Incidental Mutation 'IGL01522:Akr1c19'
ID 89457
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr1c19
Ensembl Gene ENSMUSG00000071551
Gene Name aldo-keto reductase family 1, member C19
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01522
Quality Score
Status
Chromosome 13
Chromosomal Location 4228700-4252843 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 4239099 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081326] [ENSMUST00000118663]
AlphaFold G3X9Y6
Predicted Effect probably benign
Transcript: ENSMUST00000081326
SMART Domains Protein: ENSMUSP00000080074
Gene: ENSMUSG00000071551

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 1.4e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118663
SMART Domains Protein: ENSMUSP00000112666
Gene: ENSMUSG00000071551

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 9.9e-67 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,582,865 probably null Het
Adamts12 T C 15: 11,065,159 probably null Het
Adamts3 T C 5: 89,702,943 N579S probably benign Het
Ankrd39 T A 1: 36,542,061 H69L probably damaging Het
Apcdd1 T A 18: 62,952,115 M461K possibly damaging Het
Bpifa3 G A 2: 154,137,582 C209Y probably damaging Het
Cep131 T C 11: 120,067,163 E779G probably benign Het
Cep85 T C 4: 134,152,255 Q394R probably damaging Het
Cep85 G T 4: 134,152,256 Q394K probably damaging Het
Clcn6 T C 4: 148,017,535 Y364C probably benign Het
Fetub G A 16: 22,929,641 M1I probably null Het
Greb1 T C 12: 16,701,201 I1003V probably damaging Het
Hsf3 A G X: 96,320,594 probably benign Het
Jcad A G 18: 4,673,312 N358S probably damaging Het
Kndc1 T C 7: 139,913,972 probably benign Het
Lama1 A T 17: 67,752,774 probably benign Het
Mark2 A G 19: 7,281,238 V50A probably benign Het
Mmp7 T C 9: 7,692,228 W35R probably damaging Het
Ndc80 A G 17: 71,499,325 V578A probably benign Het
Nfyc T C 4: 120,781,524 E42G probably damaging Het
Olfr1164 T C 2: 88,093,016 K307E possibly damaging Het
Olfr1504 A T 19: 13,887,358 L284* probably null Het
Olfr344 A G 2: 36,569,221 T208A probably benign Het
Olfr547 A T 7: 102,535,184 I146F probably damaging Het
Olfr935 A T 9: 38,995,100 C112S probably benign Het
Pcdha11 T C 18: 37,185,008 F925L probably damaging Het
Pdcd1 T G 1: 94,040,846 R154S probably benign Het
Pepd T A 7: 34,924,440 D87E probably benign Het
Pfn4 A G 12: 4,770,240 T30A probably benign Het
Pgpep1l A G 7: 68,237,708 M48T possibly damaging Het
Pla2g15 A G 8: 106,163,116 N340S probably benign Het
Plcb4 A G 2: 136,002,627 D155G probably damaging Het
Plg G A 17: 12,404,069 G499S probably damaging Het
Plin3 C T 17: 56,280,799 W305* probably null Het
Polq C A 16: 37,027,903 L291I probably damaging Het
Sdf2l1 T A 16: 17,132,150 H54L probably damaging Het
Slc38a2 C T 15: 96,693,055 D276N possibly damaging Het
Syk A G 13: 52,643,061 T576A probably benign Het
Tas2r119 G A 15: 32,178,193 V302I probably benign Het
Uso1 T C 5: 92,181,419 F389L probably damaging Het
Wwc2 T A 8: 47,868,633 Y482F unknown Het
Other mutations in Akr1c19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00663:Akr1c19 APN 13 4248129 utr 3 prime probably benign
IGL01625:Akr1c19 APN 13 4233817 missense probably damaging 1.00
IGL02863:Akr1c19 APN 13 4237113 nonsense probably null
IGL03094:Akr1c19 APN 13 4236185 missense probably benign 0.22
IGL03232:Akr1c19 APN 13 4238463 missense probably damaging 0.96
R0504:Akr1c19 UTSW 13 4236251 missense possibly damaging 0.83
R0538:Akr1c19 UTSW 13 4237100 missense probably damaging 1.00
R0607:Akr1c19 UTSW 13 4238460 missense probably benign 0.09
R2068:Akr1c19 UTSW 13 4238392 critical splice acceptor site probably null
R3701:Akr1c19 UTSW 13 4243033 missense probably damaging 1.00
R3893:Akr1c19 UTSW 13 4238442 missense probably damaging 1.00
R4369:Akr1c19 UTSW 13 4233780 nonsense probably null
R4434:Akr1c19 UTSW 13 4242616 missense probably benign 0.28
R5545:Akr1c19 UTSW 13 4242595 missense probably benign 0.01
R5584:Akr1c19 UTSW 13 4243032 missense probably damaging 1.00
R6988:Akr1c19 UTSW 13 4233758 start gained probably benign
R7286:Akr1c19 UTSW 13 4246819 missense probably damaging 1.00
R7365:Akr1c19 UTSW 13 4237070 missense probably benign 0.01
R7879:Akr1c19 UTSW 13 4236224 missense probably damaging 1.00
R8177:Akr1c19 UTSW 13 4242592 missense probably benign 0.01
R8868:Akr1c19 UTSW 13 4243071 missense probably benign 0.00
R9248:Akr1c19 UTSW 13 4242975 missense probably benign
Posted On 2013-12-03