Mutagenetix > Incidental Mutation

Incidental Mutation 'R7758:Alkbh5'

597684

Institutional Source

Beutler Lab

Gene Symbol

Alkbh5

Ensembl Gene

ENSMUSG00000042650

Gene Name

alkB homolog 5, RNA demethylase

Synonyms

Ofoxd, Abh5

MMRRC Submission

045814-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.276) question?

Stock #

R7758 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60428509-60449338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 60429903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 219 (V219M)

Ref Sequence

ENSEMBL: ENSMUSP00000049116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044250]

AlphaFold

Q3TSG4

Predicted Effect

probably damaging
Transcript: ENSMUST00000044250
AA Change: V219M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049116
Gene: ENSMUSG00000042650
AA Change: V219M

Domain	Start	End	E-Value	Type
SCOP:d1gkub1	25	68	7e-5	SMART
Pfam:2OG-FeII_Oxy_2	94	313	1.7e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (48/50)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced male fertility associated with oligo- and teratozoopermia and male germ cell apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,921,816 (GRCm39)	D1124G	probably damaging	Het
Actr10	A	G	12: 70,989,100 (GRCm39)	H73R	probably damaging	Het
Ak9	G	T	10: 41,223,128 (GRCm39)	A424S		Het
Ankrd60	T	C	2: 173,410,562 (GRCm39)	*319W	probably null	Het
Bfar	T	C	16: 13,519,985 (GRCm39)	F406S	possibly damaging	Het
Brd4	A	G	17: 32,417,956 (GRCm39)	I1157T	unknown	Het
Card6	G	A	15: 5,129,378 (GRCm39)	Q673*	probably null	Het
Cdyl	T	A	13: 36,056,624 (GRCm39)	Y585N	probably damaging	Het
Cep192	A	C	18: 67,989,384 (GRCm39)	I1844L	possibly damaging	Het
Colec11	A	C	12: 28,645,241 (GRCm39)		probably null	Het
Crh	T	A	3: 19,748,453 (GRCm39)	Y63F	probably damaging	Het
Dmbt1	C	T	7: 130,722,926 (GRCm39)	H1946Y	unknown	Het
Dock4	C	T	12: 40,760,878 (GRCm39)	T522I	probably benign	Het
Fstl4	C	A	11: 53,059,123 (GRCm39)	D527E	possibly damaging	Het
Gm17019	A	G	5: 15,079,300 (GRCm39)	*256Q	probably null	Het
Gm5460	A	T	14: 33,757,114 (GRCm39)	T64S	probably benign	Het
H3c13	A	G	3: 96,176,203 (GRCm39)	K65R	possibly damaging	Het
Hoxa9	A	T	6: 52,202,542 (GRCm39)	N181K	probably benign	Het
Ift81	A	T	5: 122,689,088 (GRCm39)	L676H	probably damaging	Het
Klhl35	C	T	7: 99,122,425 (GRCm39)	T87I	unknown	Het
Kmt2e	A	G	5: 23,701,068 (GRCm39)	T761A	possibly damaging	Het
Lca5l	C	T	16: 95,980,037 (GRCm39)	R36H	probably benign	Het
Lin7c	T	A	2: 109,726,717 (GRCm39)	I122K	probably damaging	Het
Malt1	A	G	18: 65,606,190 (GRCm39)	I622V	probably benign	Het
Megf8	T	C	7: 25,041,850 (GRCm39)		probably null	Het
Morc2b	A	G	17: 33,355,981 (GRCm39)	V597A	probably damaging	Het
Or10d4	T	C	9: 39,580,371 (GRCm39)	M6T	probably benign	Het
Or4c120	T	A	2: 89,001,485 (GRCm39)	I24L	probably benign	Het
Or8g2	T	G	9: 39,821,621 (GRCm39)	I174S	possibly damaging	Het
Pdlim1	G	A	19: 40,231,986 (GRCm39)	P131S	probably benign	Het
Plekhh1	T	C	12: 79,117,578 (GRCm39)	I858T	probably benign	Het
Pls1	T	C	9: 95,658,897 (GRCm39)	N197S	probably benign	Het
Pnma8a	A	T	7: 16,695,224 (GRCm39)	T360S	probably benign	Het
Pon1	A	T	6: 5,168,344 (GRCm39)	D354E	probably benign	Het
Prss43	G	A	9: 110,658,459 (GRCm39)	G253E	possibly damaging	Het
Rbp3	G	A	14: 33,676,732 (GRCm39)	V227M	probably benign	Het
Slc22a15	A	G	3: 101,805,251 (GRCm39)		probably null	Het
Slc7a11	A	G	3: 50,326,809 (GRCm39)	I484T	probably benign	Het
Snrpa	A	G	7: 26,892,371 (GRCm39)	V63A	possibly damaging	Het
Sphk1	A	G	11: 116,427,063 (GRCm39)	R340G	possibly damaging	Het
Strc	T	C	2: 121,201,427 (GRCm39)	E1259G	probably benign	Het
Suds3	T	G	5: 117,253,802 (GRCm39)	D26A	unknown	Het
Taok3	A	G	5: 117,388,972 (GRCm39)	E459G	probably damaging	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unc13b	AGCCAG	AGCCAGCGCCAG	4: 43,177,344 (GRCm39)		probably benign	Het
Vmn1r201	A	G	13: 22,658,989 (GRCm39)	T68A	not run	Het
Wdr59	T	A	8: 112,207,117 (GRCm39)	I534F		Het
Ylpm1	A	G	12: 85,061,796 (GRCm39)	I566V	unknown	Het
Zbtb4	A	G	11: 69,669,368 (GRCm39)	E697G	probably benign	Het
Zcchc14	T	C	8: 122,331,428 (GRCm39)	K645R	unknown	Het
Zfp704	C	T	3: 9,509,282 (GRCm39)	V388M	possibly damaging	Het
Zfp994	T	C	17: 22,419,828 (GRCm39)	T374A	possibly damaging	Het

