Mutagenetix > Incidental Mutation

Incidental Mutation 'R5961:Alkbh6'

471826

Institutional Source

Beutler Lab

Gene Symbol

Alkbh6

Ensembl Gene

ENSMUSG00000042831

Gene Name

alkB homolog 6

Synonyms

Abh6

MMRRC Submission

043247-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.397) question?

Stock #

R5961 (G1)

Quality Score

188

Status

Not validated

Chromosome

Chromosomal Location

30008178-30013728 bp(+) (GRCm39)

Type of Mutation

splice site (38 bp from exon)

DNA Base Change (assembly)

T to A at 30013617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054594] [ENSMUST00000060834] [ENSMUST00000136887] [ENSMUST00000137550] [ENSMUST00000176504] [ENSMUST00000176304] [ENSMUST00000177078] [ENSMUST00000176789]

AlphaFold

Q8K2U2

Predicted Effect

probably benign
Transcript: ENSMUST00000054594

SMART Domains

Protein: ENSMUSP00000055874
Gene: ENSMUSG00000019737

Domain	Start	End	E-Value	Type
Blast:SPEC	96	198	2e-34	BLAST
low complexity region	222	234	N/A	INTRINSIC
low complexity region	290	315	N/A	INTRINSIC
KASH	335	388	2.85e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000060834

SMART Domains

Protein: ENSMUSP00000051515
Gene: ENSMUSG00000042831

Domain	Start	End	E-Value	Type
Pfam:2OG-FeII_Oxy_2	23	224	3.5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135882

Predicted Effect

probably null
Transcript: ENSMUST00000136887

SMART Domains

Protein: ENSMUSP00000121953
Gene: ENSMUSG00000042831

Domain	Start	End	E-Value	Type
Pfam:2OG-FeII_Oxy_2	3	210	2.1e-16	PFAM
Pfam:2OG-FeII_Oxy	82	213	1.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137550

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137870

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139121

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176071

Predicted Effect

probably benign
Transcript: ENSMUST00000176504

SMART Domains

Protein: ENSMUSP00000135844
Gene: ENSMUSG00000019737

Domain	Start	End	E-Value	Type
Blast:SPEC	92	170	2e-33	BLAST
low complexity region	194	206	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176232

Predicted Effect

probably benign
Transcript: ENSMUST00000176304

SMART Domains

Protein: ENSMUSP00000135637
Gene: ENSMUSG00000019737

Domain	Start	End	E-Value	Type
Blast:SPEC	96	196	3e-34	BLAST
low complexity region	197	232	N/A	INTRINSIC
KASH	252	305	2.85e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177395

Predicted Effect

probably benign
Transcript: ENSMUST00000177078

SMART Domains

Protein: ENSMUSP00000135895
Gene: ENSMUSG00000019737

Domain	Start	End	E-Value	Type
Blast:SPEC	88	150	4e-24	BLAST
low complexity region	174	186	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177257

