Incidental Mutation 'R0409:Alkbh3'
ID 36500
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 038611-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R0409 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 93810979-93841099 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93831793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 146 (I146F)
Ref Sequence ENSEMBL: ENSMUSP00000038721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040005] [ENSMUST00000111240] [ENSMUST00000126378]
AlphaFold Q8K1E6
Predicted Effect possibly damaging
Transcript: ENSMUST00000040005
AA Change: I146F

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038721
Gene: ENSMUSG00000040174
AA Change: I146F

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 89 275 2e-34 PFAM
Pfam:2OG-FeII_Oxy 172 277 2.1e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111240
AA Change: I147F

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106871
Gene: ENSMUSG00000040174
AA Change: I147F

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 90 276 3.6e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000126378
AA Change: I147F

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122043
Gene: ENSMUSG00000040174
AA Change: I147F

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 90 202 8.9e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127231
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138046
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156763
Meta Mutation Damage Score 0.1146 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.8%
Validation Efficiency 100% (55/55)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik G T 10: 87,061,816 (GRCm39) A89S probably damaging Het
Aox1 A T 1: 58,375,783 (GRCm39) I871F possibly damaging Het
Birc2 A C 9: 7,819,385 (GRCm39) V509G possibly damaging Het
Car7 G A 8: 105,275,056 (GRCm39) A165T probably damaging Het
Ccdc81 A G 7: 89,535,423 (GRCm39) V271A probably benign Het
Cdc40 G T 10: 40,723,164 (GRCm39) H302N probably damaging Het
Cep104 C T 4: 154,067,510 (GRCm39) probably benign Het
Cfap54 C A 10: 92,612,075 (GRCm39) S3161I probably benign Het
Chil5 A G 3: 105,942,282 (GRCm39) probably benign Het
Chil6 C T 3: 106,311,492 (GRCm39) G96D probably benign Het
Cnot1 T C 8: 96,475,483 (GRCm39) K531E probably damaging Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Disp3 T G 4: 148,356,416 (GRCm39) E148A probably damaging Het
Eps8l2 A G 7: 140,922,893 (GRCm39) Y52C probably damaging Het
Exph5 C A 9: 53,285,643 (GRCm39) T908K probably benign Het
Fat4 C T 3: 39,031,562 (GRCm39) S2449F probably damaging Het
Faxc T A 4: 21,948,751 (GRCm39) N154K probably benign Het
Fbxo43 C T 15: 36,162,503 (GRCm39) A235T probably benign Het
Fnip1 A G 11: 54,371,180 (GRCm39) probably null Het
Fsd1l T C 4: 53,679,932 (GRCm39) L210P probably benign Het
Gm6420 A C 1: 23,295,119 (GRCm39) S123R unknown Het
Gm8801 T G 17: 36,258,268 (GRCm39) noncoding transcript Het
Gmfb T C 14: 47,053,679 (GRCm39) I36V probably benign Het
Gsap G A 5: 21,427,443 (GRCm39) probably benign Het
Hectd1 T A 12: 51,829,339 (GRCm39) I969L possibly damaging Het
Il21r G T 7: 125,229,012 (GRCm39) probably benign Het
Lrrc7 A G 3: 157,867,063 (GRCm39) F893L possibly damaging Het
Map2 A G 1: 66,472,739 (GRCm39) I1715V probably damaging Het
Mlh3 A G 12: 85,287,628 (GRCm39) I1339T possibly damaging Het
Nacad T C 11: 6,549,810 (GRCm39) D1127G probably benign Het
Noc3l A G 19: 38,806,371 (GRCm39) probably benign Het
Nup93 A G 8: 95,030,293 (GRCm39) D384G probably damaging Het
Or5m9b T A 2: 85,905,646 (GRCm39) C187* probably null Het
Or5p54 T C 7: 107,554,433 (GRCm39) I195T probably benign Het
Or8b40 C T 9: 38,027,547 (GRCm39) L152F probably benign Het
Pls1 A T 9: 95,668,972 (GRCm39) probably benign Het
Prkcb A T 7: 122,024,200 (GRCm39) H75L probably damaging Het
Rev1 A T 1: 38,113,449 (GRCm39) Y539* probably null Het
Rnf10 A T 5: 115,393,506 (GRCm39) probably benign Het
Rnpepl1 A G 1: 92,843,582 (GRCm39) Y234C probably damaging Het
Sdk2 T C 11: 113,741,717 (GRCm39) probably benign Het
Sec23b T A 2: 144,409,832 (GRCm39) M240K probably benign Het
Sema5a A T 15: 32,681,755 (GRCm39) N945Y probably damaging Het
Snapc4 C A 2: 26,257,228 (GRCm39) R799L probably benign Het
Spata31g1 A C 4: 42,972,203 (GRCm39) K512T probably damaging Het
Tctn3 T C 19: 40,599,860 (GRCm39) probably benign Het
Tex56 A T 13: 35,108,532 (GRCm39) I5L probably benign Het
Tfpt G A 7: 3,623,898 (GRCm39) Q50* probably null Het
Trim80 T C 11: 115,332,039 (GRCm39) V77A probably damaging Het
Trp73 T A 4: 154,148,841 (GRCm39) D256V possibly damaging Het
Utrn G T 10: 12,519,345 (GRCm39) N2202K probably benign Het
Vps13c T A 9: 67,858,926 (GRCm39) F2792Y 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
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
R3109:Alkbh3 UTSW 2 93,835,108 (GRCm39) missense probably damaging 1.00
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'- AGGCCCAGTTCACTGTTTCAGTTTG -3'
(R):5'- TGAGGTCCACTCCCCATAATCTGC -3'

Sequencing Primer
(F):5'- AGTTTGCTCCCATCCTCCAAG -3'
(R):5'- CCCATTTCCTGTCTGAGGAAGG -3'
Posted On 2013-05-09