Mutagenetix > Incidental Mutation

Incidental Mutation 'R4633:Alkbh2'

349338

Institutional Source

Beutler Lab

Gene Symbol

Alkbh2

Ensembl Gene

ENSMUSG00000044339

Gene Name

alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase

Synonyms

Abh2, mABH2

MMRRC Submission

041898-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4633 (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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

95% (73/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,606,503 (GRCm39)	L786Q	probably null	Het
Abcb6	A	T	1: 75,154,426 (GRCm39)		probably benign	Het
Alg10b	T	C	15: 90,112,497 (GRCm39)	V447A	probably benign	Het
B4galt7	A	G	13: 55,756,563 (GRCm39)	H203R	probably damaging	Het
Cd44	T	G	2: 102,683,392 (GRCm39)	D214A	possibly damaging	Het
Ces1c	T	C	8: 93,845,014 (GRCm39)	D275G	probably benign	Het
Cnot11	G	T	1: 39,575,299 (GRCm39)	W127L	probably benign	Het
Csmd1	A	G	8: 16,052,620 (GRCm39)	I2168T	probably damaging	Het
Cyp3a59	T	C	5: 146,031,248 (GRCm39)	F137S	probably damaging	Het
Dst	T	A	1: 34,209,515 (GRCm39)	L1234Q	probably damaging	Het
Erbb2	T	A	11: 98,323,814 (GRCm39)	I676N	possibly damaging	Het
Erlin1	G	A	19: 44,029,204 (GRCm39)	R243C	probably damaging	Het
Fanci	T	C	7: 79,076,990 (GRCm39)	L576P	probably damaging	Het
Fzd1	A	T	5: 4,805,865 (GRCm39)	Y572*	probably null	Het
Glg1	C	T	8: 111,904,276 (GRCm39)		probably null	Het
Gpr139	A	T	7: 118,743,628 (GRCm39)	I319N	probably damaging	Het
Hectd4	C	A	5: 121,487,279 (GRCm39)	H3425N	probably benign	Het
Itga10	A	G	3: 96,555,020 (GRCm39)	D118G	possibly damaging	Het
Klra13-ps	T	G	6: 130,268,136 (GRCm39)		noncoding transcript	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Krt5	T	A	15: 101,620,042 (GRCm39)	D225V	probably damaging	Het
Krtap4-9	G	T	11: 99,676,380 (GRCm39)		probably benign	Het
Lama1	C	A	17: 68,105,579 (GRCm39)	A2029E	probably damaging	Het
Lrp2	T	A	2: 69,291,761 (GRCm39)	T3473S	probably benign	Het
Lrrc37	A	T	11: 103,509,957 (GRCm39)		probably benign	Het
Lrriq1	G	A	10: 103,036,424 (GRCm39)	R910*	probably null	Het
Map1b	C	T	13: 99,571,450 (GRCm39)	V424M	probably damaging	Het
Mrtfb	T	C	16: 13,197,737 (GRCm39)	I85T	possibly damaging	Het
Mylk2	T	C	2: 152,759,335 (GRCm39)	S369P	probably benign	Het
Myom3	T	G	4: 135,503,010 (GRCm39)	F362L	probably benign	Het
Nomo1	A	G	7: 45,699,684 (GRCm39)		probably benign	Het
Or10s1	T	A	9: 39,985,630 (GRCm39)	V13E	probably damaging	Het
Or1p1	T	G	11: 74,180,120 (GRCm39)	M216R	probably benign	Het
Or2l13b	C	T	16: 19,349,034 (GRCm39)	G212D	possibly damaging	Het
Or2w4	A	G	13: 21,795,398 (GRCm39)	V247A	probably damaging	Het
Parp4	C	T	14: 56,885,048 (GRCm39)	L1376F	unknown	Het
Phykpl	C	A	11: 51,484,435 (GRCm39)	A208E	probably damaging	Het
Pla2g15	T	C	8: 106,886,887 (GRCm39)	F126S	probably damaging	Het
Polq	T	G	16: 36,868,904 (GRCm39)	M479R	probably damaging	Het
Prpf4b	A	G	13: 35,084,425 (GRCm39)	T938A	probably damaging	Het
Psma1	A	G	7: 113,870,369 (GRCm39)	M63T	probably damaging	Het
Rbpms2	T	C	9: 65,558,918 (GRCm39)	S174P	probably benign	Het
Rcc1	G	T	4: 132,063,080 (GRCm39)	S162R	probably damaging	Het
Rev3l	T	G	10: 39,722,182 (GRCm39)	L2520R	probably damaging	Het
Rhobtb1	T	A	10: 69,085,443 (GRCm39)		probably null	Het
Rps19	G	T	7: 24,588,595 (GRCm39)		probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Selenof	C	T	3: 144,302,622 (GRCm39)	R116*	probably null	Het
Slc16a11	T	C	11: 70,107,205 (GRCm39)		probably null	Het
Stk3	A	G	15: 34,959,074 (GRCm39)	V296A	probably damaging	Het
Taar8b	C	A	10: 23,968,150 (GRCm39)	E15*	probably null	Het
Tas2r102	T	A	6: 132,739,642 (GRCm39)	N183K	possibly damaging	Het
Tet2	T	A	3: 133,191,310 (GRCm39)	E1041D	probably benign	Het
Tm9sf1	A	G	14: 55,878,660 (GRCm39)	V244A	probably damaging	Het
Trgc4	G	T	13: 19,536,457 (GRCm39)	V172F	probably benign	Het
Trim24	T	A	6: 37,933,371 (GRCm39)	I650K	probably damaging	Het
Trim59	G	T	3: 68,944,747 (GRCm39)	Q198K	probably benign	Het
Ttc28	C	T	5: 111,371,867 (GRCm39)	T772I	probably damaging	Het
Tvp23a	C	T	16: 10,244,909 (GRCm39)	V146M	probably benign	Het
Usp17la	A	T	7: 104,509,428 (GRCm39)	D11V	possibly damaging	Het
Usp48	A	G	4: 137,362,211 (GRCm39)	K32R	probably damaging	Het
Uspl1	A	G	5: 149,151,202 (GRCm39)	K801E	probably damaging	Het
Utp20	T	C	10: 88,588,814 (GRCm39)	I2452V	probably benign	Het
Vps18	T	C	2: 119,123,757 (GRCm39)	L228P	probably damaging	Het
Yju2b	T	C	8: 84,987,024 (GRCm39)	T158A	probably benign	Het
Zfp410	A	T	12: 84,372,510 (GRCm39)	D112V	probably damaging	Het
Zfp872	G	T	9: 22,108,490 (GRCm39)		probably null	Het
Zswim8	A	G	14: 20,768,891 (GRCm39)	E1110G	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
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
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'- TTCATCATCAGCAGGCTTCC -3'
(R):5'- GCCTGCAGGTATTGTAAGAAGC -3'

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

Posted On

2015-10-08