Predicted Effect

probably benign
Transcript: ENSMUST00000176571

Predicted Effect

probably benign
Transcript: ENSMUST00000176789

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	A	G	9: 103,976,338 (GRCm39)	L203P	probably damaging	Het
Aen	C	G	7: 78,556,907 (GRCm39)	H252D	probably damaging	Het
Birc6	T	C	17: 74,953,596 (GRCm39)	V3286A	probably damaging	Het
Cacna1h	A	G	17: 25,596,246 (GRCm39)	M1925T	probably benign	Het
Caprin2	A	C	6: 148,765,038 (GRCm39)	S554R	probably damaging	Het
Celsr3	T	C	9: 108,708,993 (GRCm39)	S1280P	probably damaging	Het
Cfap57	T	C	4: 118,428,942 (GRCm39)	E1008G	probably benign	Het
Csmd1	A	G	8: 16,120,366 (GRCm39)	I1813T	probably damaging	Het
Dnah10	A	G	5: 124,888,546 (GRCm39)	E3050G	probably benign	Het
Dnah2	A	G	11: 69,321,974 (GRCm39)	F3782S	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnajc17	T	C	2: 119,016,527 (GRCm39)	T64A	possibly damaging	Het
Dvl3	T	G	16: 20,349,729 (GRCm39)	S567R	possibly damaging	Het
Epb41l1	T	A	2: 156,363,706 (GRCm39)	S738R	probably benign	Het
Exph5	T	C	9: 53,288,555 (GRCm39)	W1879R	probably damaging	Het
Fam83a	T	A	15: 57,872,992 (GRCm39)	F274I	possibly damaging	Het
Ggt1	A	G	10: 75,421,736 (GRCm39)		probably null	Het
Ido2	C	T	8: 25,023,786 (GRCm39)	V351M	probably damaging	Het
Kcnt2	A	G	1: 140,435,440 (GRCm39)	E469G	possibly damaging	Het
Kdm2b	A	G	5: 123,070,724 (GRCm39)	S403P	probably benign	Het
Klhl2	C	T	8: 65,202,818 (GRCm39)	R460H	probably damaging	Het
Mfsd6l	A	G	11: 68,447,368 (GRCm39)	Y73C	possibly damaging	Het
Mlec	A	T	5: 115,288,159 (GRCm39)	C205*	probably null	Het
Mlx	T	C	11: 100,980,053 (GRCm39)	Y129H	probably damaging	Het
Mmadhc	T	C	2: 50,181,421 (GRCm39)	H83R	probably damaging	Het
Mmp16	T	C	4: 17,853,842 (GRCm39)	F41S	probably benign	Het
Mroh6	G	A	15: 75,759,617 (GRCm39)	Q187*	probably null	Het
Myh14	T	A	7: 44,272,518 (GRCm39)	E1437V	probably damaging	Het
Nrxn1	A	C	17: 90,762,371 (GRCm39)	L37R	probably damaging	Het
Or6c209	T	C	10: 129,483,723 (GRCm39)	M242T	possibly damaging	Het
Pkhd1l1	A	C	15: 44,322,859 (GRCm39)	R48S	probably damaging	Het
Prokr2	A	G	2: 132,215,595 (GRCm39)	Y128H	possibly damaging	Het
Prtg	T	C	9: 72,764,228 (GRCm39)	V567A	probably benign	Het
Rbis	T	C	3: 14,676,124 (GRCm39)	T26A	possibly damaging	Het
Srrm2	G	A	17: 24,039,083 (GRCm39)		probably benign	Het
Stat4	A	T	1: 52,104,543 (GRCm39)	I115L	possibly damaging	Het
Tnxb	G	A	17: 34,937,609 (GRCm39)	V3833M	probably damaging	Het
Ugt2b36	C	T	5: 87,228,724 (GRCm39)		probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Usp47	T	C	7: 111,652,523 (GRCm39)	S47P	probably damaging	Het
Vps53	A	G	11: 75,939,316 (GRCm39)	Y696H	probably damaging	Het
Zfp384	T	C	6: 125,000,997 (GRCm39)	I23T	probably damaging	Het
Zfp804a	A	G	2: 82,088,346 (GRCm39)	Y725C	probably benign	Het

Other mutations in Alkbh6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02673:Alkbh6	APN	7	30,013,536 (GRCm39)	missense	probably damaging	1.00
R0284:Alkbh6	UTSW	7	30,013,413 (GRCm39)	missense	probably benign
R0410:Alkbh6	UTSW	7	30,012,031 (GRCm39)	missense	probably damaging	1.00
R1879:Alkbh6	UTSW	7	30,011,320 (GRCm39)	missense	probably damaging	1.00
R2231:Alkbh6	UTSW	7	30,012,015 (GRCm39)	critical splice acceptor site	probably null
R9663:Alkbh6	UTSW	7	30,013,371 (GRCm39)	missense	probably damaging	0.99
Z1186:Alkbh6	UTSW	7	30,011,719 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATCTCAGCTACCCGTGTGGATG -3'
(R):5'- GGCCCGTCCCATTCATTTAAAG -3'

Sequencing Primer
(F):5'- CTACCCGTGTGGATGAGCTG -3'
(R):5'- GGTTTCCATAGTTACTGGGG -3'

Posted On

2017-03-31