Incidental Mutation 'R9158:Alkbh3'
ID 695491
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 068942-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R9158 (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 93835082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 88 (S88P)
Ref Sequence ENSEMBL: ENSMUSP00000038721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040005] [ENSMUST00000111240] [ENSMUST00000126378]
AlphaFold Q8K1E6
Predicted Effect probably damaging
Transcript: ENSMUST00000040005
AA Change: S88P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038721
Gene: ENSMUSG00000040174
AA Change: S88P

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: S89P

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106871
Gene: ENSMUSG00000040174
AA Change: S89P

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 90 276 3.6e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126378
AA Change: S89P

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000122043
Gene: ENSMUSG00000040174
AA Change: S89P

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 90 202 8.9e-14 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G A 8: 41,208,645 (GRCm39) C637Y probably damaging Het
Ahdc1 A G 4: 132,792,505 (GRCm39) T1249A possibly damaging Het
Ankrd17 C A 5: 90,416,575 (GRCm39) A1086S probably damaging Het
Ankzf1 T A 1: 75,173,020 (GRCm39) V372E probably damaging Het
Apbb1ip T C 2: 22,764,951 (GRCm39) V544A probably benign Het
Atp13a2 T C 4: 140,724,112 (GRCm39) probably null Het
Cacna2d1 A G 5: 16,140,039 (GRCm39) T10A probably benign Het
Cadps T C 14: 12,546,356 (GRCm38) N500S probably benign Het
Casp16 A G 17: 23,769,948 (GRCm39) probably benign Het
Cdh22 T A 2: 165,012,627 (GRCm39) I153F probably damaging Het
Clip2 T C 5: 134,521,251 (GRCm39) E964G probably benign Het
Cracdl A T 1: 37,670,442 (GRCm39) M166K probably damaging Het
Cryga T C 1: 65,142,198 (GRCm39) D65G probably benign Het
Dap3 A G 3: 88,832,637 (GRCm39) Y357H probably damaging Het
Eef2 C T 10: 81,014,693 (GRCm39) probably benign Het
Gja4 A G 4: 127,206,466 (GRCm39) L99P probably damaging Het
Glb1l3 A T 9: 26,765,005 (GRCm39) Y135* probably null Het
Gm5114 T G 7: 39,060,486 (GRCm39) D121A probably damaging Het
Gm6525 A G 3: 84,082,255 (GRCm39) K59E probably benign Het
Herc1 C T 9: 66,376,400 (GRCm39) L3407F probably benign Het
Hmgcr G A 13: 96,792,170 (GRCm39) R589* probably null Het
Iglv3 A C 16: 19,060,012 (GRCm39) D105E probably damaging Het
Il1r1 G A 1: 40,332,391 (GRCm39) W60* probably null Het
Il31ra C T 13: 112,670,394 (GRCm39) W331* probably null Het
Inca1 C T 11: 70,581,376 (GRCm39) C16Y probably damaging Het
Inpp4a A G 1: 37,442,552 (GRCm39) T628A possibly damaging Het
Kdm2a C G 19: 4,374,715 (GRCm39) R805S possibly damaging Het
Kel T A 6: 41,664,905 (GRCm39) I620L probably benign Het
Kmt2d C T 15: 98,741,020 (GRCm39) G4638R unknown Het
Lilrb4b T A 10: 51,357,829 (GRCm39) N174K possibly damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Ltf T A 9: 110,868,003 (GRCm39) V615E probably damaging Het
Map7d1 G T 4: 126,130,478 (GRCm39) Q443K possibly damaging Het
Mapk9 A G 11: 49,745,095 (GRCm39) D3G probably benign Het
Nktr T G 9: 121,582,154 (GRCm39) S1424A unknown Het
Npas1 A G 7: 16,195,333 (GRCm39) S332P possibly damaging Het
Or13a25 T C 7: 140,247,547 (GRCm39) S109P possibly damaging Het
Or52n2c T C 7: 104,574,086 (GRCm39) Y295C probably damaging Het
Or5ak4 A G 2: 85,161,348 (GRCm39) I298T probably benign Het
Or6d12 T C 6: 116,492,791 (GRCm39) F18L possibly damaging Het
Or8b12b C A 9: 37,684,800 (GRCm39) P282T probably damaging Het
Pcdh8 A G 14: 80,005,182 (GRCm39) W948R probably damaging Het
Pde3a A G 6: 141,195,614 (GRCm39) E100G probably benign Het
Phrf1 T A 7: 140,836,466 (GRCm39) V246D unknown Het
Pitpnb A T 5: 111,530,876 (GRCm39) N223I probably damaging Het
Pkd1l3 A T 8: 110,394,207 (GRCm39) R2065* probably null Het
Prepl T C 17: 85,383,379 (GRCm39) D355G possibly damaging Het
Runx2 A G 17: 45,046,508 (GRCm39) V5A probably benign Het
Sema4g T A 19: 44,986,846 (GRCm39) V433D possibly damaging Het
Sema6a C T 18: 47,431,330 (GRCm39) V123I probably damaging Het
Senp6 A G 9: 79,994,732 (GRCm39) K24E probably benign Het
Slc22a8 T A 19: 8,583,427 (GRCm39) S211T probably damaging Het
Slc34a2 A G 5: 53,221,217 (GRCm39) D221G possibly damaging Het
Tmprss11g A T 5: 86,637,166 (GRCm39) L323Q probably damaging Het
Tpcn1 T C 5: 120,687,988 (GRCm39) probably benign Het
Trim65 G A 11: 116,018,050 (GRCm39) T311I probably benign Het
Tub T C 7: 108,625,962 (GRCm39) F284L possibly damaging Het
Ube2j1 G A 4: 33,036,711 (GRCm39) V12I probably benign Het
Vmn2r101 A T 17: 19,809,161 (GRCm39) N97Y probably benign Het
Vmn2r49 C A 7: 9,722,835 (GRCm39) W146C probably damaging Het
Zfp628 T C 7: 4,922,153 (GRCm39) L125P probably damaging 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
R9077:Alkbh3 UTSW 2 93,811,925 (GRCm39) missense probably damaging 0.97
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'- TGACACTGCAGTCACAACAG -3'
(R):5'- ACCTGTCAGGGTTCTGTTCC -3'

Sequencing Primer
(F):5'- GTCACAACAGTCCGTGTAACTGG -3'
(R):5'- CGCCATTGAGGATGCACTAC -3'
Posted On 2022-01-20