Mutagenetix > Incidental Mutation

Incidental Mutation 'R6551:Alkbh7'

521654

Institutional Source

Beutler Lab

Gene Symbol

Alkbh7

Ensembl Gene

ENSMUSG00000002661

Gene Name

alkB homolog 7

Synonyms

Abh7, 2510008E23Rik, Spata11, 2310045B01Rik

MMRRC Submission

044676-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R6551 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57304339-57306322 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 57305945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 115 (Y115*)

Ref Sequence

ENSEMBL: ENSMUSP00000073775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002733] [ENSMUST00000002735] [ENSMUST00000002737] [ENSMUST00000002740] [ENSMUST00000074141]

AlphaFold

Q9D6Z0

Predicted Effect

probably benign
Transcript: ENSMUST00000002733

SMART Domains

Protein: ENSMUSP00000002733
Gene: ENSMUSG00000002658

Domain	Start	End	E-Value	Type
Pfam:TFIIF_alpha	2	508	2.6e-200	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000002735

SMART Domains

Protein: ENSMUSP00000002735
Gene: ENSMUSG00000002660

Domain	Start	End	E-Value	Type
Pfam:CLP_protease	63	244	8.8e-82	PFAM
low complexity region	259	270	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000002737
AA Change: Y173*

SMART Domains

Protein: ENSMUSP00000002737
Gene: ENSMUSG00000002661
AA Change: Y173*

Domain	Start	End	E-Value	Type
Pfam:2OG-FeII_Oxy_2	64	203	8.2e-14	PFAM
low complexity region	206	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000002740

SMART Domains

Protein: ENSMUSP00000002740
Gene: ENSMUSG00000002664

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TGFB	66	155	1.24e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000074141
AA Change: Y115*

SMART Domains

Protein: ENSMUSP00000073775
Gene: ENSMUSG00000002661
AA Change: Y115*

Domain	Start	End	E-Value	Type
Pfam:2OG-FeII_Oxy_2	63	145	3.8e-12	PFAM
low complexity region	148	161	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149632

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	T	1: 192,856,831 (GRCm39)	Q61L	probably damaging	Het
Acss2	T	C	2: 155,393,128 (GRCm39)	S285P	probably benign	Het
Ager	A	G	17: 34,818,442 (GRCm39)		probably null	Het
Brwd1	T	C	16: 95,795,162 (GRCm39)	D2184G	possibly damaging	Het
Chp1	T	A	2: 119,402,294 (GRCm39)	H89Q	possibly damaging	Het
Clmp	T	C	9: 40,682,573 (GRCm39)	V119A	probably benign	Het
Cryge	A	T	1: 65,087,796 (GRCm39)	M171K	probably benign	Het
Cttnbp2nl	A	T	3: 104,912,433 (GRCm39)	S484T	possibly damaging	Het
Dsg3	C	A	18: 20,672,968 (GRCm39)	P880T	unknown	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Espn	T	C	4: 152,213,223 (GRCm39)			Het
Fbxo31	A	C	8: 122,291,443 (GRCm39)		probably benign	Het
Grin2b	A	G	6: 135,710,342 (GRCm39)	V1068A	probably damaging	Het
Jak1	C	A	4: 101,051,040 (GRCm39)		probably benign	Het
Klra10	A	T	6: 130,252,718 (GRCm39)	D185E	probably benign	Het
Lhx1	A	C	11: 84,412,739 (GRCm39)	D60E	probably benign	Het
Lyar	C	A	5: 38,390,616 (GRCm39)	A326D	probably damaging	Het
Muc16	A	C	9: 18,473,858 (GRCm39)	S1280A	possibly damaging	Het
Nol9	G	A	4: 152,136,325 (GRCm39)	V466I	possibly damaging	Het
Or10d1	C	A	9: 39,483,856 (GRCm39)	R233L	probably benign	Het
Or12e8	T	C	2: 87,677,005 (GRCm39)	V130A	possibly damaging	Het
Or1e17	T	C	11: 73,831,129 (GRCm39)	I19T	probably benign	Het
Or1o1	G	A	17: 37,716,796 (GRCm39)	R119H	probably benign	Het
Or2w3b	A	T	11: 58,623,583 (GRCm39)	M136K	probably damaging	Het
Or2y10	G	T	11: 49,454,816 (GRCm39)	V23L	probably benign	Het
Pik3c2a	A	T	7: 116,016,731 (GRCm39)	I342N	probably damaging	Het
Pnldc1	A	G	17: 13,124,456 (GRCm39)	M133T	probably damaging	Het
Rab11fip1	G	A	8: 27,646,512 (GRCm39)	S188L	probably damaging	Het
Rapgef2	A	T	3: 79,122,342 (GRCm39)		probably null	Het
Rnf103	G	A	6: 71,487,349 (GRCm39)	C660Y	probably damaging	Het
Rph3al	G	A	11: 75,797,372 (GRCm39)	S108F	possibly damaging	Het
Srsf7	A	C	17: 80,511,648 (GRCm39)		probably benign	Het
Ssrp1	A	G	2: 84,871,450 (GRCm39)		probably null	Het
Tamm41	T	C	6: 114,989,142 (GRCm39)	D284G	possibly damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem39b	A	G	4: 129,585,896 (GRCm39)	V25A	probably benign	Het
Tmem88b	G	T	4: 155,870,149 (GRCm39)		probably benign	Het
Unk	T	C	11: 115,941,550 (GRCm39)	W266R	probably damaging	Het
Usp8	T	A	2: 126,575,102 (GRCm39)		probably benign	Het
Zbtb48	T	G	4: 152,106,678 (GRCm39)	Q142P	probably benign	Het
Zdhhc18	T	C	4: 133,340,960 (GRCm39)	T267A	probably benign	Het
Zfp335	G	A	2: 164,751,285 (GRCm39)	P94S	probably benign	Het

Other mutations in Alkbh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Alkbh7	APN	17	57,304,470 (GRCm39)	splice site	probably null
R0462:Alkbh7	UTSW	17	57,305,443 (GRCm39)	missense	probably benign	0.19
R0545:Alkbh7	UTSW	17	57,306,012 (GRCm39)	nonsense	probably null
R5480:Alkbh7	UTSW	17	57,306,131 (GRCm39)	utr 3 prime	probably benign
R5608:Alkbh7	UTSW	17	57,305,446 (GRCm39)	missense	probably damaging	1.00
R6489:Alkbh7	UTSW	17	57,305,979 (GRCm39)	missense	probably damaging	0.99
R6811:Alkbh7	UTSW	17	57,304,392 (GRCm39)	missense	probably benign	0.31
R7219:Alkbh7	UTSW	17	57,305,508 (GRCm39)	missense	probably damaging	1.00
R7620:Alkbh7	UTSW	17	57,304,551 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACACAGGAACCTGAGCAGTG -3'
(R):5'- AGATCCCATGACAGCATTTTCCC -3'

Sequencing Primer
(F):5'- AACTGTTGCTGGAGCCAG -3'
(R):5'- CCCTACTTTATTCACAAATATGGAGG -3'

Posted On

2018-06-06