Incidental Mutation 'R3109:Alkbh3'
ID 263691
Institutional Source Beutler Lab
Gene Symbol Alkbh3
Ensembl Gene ENSMUSG00000040174
Gene Name alkB homolog 3, alpha-ketoglutarate-dependent dioxygenase
Synonyms 1810020C19Rik, Abh3, mABH3, 1700108H04Rik
MMRRC Submission 040583-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R3109 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 93810979-93841099 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93835108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 80 (E80G)
Ref Sequence ENSEMBL: ENSMUSP00000122043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040005] [ENSMUST00000111240] [ENSMUST00000126378]
AlphaFold Q8K1E6
Predicted Effect probably damaging
Transcript: ENSMUST00000040005
AA Change: E79G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038721
Gene: ENSMUSG00000040174
AA Change: E79G

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 89 275 2e-34 PFAM
Pfam:2OG-FeII_Oxy 172 277 2.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111240
AA Change: E80G

PolyPhen 2 Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106871
Gene: ENSMUSG00000040174
AA Change: E80G

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 90 276 3.6e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000126378
AA Change: E80G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122043
Gene: ENSMUSG00000040174
AA Change: E80G

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 90 202 8.9e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127231
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138046
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138107
Meta Mutation Damage Score 0.3114 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (33/33)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 (MIM 610602) and ALKBH3 are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a normal lifespan and are phenotypically indistinguishable from control littermates. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,284,376 (GRCm39) E323G probably damaging Het
Adamts20 T C 15: 94,243,785 (GRCm39) probably benign Het
Amfr T C 8: 94,726,934 (GRCm39) Y93C probably damaging Het
Arid2 T C 15: 96,254,627 (GRCm39) Y158H probably damaging Het
Camk1g T C 1: 193,037,301 (GRCm39) Y133C probably damaging Het
Cnnm1 T C 19: 43,430,000 (GRCm39) C373R probably damaging Het
Cnot1 A G 8: 96,462,377 (GRCm39) V1691A probably damaging Het
Cubn T C 2: 13,367,158 (GRCm39) S1571G possibly damaging Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dennd1b G A 1: 138,969,654 (GRCm39) probably benign Het
Dmrt2 C A 19: 25,655,055 (GRCm39) T218N probably benign Het
Drd4 T A 7: 140,872,195 (GRCm39) V82E possibly damaging Het
Fat1 G A 8: 45,498,210 (GRCm39) probably null Het
Fyn G C 10: 39,427,451 (GRCm39) D445H probably damaging Het
Igfn1 T C 1: 135,925,586 (GRCm39) D56G probably benign Het
Igkv11-125 T C 6: 67,890,855 (GRCm39) F58L possibly damaging Het
Klhdc4 A C 8: 122,548,073 (GRCm39) H72Q probably damaging Het
Kmt2c A G 5: 25,480,733 (GRCm39) Y1459H probably damaging Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Muc5b C T 7: 141,412,496 (GRCm39) T1814M unknown Het
Ntrk3 C T 7: 78,110,263 (GRCm39) V324M probably benign Het
Or52s1b T A 7: 102,822,293 (GRCm39) M184L probably damaging Het
Per2 A T 1: 91,373,297 (GRCm39) C164S probably benign Het
Ptprn2 A G 12: 116,839,800 (GRCm39) D441G probably benign Het
Rbl2 T A 8: 91,828,863 (GRCm39) I588N probably benign Het
Rslcan18 C T 13: 67,246,671 (GRCm39) E314K possibly damaging Het
Ubr3 A T 2: 69,819,184 (GRCm39) T1325S probably damaging Het
Unc45a A G 7: 79,981,294 (GRCm39) probably benign Het
Vmn1r175 A G 7: 23,508,393 (GRCm39) V78A probably benign Het
Other mutations in Alkbh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Alkbh3 APN 2 93,833,396 (GRCm39) critical splice donor site probably null
IGL01940:Alkbh3 APN 2 93,811,940 (GRCm39) missense probably damaging 0.98
IGL02554:Alkbh3 APN 2 93,826,692 (GRCm39) missense probably damaging 1.00
IGL02638:Alkbh3 APN 2 93,838,458 (GRCm39) missense probably benign 0.02
IGL02640:Alkbh3 APN 2 93,826,706 (GRCm39) missense possibly damaging 0.90
R0409:Alkbh3 UTSW 2 93,831,793 (GRCm39) missense possibly damaging 0.84
R0437:Alkbh3 UTSW 2 93,811,914 (GRCm39) missense probably damaging 1.00
R1456:Alkbh3 UTSW 2 93,831,764 (GRCm39) splice site probably null
R1592:Alkbh3 UTSW 2 93,838,769 (GRCm39) splice site probably null
R2359:Alkbh3 UTSW 2 93,838,458 (GRCm39) missense probably benign 0.01
R4297:Alkbh3 UTSW 2 93,838,469 (GRCm39) missense probably benign
R5562:Alkbh3 UTSW 2 93,826,724 (GRCm39) splice site probably null
R6216:Alkbh3 UTSW 2 93,838,881 (GRCm39) start gained probably benign
R7088:Alkbh3 UTSW 2 93,835,097 (GRCm39) missense possibly damaging 0.55
R7711:Alkbh3 UTSW 2 93,838,437 (GRCm39) missense probably benign
R8014:Alkbh3 UTSW 2 93,831,858 (GRCm39) missense probably benign
R8940:Alkbh3 UTSW 2 93,838,391 (GRCm39) missense probably damaging 1.00
R9077:Alkbh3 UTSW 2 93,811,925 (GRCm39) missense probably damaging 0.97
R9158:Alkbh3 UTSW 2 93,835,082 (GRCm39) missense probably damaging 1.00
R9297:Alkbh3 UTSW 2 93,835,082 (GRCm39) missense probably damaging 1.00
R9712:Alkbh3 UTSW 2 93,811,318 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCCGTGTAACTGGTGGAAG -3'
(R):5'- GTTTCATGGCCTGAACCTGTC -3'

Sequencing Primer
(F):5'- GGAAGCTGTGAAAATATTTTGATGC -3'
(R):5'- TGTTCCCAGCGCCATTGAG -3'
Posted On 2015-02-05