Mutagenetix > Incidental Mutation

Incidental Mutation 'R4625:Alkbh2'

346481

Institutional Source

Beutler Lab

Gene Symbol

Alkbh2

Ensembl Gene

ENSMUSG00000044339

Gene Name

alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase

Synonyms

Abh2, mABH2

MMRRC Submission

041890-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4625 (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: 95.1%

Validation Efficiency

97% (75/77)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	C	5: 144,981,693 (GRCm39)	E176A	possibly damaging	Het
Abcc2	A	G	19: 43,792,178 (GRCm39)	I320V	probably benign	Het
Abtb1	C	T	6: 88,813,269 (GRCm39)	A466T	probably benign	Het
Ak6	C	A	13: 100,792,181 (GRCm39)	T208K	probably benign	Het
Albfm1	G	T	5: 90,719,611 (GRCm39)	V236L	probably damaging	Het
Anapc15	T	A	7: 101,550,239 (GRCm39)		probably benign	Het
Anxa2r1	G	T	13: 120,496,765 (GRCm39)	R35S	possibly damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Aspn	A	G	13: 49,710,901 (GRCm39)	D182G	probably benign	Het
Astn1	A	T	1: 158,407,864 (GRCm39)	D607V	probably damaging	Het
Btnl1	A	G	17: 34,598,725 (GRCm39)	I114V	probably null	Het
Ccdc159	A	G	9: 21,840,762 (GRCm39)	S110G	probably benign	Het
Cdh18	A	C	15: 22,714,128 (GRCm39)		probably benign	Het
Cdh22	A	G	2: 164,954,526 (GRCm39)	I665T	probably damaging	Het
Cenpk	T	A	13: 104,385,901 (GRCm39)	H265Q	possibly damaging	Het
Chd6	A	G	2: 160,811,412 (GRCm39)	L1397P	probably damaging	Het
Chia1	A	C	3: 106,036,256 (GRCm39)	N279H	probably benign	Het
Cyp8b1	T	C	9: 121,744,651 (GRCm39)	E227G	probably damaging	Het
Dmxl2	A	T	9: 54,311,404 (GRCm39)	N1772K	possibly damaging	Het
Dnah2	A	G	11: 69,354,487 (GRCm39)	S2244P	probably damaging	Het
Fshr	T	C	17: 89,293,148 (GRCm39)	Y510C	probably damaging	Het
Gm5087	T	C	14: 13,158,798 (GRCm38)		noncoding transcript	Het
Gm7135	A	C	1: 97,387,351 (GRCm39)		noncoding transcript	Het
Hnrnpll	A	T	17: 80,358,291 (GRCm39)	Y153*	probably null	Het
Htt	T	A	5: 34,987,129 (GRCm39)	V1116E	probably damaging	Het
Ikzf5	A	T	7: 130,995,482 (GRCm39)		probably null	Het
Kcnb1	A	G	2: 167,030,153 (GRCm39)	S131P	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Kif1a	A	T	1: 92,970,381 (GRCm39)	D952E	probably benign	Het
Klf4	A	G	4: 55,530,370 (GRCm39)	V247A	probably benign	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lamc1	A	G	1: 153,118,442 (GRCm39)	S910P	probably benign	Het
Lin9	T	A	1: 180,516,845 (GRCm39)	N512K	probably damaging	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Mrps30	A	G	13: 118,523,250 (GRCm39)	V174A	probably benign	Het
Myo1g	T	C	11: 6,462,240 (GRCm39)	E574G	probably damaging	Het
Nphp3	G	A	9: 103,913,358 (GRCm39)	G997R	possibly damaging	Het
Obscn	A	G	11: 58,958,084 (GRCm39)	C3748R	probably damaging	Het
Or1j17	A	G	2: 36,578,083 (GRCm39)	D23G	probably benign	Het
Or5p69	T	C	7: 107,966,895 (GRCm39)	L66P	probably damaging	Het
Or8g28	A	T	9: 39,169,614 (GRCm39)	M118K	probably damaging	Het
Or9s18	T	A	13: 65,300,674 (GRCm39)	V212D	possibly damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Ptch1	T	C	13: 63,670,978 (GRCm39)	T851A	probably benign	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rbp3	A	G	14: 33,678,056 (GRCm39)	Q668R	probably benign	Het
Rfwd3	T	C	8: 112,002,990 (GRCm39)	T611A	probably benign	Het
Rhcg	T	A	7: 79,251,352 (GRCm39)	D219V	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Slc25a26	G	T	6: 94,484,633 (GRCm39)	V58F	probably damaging	Het
Smarca5	T	A	8: 81,437,192 (GRCm39)	K721N	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Speer2	A	T	16: 69,655,642 (GRCm39)	Y61*	probably null	Het
Spef2	T	C	15: 9,647,524 (GRCm39)	Y961C	probably damaging	Het
Sptb	C	A	12: 76,634,100 (GRCm39)		probably null	Het
Svep1	T	G	4: 58,072,698 (GRCm39)	N2204H	probably damaging	Het
Tex56	G	A	13: 35,116,448 (GRCm39)	G66S	probably damaging	Het
Tmem86a	C	A	7: 46,702,613 (GRCm39)	P13T	probably damaging	Het
Tmt1a	A	T	15: 100,210,939 (GRCm39)	Q170L	probably damaging	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Tox2	G	A	2: 163,156,336 (GRCm39)	S211N	possibly damaging	Het
Trpc6	A	T	9: 8,677,963 (GRCm39)	E762D	probably benign	Het
Tshb	C	T	3: 102,685,461 (GRCm39)		probably null	Het
Ttc3	T	A	16: 94,189,131 (GRCm39)	L163*	probably null	Het
Twsg1	G	T	17: 66,236,546 (GRCm39)	D161E	probably benign	Het
Uchl4	A	C	9: 64,143,080 (GRCm39)	D187A	probably damaging	Het
Vmn2r104	A	T	17: 20,268,443 (GRCm39)	W9R	probably benign	Het
Yju2	T	A	17: 56,271,598 (GRCm39)	L173Q	probably damaging	Het
Zfp14	G	A	7: 29,738,020 (GRCm39)	Q322*	probably null	Het
Znhit3	G	A	11: 84,802,316 (GRCm39)	P145S	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
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
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
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'- GGCCTGCAGGTATTGTAAGAAG -3'

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

Posted On

2015-09-25