Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02638:Alkbh3'

301611

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Alkbh3

Ensembl Gene

ENSMUSG00000040174

Gene Name

alkB homolog 3, alpha-ketoglutarate-dependent dioxygenase

Synonyms

1810020C19Rik, Abh3, mABH3, 1700108H04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

IGL02638

Quality Score

Status

Chromosome

Chromosomal Location

93810979-93841099 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93838458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 38 (T38S)

Ref Sequence

ENSEMBL: ENSMUSP00000122043 (fasta)

Gene Model

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

AlphaFold

Q8K1E6

Predicted Effect

probably benign
Transcript: ENSMUST00000040005
AA Change: T37S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038721
Gene: ENSMUSG00000040174
AA Change: T37S

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
AA Change: T38S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106871
Gene: ENSMUSG00000040174
AA Change: T38S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126378
AA Change: T38S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000122043
Gene: ENSMUSG00000040174
AA Change: T38S

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

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 (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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btbd8	T	C	5: 107,656,422 (GRCm39)	V895A	possibly damaging	Het
Cdkn2c	A	G	4: 109,522,209 (GRCm39)		probably benign	Het
Clca4b	A	C	3: 144,631,939 (GRCm39)	C189G	probably damaging	Het
Clec4f	T	A	6: 83,629,682 (GRCm39)	N292I	possibly damaging	Het
Dkk3	A	C	7: 111,748,234 (GRCm39)	S123R	probably benign	Het
Dock1	C	T	7: 134,748,209 (GRCm39)	A1557V	probably benign	Het
E130308A19Rik	C	T	4: 59,719,676 (GRCm39)	Q403*	probably null	Het
F5	G	A	1: 164,012,177 (GRCm39)		probably null	Het
Fam98c	T	A	7: 28,852,187 (GRCm39)	D326V	probably damaging	Het
Firrm	G	A	1: 163,786,868 (GRCm39)	Q734*	probably null	Het
Frem2	A	C	3: 53,458,767 (GRCm39)	V2034G	possibly damaging	Het
Galnt2	G	A	8: 124,958,318 (GRCm39)	G18D	probably damaging	Het
Grhl3	T	C	4: 135,284,176 (GRCm39)	E222G	probably benign	Het
Hif3a	A	C	7: 16,778,293 (GRCm39)		probably benign	Het
Ibtk	C	T	9: 85,601,946 (GRCm39)	G755D	probably damaging	Het
Laptm4b	A	G	15: 34,277,630 (GRCm39)	N187S	probably benign	Het
Lrba	A	G	3: 86,232,380 (GRCm39)	T776A	probably damaging	Het
Matcap2	A	T	9: 22,341,775 (GRCm39)	K149*	probably null	Het
Mfhas1	T	A	8: 36,058,104 (GRCm39)	W860R	possibly damaging	Het
Mon2	A	C	10: 122,859,844 (GRCm39)	W811G	probably damaging	Het
Nup42	A	G	5: 24,380,505 (GRCm39)	T167A	probably benign	Het
Or10j2	A	G	1: 173,097,898 (GRCm39)	D52G	probably benign	Het
Or2z2	C	A	11: 58,345,873 (GRCm39)	A301S	probably damaging	Het
Or4k45	T	C	2: 111,395,249 (GRCm39)	D180G	probably damaging	Het
Or5w10	T	C	2: 87,375,093 (GRCm39)	Y265C	probably damaging	Het
Or8j3c	T	C	2: 86,254,021 (GRCm39)		probably null	Het
Pgap2	T	C	7: 101,886,629 (GRCm39)	L217P	probably damaging	Het
Pik3c2b	T	G	1: 133,005,056 (GRCm39)		probably benign	Het
Ppfia3	T	A	7: 45,006,092 (GRCm39)	D149V	probably damaging	Het
Prkcb	C	T	7: 122,200,063 (GRCm39)		probably benign	Het
Prl	A	G	13: 27,245,562 (GRCm39)	D97G	probably benign	Het
Psma5-ps	T	C	10: 85,149,698 (GRCm39)		noncoding transcript	Het
Rnf112	T	C	11: 61,340,231 (GRCm39)		probably benign	Het
Slc17a8	C	A	10: 89,412,465 (GRCm39)	G323*	probably null	Het
Snx19	T	C	9: 30,343,660 (GRCm39)	F607L	possibly damaging	Het
Suco	A	G	1: 161,655,256 (GRCm39)	S1079P	probably damaging	Het
Taf5	T	C	19: 47,056,649 (GRCm39)	L149P	probably benign	Het
Taf6l	T	C	19: 8,752,630 (GRCm39)	M379V	probably benign	Het
Tcf25	T	C	8: 124,126,031 (GRCm39)	F558L	probably damaging	Het
Tlcd1	T	C	11: 78,070,444 (GRCm39)	V102A	probably benign	Het
Tmc5	G	T	7: 118,226,456 (GRCm39)	A274S	probably benign	Het
Toporsl	C	T	4: 52,611,624 (GRCm39)	H506Y	probably benign	Het
Ubtd1	T	C	19: 42,022,109 (GRCm39)	L127P	possibly damaging	Het
Usp24	A	C	4: 106,295,967 (GRCm39)		probably benign	Het
Usp24	C	A	4: 106,295,969 (GRCm39)		probably benign	Het
Usp43	T	G	11: 67,746,581 (GRCm39)	D1042A	probably benign	Het
Whrn	T	C	4: 63,337,709 (GRCm39)	T48A	possibly damaging	Het
Wnt2b	A	G	3: 104,862,032 (GRCm39)	I102T	probably benign	Het
Zfp763	T	C	17: 33,238,908 (GRCm39)	D79G	probably benign	Het
Zmat4	A	G	8: 24,287,389 (GRCm39)	Y45C	probably damaging	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
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
R6216:Alkbh3	UTSW	2	93,838,881 (GRCm39)	start gained	probably benign
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

Posted On

2015-04-16