Incidental Mutation 'R5712:Alkbh1'
ID 450967
Institutional Source Beutler Lab
Gene Symbol Alkbh1
Ensembl Gene ENSMUSG00000079036
Gene Name alkB homolog 1, histone H2A dioxygenase
Synonyms Nrp, alkB, Alkbh
MMRRC Submission 043334-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.817) question?
Stock # R5712 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 87474847-87490609 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87475883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 300 (C300R)
Ref Sequence ENSEMBL: ENSMUSP00000124565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159079] [ENSMUST00000160113] [ENSMUST00000161712] [ENSMUST00000162247] [ENSMUST00000162961] [ENSMUST00000162986]
AlphaFold P0CB42
Predicted Effect probably benign
Transcript: ENSMUST00000159079
SMART Domains Protein: ENSMUSP00000124445
Gene: ENSMUSG00000079036

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160113
SMART Domains Protein: ENSMUSP00000124691
Gene: ENSMUSG00000079036

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160687
SMART Domains Protein: ENSMUSP00000124892
Gene: ENSMUSG00000079036

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 1 180 3.4e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160919
Predicted Effect probably benign
Transcript: ENSMUST00000161712
SMART Domains Protein: ENSMUSP00000124933
Gene: ENSMUSG00000079036

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162247
SMART Domains Protein: ENSMUSP00000124360
Gene: ENSMUSG00000079036

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176758
Predicted Effect probably benign
Transcript: ENSMUST00000162961
AA Change: C300R

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000124565
Gene: ENSMUSG00000079036
AA Change: C300R

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Pfam:2OG-FeII_Oxy_2 98 344 6.7e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162986
SMART Domains Protein: ENSMUSP00000125372
Gene: ENSMUSG00000079036

