Mutagenetix > Incidental Mutation

Incidental Mutation 'R4628:Alkbh2'

348939

Institutional Source

Beutler Lab

Gene Symbol

Alkbh2

Ensembl Gene

ENSMUSG00000044339

Gene Name

alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase

Synonyms

Abh2, mABH2

MMRRC Submission

041893-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4628 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114123926-114128218 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 114124226 bp (GRCm38)

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	G	C	5: 118,259,414	A154P	probably damaging	Het
Abca7	G	T	10: 80,015,188		probably null	Het
Abcb4	A	G	5: 8,907,399	D176G	probably benign	Het
Adamts18	C	T	8: 113,773,168	W371*	probably null	Het
AF366264	T	A	8: 13,836,625	R489W	probably damaging	Het
Akr1c13	G	T	13: 4,197,870	V214F	probably damaging	Het
Ankrd12	T	C	17: 65,985,994	T815A	probably benign	Het
Arid3a	T	C	10: 79,931,158	S89P	possibly damaging	Het
Ass1	A	T	2: 31,480,988	D63V	probably damaging	Het
Atxn3	T	A	12: 101,923,078		probably benign	Het
Bcap29	C	T	12: 31,626,807	S88N	probably benign	Het
Bsn	G	T	9: 108,113,235	P1773T	probably damaging	Het
Ccdc141	A	G	2: 77,059,680	S423P	probably benign	Het
Cfap46	A	T	7: 139,680,927	L85Q	probably damaging	Het
Chd8	T	C	14: 52,206,915	R438G	probably benign	Het
Chd9	T	A	8: 90,983,463	M289K	probably benign	Het
Col14a1	T	A	15: 55,449,833	Y26*	probably null	Het
Colec10	A	G	15: 54,459,731	T117A	possibly damaging	Het
Colq	C	A	14: 31,544,022	G178V	probably damaging	Het
Defb3	A	T	8: 19,295,140	R37S	probably benign	Het
Duox1	A	G	2: 122,346,252	Y1418C	probably damaging	Het
Engase	C	T	11: 118,484,905	S33F	probably damaging	Het
Erich3	A	T	3: 154,763,687	T1259S	probably damaging	Het
Fam98c	T	C	7: 29,155,268	T49A	possibly damaging	Het
Fhod3	T	A	18: 25,120,129	F1379I	possibly damaging	Het
Fndc3b	T	C	3: 27,556,128	I86V	probably benign	Het
Gm1123	A	G	9: 99,014,236	V197A	probably damaging	Het
Gm4847	A	T	1: 166,630,395	V463E	probably damaging	Het
Gm9772	T	C	17: 22,007,207	K32R	probably damaging	Het
Gm9804	T	C	12: 49,401,757	S161P	unknown	Het
Gpr162	C	T	6: 124,861,442	D82N	probably benign	Het
Grid2ip	T	C	5: 143,382,875	V650A	probably damaging	Het
Hs1bp3	T	C	12: 8,336,357	V253A	probably benign	Het
Hsd3b6	T	G	3: 98,806,579	K135Q	possibly damaging	Het
Igfn1	T	C	1: 135,959,730	D2532G	possibly damaging	Het
Iqgap2	A	G	13: 95,763,329	Y74H	probably benign	Het
Itga2	A	G	13: 114,877,693	V233A	probably benign	Het
Kat14	A	G	2: 144,404,220		probably benign	Het
Kctd21	A	G	7: 97,347,575	D85G	probably damaging	Het
Kera	A	G	10: 97,609,631	N284S	probably benign	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Lcmt1	T	A	7: 123,410,812	C183*	probably null	Het
Lcn5	A	G	2: 25,658,063	E28G	possibly damaging	Het
Leo1	A	T	9: 75,445,697	D174V	probably damaging	Het
Llgl1	A	T	11: 60,709,985	T636S	probably damaging	Het
Lrrc8e	T	A	8: 4,233,981	C69S	probably damaging	Het
Maml3	A	T	3: 51,796,470		probably benign	Het
Maz	G	T	7: 127,025,347	H334N	possibly damaging	Het
Mcm6	T	C	1: 128,351,548	D167G	probably benign	Het
Mrpl24	A	C	3: 87,922,129		probably null	Het
Myo18a	G	A	11: 77,824,136	V834M	probably damaging	Het
Neb	T	A	2: 52,308,350	R461*	probably null	Het
Notch4	C	A	17: 34,570,185	T486N	probably damaging	Het
Nphp3	A	G	9: 104,003,058	E93G	probably damaging	Het
Nup188	A	G	2: 30,329,346	Y858C	probably damaging	Het
Olfr339	T	A	2: 36,421,857	L153*	probably null	Het
Olfr45	T	A	7: 140,691,378	S158T	probably benign	Het
Olfr61	C	T	7: 140,638,384	R228C	probably benign	Het
Otud4	T	A	8: 79,639,968	D21E	possibly damaging	Het
Ovgp1	T	A	3: 105,980,323		probably null	Het
Pdia3	A	T	2: 121,414,139	N11I	possibly damaging	Het
Pex5	T	C	6: 124,403,120	D286G	possibly damaging	Het
Pias3	T	C	3: 96,699,820	I133T	probably damaging	Het
Postn	A	G	3: 54,372,157	D352G	probably damaging	Het
Prl7c1	T	C	13: 27,778,082	R81G	probably benign	Het
Rmi1	A	G	13: 58,409,136	R400G	probably benign	Het
Rtraf	T	A	14: 19,817,087	N116I	probably benign	Het
Slc6a12	T	A	6: 121,351,992	C50*	probably null	Het
Srcin1	T	A	11: 97,548,926	H126L	probably benign	Het
Tmtc2	A	T	10: 105,303,650	S672T	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ube2c	A	G	2: 164,772,173	N143S	possibly damaging	Het
Uroc1	A	T	6: 90,355,328	I556F	probably damaging	Het
Vmn1r124	T	A	7: 21,260,377	K81*	probably null	Het
Vmn1r57	T	A	7: 5,220,973	C166S	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r68	A	G	7: 85,234,465	V144A	probably benign	Het
Vmn2r85	C	T	10: 130,425,366	M367I	probably benign	Het
Vwa3a	T	A	7: 120,793,375	N812K	probably benign	Het
Wdfy4	A	T	14: 33,102,558	N1301K	probably damaging	Het
Zfhx4	G	A	3: 5,403,476	R2898H	probably damaging	Het

