10: 127,376,571 (GRCm39) N4279I probably damaging Het
Lrrc43 G A 5: 123,641,640 (GRCm39) V525I possibly damaging Het
Lrrc4c G A 2: 97,460,816 (GRCm39) V481M probably benign Het
Mecr T A 4: 131,581,126 (GRCm39) probably null Het
Megf10 T A 18: 57,421,081 (GRCm39) Y906* probably null Het
Mpdz A G 4: 81,228,409 (GRCm39) F1319L probably damaging Het
Mtf2 A G 5: 108,248,780 (GRCm39) E364G possibly damaging Het
Nelfe T A 17: 35,072,859 (GRCm39) D160E probably benign Het
Nin A G 12: 70,092,128 (GRCm39) L727P probably damaging Het
Npat A G 9: 53,463,681 (GRCm39) T155A probably benign Het
Nup58 T C 14: 60,476,945 (GRCm39) D242G probably benign Het
Or4a78 A T 2: 89,497,891 (GRCm39) L113Q probably damaging Het
Pnlip T C 19: 58,662,202 (GRCm39) V116A probably benign Het
Prl7a2 T A 13: 27,849,051 (GRCm39) L79F probably benign Het
Rbm25 A T 12: 83,722,856 (GRCm39) I760L probably benign Het
Rbms3 A T 9: 116,788,534 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rps10 C A 17: 27,849,473 (GRCm39) probably benign Het
Slc35e4 T C 11: 3,863,159 (GRCm39) E10G possibly damaging Het
Smad2 A T 18: 76,437,697 (GRCm39) T434S probably damaging Het
Sox30 C T 11: 45,875,679 (GRCm39) S477F probably damaging Het
Speer4a3 G T 5: 26,158,175 (GRCm39) T59K probably benign Het
Stat4 A T 1: 52,053,014 (GRCm39) D65V probably damaging Het
Strip2 A G 6: 29,931,147 (GRCm39) D366G probably damaging Het
Syngap1 C A 17: 27,172,043 (GRCm39) R84S probably damaging Het
Synpo2l A G 14: 20,710,734 (GRCm39) Y629H probably damaging Het
Taf4 A T 2: 179,577,683 (GRCm39) probably null Het
Ttc21a A G 9: 119,769,527 (GRCm39) H68R probably benign Het
Txndc8 T A 4: 57,984,199 (GRCm39) Q144L probably benign Het
Tyr T G 7: 87,142,086 (GRCm39) Q158P probably damaging Het
Uchl3 T A 14: 101,904,106 (GRCm39) probably null Het
Vwa5b1 T C 4: 138,332,123 (GRCm39) K298R probably benign Het
Wrn T C 8: 33,747,043 (GRCm39) N891S probably benign Het
Ylpm1 A G 12: 85,116,492 (GRCm39) S2125G probably benign Het
Other mutations in Akr1c12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01479:Akr1c12 APN 13 4,322,934 (GRCm39) missense probably benign 0.01
IGL01603:Akr1c12 APN 13 4,322,926 (GRCm39) critical splice donor site probably null
IGL01935:Akr1c12 APN 13 4,322,244 (GRCm39) missense probably damaging 0.99
IGL02066:Akr1c12 APN 13 4,326,236 (GRCm39) missense probably damaging 0.96
IGL02224:Akr1c12 APN 13 4,329,289 (GRCm39) missense probably damaging 0.98
IGL02277:Akr1c12 APN 13 4,322,268 (GRCm39) missense probably damaging 1.00
IGL02425:Akr1c12 APN 13 4,323,749 (GRCm39) missense probably damaging 1.00
IGL02884:Akr1c12 APN 13 4,322,211 (GRCm39) missense possibly damaging 0.52
IGL02959:Akr1c12 APN 13 4,329,331 (GRCm39) missense probably benign
IGL03075:Akr1c12 APN 13 4,322,254 (GRCm39) missense probably damaging 1.00
R1216:Akr1c12 UTSW 13 4,326,322 (GRCm39) missense probably benign 0.10
R1302:Akr1c12 UTSW 13 4,322,328 (GRCm39) missense probably damaging 1.00
R1520:Akr1c12 UTSW 13 4,326,298 (GRCm39) missense probably damaging 1.00
R3944:Akr1c12 UTSW 13 4,329,339 (GRCm39) missense probably benign
R4671:Akr1c12 UTSW 13 4,323,816 (GRCm39) missense possibly damaging 0.88
R6237:Akr1c12 UTSW 13 4,325,767 (GRCm39) missense possibly damaging 0.51
R6266:Akr1c12 UTSW 13 4,320,206 (GRCm39) missense probably benign
R6467:Akr1c12 UTSW 13 4,325,772 (GRCm39) missense probably benign 0.10
R6826:Akr1c12 UTSW 13 4,325,733 (GRCm39) missense probably benign 0.06
R6865:Akr1c12 UTSW 13 4,320,212 (GRCm39) missense possibly damaging 0.79
R6874:Akr1c12 UTSW 13 4,322,959 (GRCm39) missense probably benign 0.22
R7574:Akr1c12 UTSW 13 4,329,309 (GRCm39) missense probably damaging 1.00
R8030:Akr1c12 UTSW 13 4,322,244 (GRCm39) missense possibly damaging 0.93
R8242:Akr1c12 UTSW 13 4,322,269 (GRCm39) nonsense probably null
R8295:Akr1c12 UTSW 13 4,322,355 (GRCm39) missense probably benign 0.02
R8530:Akr1c12 UTSW 13 4,320,160 (GRCm39) missense probably benign
R8749:Akr1c12 UTSW 13 4,320,155 (GRCm39) splice site probably benign
R9420:Akr1c12 UTSW 13 4,325,796 (GRCm39) missense probably damaging 1.00
Z1177:Akr1c12 UTSW 13 4,322,953 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCATTCCTTTCAACTCAGTG -3'
(R):5'- TTCCCAGAACAGGCATCTCTAAATG -3'

Sequencing Primer
(F):5'- AGCATTCCTTTCAACTCAGTGTTTAC -3'
(R):5'- GCATCTCTAAATGCCTCCTTCGG -3'
Posted On 2014-10-15