Incidental Mutation 'R6902:Alkbh5'
ID538607
Institutional Source Beutler Lab
Gene Symbol Alkbh5
Ensembl Gene ENSMUSG00000042650
Gene NamealkB homolog 5, RNA demethylase
SynonymsAbh5, Ofoxd
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.223) question?
Stock #R6902 (G1)
Quality Score146.008
Status Validated
Chromosome11
Chromosomal Location60536381-60558512 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 60538555 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 45 (A45T)
Ref Sequence ENSEMBL: ENSMUSP00000049116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044250]
Predicted Effect probably benign
Transcript: ENSMUST00000044250
AA Change: A45T

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000049116
Gene: ENSMUSG00000042650
AA Change: A45T

DomainStartEndE-ValueType
SCOP:d1gkub1 25 68 7e-5 SMART
Pfam:2OG-FeII_Oxy_2 94 313 1.7e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.6%
Validation Efficiency 98% (50/51)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced male fertility associated with oligo- and teratozoopermia and male germ cell apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik C G 13: 119,488,144 probably benign Het
9530053A07Rik C T 7: 28,137,213 R186C probably damaging Het
Abcc9 T A 6: 142,679,227 S481C probably damaging Het
Adgrl3 C A 5: 81,689,587 S773R probably damaging Het
Ankrd6 C A 4: 32,806,419 Q576H probably damaging Het
Ankrd6 T A 4: 32,806,420 Q576L probably damaging Het
Carmil1 T C 13: 24,115,545 N332S possibly damaging Het
Cc2d2b A G 19: 40,816,289 Q1250R possibly damaging Het
Chd9 A C 8: 91,042,951 N2539T probably damaging Het
Clec4b2 C T 6: 123,201,028 Q101* probably null Het
Clstn2 A T 9: 97,469,822 F517I probably damaging Het
Cog2 A G 8: 124,546,691 K590E probably damaging Het
Coq9 G A 8: 94,850,552 E182K probably benign Het
Focad C T 4: 88,230,476 R477C unknown Het
Gja10 G T 4: 32,601,905 H160N probably damaging Het
Gm1673 G A 5: 33,983,579 probably benign Het
Gpr132 T A 12: 112,852,210 Y332F probably benign Het
Herc2 A G 7: 56,135,486 T1495A probably benign Het
Hivep3 T A 4: 120,095,995 S503T possibly damaging Het
Ifi44 A T 3: 151,745,899 I190N possibly damaging Het
Igf1r T A 7: 68,004,163 C150S probably damaging Het
Ighv1-42 T A 12: 114,937,535 N4Y possibly damaging Het
Klra9 T A 6: 130,179,040 I251F probably benign Het
Krt79 T C 15: 101,931,879 N294S probably benign Het
Lama2 T G 10: 26,981,629 T3075P probably damaging Het
Lrfn1 T G 7: 28,459,813 C386G probably benign Het
Lrp2 T C 2: 69,459,503 D3664G probably damaging Het
Mfsd3 T A 15: 76,703,149 M344K probably damaging Het
Mier2 C A 10: 79,540,839 probably benign Het
Mmp2 G A 8: 92,836,917 V340M probably damaging Het
Mrgprb3 T A 7: 48,643,699 I35F probably benign Het
Myo5b A T 18: 74,676,685 I613F possibly damaging Het
Olfr299 T A 7: 86,465,787 C125* probably null Het
Olfr585 A T 7: 103,098,355 I205F probably benign Het
Olfr867 A T 9: 20,055,374 L30M possibly damaging Het
Olfr948 C A 9: 39,319,019 L198F probably damaging Het
Pan2 A G 10: 128,315,637 T867A probably benign Het
Papolb T A 5: 142,528,151 H579L probably benign Het
Pcf11 C A 7: 92,658,299 G887V probably damaging Het
Pdzd8 A G 19: 59,301,397 S524P possibly damaging Het
Pole3 T C 4: 62,524,063 probably benign Het
Prdm14 C T 1: 13,122,421 V365I probably benign Het
Shank1 T A 7: 44,356,815 F1985L probably benign Het
Slc13a1 T C 6: 24,097,666 I421V possibly damaging Het
Slc2a6 C T 2: 27,023,160 V374M probably benign Het
Spata1 A T 3: 146,475,323 N293K possibly damaging Het
Stk40 T A 4: 126,137,812 D366E probably benign Het
Tas2r117 T C 6: 132,803,325 L142S probably damaging Het
Tcrg-V1 T C 13: 19,340,020 L2P probably benign Het
Tomm70a T C 16: 57,138,081 S266P probably damaging Het
Vipr2 A T 12: 116,139,199 T310S possibly damaging Het
Vti1a A T 19: 55,499,241 probably null Het
Zfp961 A G 8: 71,968,678 K345R probably damaging Het
Other mutations in Alkbh5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0346:Alkbh5 UTSW 11 60538741 missense possibly damaging 0.50
R1464:Alkbh5 UTSW 11 60539047 missense probably benign 0.38
R1464:Alkbh5 UTSW 11 60539047 missense probably benign 0.38
R2020:Alkbh5 UTSW 11 60538549 missense probably benign 0.03
R4824:Alkbh5 UTSW 11 60553871 critical splice donor site probably null
R5367:Alkbh5 UTSW 11 60538703 missense possibly damaging 0.58
R5979:Alkbh5 UTSW 11 60538691 missense probably damaging 1.00
R6132:Alkbh5 UTSW 11 60537995 start gained probably benign
R7516:Alkbh5 UTSW 11 60539153 missense probably damaging 1.00
R7554:Alkbh5 UTSW 11 60538589 missense probably benign 0.00
R7758:Alkbh5 UTSW 11 60539077 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGCTTTAAAGTGCGGGC -3'
(R):5'- ACTCATCCTGACTGAAGAGCCG -3'

Sequencing Primer
(F):5'- TTTTTCCCTCAGGACGCGGAG -3'
(R):5'- CTGACTGAAGAGCCGGATCTG -3'
Posted On2018-11-06