Other mutations in Alkbh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02298:Alkbh2	APN	5	114125572	missense	probably benign
R0326:Alkbh2	UTSW	5	114123950	makesense	probably null
R0480:Alkbh2	UTSW	5	114125535	missense	probably damaging	1.00
R0962:Alkbh2	UTSW	5	114123953	missense	possibly damaging	0.94
R1214:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1215:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1280:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1282:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1309:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1340:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1371:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1443:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1445:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1545:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1546:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1629:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1631:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1632:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1707:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1769:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1920:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1921:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1922:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R1984:Alkbh2	UTSW	5	114124054	missense	probably benign	0.12
R2140:Alkbh2	UTSW	5	114125716	missense	probably benign	0.03
R2142:Alkbh2	UTSW	5	114125716	missense	probably benign	0.03
R3800:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R3981:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R4032:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R4062:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R4064:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R4163:Alkbh2	UTSW	5	114127552	missense	probably damaging	1.00
R4569:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R4570:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R4624:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R4625:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R4626:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R4627:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R4630:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R4632:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R4633:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R4801:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R4802:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R4803:Alkbh2	UTSW	5	114124226	missense	probably damaging	0.98
R9519:Alkbh2	UTSW	5	114127733	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTCATCATCAGCAGGCTTCCG -3'
(R):5'- GCCTGCAGGTATTGTAAGAAGC -3'

Sequencing Primer
(F):5'- AGCAGGCTTCCGTGTGC -3'
(R):5'- CCCAAATAGTTCTACTAGCTGGGG -3'

Posted On

2015-10-08