Incidental Mutation 'R9077:Alkbh3'
ID 689834
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 068898-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R9077 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 93810979-93841099 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93811925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 235 (V235A)
Ref Sequence ENSEMBL: ENSMUSP00000038721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040005] [ENSMUST00000111240]
AlphaFold Q8K1E6
Predicted Effect probably damaging
Transcript: ENSMUST00000040005
AA Change: V235A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038721
Gene: ENSMUSG00000040174
AA Change: V235A

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: V236A

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106871
Gene: ENSMUSG00000040174
AA Change: V236A

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 90 276 3.6e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183110
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.5%
Validation Efficiency 100% (48/48)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 A G 7: 139,567,552 (GRCm39) V397A probably benign Het
Arfgef2 A G 2: 166,706,721 (GRCm39) I982V probably damaging Het
Arfgef3 T C 10: 18,500,899 (GRCm39) D1117G possibly damaging Het
Arhgap31 G T 16: 38,422,730 (GRCm39) A1112D probably damaging Het
Arhgef4 T C 1: 34,760,824 (GRCm39) C27R unknown Het
Bzw1 T A 1: 58,438,190 (GRCm39) M90K probably benign Het
Cdk17 T C 10: 93,068,277 (GRCm39) Y345H probably damaging Het
Cip2a A G 16: 48,827,511 (GRCm39) I459V probably benign Het
Cog8 C T 8: 107,779,208 (GRCm39) M356I probably damaging Het
Ctsw T C 19: 5,516,431 (GRCm39) D173G probably benign Het
Dnah6 A T 6: 73,121,029 (GRCm39) C1488* probably null Het
Dnah7a T C 1: 53,741,218 (GRCm39) K13E unknown Het
Eif3f A G 7: 108,539,425 (GRCm39) M232V probably benign Het
Gk5 C A 9: 96,001,634 (GRCm39) T44K probably benign Het
Glrb A G 3: 80,763,217 (GRCm39) F260S probably damaging Het
Glyctk C A 9: 106,032,522 (GRCm39) R497L probably benign Het
Gm10153 G T 7: 141,743,383 (GRCm39) C248* probably null Het
Hand2 A G 8: 57,776,836 (GRCm39) K199E probably damaging Het
Heatr1 T A 13: 12,428,247 (GRCm39) C795S probably benign Het
Il31ra T C 13: 112,670,361 (GRCm39) I342M probably benign Het
Itm2b G T 14: 73,605,865 (GRCm39) D40E probably benign Het
Ksr1 T C 11: 78,927,552 (GRCm39) T371A probably damaging Het
Lctl C A 9: 64,039,241 (GRCm39) probably benign Het
Lpin1 G A 12: 16,591,747 (GRCm39) P827S Het
Lyst T C 13: 13,857,693 (GRCm39) I2494T probably benign Het
Mia2 A G 12: 59,226,760 (GRCm39) N510S possibly damaging Het
Mycbp2 T C 14: 103,469,974 (GRCm39) D1308G probably damaging Het
Naip2 C T 13: 100,291,459 (GRCm39) D1160N probably benign Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Omt2b T C 9: 78,235,548 (GRCm39) probably null Het
Or2j6 G A 7: 139,980,809 (GRCm39) P50L probably benign Het
Or56b1 C T 7: 104,285,291 (GRCm39) R137C probably benign Het
Or56b1 A G 7: 104,285,618 (GRCm39) T246A probably damaging Het
Pan2 A G 10: 128,148,856 (GRCm39) Y490C probably damaging Het
Pard6g A G 18: 80,160,772 (GRCm39) E295G probably damaging Het
Pcdhb8 T C 18: 37,489,414 (GRCm39) V23A probably damaging Het
Phactr3 A T 2: 177,974,758 (GRCm39) probably benign Het
Pip G A 6: 41,828,388 (GRCm39) S74N probably damaging Het
Plau G A 14: 20,889,949 (GRCm39) E265K probably benign Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Rcor3 C T 1: 191,807,865 (GRCm39) D230N probably damaging Het
Siglec15 A G 18: 78,091,983 (GRCm39) Y73H possibly damaging Het
Spag16 T A 1: 70,532,930 (GRCm39) probably benign Het
Spta1 G T 1: 174,045,170 (GRCm39) D1506Y probably damaging Het
Tacr3 A T 3: 134,635,711 (GRCm39) Y305F probably benign Het
Tcstv7a T C 13: 120,289,885 (GRCm39) M104V probably benign Het
Vmn1r83 G A 7: 12,055,571 (GRCm39) T162M probably damaging Het
Vmn2r116 G T 17: 23,604,956 (GRCm39) D90Y probably benign Het
Wdr76 A G 2: 121,364,608 (GRCm39) N304S probably benign Het
Wee1 G A 7: 109,725,963 (GRCm39) V358I probably damaging Het
Zan G A 5: 137,401,468 (GRCm39) P4084S unknown 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
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
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'- CGCTACCTGCTCAGTATAAGC -3'
(R):5'- ACAGTTCCTCCTGTTGCCAG -3'

Sequencing Primer
(F):5'- ACCTGCTCAGTATAAGCACTTG -3'
(R):5'- CATTTGAGACACAGATTAGCCCTGG -3'
Posted On 2021-11-19