Mutagenetix > Incidental Mutation

Incidental Mutation 'R1214:Alkbh2'

99515

Institutional Source

Beutler Lab

Gene Symbol

Alkbh2

Ensembl Gene

ENSMUSG00000044339

Gene Name

alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase

Synonyms

Abh2, mABH2

MMRRC Submission

039283-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1214 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114261987-114266279 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 114262287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 148 (E148K)

Ref Sequence

ENSEMBL: ENSMUSP00000107898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031588] [ENSMUST00000053657] [ENSMUST00000112279] [ENSMUST00000149418] [ENSMUST00000200119]

AlphaFold

Q6P6J4

Predicted Effect

probably benign
Transcript: ENSMUST00000031588

SMART Domains

Protein: ENSMUSP00000031588
Gene: ENSMUSG00000029592

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
transmembrane domain	35	57	N/A	INTRINSIC
Pfam:UCH	67	499	2.6e-44	PFAM
Pfam:UCH_1	68	481	8.8e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000053657
AA Change: E148K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056043
Gene: ENSMUSG00000044339
AA Change: E148K

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
Pfam:2OG-FeII_Oxy_2	47	232	1.9e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112279
AA Change: E148K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107898
Gene: ENSMUSG00000044339
AA Change: E148K

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
Pfam:2OG-FeII_Oxy_2	47	232	5.4e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149418

Predicted Effect

probably benign
Transcript: ENSMUST00000200119

SMART Domains

Protein: ENSMUSP00000142350
Gene: ENSMUSG00000029592

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
transmembrane domain	35	57	N/A	INTRINSIC
Pfam:UCH	67	368	2.9e-31	PFAM
Pfam:UCH_1	68	376	1e-14	PFAM

Meta Mutation Damage Score

0.2232

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.0%

Validation Efficiency

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 and ALKBH3 (MIM 610603) 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: Homozygous null mice are viable and overtly normal but show progressive accumulation of 1-methyladenine (1meA) in their genomic DNA due to impaired DNA repair. Mutant MEFs fail to remove methyl methane sulfate (MMS)-induced 1meA from genomic DNA and showincreased cytotoxicity after MMS exposure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dcdc2c	A	T	12: 28,580,429 (GRCm39)	Y201*	probably null	Het
Dock9	C	T	14: 121,823,728 (GRCm39)	V1395I	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Micall2	T	C	5: 139,697,396 (GRCm39)	S652G	probably damaging	Het
Or1j13	G	T	2: 36,369,981 (GRCm39)	H54N	possibly damaging	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or4f4b	T	C	2: 111,314,237 (GRCm39)	F154S	probably damaging	Het
Ptpre	A	T	7: 135,280,987 (GRCm39)	S643C	probably damaging	Het
Slc26a5	T	A	5: 22,019,981 (GRCm39)	I530F	probably damaging	Het
Slfn5	A	G	11: 82,850,917 (GRCm39)	M405V	probably benign	Het
Ttc29	A	G	8: 79,052,211 (GRCm39)	Y364C	probably damaging	Het
Tut7	A	G	13: 59,953,140 (GRCm39)	V100A	possibly damaging	Het
Wasf3	G	A	5: 146,407,098 (GRCm39)	V473M	probably damaging	Het

Other mutations in Alkbh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02298:Alkbh2	APN	5	114,263,633 (GRCm39)	missense	probably benign
R0326:Alkbh2	UTSW	5	114,262,011 (GRCm39)	makesense	probably null
R0480:Alkbh2	UTSW	5	114,263,596 (GRCm39)	missense	probably damaging	1.00
R0962:Alkbh2	UTSW	5	114,262,014 (GRCm39)	missense	possibly damaging	0.94
R1215:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R1280:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R1282:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R1309:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R1340:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R1371:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R1443:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R1445:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R1545:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R1546:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R1629:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R1631:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R1632:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R1707:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R1769:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R1920:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R1921:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R1922:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R1984:Alkbh2	UTSW	5	114,262,115 (GRCm39)	missense	probably benign	0.12
R2140:Alkbh2	UTSW	5	114,263,777 (GRCm39)	missense	probably benign	0.03
R2142:Alkbh2	UTSW	5	114,263,777 (GRCm39)	missense	probably benign	0.03
R3800:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R3981:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R4032:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R4062:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R4064:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R4163:Alkbh2	UTSW	5	114,265,613 (GRCm39)	missense	probably damaging	1.00
R4569:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R4570:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R4624:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R4625:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R4626:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R4627:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R4628:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R4630:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R4632:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R4633:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R4801:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R4802:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R4803:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
R9519:Alkbh2	UTSW	5	114,265,794 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCATCATCAGCAGGCTTCCGTG -3'
(R):5'- GACAGGCTTTCGGGCTGTGAAC -3'

Sequencing Primer
(F):5'- AGGCTTCCGTGTGCCAG -3'
(R):5'- acacagacagacagacagac -3'

Posted On

2014-01-15