Incidental Mutation 'IGL01940:Alkbh3'
ID180831
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alkbh3
Ensembl Gene ENSMUSG00000040174
Gene NamealkB homolog 3, alpha-ketoglutarate-dependent dioxygenase
SynonymsmABH3, 1700108H04Rik, 1810020C19Rik, Abh3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.200) question?
Stock #IGL01940
Quality Score
Status
Chromosome2
Chromosomal Location93980550-94010807 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 93981595 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 231 (T231I)
Ref Sequence ENSEMBL: ENSMUSP00000106871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040005] [ENSMUST00000111240]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000028621
Predicted Effect possibly damaging
Transcript: ENSMUST00000040005
AA Change: T230I

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038721
Gene: ENSMUSG00000040174
AA Change: T230I

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 damaging
Transcript: ENSMUST00000111240
AA Change: T231I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106871
Gene: ENSMUSG00000040174
AA Change: T231I

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 90 276 3.6e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136886
Predicted Effect probably benign
Transcript: ENSMUST00000183110
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,567,661 probably benign Het
Ahnak A T 19: 9,006,557 D1735V probably benign Het
Ap4e1 T C 2: 127,043,511 V344A probably damaging Het
Brip1 T A 11: 86,064,966 D907V probably benign Het
Clca3a1 A T 3: 144,746,976 M582K probably benign Het
Csf2 G T 11: 54,249,525 P29H probably damaging Het
Cyp2d26 C T 15: 82,792,557 R196H probably benign Het
Dagla A G 19: 10,252,171 V575A probably benign Het
Dimt1 T A 13: 106,948,698 probably benign Het
Ei24 A T 9: 36,782,391 F288L probably damaging Het
Fam107a T C 14: 8,298,766 H120R probably benign Het
Fancl G T 11: 26,459,752 V203F probably damaging Het
Fgd6 T A 10: 94,089,650 probably null Het
Flrt2 A G 12: 95,780,238 Y450C probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Ift122 A G 6: 115,887,371 probably benign Het
Kcnk13 A G 12: 100,061,424 S253G probably benign Het
Lcp1 A T 14: 75,216,365 N469I probably benign Het
Lrrc24 T C 15: 76,716,057 Y294C probably damaging Het
Odam C A 5: 87,887,333 S52Y possibly damaging Het
Olfr1243 T A 2: 89,527,810 N200I probably damaging Het
Olfr128 C T 17: 37,924,286 T240I probably damaging Het
Olfr641 A G 7: 104,039,922 N42S probably damaging Het
Pkd1 G T 17: 24,579,746 R2676L possibly damaging Het
Plec T C 15: 76,180,329 D1915G probably damaging Het
Ptbp2 A G 3: 119,726,115 V9A possibly damaging Het
Ptk2b A G 14: 66,158,613 I802T probably benign Het
Rabgap1 G T 2: 37,487,067 A304S probably damaging Het
Sema3f T C 9: 107,683,697 probably benign Het
Serpinb3a A T 1: 107,046,185 V332E probably damaging Het
Skil T A 3: 31,111,644 M370K probably benign Het
Slc25a1 T A 16: 17,926,440 Y209F probably benign Het
Smim15 A G 13: 108,047,630 K57E probably damaging Het
Taar3 T A 10: 23,949,957 C134S probably damaging Het
Tns4 C T 11: 99,068,221 S684N probably benign Het
Vmn2r58 A G 7: 41,837,647 V608A probably benign Het
Zbtb26 A T 2: 37,435,975 C350S possibly damaging Het
Other mutations in Alkbh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Alkbh3 APN 2 94003051 critical splice donor site probably null
IGL02554:Alkbh3 APN 2 93996347 missense probably damaging 1.00
IGL02638:Alkbh3 APN 2 94008113 missense probably benign 0.02
IGL02640:Alkbh3 APN 2 93996361 missense possibly damaging 0.90
R0409:Alkbh3 UTSW 2 94001448 missense possibly damaging 0.84
R0437:Alkbh3 UTSW 2 93981569 missense probably damaging 1.00
R1456:Alkbh3 UTSW 2 94001419 splice site probably null
R1592:Alkbh3 UTSW 2 94008424 intron probably null
R2359:Alkbh3 UTSW 2 94008113 missense probably benign 0.01
R3109:Alkbh3 UTSW 2 94004763 missense probably damaging 1.00
R4297:Alkbh3 UTSW 2 94008124 missense probably benign
R5562:Alkbh3 UTSW 2 93996379 unclassified probably null
R6216:Alkbh3 UTSW 2 94008536 start gained probably benign
R7088:Alkbh3 UTSW 2 94004752 missense possibly damaging 0.55
R7711:Alkbh3 UTSW 2 94008092 missense probably benign
R8014:Alkbh3 UTSW 2 94001513 missense probably benign
Posted On2014-05-07