Other mutations in Alkbh5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0346:Alkbh5	UTSW	11	60,429,567 (GRCm39)	missense	possibly damaging	0.50
R1464:Alkbh5	UTSW	11	60,429,873 (GRCm39)	missense	probably benign	0.38
R1464:Alkbh5	UTSW	11	60,429,873 (GRCm39)	missense	probably benign	0.38
R2020:Alkbh5	UTSW	11	60,429,375 (GRCm39)	missense	probably benign	0.03
R4824:Alkbh5	UTSW	11	60,444,697 (GRCm39)	critical splice donor site	probably null
R5367:Alkbh5	UTSW	11	60,429,529 (GRCm39)	missense	possibly damaging	0.58
R5979:Alkbh5	UTSW	11	60,429,517 (GRCm39)	missense	probably damaging	1.00
R6132:Alkbh5	UTSW	11	60,428,821 (GRCm39)	start gained	probably benign
R6902:Alkbh5	UTSW	11	60,429,381 (GRCm39)	missense	probably benign	0.03
R7516:Alkbh5	UTSW	11	60,429,979 (GRCm39)	missense	probably damaging	1.00
R7554:Alkbh5	UTSW	11	60,429,415 (GRCm39)	missense	probably benign	0.00
R8038:Alkbh5	UTSW	11	60,429,811 (GRCm39)	missense	probably damaging	1.00
R9058:Alkbh5	UTSW	11	60,444,548 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- CAACAAGTACTTCTTCGGCGAGG -3'
(R):5'- TGGACACTTTTAGGCGGCAG -3'

Sequencing Primer
(F):5'- TACTTCTTCGGCGAGGGCTAC -3'
(R):5'- CTTTTAGGCGGCAGGGTGC -3'

Posted On

2019-11-26