Incidental Mutation 'IGL03094:Akr1c19'
ID418482
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr1c19
Ensembl Gene ENSMUSG00000071551
Gene Namealdo-keto reductase family 1, member C19
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03094
Quality Score
Status
Chromosome13
Chromosomal Location4228700-4252843 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 4236185 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 61 (V61I)
Ref Sequence ENSEMBL: ENSMUSP00000112666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081326] [ENSMUST00000118663]
Predicted Effect probably benign
Transcript: ENSMUST00000081326
AA Change: V61I

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000080074
Gene: ENSMUSG00000071551
AA Change: V61I

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 1.4e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118663
AA Change: V61I

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112666
Gene: ENSMUSG00000071551
AA Change: V61I

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,184,112 N1375S probably benign Het
Adamts15 A T 9: 30,904,472 probably benign Het
Ahnak G A 19: 9,003,547 V732M possibly damaging Het
BC025920 C A 10: 81,609,072 R10S probably benign Het
Cdh11 T C 8: 102,658,403 I347V probably benign Het
Cyp11b2 A G 15: 74,853,037 probably null Het
Cyp4a31 T A 4: 115,578,108 probably benign Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Glra3 C A 8: 56,125,172 H421Q probably benign Het
Gtf2f1 T C 17: 57,007,049 N145S probably damaging Het
Hsd17b12 A T 2: 94,033,994 V256E probably damaging Het
Ighv1-34 C T 12: 114,851,338 G68E probably damaging Het
Ipo5 T C 14: 120,943,677 probably benign Het
Knop1 T A 7: 118,853,151 D63V possibly damaging Het
Krt39 T C 11: 99,520,802 probably benign Het
Ldhb T C 6: 142,505,527 K5R probably benign Het
Loxhd1 A T 18: 77,431,113 I1872F possibly damaging Het
Lrfn5 A G 12: 61,839,746 N107D probably benign Het
Mks1 A G 11: 87,855,465 probably benign Het
Nup93 C T 8: 94,296,502 T236I probably benign Het
Olfr1357 A G 10: 78,612,119 I174T possibly damaging Het
Olig3 T C 10: 19,357,130 S168P probably benign Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Per3 A C 4: 151,009,298 I1020R probably damaging Het
Plbd2 T C 5: 120,486,780 N441S probably damaging Het
Plec A G 15: 76,191,319 S398P probably damaging Het
Ppm1m T G 9: 106,196,411 K314T probably damaging Het
Prmt2 T A 10: 76,210,390 probably benign Het
Rbm19 T C 5: 120,122,958 S216P probably damaging Het
Sart1 A G 19: 5,384,081 probably benign Het
Tmem225 A T 9: 40,148,386 I21L possibly damaging Het
Tnnt2 T C 1: 135,849,462 probably null Het
Trappc10 A T 10: 78,228,920 probably benign Het
Trip13 A G 13: 73,932,956 L97P probably benign Het
Zmat2 T G 18: 36,796,066 V89G probably damaging Het
Other mutations in Akr1c19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00663:Akr1c19 APN 13 4248129 utr 3 prime probably benign
IGL01522:Akr1c19 APN 13 4239099 splice site probably benign
IGL01625:Akr1c19 APN 13 4233817 missense probably damaging 1.00
IGL02863:Akr1c19 APN 13 4237113 nonsense probably null
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
Posted On2016-08-02