Mutagenetix > Incidental Mutation

Incidental Mutation 'R6216:Alkbh3'

503694

Institutional Source

Beutler Lab

Gene Symbol

Alkbh3

Ensembl Gene

ENSMUSG00000040174

Gene Name

alkB homolog 3, alpha-ketoglutarate-dependent dioxygenase

Synonyms

1810020C19Rik, Abh3, mABH3, 1700108H04Rik

MMRRC Submission

044349-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R6216 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93810979-93841099 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 93838881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040005] [ENSMUST00000111240] [ENSMUST00000126378]

AlphaFold

Q8K1E6

Predicted Effect

probably benign
Transcript: ENSMUST00000040005

SMART Domains

Protein: ENSMUSP00000038721
Gene: ENSMUSG00000040174

Domain	Start	End	E-Value	Type
Pfam:2OG-FeII_Oxy_2	89	275	2e-34	PFAM
Pfam:2OG-FeII_Oxy	172	277	2.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111240

SMART Domains

Protein: ENSMUSP00000106871
Gene: ENSMUSG00000040174

Domain	Start	End	E-Value	Type
Pfam:2OG-FeII_Oxy_2	90	276	3.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126378

SMART Domains

Protein: ENSMUSP00000122043
Gene: ENSMUSG00000040174

Domain	Start	End	E-Value	Type
Pfam:2OG-FeII_Oxy_2	90	202	8.9e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127231

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138046

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138107

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156763

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (67/69)

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 (MIM 610602) and ALKBH3 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: Mice homozygous for a knock-out allele exhibit a normal lifespan and are phenotypically indistinguishable from control littermates. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,164,910 (GRCm39)	D488G	probably benign	Het
Adgrv1	C	A	13: 81,672,590 (GRCm39)		probably null	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankrd22	A	T	19: 34,101,569 (GRCm39)		probably null	Het
Anks1b	A	G	10: 90,096,618 (GRCm39)	D425G	probably damaging	Het
Arid2	A	G	15: 96,254,790 (GRCm39)	D212G	probably benign	Het
Bbx	A	T	16: 50,071,751 (GRCm39)	S225T	probably benign	Het
Bivm	T	A	1: 44,166,028 (GRCm39)		probably null	Het
Bpifb3	A	G	2: 153,767,773 (GRCm39)	Y282C	probably benign	Het
Cacna1h	A	T	17: 25,597,793 (GRCm39)	I1767N	probably damaging	Het
Ccdc28a	G	T	10: 18,100,719 (GRCm39)	S36*	probably null	Het
Ccser2	A	G	14: 36,662,465 (GRCm39)	S240P	probably damaging	Het
Ceacam1	A	T	7: 25,171,421 (GRCm39)	S348T	probably benign	Het
Ddx49	C	T	8: 70,749,934 (GRCm39)	G161D	probably damaging	Het
Dhx16	A	G	17: 36,193,864 (GRCm39)	E353G	possibly damaging	Het
Dnaaf6rt	A	T	1: 31,262,432 (GRCm39)	D138V	probably damaging	Het
Etv2	A	G	7: 30,334,036 (GRCm39)		probably null	Het
Extl1	T	C	4: 134,090,441 (GRCm39)	T345A	probably benign	Het
Fam163a	A	T	1: 155,954,741 (GRCm39)	S137T	probably benign	Het
Fermt2	A	T	14: 45,697,338 (GRCm39)	M671K	possibly damaging	Het
Fsd1l	T	C	4: 53,694,742 (GRCm39)	C388R	probably damaging	Het
Galnt18	A	C	7: 111,112,757 (GRCm39)	V470G	probably benign	Het
Grin2b	T	A	6: 135,749,397 (GRCm39)	I602F	probably damaging	Het
Gucy1b1	G	T	3: 81,954,020 (GRCm39)		probably null	Het
Hace1	T	C	10: 45,494,643 (GRCm39)	V151A	probably benign	Het
Hadhb	T	A	5: 30,379,929 (GRCm39)	D258E	probably benign	Het
Heatr1	C	T	13: 12,447,545 (GRCm39)	T1746I	probably benign	Het
Hrnr	T	C	3: 93,239,469 (GRCm39)	S3236P	unknown	Het
Kcnd1	G	C	X: 7,690,148 (GRCm39)	A23P	probably damaging	Homo
Kiz	C	A	2: 146,731,417 (GRCm39)	D302E	probably damaging	Het
Kng2	A	T	16: 22,806,343 (GRCm39)	W619R	probably damaging	Het
Mfap3l	C	A	8: 61,124,841 (GRCm39)	T361K	probably damaging	Het
Mlec	T	C	5: 115,288,376 (GRCm39)	H160R	probably benign	Het
Myo16	T	C	8: 10,365,494 (GRCm39)	L89P	probably benign	Het
Neb	T	C	2: 52,114,564 (GRCm39)	I4232V	probably benign	Het
Nf1	A	G	11: 79,302,433 (GRCm39)	I334V	possibly damaging	Het
Nipbl	A	C	15: 8,347,867 (GRCm39)	F1942V	probably damaging	Het
Or2ag17	A	T	7: 106,389,665 (GRCm39)	I181N	probably benign	Het
Or4a70	C	A	2: 89,324,066 (GRCm39)	V197F	probably damaging	Het
Or4c11c	T	C	2: 88,661,655 (GRCm39)	S65P	probably damaging	Het
Or51a10	A	G	7: 103,698,902 (GRCm39)	Y220H	probably damaging	Het
Pabpc2	G	T	18: 39,907,772 (GRCm39)	A346S	probably damaging	Het
Paxip1	T	C	5: 27,971,171 (GRCm39)	T393A	unknown	Het
Pcdhgb5	A	T	18: 37,864,981 (GRCm39)	T259S	probably benign	Het
Pfkp	A	T	13: 6,669,224 (GRCm39)	L253H	probably benign	Het
Piezo1	T	C	8: 123,215,869 (GRCm39)	D1428G	probably benign	Het
Pkd1l2	T	G	8: 117,808,209 (GRCm39)	D105A	probably damaging	Het
Pou2f1	G	T	1: 165,707,889 (GRCm39)		probably benign	Het
Ppfia4	T	C	1: 134,256,921 (GRCm39)	E100G	probably damaging	Het
Ppp1r15a	G	T	7: 45,173,446 (GRCm39)	T454K	probably damaging	Het
Prpsap1	A	T	11: 116,362,239 (GRCm39)	I381N	probably damaging	Het
Ptx3	T	A	3: 66,132,265 (GRCm39)	V262E	probably damaging	Het
Rab21	A	T	10: 115,130,831 (GRCm39)	H158Q	probably benign	Het
Rasa2	A	G	9: 96,426,357 (GRCm39)	S830P	probably damaging	Het
Rdh1	G	A	10: 127,600,622 (GRCm39)	S215N	probably benign	Het
Rhot1	G	A	11: 80,141,885 (GRCm39)	R463H	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Selenom	A	T	11: 3,464,915 (GRCm39)		probably benign	Het
Selenop	T	C	15: 3,308,947 (GRCm39)	C300R	probably damaging	Het
Skint1	T	A	4: 111,878,679 (GRCm39)	S204T	probably benign	Het
Ss18l1	A	G	2: 179,703,706 (GRCm39)	N313S	unknown	Het
Sycp2l	A	G	13: 41,295,200 (GRCm39)	D289G	probably damaging	Het
Terf1	C	T	1: 15,889,221 (GRCm39)	H188Y	probably benign	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Trdn	A	G	10: 33,181,065 (GRCm39)	T357A	probably damaging	Het
Trip11	A	C	12: 101,856,859 (GRCm39)	M401R	probably benign	Het
Ubald2	A	C	11: 116,325,211 (GRCm39)	D26A	probably benign	Het
Ube2w	C	G	1: 16,689,508 (GRCm39)		probably benign	Het
Vmn2r101	T	A	17: 19,811,267 (GRCm39)	S450R	probably benign	Het

