Mutagenetix > Incidental Mutation

Incidental Mutation 'R4569:Alkbh2'

341990

Institutional Source

Beutler Lab

Gene Symbol

Alkbh2

Ensembl Gene

ENSMUSG00000044339

Gene Name

alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase

Synonyms

Abh2, mABH2

MMRRC Submission

041793-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4569 (G1)

Quality Score

225

Status

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (87/88)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,275,262 (GRCm39)	T322A	probably benign	Het
Abhd13	C	T	8: 10,038,071 (GRCm39)	P223S	possibly damaging	Het
Adgra3	T	A	5: 50,117,905 (GRCm39)	L1214F	probably damaging	Het
Ankrd13a	C	A	5: 114,927,373 (GRCm39)	P120Q	probably damaging	Het
Apbb1ip	A	G	2: 22,739,556 (GRCm39)	Y277C	probably damaging	Het
Arfgap1	T	C	2: 180,618,166 (GRCm39)		probably benign	Het
Arid2	T	A	15: 96,290,343 (GRCm39)	V1746D	probably damaging	Het
C1qtnf7	T	A	5: 43,766,549 (GRCm39)	N49K	possibly damaging	Het
Cacnb2	A	T	2: 14,990,811 (GRCm39)	D587V	possibly damaging	Het
Ccar2	A	T	14: 70,389,359 (GRCm39)		probably null	Het
Cdk2ap2	T	C	19: 4,147,879 (GRCm39)	F49L	possibly damaging	Het
Cdon	A	T	9: 35,388,265 (GRCm39)	I747F	probably damaging	Het
Cyp19a1	G	A	9: 54,100,607 (GRCm39)	P27S	probably benign	Het
Cyp4v3	T	A	8: 45,760,029 (GRCm39)	R508W	probably damaging	Het
Dclk1	T	C	3: 55,154,831 (GRCm39)	L87P	probably damaging	Het
Ddx41	G	A	13: 55,683,834 (GRCm39)	R66C	possibly damaging	Het
Dmxl1	T	C	18: 49,985,427 (GRCm39)	Y225H	probably damaging	Het
Dnah7a	G	A	1: 53,450,818 (GRCm39)	P3871S	probably benign	Het
Dnhd1	A	G	7: 105,306,373 (GRCm39)		probably null	Het
Dph1	A	T	11: 75,069,721 (GRCm39)		probably benign	Het
Egln2	A	G	7: 26,859,008 (GRCm39)	I382T	probably damaging	Het
Enpp3	A	G	10: 24,652,780 (GRCm39)	Y726H	probably damaging	Het
Fbxo32	A	G	15: 58,044,873 (GRCm39)	F353L	probably damaging	Het
Fchsd2	G	A	7: 100,926,809 (GRCm39)	G657D	possibly damaging	Het
Fer1l4	T	A	2: 155,878,559 (GRCm39)	E44V	possibly damaging	Het
Gjb2	C	T	14: 57,337,762 (GRCm39)	V149I	probably benign	Het
Glipr1l1	A	G	10: 111,898,317 (GRCm39)	M141V	probably benign	Het
Gnaq	T	C	19: 16,312,370 (GRCm39)	S211P	probably damaging	Het
Gnl1	A	G	17: 36,299,142 (GRCm39)	R527G	probably benign	Het
Gns	A	G	10: 121,217,083 (GRCm39)	Q286R	probably benign	Het
Gon4l	T	C	3: 88,817,397 (GRCm39)		probably benign	Het
Gpr107	T	C	2: 31,097,677 (GRCm39)		probably benign	Het
Gprasp1	C	T	X: 134,703,592 (GRCm39)	R1262C	probably damaging	Het
Gtf2ird1	A	T	5: 134,439,857 (GRCm39)	D124E	probably damaging	Het
Hbp1	T	A	12: 32,000,231 (GRCm39)		probably benign	Het
Hrnr	C	T	3: 93,230,875 (GRCm39)	T371I	unknown	Het
Ints2	A	G	11: 86,147,024 (GRCm39)	C41R	probably damaging	Het
Jhy	A	G	9: 40,822,389 (GRCm39)	I583T	probably benign	Het