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show delayed fetal growth, impaired placental development and low birth weight. Mice homozygous for another null allele show sex-ratio distortion, reduced survival, spermatogenic defects and incompletely penetrant eye, neural tube, skeleton and craniofacial defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,981,563 (GRCm39) T133A probably benign Het
Adcy8 C T 15: 64,626,715 (GRCm39) E708K probably damaging Het
Arhgap11a T C 2: 113,675,646 (GRCm39) N52D probably benign Het
Ash1l T A 3: 88,959,297 (GRCm39) S2225T probably damaging Het
Aspn A T 13: 49,716,995 (GRCm39) Y257F probably damaging Het
Atp2b4 A C 1: 133,658,278 (GRCm39) V544G probably damaging Het
Bclaf1 T G 10: 20,209,277 (GRCm39) Y498D probably damaging Het
Cacna1d A G 14: 29,796,954 (GRCm39) I1520T probably damaging Het
Castor1 T C 11: 4,168,378 (GRCm39) L22P probably damaging Het
Cfap57 G T 4: 118,471,992 (GRCm39) P129Q probably damaging Het
Clcn3 A G 8: 61,390,332 (GRCm39) probably null Het
Epx A T 11: 87,765,679 (GRCm39) Y93* probably null Het
Erich6b T A 14: 75,896,340 (GRCm39) D75E possibly damaging Het
Exoc3l4 T A 12: 111,390,476 (GRCm39) Y350* probably null Het
Fam13a T A 6: 58,933,684 (GRCm39) D302V probably damaging Het
Fbxo17 G A 7: 28,436,897 (GRCm39) R284H probably damaging Het
Fga C T 3: 82,940,440 (GRCm39) T698I possibly damaging Het
Fsip2 T C 2: 82,839,192 (GRCm39) S6987P possibly damaging Het
Gbp9 T A 5: 105,242,421 (GRCm39) N106I possibly damaging Het
Gls T A 1: 52,235,911 (GRCm39) K401N probably damaging Het
Gpatch2l A G 12: 86,291,254 (GRCm39) K146E probably damaging Het
Gpr3 A G 4: 132,937,719 (GRCm39) S318P probably benign Het
Kbtbd7 T C 14: 79,666,205 (GRCm39) V679A possibly damaging Het
Kcnu1 T A 8: 26,409,678 (GRCm39) L127H probably damaging Het
Lck G T 4: 129,450,103 (GRCm39) H214Q probably benign Het
Lrch4 A C 5: 137,636,188 (GRCm39) S380R possibly damaging Het
Lrrk2 A T 15: 91,586,425 (GRCm39) K414* probably null Het
Maco1 A T 4: 134,555,369 (GRCm39) M368K probably benign Het
Med11 A G 11: 70,344,058 (GRCm39) E126G probably damaging Het
Mknk1 A G 4: 115,712,203 (GRCm39) probably null Het
Mst1 T C 9: 107,960,107 (GRCm39) C355R probably damaging Het
Mtcl2 T A 2: 156,872,841 (GRCm39) E890V probably damaging Het
Myl10 T C 5: 136,723,092 (GRCm39) F14L probably damaging Het
Nfrkb C T 9: 31,325,932 (GRCm39) T1125M probably benign Het
Nin T C 12: 70,089,543 (GRCm39) T1291A probably damaging Het
Pcnt T C 10: 76,265,105 (GRCm39) Q335R probably damaging Het
Phc2 A G 4: 128,638,888 (GRCm39) T83A probably damaging Het
Rdh19 T A 10: 127,692,756 (GRCm39) M141K probably benign Het
Rnf17 G A 14: 56,708,856 (GRCm39) V759I probably benign Het
Sirt7 A T 11: 120,511,677 (GRCm39) Y18* probably null Het
Slc27a5 T C 7: 12,732,010 (GRCm39) probably benign Het
Synpo2 T A 3: 122,914,859 (GRCm39) I56F probably damaging Het
Tdrd6 C A 17: 43,937,299 (GRCm39) G1250C probably damaging Het
Tmem190 G A 7: 4,787,288 (GRCm39) G164D probably damaging Het
Tmigd1 T C 11: 76,797,858 (GRCm39) Y67H probably damaging Het
Trim3 T A 7: 105,268,743 (GRCm39) E70D probably damaging Het
Uap1 A G 1: 169,994,414 (GRCm39) F21L possibly damaging Het
Vmn1r176 A T 7: 23,534,925 (GRCm39) V76D probably benign Het
Vps13d A C 4: 144,813,743 (GRCm39) S3245A probably benign Het
Wnt7a T C 6: 91,343,186 (GRCm39) Y232C probably damaging Het
Zan A G 5: 137,398,360 (GRCm39) V4224A unknown Het
Other mutations in Alkbh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Alkbh1 APN 12 87,490,467 (GRCm39) missense probably damaging 1.00
IGL03111:Alkbh1 APN 12 87,480,907 (GRCm39) missense probably damaging 1.00
IGL03264:Alkbh1 APN 12 87,478,197 (GRCm39) missense probably damaging 1.00
R1439:Alkbh1 UTSW 12 87,475,915 (GRCm39) missense probably damaging 1.00
R2056:Alkbh1 UTSW 12 87,490,520 (GRCm39) unclassified probably benign
R2058:Alkbh1 UTSW 12 87,490,520 (GRCm39) unclassified probably benign
R2059:Alkbh1 UTSW 12 87,490,520 (GRCm39) unclassified probably benign
R4565:Alkbh1 UTSW 12 87,478,236 (GRCm39) missense probably damaging 1.00
R6291:Alkbh1 UTSW 12 87,475,864 (GRCm39) missense possibly damaging 0.67
R7593:Alkbh1 UTSW 12 87,487,095 (GRCm39) nonsense probably null
R7776:Alkbh1 UTSW 12 87,478,215 (GRCm39) missense probably damaging 1.00
R8542:Alkbh1 UTSW 12 87,478,275 (GRCm39) missense probably damaging 1.00
R8723:Alkbh1 UTSW 12 87,485,278 (GRCm39) missense probably benign 0.10
R9363:Alkbh1 UTSW 12 87,487,080 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACCATCTGCAGCAATGTCTC -3'
(R):5'- GGCAGTGTACTTTCACTAATGTAAC -3'

Sequencing Primer
(F):5'- CTCTTCCACGGGTTCTAAAGGAAAG -3'
(R):5'- AACACAAACCTCTCTCTTTTGTAG -3'
Posted On 2017-01-03