Incidental Mutation 'IGL00840:Akr1b10'
ID13291
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr1b10
Ensembl Gene ENSMUSG00000061758
Gene Namealdo-keto reductase family 1, member B10 (aldose reductase)
Synonyms2310005E10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.048) question?
Stock #IGL00840
Quality Score
Status
Chromosome6
Chromosomal Location34384218-34396950 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34394106 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 264 (S264P)
Ref Sequence ENSEMBL: ENSMUSP00000039114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038383] [ENSMUST00000115051] [ENSMUST00000139156]
Predicted Effect possibly damaging
Transcript: ENSMUST00000038383
AA Change: S264P

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000039114
Gene: ENSMUSG00000061758
AA Change: S264P

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 15 294 2.1e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115051
AA Change: S236P

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110703
Gene: ENSMUSG00000061758
AA Change: S236P

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 266 2e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139156
SMART Domains Protein: ENSMUSP00000138639
Gene: ENSMUSG00000061758

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 15 128 2.3e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182055
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 T C 15: 94,282,482 Y1764C probably damaging Het
Agbl3 T C 6: 34,799,159 V200A possibly damaging Het
Camkmt T G 17: 85,458,123 L319* probably null Het
Cdhr2 T C 13: 54,720,152 W513R probably damaging Het
Cts8 T C 13: 61,251,578 Y189C probably damaging Het
Cyp2d10 T A 15: 82,404,490 T264S probably benign Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dnah8 G A 17: 30,790,941 V3769M probably damaging Het
Dnajc16 C A 4: 141,768,003 G468V probably damaging Het
Eif3d A T 15: 77,961,869 N351K probably benign Het
F5 T C 1: 164,179,524 M299T probably benign Het
Fcamr G A 1: 130,813,214 V457M probably benign Het
Gm4763 A T 7: 24,723,506 L129H probably damaging Het
Heatr5b A G 17: 78,765,437 L1599P probably damaging Het
Kl A T 5: 150,980,787 I335F possibly damaging Het
Knop1 A G 7: 118,852,798 Y233H probably damaging Het
Lhcgr T C 17: 88,753,736 probably benign Het
Macrod2 A T 2: 142,176,658 N237I possibly damaging Het
Myo7a T C 7: 98,051,659 S2168G probably benign Het
Naxe T C 3: 88,057,983 I108V probably benign Het
Ncbp1 T A 4: 46,161,307 W428R probably damaging Het
Nxpe3 T C 16: 55,844,232 I542V probably damaging Het
Phkb T A 8: 85,957,587 S424R probably benign Het
Rgs20 C T 1: 5,070,015 V55I probably benign Het
Ros1 T G 10: 52,144,873 T648P possibly damaging Het
Rpgr T C X: 10,208,709 I233V possibly damaging Het
Slc25a31 T C 3: 40,724,877 S258P probably benign Het
Soat1 A C 1: 156,434,196 V414G probably damaging Het
St18 A T 1: 6,833,594 E693V probably damaging Het
Svil T C 18: 5,063,555 V1029A probably benign Het
Tnfaip3 C A 10: 19,005,126 V398L probably damaging Het
Ubap1 A G 4: 41,379,562 T259A probably benign Het
Wdr7 A G 18: 63,927,327 E1347G possibly damaging Het
Other mutations in Akr1b10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Akr1b10 APN 6 34388902 splice site probably benign
IGL01906:Akr1b10 APN 6 34387811 missense probably benign
R0552:Akr1b10 UTSW 6 34392985 missense possibly damaging 0.52
R0732:Akr1b10 UTSW 6 34390109 missense probably benign
R1371:Akr1b10 UTSW 6 34392459 missense probably benign 0.28
R1895:Akr1b10 UTSW 6 34388870 missense probably damaging 1.00
R3704:Akr1b10 UTSW 6 34394754 missense probably damaging 0.98
R3704:Akr1b10 UTSW 6 34394755 missense probably benign 0.00
R3975:Akr1b10 UTSW 6 34392496 critical splice donor site probably null
R4020:Akr1b10 UTSW 6 34392453 missense probably benign 0.42
R4573:Akr1b10 UTSW 6 34392129 missense probably damaging 1.00
R5062:Akr1b10 UTSW 6 34392106 missense probably damaging 1.00
R5540:Akr1b10 UTSW 6 34394112 missense probably damaging 1.00
R6012:Akr1b10 UTSW 6 34387780 missense probably damaging 1.00
R6021:Akr1b10 UTSW 6 34392374 splice site probably null
R6256:Akr1b10 UTSW 6 34387688 missense probably damaging 1.00
Posted On2012-12-06