Incidental Mutation 'IGL01387:Akr1c13'
ID79095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr1c13
Ensembl Gene ENSMUSG00000021213
Gene Namealdo-keto reductase family 1, member C13
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL01387
Quality Score
Status
Chromosome13
Chromosomal Location4191150-4205596 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 4197795 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021634] [ENSMUST00000021634] [ENSMUST00000021634] [ENSMUST00000128892]
PDB Structure Crystal structure of Putative reductase (NP_038806.2) from MUS MUSCULUS at 1.18 A resolution [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000021634
SMART Domains Protein: ENSMUSP00000021634
Gene: ENSMUSG00000021213

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 7.8e-63 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000021634
SMART Domains Protein: ENSMUSP00000021634
Gene: ENSMUSG00000021213

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 7.8e-63 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000021634
SMART Domains Protein: ENSMUSP00000021634
Gene: ENSMUSG00000021213

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,999,762 I288T possibly damaging Het
Ano2 T C 6: 126,013,277 L787P probably damaging Het
Arf4 A T 14: 26,653,145 I73F possibly damaging Het
Atp6v1e1 A G 6: 120,795,771 probably null Het
Ccdc9 A C 7: 16,284,499 M1R probably null Het
Cep162 A G 9: 87,211,811 L838S probably benign Het
Cfi T A 3: 129,874,913 probably benign Het
Creb3l3 T C 10: 81,091,276 T107A probably benign Het
Erlin2 T C 8: 27,036,548 L312P probably benign Het
Etv1 T G 12: 38,861,327 M384R probably damaging Het
Exph5 G T 9: 53,373,965 S782I possibly damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Fsip2 A G 2: 82,992,982 N6353S possibly damaging Het
Gk5 T C 9: 96,177,554 probably null Het
Gm11168 T G 9: 3,005,128 S202R possibly damaging Het
Hdlbp T C 1: 93,413,588 D1016G possibly damaging Het
Kpna4 A G 3: 69,102,257 probably benign Het
Lrrn2 T C 1: 132,938,358 V387A possibly damaging Het
Olfr1084 T C 2: 86,639,250 T153A probably benign Het
Olfr1249 T A 2: 89,630,620 R93* probably null Het
Olfr1350 A G 7: 6,570,855 Y288C probably damaging Het
Olfr820 T A 10: 130,017,841 M160K probably damaging Het
Olfr937 A G 9: 39,060,321 L115S probably damaging Het
Plekhs1 A G 19: 56,470,971 Q51R probably benign Het
Rab27b T A 18: 69,985,309 D179V possibly damaging Het
Rprd2 C T 3: 95,765,319 R924H probably benign Het
Shprh T C 10: 11,170,254 I905T probably damaging Het
Trpm8 T C 1: 88,343,287 L433P probably damaging Het
Urb1 A G 16: 90,757,761 L1861S possibly damaging Het
Vmn2r124 C A 17: 18,062,926 T294K probably damaging Het
Wdr66 T A 5: 123,283,546 I654N probably damaging Het
Znrf3 A T 11: 5,338,656 C37* probably null Het
Other mutations in Akr1c13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01553:Akr1c13 APN 13 4194775 missense probably damaging 1.00
IGL01895:Akr1c13 APN 13 4205373 missense possibly damaging 0.53
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
X0020:Akr1c13 UTSW 13 4203451 critical splice donor site probably null
Posted On2013-11-05