Incidental Mutation 'IGL02949:Akr1c13'
ID 364879
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 # IGL02949
Quality Score
Status
Chromosome 13
Chromosomal Location 4241166-4255603 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4248593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 266 (V266E)
Ref Sequence ENSEMBL: ENSMUSP00000021634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021634] [ENSMUST00000128892]
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 probably damaging
Transcript: ENSMUST00000021634
AA Change: V266E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021634
Gene: ENSMUSG00000021213
AA Change: V266E

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 7.8e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140971
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,344,490 (GRCm39) V89I probably damaging Het
Abhd5 T C 9: 122,206,980 (GRCm39) F89L possibly damaging Het
B4galt2 C T 4: 117,738,602 (GRCm39) A72T probably benign Het
Ccdc141 T C 2: 76,857,938 (GRCm39) Y1081C probably damaging Het
Coq8b T C 7: 26,956,038 (GRCm39) V405A possibly damaging Het
Ddah2 A G 17: 35,280,776 (GRCm39) K251E probably damaging Het
Dnah5 T C 15: 28,272,331 (GRCm39) V1045A probably benign Het
Dpy19l1 A T 9: 24,332,476 (GRCm39) M662K probably benign Het
Dpys A G 15: 39,690,279 (GRCm39) V358A probably damaging Het
H2-D1 A G 17: 35,483,064 (GRCm39) N198S probably benign Het
Hnrnpa1 T C 15: 103,150,538 (GRCm39) V163A probably damaging Het
Hr C T 14: 70,797,225 (GRCm39) R543C possibly damaging Het
Lct C T 1: 128,240,869 (GRCm39) V245M probably benign Het
Lpl G A 8: 69,345,400 (GRCm39) V135M probably damaging Het
Mblac1 T A 5: 138,193,119 (GRCm39) C154S probably benign Het
Mmp9 T C 2: 164,793,039 (GRCm39) F396S probably damaging Het
Mroh1 A T 15: 76,293,168 (GRCm39) H314L probably damaging Het
Msantd4 T A 9: 4,385,196 (GRCm39) L307Q probably damaging Het
Nol8 A G 13: 49,815,878 (GRCm39) D662G probably benign Het
Nynrin G A 14: 56,109,837 (GRCm39) S1648N probably damaging Het
Or52a20 A G 7: 103,366,427 (GRCm39) I209V probably benign Het
Plcb2 C T 2: 118,549,590 (GRCm39) probably null Het
Scyl2 T A 10: 89,496,163 (GRCm39) N229I possibly damaging Het
Spryd3 C T 15: 102,026,544 (GRCm39) E376K probably benign Het
Srr T G 11: 74,799,563 (GRCm39) E304A probably benign Het
Srsf1 A G 11: 87,940,352 (GRCm39) probably benign Het
Txnrd2 T G 16: 18,296,456 (GRCm39) S473A probably benign Het
Wdr18 T A 10: 79,800,889 (GRCm39) C151S probably benign Het
Zfp282 C T 6: 47,874,848 (GRCm39) T351I 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
IGL01895:Akr1c13 APN 13 4,255,372 (GRCm39) missense possibly damaging 0.53
IGL02029:Akr1c13 APN 13 4,255,361 (GRCm39) nonsense probably null
IGL02316:Akr1c13 APN 13 4,253,458 (GRCm39) unclassified probably benign
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 2015-12-18