Incidental Mutation 'R0552:Akr1b10'
ID 45230
Institutional Source Beutler Lab
Gene Symbol Akr1b10
Ensembl Gene ENSMUSG00000061758
Gene Name aldo-keto reductase family 1, member B10
Synonyms 2310005E10Rik
MMRRC Submission 038744-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R0552 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 34361182-34373884 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34369920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 216 (T216A)
Ref Sequence ENSEMBL: ENSMUSP00000110703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038383] [ENSMUST00000115051] [ENSMUST00000139156]
AlphaFold G5E895
Predicted Effect probably benign
Transcript: ENSMUST00000038383
AA Change: T244A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000039114
Gene: ENSMUSG00000061758
AA Change: T244A

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 15 294 2.1e-61 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115051
AA Change: T216A

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110703
Gene: ENSMUSG00000061758
AA Change: T216A

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A T 8: 25,453,026 (GRCm39) N760K probably benign Het
Ahcyl T A 16: 45,974,955 (GRCm39) T141S probably benign Het
Arsj A G 3: 126,232,993 (GRCm39) R580G probably benign Het
C9 A T 15: 6,474,918 (GRCm39) I26F probably damaging Het
Cacna2d1 A G 5: 16,533,041 (GRCm39) E578G probably damaging Het
Clca4b C T 3: 144,622,536 (GRCm39) V510I probably benign Het
Dab2 C T 15: 6,464,895 (GRCm39) T561I possibly damaging Het
Golga5 A T 12: 102,450,752 (GRCm39) E12D possibly damaging Het
Hsd17b12 A T 2: 93,874,280 (GRCm39) F208I probably damaging Het
Inf2 A G 12: 112,579,008 (GRCm39) probably benign Het
Kcnh3 T A 15: 99,127,337 (GRCm39) W378R probably damaging Het
Klhdc8b G C 9: 108,326,422 (GRCm39) R158G possibly damaging Het
Klhl41 G A 2: 69,500,554 (GRCm39) R5Q probably benign Het
Lcn3 T C 2: 25,656,421 (GRCm39) probably null Het
Mppe1 A G 18: 67,370,419 (GRCm39) probably null Het
Muc20 G A 16: 32,614,300 (GRCm39) A359V probably damaging Het
Myh14 T C 7: 44,263,105 (GRCm39) D1765G probably damaging Het
Or10j2 T C 1: 173,098,372 (GRCm39) M210T probably benign Het
Or4c10b C T 2: 89,711,235 (GRCm39) Q22* probably null Het
Or5p58 A G 7: 107,693,985 (GRCm39) M264T probably benign Het
Pbrm1 T A 14: 30,757,916 (GRCm39) L182Q probably damaging Het
Pde8a A G 7: 80,967,095 (GRCm39) N412S probably benign Het
Phyh A G 2: 4,940,912 (GRCm39) T271A probably damaging Het
Pkhd1l1 T C 15: 44,352,942 (GRCm39) S258P probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pyroxd1 A G 6: 142,291,463 (GRCm39) E2G probably benign Het
Ralgapa1 G T 12: 55,723,550 (GRCm39) Q2115K probably benign Het
Rufy3 A G 5: 88,732,129 (GRCm39) E44G possibly damaging Het
Slit2 A T 5: 48,395,721 (GRCm39) N712I probably damaging Het
Sptbn1 A G 11: 30,095,985 (GRCm39) M303T possibly damaging Het
Ssbp4 A G 8: 71,052,509 (GRCm39) I154T probably benign Het
Syne2 A G 12: 75,977,778 (GRCm39) K1409E probably benign Het
Tfap2b T C 1: 19,304,449 (GRCm39) Y420H probably damaging Het
Tlr5 A G 1: 182,803,261 (GRCm39) probably null Het
Tmprss15 C T 16: 78,821,637 (GRCm39) probably null Het
Tns1 A T 1: 73,959,722 (GRCm39) I418N probably damaging Het
Txlna A T 4: 129,522,984 (GRCm39) V452D probably benign Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Zfp563 A T 17: 33,323,659 (GRCm39) S85C possibly damaging Het
Zfp764l1 A T 7: 126,991,504 (GRCm39) I161N possibly damaging Het
Other mutations in Akr1b10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Akr1b10 APN 6 34,365,837 (GRCm39) splice site probably benign
IGL00840:Akr1b10 APN 6 34,371,041 (GRCm39) missense possibly damaging 0.61
IGL01906:Akr1b10 APN 6 34,364,746 (GRCm39) missense probably benign
R0732:Akr1b10 UTSW 6 34,367,044 (GRCm39) missense probably benign
R1371:Akr1b10 UTSW 6 34,369,394 (GRCm39) missense probably benign 0.28
R1895:Akr1b10 UTSW 6 34,365,805 (GRCm39) missense probably damaging 1.00
R3704:Akr1b10 UTSW 6 34,371,690 (GRCm39) missense probably benign 0.00
R3704:Akr1b10 UTSW 6 34,371,689 (GRCm39) missense probably damaging 0.98
R3975:Akr1b10 UTSW 6 34,369,431 (GRCm39) critical splice donor site probably null
R4020:Akr1b10 UTSW 6 34,369,388 (GRCm39) missense probably benign 0.42
R4573:Akr1b10 UTSW 6 34,369,064 (GRCm39) missense probably damaging 1.00
R5062:Akr1b10 UTSW 6 34,369,041 (GRCm39) missense probably damaging 1.00
R5540:Akr1b10 UTSW 6 34,371,047 (GRCm39) missense probably damaging 1.00
R6012:Akr1b10 UTSW 6 34,364,715 (GRCm39) missense probably damaging 1.00
R6021:Akr1b10 UTSW 6 34,369,309 (GRCm39) splice site probably null
R6256:Akr1b10 UTSW 6 34,364,623 (GRCm39) missense probably damaging 1.00
R7963:Akr1b10 UTSW 6 34,364,643 (GRCm39) missense possibly damaging 0.93
R8696:Akr1b10 UTSW 6 34,369,067 (GRCm39) missense possibly damaging 0.49
R9049:Akr1b10 UTSW 6 34,373,561 (GRCm39) missense possibly damaging 0.89
R9417:Akr1b10 UTSW 6 34,371,027 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTGTGGTGCTTAGCCTTGATGATG -3'
(R):5'- TGCTTGGGAGTCCAACAGACTTAGA -3'

Sequencing Primer
(F):5'- CCTTGATGATGTCCTGGCAG -3'
(R):5'- atgggaagtagagaggaggg -3'
Posted On 2013-06-11