Jph4	G	T	14: 55,352,503 (GRCm39)	R77S	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klhl12	A	T	1: 134,413,507 (GRCm39)	I331F	probably benign	Het
Map4k4	G	A	1: 40,039,698 (GRCm39)	R30Q	probably damaging	Het
Mgst1	C	A	6: 138,133,213 (GRCm39)	T176K	probably damaging	Het
Negr1	C	A	3: 156,914,013 (GRCm39)		probably benign	Het
Nrg1	C	T	8: 32,407,802 (GRCm39)	V144I	probably benign	Het
Ntmt2	T	A	1: 163,530,586 (GRCm39)	*284C	probably null	Het
Or1ad8	T	C	11: 50,898,381 (GRCm39)	I194T	possibly damaging	Het
Otog	A	G	7: 45,959,571 (GRCm39)	D720G	probably damaging	Het
Pex11b	A	T	3: 96,551,330 (GRCm39)		probably benign	Het
Phtf2	T	C	5: 20,994,593 (GRCm39)		probably benign	Het
Ppip5k1	C	T	2: 121,174,044 (GRCm39)	R359Q	possibly damaging	Het
Prickle2	T	C	6: 92,399,323 (GRCm39)	I185V	probably benign	Het
Prrc2a	G	A	17: 35,377,473 (GRCm39)	P562S	unknown	Het
Rdx	A	G	9: 51,980,141 (GRCm39)	I245V	probably benign	Het
Rem2	T	C	14: 54,715,116 (GRCm39)	S98P	probably damaging	Het
Rhob	T	G	12: 8,549,373 (GRCm39)	D87A	probably damaging	Het
Ros1	T	A	10: 52,040,090 (GRCm39)	E300D	probably damaging	Het
Sbf2	A	G	7: 109,948,060 (GRCm39)		probably null	Het
Sipa1l3	G	T	7: 29,025,287 (GRCm39)	P619Q	probably damaging	Het
Snupn	A	G	9: 56,885,346 (GRCm39)	E217G	probably benign	Het
Ston2	T	A	12: 91,606,496 (GRCm39)	*896C	probably null	Het
Stradb	C	T	1: 59,019,117 (GRCm39)	R13*	probably null	Het
Tbx21	G	A	11: 97,005,581 (GRCm39)	A128V	probably benign	Het
Tep1	A	T	14: 51,062,197 (GRCm39)	C2552S	probably benign	Het
Tgif1	A	T	17: 71,151,912 (GRCm39)	V233E	possibly damaging	Het
Trim31	A	T	17: 37,209,633 (GRCm39)	I130L	probably benign	Het
Trrap	C	T	5: 144,728,928 (GRCm39)	T614I	probably benign	Het
Ttn	C	A	2: 76,766,758 (GRCm39)	V3107F	probably damaging	Het
Txnrd2	T	G	16: 18,274,956 (GRCm39)	D322E	probably benign	Het
Unc45b	T	A	11: 82,827,315 (GRCm39)		probably null	Het
Usp43	C	T	11: 67,789,788 (GRCm39)	C252Y	probably damaging	Het
Usp43	A	T	11: 67,766,178 (GRCm39)	L744*	probably null	Het
Vmn2r71	A	C	7: 85,273,402 (GRCm39)	K739Q	possibly damaging	Het
Vps16	C	T	2: 130,284,124 (GRCm39)	T653M	probably benign	Het
Wdr83os	T	A	8: 85,808,495 (GRCm39)	S82R	probably damaging	Het
Xpo6	T	A	7: 125,727,427 (GRCm39)	L526F	probably damaging	Het
Zfhx4	G	A	3: 5,466,894 (GRCm39)	V2351I	probably benign	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	possibly 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
R1214:Alkbh2	UTSW	5	114,262,287 (GRCm39)	missense	probably damaging	0.98
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
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'- ATCATCAGCAGGCTTCCGTG -3'
(R):5'- GCCTGCAGGTATTGTAAGAAGC -3'

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

Posted On

2015-09-24