Incidental Mutation 'IGL03111:Alkbh1'
ID 419185
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 # IGL03111
Quality Score
Status
Chromosome 12
Chromosomal Location 87474847-87490609 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 87480907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 176 (H176Q)
Ref Sequence ENSEMBL: ENSMUSP00000124565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159079] [ENSMUST00000160113] [ENSMUST00000161712] [ENSMUST00000162247] [ENSMUST00000162961] [ENSMUST00000162986]
AlphaFold P0CB42
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083004
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: H78Q
SMART Domains Protein: ENSMUSP00000124892
Gene: ENSMUSG00000079036
AA Change: H78Q

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: ENSMUST00000162247
AA Change: H176Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124360
Gene: ENSMUSG00000079036
AA Change: H176Q

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162961
AA Change: H176Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124565
Gene: ENSMUSG00000079036
AA Change: H176Q

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: ENSMUST00000187898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197755
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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aftph T C 11: 20,676,040 (GRCm39) D523G probably benign Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arid4a G A 12: 71,086,740 (GRCm39) A193T probably damaging Het
Cdkal1 A G 13: 29,538,684 (GRCm39) S492P possibly damaging Het
Cep170b C T 12: 112,701,613 (GRCm39) T164I probably damaging Het
Chst1 T C 2: 92,443,692 (GRCm39) Y55H possibly damaging Het
Clybl C T 14: 122,639,395 (GRCm39) P320S probably damaging Het
Cpne9 T C 6: 113,277,571 (GRCm39) I430T possibly damaging Het
Cyc1 T G 15: 76,229,072 (GRCm39) S113A probably benign Het
Cyp4b1 C T 4: 115,493,066 (GRCm39) probably benign Het
Dpysl3 T C 18: 43,462,910 (GRCm39) D489G probably damaging Het
Epha3 T C 16: 63,473,809 (GRCm39) D15G probably damaging Het
Ephb4 C A 5: 137,370,767 (GRCm39) F933L probably benign Het
Fan1 A T 7: 63,999,816 (GRCm39) D856E possibly damaging Het
Gabra6 T A 11: 42,207,844 (GRCm39) D208V probably damaging Het
Kif3b T A 2: 153,171,988 (GRCm39) S719R probably benign Het
Ldhd A C 8: 112,353,797 (GRCm39) C439G probably damaging Het
Lipo3 C T 19: 33,559,637 (GRCm39) V78I probably damaging Het
Mterf2 A T 10: 84,955,786 (GRCm39) Y279* probably null Het
Myo9a G T 9: 59,734,526 (GRCm39) A703S probably benign Het
Ndst3 T A 3: 123,465,745 (GRCm39) T76S possibly damaging Het
Nlrp4f A T 13: 65,330,816 (GRCm39) L859Q probably damaging Het
Nlrp4g T A 9: 124,353,978 (GRCm38) noncoding transcript Het
Or1s2 T A 19: 13,758,343 (GRCm39) Y122* probably null Het
Or51g2 G A 7: 102,622,738 (GRCm39) R154C probably damaging Het
Or6c215 G A 10: 129,637,947 (GRCm39) T149I probably benign Het
Osgin1 A T 8: 120,169,788 (GRCm39) K113M probably damaging Het
Plcb4 T A 2: 135,818,202 (GRCm39) Y823N probably damaging Het
Prg4 T C 1: 150,327,653 (GRCm39) I856V probably benign Het
Pxdn T A 12: 30,032,755 (GRCm39) S180T probably damaging Het
Skint9 T A 4: 112,248,921 (GRCm39) N169I probably benign Het
Slc24a1 T C 9: 64,833,608 (GRCm39) T996A probably damaging Het
Tbc1d20 T C 2: 152,149,998 (GRCm39) Y91H probably damaging Het
Tbc1d9b A G 11: 50,049,369 (GRCm39) Y772C probably damaging Het
Thbd T A 2: 148,248,392 (GRCm39) E492V probably benign Het
Thra A G 11: 98,651,855 (GRCm39) probably benign Het
Tmem131 A G 1: 36,867,225 (GRCm39) S403P probably damaging Het
Zfp455 T C 13: 67,356,063 (GRCm39) S444P probably benign Het
Zfp946 A G 17: 22,673,537 (GRCm39) H97R possibly damaging Het
Other mutations in Alkbh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Alkbh1 APN 12 87,490,467 (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
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