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: 0.058) question?
Stock # IGL01895
Quality Score
Status
Chromosome 13
Chromosomal Location 4241166-4255603 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4255372 bp (GRCm39)
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
Abcc6 A T 7: 45,678,482 (GRCm39) I56N possibly damaging Het
Atp8b3 A T 10: 80,357,662 (GRCm39) V1119D possibly damaging Het
Cacna1e G T 1: 154,319,646 (GRCm39) F1351L probably damaging Het
Cadps2 A G 6: 23,427,274 (GRCm39) W585R probably damaging Het
Ccdc113 C T 8: 96,263,086 (GRCm39) probably benign Het
Ccer1 A T 10: 97,529,912 (GRCm39) I192F unknown Het
Chd8 T C 14: 52,436,551 (GRCm39) N90S probably benign Het
Clca3a1 A T 3: 144,453,333 (GRCm39) C463* probably null Het
Cplane1 T A 15: 8,258,591 (GRCm39) V2279E possibly damaging Het
Cyp2c65 T A 19: 39,060,676 (GRCm39) C179S possibly damaging Het
Dennd4b A G 3: 90,182,874 (GRCm39) Q35R probably benign Het
Enpep T C 3: 129,063,983 (GRCm39) E928G possibly damaging Het
Fem1c T C 18: 46,638,629 (GRCm39) T458A probably benign Het
Fezf2 A T 14: 12,342,498 (GRCm38) *456R probably null Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Iqcm T G 8: 76,615,188 (GRCm39) L423R probably damaging Het
Kcnc4 C A 3: 107,355,534 (GRCm39) V305L probably benign Het
Kif1a G A 1: 92,953,455 (GRCm39) T1337I possibly damaging Het
Lpxn A G 19: 12,810,450 (GRCm39) D298G probably damaging Het
Lypd8 A G 11: 58,281,046 (GRCm39) T203A possibly damaging Het
Mrps28 C T 3: 8,965,119 (GRCm39) V107M probably damaging Het
Myo15b A G 11: 115,774,324 (GRCm39) E586G possibly damaging Het
Pdzk1 C T 3: 96,776,417 (GRCm39) A459V possibly damaging Het
Rbpj A G 5: 53,808,728 (GRCm39) D285G probably damaging Het
Rimbp3 T C 16: 17,029,300 (GRCm39) L908P probably damaging Het
Samd4b T C 7: 28,101,334 (GRCm39) probably null Het
Slc28a2b A C 2: 122,355,572 (GRCm39) Y588S possibly damaging Het
Stau2 C T 1: 16,416,161 (GRCm39) G401S probably damaging Het
Trpa1 A T 1: 14,957,867 (GRCm39) I697K possibly damaging Het
Ttc17 A C 2: 94,205,491 (GRCm39) V285G possibly damaging Het
Unc5b A G 10: 60,602,864 (GRCm39) F845S probably damaging Het
Vmn1r19 A T 6: 57,382,245 (GRCm39) Q266L probably benign Het
Vmn2r106 T C 17: 20,499,227 (GRCm39) N228S probably benign Het
Vps13d A G 4: 144,882,836 (GRCm39) F919S possibly damaging Het
Zbtb38 C T 9: 96,570,461 (GRCm39) V208I probably benign Het
Zfp990 A T 4: 145,263,427 (GRCm39) T142S probably damaging Het
Zfp990 C A 4: 145,263,428 (GRCm39) T142N probably damaging Het
Other mutations in Akr1c13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01387:Akr1c13 APN 13 4,247,794 (GRCm39) splice site probably null
IGL01553:Akr1c13 APN 13 4,244,774 (GRCm39) missense probably damaging 1.00
IGL02029:Akr1c13 APN 13 4,255,361 (GRCm39) nonsense probably null
IGL02316:Akr1c13 APN 13 4,253,458 (GRCm39) unclassified probably benign
IGL02949:Akr1c13 APN 13 4,248,593 (GRCm39) missense probably damaging 0.99
R0050:Akr1c13 UTSW 13 4,244,669 (GRCm39) splice site probably benign
R0184:Akr1c13 UTSW 13 4,244,055 (GRCm39) missense probably damaging 0.98
R0470:Akr1c13 UTSW 13 4,248,500 (GRCm39) missense probably damaging 1.00
R0722:Akr1c13 UTSW 13 4,247,931 (GRCm39) splice site probably null
R0791:Akr1c13 UTSW 13 4,244,111 (GRCm39) missense probably damaging 1.00
R0792:Akr1c13 UTSW 13 4,244,111 (GRCm39) missense probably damaging 1.00
R2106:Akr1c13 UTSW 13 4,248,593 (GRCm39) missense probably damaging 0.99
R2509:Akr1c13 UTSW 13 4,248,583 (GRCm39) missense probably damaging 1.00
R4624:Akr1c13 UTSW 13 4,247,869 (GRCm39) missense probably damaging 1.00
R4626:Akr1c13 UTSW 13 4,247,869 (GRCm39) missense probably damaging 1.00
R4627:Akr1c13 UTSW 13 4,247,869 (GRCm39) missense probably damaging 1.00
R4628:Akr1c13 UTSW 13 4,247,869 (GRCm39) missense probably damaging 1.00
R4629:Akr1c13 UTSW 13 4,247,869 (GRCm39) missense probably damaging 1.00
R4764:Akr1c13 UTSW 13 4,248,496 (GRCm39) missense probably benign 0.05
R5112:Akr1c13 UTSW 13 4,244,151 (GRCm39) missense possibly damaging 0.70
R5149:Akr1c13 UTSW 13 4,244,168 (GRCm39) missense probably benign 0.10
R5203:Akr1c13 UTSW 13 4,247,896 (GRCm39) nonsense probably null
R5408:Akr1c13 UTSW 13 4,244,715 (GRCm39) missense probably benign 0.00
R5776:Akr1c13 UTSW 13 4,244,186 (GRCm39) missense probably damaging 1.00
R6469:Akr1c13 UTSW 13 4,246,511 (GRCm39) critical splice donor site probably null
R7466:Akr1c13 UTSW 13 4,242,436 (GRCm39) critical splice donor site probably benign
R9080:Akr1c13 UTSW 13 4,241,172 (GRCm39) unclassified probably benign
X0020:Akr1c13 UTSW 13 4,253,450 (GRCm39) critical splice donor site probably null
Posted On 2014-05-07