Incidental Mutation 'IGL03264:Alkbh1'
ID 415005
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alkbh1
Ensembl Gene ENSMUSG00000079036
Gene Name alkB homolog 1, histone H2A dioxygenase
Synonyms Nrp, alkB, Alkbh
Accession Numbers
Essential gene? Probably essential (E-score: 0.817) question?
Stock # IGL03264
Quality Score
Status
Chromosome 12
Chromosomal Location 87474847-87490609 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 87478197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 238 (D238A)
Ref Sequence ENSEMBL: ENSMUSP00000124565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159079] [ENSMUST00000160113] [ENSMUST00000161712] [ENSMUST00000162961] [ENSMUST00000162986] [ENSMUST00000162247]
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 unknown
Transcript: ENSMUST00000160687
AA Change: D121A
SMART Domains Protein: ENSMUSP00000124892
Gene: ENSMUSG00000079036
AA Change: D121A

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 damaging
Transcript: ENSMUST00000162961
AA Change: D238A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124565
Gene: ENSMUSG00000079036
AA Change: D238A

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Pfam:2OG-FeII_Oxy_2 98 344 6.7e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176758
Predicted Effect probably benign
Transcript: ENSMUST00000162986
SMART Domains Protein: ENSMUSP00000125372
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
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T G 17: 31,283,428 (GRCm39) S38A probably benign Het
Arhgef17 A T 7: 100,529,220 (GRCm39) D1531E probably benign Het
Bltp1 A T 3: 37,056,784 (GRCm39) I3152F probably damaging Het
Cacng3 G T 7: 122,271,180 (GRCm39) G62W probably damaging Het
Cdh22 T C 2: 164,958,093 (GRCm39) I625V probably benign Het
Ces5a T C 8: 94,228,898 (GRCm39) N444S possibly damaging Het
Chst13 A T 6: 90,286,193 (GRCm39) Y256* probably null Het
Clcn5 T A X: 7,044,613 (GRCm39) H177L probably benign Het
Dars1 G A 1: 128,341,427 (GRCm39) R63C probably damaging Het
Dcun1d4 A G 5: 73,677,572 (GRCm39) S84G probably benign Het
Dcxr T C 11: 120,617,298 (GRCm39) N82D probably damaging Het
Eef1a2 C A 2: 180,790,527 (GRCm39) K376N possibly damaging Het
Efhc1 G A 1: 21,037,715 (GRCm39) M297I probably benign Het
Etfb G T 7: 43,101,897 (GRCm39) V64F probably damaging Het
Fam135b A C 15: 71,334,637 (GRCm39) N852K probably benign Het
Gigyf2 T C 1: 87,376,790 (GRCm39) probably benign Het
Gria4 T C 9: 4,513,288 (GRCm39) K274E probably benign Het
Irag1 A T 7: 110,525,553 (GRCm39) S200T probably benign Het
Itgae A G 11: 73,006,400 (GRCm39) E356G possibly damaging Het
Med12l C T 3: 59,208,788 (GRCm39) Q2139* probably null Het
Plxna4 A G 6: 32,155,337 (GRCm39) F1536L possibly damaging Het
Pramel19 A T 4: 101,798,329 (GRCm39) Q100L probably damaging Het
Rmnd5a A G 6: 71,370,119 (GRCm39) I389T probably damaging Het
Rnf128 T G X: 138,511,985 (GRCm39) V144G probably damaging Het
Rpgrip1 A G 14: 52,378,109 (GRCm39) T486A possibly damaging Het
Rps6kc1 T C 1: 190,604,026 (GRCm39) T199A probably benign Het
Skint5 T A 4: 113,343,854 (GRCm39) D1338V unknown Het
Slc35g2 A T 9: 100,434,699 (GRCm39) I324K possibly damaging Het
Slc4a5 G A 6: 83,238,507 (GRCm39) R225H probably damaging Het
Srgap3 A T 6: 112,793,636 (GRCm39) H113Q probably damaging Het
Stpg2 A C 3: 139,014,970 (GRCm39) K378N possibly damaging Het
Svep1 A G 4: 58,066,422 (GRCm39) probably benign Het
Utp11 T C 4: 124,573,521 (GRCm39) K218E probably damaging Het
Vmn2r53 T A 7: 12,315,819 (GRCm39) I667F possibly damaging Het
Wdfy3 A G 5: 102,048,016 (GRCm39) L1763P probably damaging Het
Wnt2 A G 6: 17,989,959 (GRCm39) Y313H probably benign Het
Zfp638 T C 6: 83,923,229 (GRCm39) S676P probably benign Het
Zfp747l1 A G 7: 126,984,811 (GRCm39) probably benign 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
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
R5712:Alkbh1 UTSW 12 87,475,883 (GRCm39) missense probably benign 0.05
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
Posted On 2016-08-02