Incidental Mutation 'IGL00236:Alkbh1'
ID 2183
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alkbh1
Ensembl Gene ENSMUSG00000079036
Gene Name alkB homolog 1, histone H2A dioxygenase
Synonyms alkB, Nrp, Alkbh
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.859) question?
Stock # IGL00236
Quality Score
Status
Chromosome 12
Chromosomal Location 87425840-87444017 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87443697 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 43 (V43A)
Ref Sequence ENSEMBL: ENSMUSP00000124565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077462] [ENSMUST00000159079] [ENSMUST00000160113] [ENSMUST00000160488] [ENSMUST00000161023] [ENSMUST00000161712] [ENSMUST00000162247] [ENSMUST00000162961] [ENSMUST00000162986] [ENSMUST00000185301]
AlphaFold P0CB42
Predicted Effect probably benign
Transcript: ENSMUST00000077462
SMART Domains Protein: ENSMUSP00000076673
Gene: ENSMUSG00000021040

DomainStartEndE-ValueType
RRM 18 82 1.08e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000091090
SMART Domains Protein: ENSMUSP00000088619
Gene: ENSMUSG00000021041

DomainStartEndE-ValueType
low complexity region 54 66 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000159079
AA Change: V43A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124445
Gene: ENSMUSG00000079036
AA Change: V43A

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000160113
AA Change: V43A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124691
Gene: ENSMUSG00000079036
AA Change: V43A

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160488
SMART Domains Protein: ENSMUSP00000124174
Gene: ENSMUSG00000021040

DomainStartEndE-ValueType
RRM 20 92 2.41e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160850
Predicted Effect probably benign
Transcript: ENSMUST00000160880
SMART Domains Protein: ENSMUSP00000125727
Gene: ENSMUSG00000021040

DomainStartEndE-ValueType
Blast:RRM 15 47 6e-17 BLAST
SCOP:d1u2fa_ 17 59 2e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160919
Predicted Effect probably benign
Transcript: ENSMUST00000161023
SMART Domains Protein: ENSMUSP00000125341
Gene: ENSMUSG00000021040

DomainStartEndE-ValueType
RRM 20 92 1.73e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000161712
AA Change: V43A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124933
Gene: ENSMUSG00000079036
AA Change: V43A

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162247
AA Change: V43A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124360
Gene: ENSMUSG00000079036
AA Change: V43A

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162961
AA Change: V43A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124565
Gene: ENSMUSG00000079036
AA Change: V43A

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Pfam:2OG-FeII_Oxy_2 98 344 6.7e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162986
AA Change: V43A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125372
Gene: ENSMUSG00000079036
AA Change: V43A

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000185301
SMART Domains Protein: ENSMUSP00000140233
Gene: ENSMUSG00000079036

DomainStartEndE-ValueType
low complexity region 54 66 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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 A T 5: 90,233,928 S2460T probably damaging Het
Ap4e1 T C 2: 127,028,281 L176P probably damaging Het
Caprin2 A G 6: 148,843,071 I952T probably damaging Het
Cdkl4 A T 17: 80,525,276 probably benign Het
Cfap44 T C 16: 44,407,404 L156P probably damaging Het
Dock9 A G 14: 121,668,468 L90S probably benign Het
Efhb T C 17: 53,462,453 D276G probably damaging Het
Ep300 A G 15: 81,641,418 D1481G unknown Het
Fam83b T C 9: 76,490,978 I948V probably benign Het
Fbxl5 G T 5: 43,765,336 H247N probably damaging Het
Fn1 A G 1: 71,652,873 I37T probably benign Het
Hfe C T 13: 23,705,852 probably benign Het
Ighv1-36 A T 12: 114,880,150 L29Q possibly damaging Het
Inpp5e G T 2: 26,408,521 Q23K probably benign Het
L3mbtl1 T C 2: 162,967,063 S619P probably damaging Het
Myh8 T C 11: 67,283,818 I253T probably damaging Het
Ntrk1 C T 3: 87,791,438 V99M possibly damaging Het
Olfr1489 A T 19: 13,633,539 I143F probably benign Het
Olfr571 T C 7: 102,909,272 H189R probably damaging Het
Pard6a T C 8: 105,702,814 S135P probably damaging Het
Prss43 G T 9: 110,829,470 Q279H probably benign Het
Ptcd2 T C 13: 99,330,065 N207D probably benign Het
Ros1 T C 10: 52,194,890 I23V probably benign Het
Scg5 A G 2: 113,827,570 probably benign Het
Sh3bp5 T A 14: 31,379,390 K212* probably null Het
Slc25a30 C T 14: 75,766,925 G244D possibly damaging Het
Slc38a10 T C 11: 120,106,602 R689G probably damaging Het
Spatc1 A G 15: 76,284,794 D321G probably damaging Het
Stat4 A T 1: 52,102,878 Y628F probably damaging Het
Wdr35 G A 12: 9,019,900 V813I probably benign Het
Other mutations in Alkbh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03111:Alkbh1 APN 12 87434137 missense probably damaging 1.00
IGL03264:Alkbh1 APN 12 87431427 missense probably damaging 1.00
R1439:Alkbh1 UTSW 12 87429145 missense probably damaging 1.00
R2056:Alkbh1 UTSW 12 87443750 unclassified probably benign
R2058:Alkbh1 UTSW 12 87443750 unclassified probably benign
R2059:Alkbh1 UTSW 12 87443750 unclassified probably benign
R4565:Alkbh1 UTSW 12 87431466 missense probably damaging 1.00
R5712:Alkbh1 UTSW 12 87429113 missense probably benign 0.05
R6291:Alkbh1 UTSW 12 87429094 missense possibly damaging 0.67
R7593:Alkbh1 UTSW 12 87440325 nonsense probably null
R7776:Alkbh1 UTSW 12 87431445 missense probably damaging 1.00
R8542:Alkbh1 UTSW 12 87431505 missense probably damaging 1.00
R8723:Alkbh1 UTSW 12 87438508 missense probably benign 0.10
R9363:Alkbh1 UTSW 12 87440310 nonsense probably null
Posted On 2011-12-09