Incidental Mutation 'IGL01906:Akr1b10'
ID179663
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: 0.058) question?
Stock #IGL01906
Quality Score
Status
Chromosome6
Chromosomal Location34384218-34396950 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34387811 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 69 (K69R)
Ref Sequence ENSEMBL: ENSMUSP00000138639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038383] [ENSMUST00000115051] [ENSMUST00000139156]
Predicted Effect probably benign
Transcript: ENSMUST00000038383
AA Change: K69R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039114
Gene: ENSMUSG00000061758
AA Change: K69R

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 15 294 2.1e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115051
AA Change: K41R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110703
Gene: ENSMUSG00000061758
AA Change: K41R

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 266 2e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139156
AA Change: K69R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138639
Gene: ENSMUSG00000061758
AA Change: K69R

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,216,225 Q24L probably damaging Het
Adam1b A T 5: 121,501,475 N502K probably benign Het
Adam6a T A 12: 113,544,331 M108K probably benign Het
Ap5b1 T A 19: 5,570,979 L809* probably null Het
Asxl3 A T 18: 22,522,281 H1116L probably benign Het
Birc6 A G 17: 74,638,358 T2794A probably damaging Het
Bst1 T C 5: 43,837,519 F248L probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cep120 A T 18: 53,714,912 V625E probably benign Het
Cgnl1 T C 9: 71,724,567 M501V probably benign Het
Col19a1 T A 1: 24,317,429 D661V probably damaging Het
Copb2 A T 9: 98,580,330 E456V probably benign Het
Csk A G 9: 57,629,021 I201T probably damaging Het
Cttnbp2 G T 6: 18,378,376 S977* probably null Het
Ddr2 A G 1: 169,982,099 W770R probably damaging Het
Dnah7b T C 1: 46,175,453 I1126T probably damaging Het
Dusp27 A C 1: 166,099,523 L840R probably damaging Het
Ephb4 A T 5: 137,361,194 E342V probably damaging Het
Erc2 T A 14: 28,141,306 L496Q probably damaging Het
Faim2 G A 15: 99,514,433 T140I probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Haus3 A C 5: 34,168,323 probably benign Het
Hmcn1 T C 1: 150,667,887 T2846A probably benign Het
Mto1 T C 9: 78,464,931 V561A probably benign Het
Myb T C 10: 21,152,634 Y110C probably damaging Het
Olfr1280 T C 2: 111,315,901 C141R probably damaging Het
Plcd3 T C 11: 103,076,856 Y420C probably damaging Het
Plk4 G T 3: 40,810,381 M603I probably null Het
Scgb1b24 T C 7: 33,744,113 C66R probably damaging Het
Sec23a T C 12: 59,007,044 Y56C probably damaging Het
Setd1b C A 5: 123,157,667 D1099E unknown Het
Sh2d7 G A 9: 54,539,466 probably benign Het
Slc30a10 A T 1: 185,456,396 K221* probably null Het
Slc5a1 T C 5: 33,154,653 L463P probably damaging Het
Strc T C 2: 121,377,634 T419A probably benign Het
Ttc39a T C 4: 109,421,394 M82T probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13b T C 15: 35,639,847 probably benign Het
Other mutations in Akr1b10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Akr1b10 APN 6 34388902 splice site probably benign
IGL00840:Akr1b10 APN 6 34394106 missense possibly damaging 0.61
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
R7963:Akr1b10 UTSW 6 34387708 missense possibly damaging 0.93
R8696:Akr1b10 UTSW 6 34392132 missense possibly damaging 0.49
Posted On2014-05-07