Mutagenetix > Incidental Mutations

Incidental Mutation 'R4062:Alkbh2'

315902

Institutional Source

Beutler Lab

Gene Symbol

Alkbh2

Ensembl Gene

ENSMUSG00000044339

Gene Name

alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase

Synonyms

Abh2, mABH2

MMRRC Submission

040971-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4062 (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

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]

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: 97.4%
20x: 95.8%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	T	1: 53,158,769	L140Q	probably damaging	Het
Adam17	T	C	12: 21,325,457	D787G	probably damaging	Het
Adamtsl4	T	C	3: 95,677,554	K935E	probably benign	Het
Bnip3l	T	C	14: 67,008,738	N16S	possibly damaging	Het
Cd320	T	A	17: 33,847,517	N90K	probably benign	Het
Cdc40	A	T	10: 40,849,852		probably null	Het
Clec4b1	C	A	6: 123,068,484	H55N	probably benign	Het
Cyp4a10	A	T	4: 115,519,701	R87S	probably benign	Het
Duoxa2	G	T	2: 122,300,577	S73I	probably damaging	Het
Dytn	A	G	1: 63,647,447	C355R	probably benign	Het
Emilin3	T	C	2: 160,907,796	T631A	probably benign	Het
Ep400	A	T	5: 110,741,981	M472K	probably benign	Het
Erap1	G	T	13: 74,663,536	M338I	probably benign	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fanca	T	C	8: 123,275,172	T1061A	probably benign	Het
Fat1	A	T	8: 45,025,481	E2521D	probably benign	Het
Gcdh	T	C	8: 84,892,453	I152V	probably damaging	Het
Gls	T	C	1: 52,196,748	K403E	probably damaging	Het
Gorasp2	T	C	2: 70,679,513	C173R	probably damaging	Het
Greb1l	G	A	18: 10,522,150	V749I	probably damaging	Het
Hnrnpll	T	C	17: 80,032,772	H526R	probably benign	Het
Il18r1	G	A	1: 40,474,936	V101I	probably benign	Het
Incenp	A	T	19: 9,883,778	M480K	unknown	Het
Isl1	T	A	13: 116,303,090	I241F	probably benign	Het
Kdm6a	A	G	X: 18,250,875	T266A	probably benign	Het
Lcp1	T	C	14: 75,215,180	V442A	probably damaging	Het
Mast3	A	G	8: 70,781,194	V969A	probably damaging	Het
Mbnl1	T	C	3: 60,603,755	L136P	probably damaging	Het
Mrps24	G	A	11: 5,704,676	R93*	probably null	Het
Nkd2	C	T	13: 73,822,690	G258R	probably null	Het
Obscn	T	C	11: 59,082,710	T1932A	probably damaging	Het
Otop2	G	A	11: 115,329,375	G347D	probably damaging	Het
Plagl1	TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC	TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC	10: 13,128,771		probably benign	Het
Ptpn18	A	T	1: 34,472,930	H45L	possibly damaging	Het
Rab3il1	T	C	19: 10,026,624	S36P	probably benign	Het
Rims1	G	T	1: 22,533,583	N512K	probably benign	Het
Rinl	T	C	7: 28,790,715	Y60H	probably benign	Het
Scamp2	G	T	9: 57,577,262		probably null	Het
Sept9	T	C	11: 117,352,265	S324P	probably damaging	Het
Sh3pxd2b	G	T	11: 32,422,263	A477S	probably benign	Het
Soat2	A	G	15: 102,161,091	T396A	possibly damaging	Het
Tenm2	C	T	11: 36,008,655	G2559S	probably damaging	Het
Tpcn1	G	A	5: 120,557,897	A97V	possibly damaging	Het
Trdn	A	G	10: 33,257,087	E311G	probably benign	Het
Usp13	T	C	3: 32,881,423	Y333H	probably damaging	Het
Usp18	A	G	6: 121,261,367	T158A	probably benign	Het
Vmn1r118	G	T	7: 20,912,008	Q114K	probably damaging	Het
Wwp1	A	T	4: 19,638,644	N566K	possibly damaging	Het
Zfp292	A	G	4: 34,810,863	V727A	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
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
R4628: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

Predicted Primers

PCR Primer
(F):5'- ATCATCAGCAGGCTTCCGTG -3'
(R):5'- GGCCTGCAGGTATTGTAAGAAG -3'

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

Posted On

2015-05-15