Incidental Mutation 'IGL02201:Akr1c14'
ID 284187
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr1c14
Ensembl Gene ENSMUSG00000033715
Gene Name aldo-keto reductase family 1, member C14
Synonyms 9030611N15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02201
Quality Score
Status
Chromosome 13
Chromosomal Location 4099015-4140569 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4131022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 238 (D238G)
Ref Sequence ENSEMBL: ENSMUSP00000112664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041768] [ENSMUST00000118717] [ENSMUST00000147180]
AlphaFold Q91WT7
Predicted Effect probably damaging
Transcript: ENSMUST00000041768
AA Change: D238G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045394
Gene: ENSMUSG00000033715
AA Change: D238G

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 2.4e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118717
AA Change: D238G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112664
Gene: ENSMUSG00000033715
AA Change: D238G

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 8.1e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147180
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 G A 1: 78,676,870 (GRCm39) G484R probably damaging Het
Adgrb3 A G 1: 25,459,631 (GRCm39) probably benign Het
Ccdc88b T A 19: 6,823,999 (GRCm39) D1418V probably damaging Het
Cnnm4 A T 1: 36,511,831 (GRCm39) K353M probably damaging Het
Col6a6 A G 9: 105,658,194 (GRCm39) F673L probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dyrk1a A G 16: 94,493,008 (GRCm39) E747G probably benign Het
Eml5 T A 12: 98,760,683 (GRCm39) probably benign Het
Ercc6l2 A G 13: 64,000,783 (GRCm39) N516D probably benign Het
Fbxl17 A G 17: 63,806,024 (GRCm39) L330P probably damaging Het
Fgr A T 4: 132,722,235 (GRCm39) Y168F probably damaging Het
Frem2 T G 3: 53,427,061 (GRCm39) K2962N probably benign Het
Hdac4 G T 1: 91,915,382 (GRCm39) probably null Het
Il1r1 A T 1: 40,352,428 (GRCm39) N533Y probably damaging Het
Kcnab2 T C 4: 152,486,375 (GRCm39) probably benign Het
Knl1 C T 2: 118,899,633 (GRCm39) P445S probably benign Het
Lamb2 G A 9: 108,364,741 (GRCm39) C1165Y probably damaging Het
Nisch C T 14: 30,909,051 (GRCm39) probably benign Het
Or1i2 C T 10: 78,448,104 (GRCm39) V124M probably damaging Het
Or2m12 A T 16: 19,105,212 (GRCm39) S94T probably benign Het
Or8b40 A G 9: 38,027,893 (GRCm39) D267G probably benign Het
Or8h7 A G 2: 86,721,420 (GRCm39) L33P probably damaging Het
Pde3b T A 7: 114,133,843 (GRCm39) M953K probably damaging Het
Pdzph1 A G 17: 59,274,506 (GRCm39) probably benign Het
Plce1 T C 19: 38,757,890 (GRCm39) probably benign Het
Prr23a3 G T 9: 98,747,297 (GRCm39) V84L possibly damaging Het
Psg26 A G 7: 18,214,071 (GRCm39) V197A probably benign Het
Ptpra T A 2: 30,336,389 (GRCm39) C80S possibly damaging Het
Ripk4 A T 16: 97,556,377 (GRCm39) V122E possibly damaging Het
Scd2 A G 19: 44,289,779 (GRCm39) N258S probably damaging Het
Slc38a1 A T 15: 96,476,679 (GRCm39) V394E probably damaging Het
Slc7a15 A G 12: 8,589,023 (GRCm39) S175P possibly damaging Het
Tacc2 T A 7: 130,227,942 (GRCm39) D1542E possibly damaging Het
Trim67 G T 8: 125,520,797 (GRCm39) R53L probably benign Het
Urah A T 7: 140,415,576 (GRCm39) T38S probably damaging Het
Vps13c A G 9: 67,874,418 (GRCm39) S3362G probably damaging Het
Wwc1 T C 11: 35,734,978 (GRCm39) probably benign Het
Zfyve28 T C 5: 34,400,549 (GRCm39) T50A probably damaging Het
Other mutations in Akr1c14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Akr1c14 APN 13 4,131,139 (GRCm39) missense probably damaging 1.00
IGL02085:Akr1c14 APN 13 4,128,035 (GRCm39) nonsense probably null
IGL02419:Akr1c14 APN 13 4,130,617 (GRCm39) critical splice acceptor site probably null
IGL03293:Akr1c14 APN 13 4,129,130 (GRCm39) nonsense probably null
PIT4362001:Akr1c14 UTSW 13 4,129,100 (GRCm39) missense probably damaging 1.00
R0518:Akr1c14 UTSW 13 4,131,016 (GRCm39) missense probably damaging 1.00
R2168:Akr1c14 UTSW 13 4,131,106 (GRCm39) missense probably damaging 1.00
R4751:Akr1c14 UTSW 13 4,115,338 (GRCm39) missense possibly damaging 0.61
R4812:Akr1c14 UTSW 13 4,129,165 (GRCm39) missense probably damaging 1.00
R5030:Akr1c14 UTSW 13 4,129,102 (GRCm39) missense probably damaging 1.00
R6329:Akr1c14 UTSW 13 4,137,302 (GRCm39) missense probably damaging 1.00
R6590:Akr1c14 UTSW 13 4,113,713 (GRCm39) missense possibly damaging 0.90
R6612:Akr1c14 UTSW 13 4,115,331 (GRCm39) missense probably benign 0.00
R6690:Akr1c14 UTSW 13 4,113,713 (GRCm39) missense possibly damaging 0.90
R7033:Akr1c14 UTSW 13 4,129,178 (GRCm39) critical splice donor site probably null
R7200:Akr1c14 UTSW 13 4,131,051 (GRCm39) missense probably benign 0.00
R7257:Akr1c14 UTSW 13 4,138,966 (GRCm39) missense probably benign 0.03
R7432:Akr1c14 UTSW 13 4,138,952 (GRCm39) missense probably benign
R7536:Akr1c14 UTSW 13 4,113,690 (GRCm39) missense probably damaging 1.00
R7769:Akr1c14 UTSW 13 4,109,644 (GRCm39) missense probably benign 0.00
R7941:Akr1c14 UTSW 13 4,109,713 (GRCm39) missense probably benign
R8292:Akr1c14 UTSW 13 4,130,995 (GRCm39) missense possibly damaging 0.89
R8700:Akr1c14 UTSW 13 4,131,157 (GRCm39) critical splice donor site probably benign
R9135:Akr1c14 UTSW 13 4,128,029 (GRCm39) missense probably damaging 1.00
R9224:Akr1c14 UTSW 13 4,130,695 (GRCm39) missense possibly damaging 0.51
R9263:Akr1c14 UTSW 13 4,113,620 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16