Other mutations in Alkbh3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Alkbh3	APN	2	93,833,396 (GRCm39)	critical splice donor site	probably null
IGL01940:Alkbh3	APN	2	93,811,940 (GRCm39)	missense	probably damaging	0.98
IGL02554:Alkbh3	APN	2	93,826,692 (GRCm39)	missense	probably damaging	1.00
IGL02638:Alkbh3	APN	2	93,838,458 (GRCm39)	missense	probably benign	0.02
IGL02640:Alkbh3	APN	2	93,826,706 (GRCm39)	missense	possibly damaging	0.90
R0409:Alkbh3	UTSW	2	93,831,793 (GRCm39)	missense	possibly damaging	0.84
R0437:Alkbh3	UTSW	2	93,811,914 (GRCm39)	missense	probably damaging	1.00
R1456:Alkbh3	UTSW	2	93,831,764 (GRCm39)	splice site	probably null
R1592:Alkbh3	UTSW	2	93,838,769 (GRCm39)	splice site	probably null
R2359:Alkbh3	UTSW	2	93,838,458 (GRCm39)	missense	probably benign	0.01
R3109:Alkbh3	UTSW	2	93,835,108 (GRCm39)	missense	probably damaging	1.00
R4297:Alkbh3	UTSW	2	93,838,469 (GRCm39)	missense	probably benign
R5562:Alkbh3	UTSW	2	93,826,724 (GRCm39)	splice site	probably null
R7088:Alkbh3	UTSW	2	93,835,097 (GRCm39)	missense	possibly damaging	0.55
R7711:Alkbh3	UTSW	2	93,838,437 (GRCm39)	missense	probably benign
R8014:Alkbh3	UTSW	2	93,831,858 (GRCm39)	missense	probably benign
R8940:Alkbh3	UTSW	2	93,838,391 (GRCm39)	missense	probably damaging	1.00
R9077:Alkbh3	UTSW	2	93,811,925 (GRCm39)	missense	probably damaging	0.97
R9158:Alkbh3	UTSW	2	93,835,082 (GRCm39)	missense	probably damaging	1.00
R9297:Alkbh3	UTSW	2	93,835,082 (GRCm39)	missense	probably damaging	1.00
R9712:Alkbh3	UTSW	2	93,811,318 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2018-02-27