Incidental Mutation 'IGL01895:Akr1c13'
ID 179356
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr1c13
Ensembl Gene ENSMUSG00000021213
Gene Name aldo-keto reductase family 1, member C13
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL01895
Quality Score
Status
Chromosome 13
Chromosomal Location 4191150-4205596 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4205373 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 321 (E321V)
Ref Sequence ENSEMBL: ENSMUSP00000021634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021634]
AlphaFold Q8VC28
PDB Structure Crystal structure of Putative reductase (NP_038806.2) from MUS MUSCULUS at 1.18 A resolution [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021634
AA Change: E321V

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021634
Gene: ENSMUSG00000021213
AA Change: E321V

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 7.8e-63 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T A 15: 8,229,107 V2279E possibly damaging Het
Abcc6 A T 7: 46,029,058 I56N possibly damaging Het
Atp8b3 A T 10: 80,521,828 V1119D possibly damaging Het
Cacna1e G T 1: 154,443,900 F1351L probably damaging Het
Cadps2 A G 6: 23,427,275 W585R probably damaging Het
Ccdc113 C T 8: 95,536,458 probably benign Het
Ccer1 A T 10: 97,694,050 I192F unknown Het
Chd8 T C 14: 52,199,094 N90S probably benign Het
Clca3a1 A T 3: 144,747,572 C463* probably null Het
Cyp2c65 T A 19: 39,072,232 C179S possibly damaging Het
Dennd4b A G 3: 90,275,567 Q35R probably benign Het
Enpep T C 3: 129,270,334 E928G possibly damaging Het
Fem1c T C 18: 46,505,562 T458A probably benign Het
Fezf2 A T 14: 12,342,498 *456R probably null Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm14085 A C 2: 122,525,091 Y588S possibly damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Iqcm T G 8: 75,888,560 L423R probably damaging Het
Kcnc4 C A 3: 107,448,218 V305L probably benign Het
Kif1a G A 1: 93,025,733 T1337I possibly damaging Het
Lpxn A G 19: 12,833,086 D298G probably damaging Het
Lypd8 A G 11: 58,390,220 T203A possibly damaging Het
Mrps28 C T 3: 8,900,059 V107M probably damaging Het
Myo15b A G 11: 115,883,498 E586G possibly damaging Het
Pdzk1 C T 3: 96,869,101 A459V possibly damaging Het
Rbpj A G 5: 53,651,386 D285G probably damaging Het
Rimbp3 T C 16: 17,211,436 L908P probably damaging Het
Samd4b T C 7: 28,401,909 probably null Het
Stau2 C T 1: 16,345,937 G401S probably damaging Het
Trpa1 A T 1: 14,887,643 I697K possibly damaging Het
Ttc17 A C 2: 94,375,146 V285G possibly damaging Het
Unc5b A G 10: 60,767,085 F845S probably damaging Het
Vmn1r19 A T 6: 57,405,260 Q266L probably benign Het
Vmn2r106 T C 17: 20,278,965 N228S probably benign Het
Vps13d A G 4: 145,156,266 F919S possibly damaging Het
Zbtb38 C T 9: 96,688,408 V208I probably benign Het
Zfp990 A T 4: 145,536,857 T142S probably damaging Het
Zfp990 C A 4: 145,536,858 T142N probably damaging Het
Other mutations in Akr1c13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01387:Akr1c13 APN 13 4197795 splice site probably null
IGL01553:Akr1c13 APN 13 4194775 missense probably damaging 1.00
IGL02029:Akr1c13 APN 13 4205362 nonsense probably null
IGL02316:Akr1c13 APN 13 4203459 unclassified probably benign
IGL02949:Akr1c13 APN 13 4198594 missense probably damaging 0.99
R0050:Akr1c13 UTSW 13 4194670 splice site probably benign
R0184:Akr1c13 UTSW 13 4194056 missense probably damaging 0.98
R0470:Akr1c13 UTSW 13 4198501 missense probably damaging 1.00
R0722:Akr1c13 UTSW 13 4197932 splice site probably null
R0791:Akr1c13 UTSW 13 4194112 missense probably damaging 1.00
R0792:Akr1c13 UTSW 13 4194112 missense probably damaging 1.00
R2106:Akr1c13 UTSW 13 4198594 missense probably damaging 0.99
R2509:Akr1c13 UTSW 13 4198584 missense probably damaging 1.00
R4624:Akr1c13 UTSW 13 4197870 missense probably damaging 1.00
R4626:Akr1c13 UTSW 13 4197870 missense probably damaging 1.00
R4627:Akr1c13 UTSW 13 4197870 missense probably damaging 1.00
R4628:Akr1c13 UTSW 13 4197870 missense probably damaging 1.00
R4629:Akr1c13 UTSW 13 4197870 missense probably damaging 1.00
R4764:Akr1c13 UTSW 13 4198497 missense probably benign 0.05
R5112:Akr1c13 UTSW 13 4194152 missense possibly damaging 0.70
R5149:Akr1c13 UTSW 13 4194169 missense probably benign 0.10
R5203:Akr1c13 UTSW 13 4197897 nonsense probably null
R5408:Akr1c13 UTSW 13 4194716 missense probably benign 0.00
R5776:Akr1c13 UTSW 13 4194187 missense probably damaging 1.00
R6469:Akr1c13 UTSW 13 4196512 critical splice donor site probably null
R7466:Akr1c13 UTSW 13 4192437 critical splice donor site probably benign
R9080:Akr1c13 UTSW 13 4191173 unclassified probably benign
X0020:Akr1c13 UTSW 13 4203451 critical splice donor site probably null
Posted On 2014-05-07