Mutagenetix > Incidental Mutation

Incidental Mutation 'R8506:Alkbh8'

655578

Institutional Source

Beutler Lab

Gene Symbol

Alkbh8

Ensembl Gene

ENSMUSG00000025899

Gene Name

alkB homolog 8, tRNA methyltransferase

Synonyms

Abh8, 8030431D03Rik, 4930562C03Rik, 9430088N01Rik

MMRRC Submission

067842-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8506 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3335151-3391154 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 3335616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053407] [ENSMUST00000165105] [ENSMUST00000211933] [ENSMUST00000212154] [ENSMUST00000212294] [ENSMUST00000212358] [ENSMUST00000212666] [ENSMUST00000212817]

AlphaFold

Q80Y20

Predicted Effect

probably benign
Transcript: ENSMUST00000053407

SMART Domains

Protein: ENSMUSP00000061511
Gene: ENSMUSG00000025899

Domain	Start	End	E-Value	Type
Pfam:DUF1891	1	37	4.9e-18	PFAM
RRM	44	116	1.64e-2	SMART
Pfam:2OG-FeII_Oxy_2	136	334	8.7e-27	PFAM
Pfam:2OG-FeII_Oxy	220	336	1.8e-11	PFAM
Pfam:Methyltransf_8	359	522	4.5e-8	PFAM
Pfam:Methyltransf_23	386	534	1e-9	PFAM
Pfam:Methyltransf_31	404	547	3.5e-8	PFAM
Pfam:Methyltransf_25	410	497	1.7e-9	PFAM
Pfam:Methyltransf_11	411	501	5.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165105

SMART Domains

Protein: ENSMUSP00000125996
Gene: ENSMUSG00000025899

Domain	Start	End	E-Value	Type
Pfam:DUF1891	1	37	4.9e-18	PFAM
RRM	44	116	1.64e-2	SMART
Pfam:2OG-FeII_Oxy_2	136	334	1.6e-24	PFAM
Pfam:Methyltransf_8	359	522	4.5e-8	PFAM
Pfam:Methyltransf_25	410	497	1.5e-9	PFAM
Pfam:Methyltransf_11	411	501	1.8e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211933

Predicted Effect

probably benign
Transcript: ENSMUST00000212154

Predicted Effect

probably benign
Transcript: ENSMUST00000212294

Predicted Effect

probably benign
Transcript: ENSMUST00000212358

Predicted Effect

probably benign
Transcript: ENSMUST00000212666

Predicted Effect

probably benign
Transcript: ENSMUST00000212817

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutants show no obvious phenotype at 20 months of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	T	9: 101,820,171 (GRCm39)	E197V	possibly damaging	Het
Ank1	G	A	8: 23,586,851 (GRCm39)	A498T	probably damaging	Het
Antxr1	T	A	6: 87,165,155 (GRCm39)	E427D	possibly damaging	Het
App	A	C	16: 84,879,704 (GRCm39)	V143G	unknown	Het
Bod1l	C	A	5: 41,976,398 (GRCm39)	E1639*	probably null	Het
C2cd2	T	C	16: 97,676,621 (GRCm39)	D122G		Het
Ccdc88b	G	T	19: 6,824,690 (GRCm39)	P1357T	probably damaging	Het
Ccnyl1	A	G	1: 64,753,821 (GRCm39)	T211A	possibly damaging	Het
Cdc25a	T	C	9: 109,720,820 (GRCm39)	Y434H	probably damaging	Het
Ceacam16	C	A	7: 19,586,195 (GRCm39)	A106S	unknown	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Chpf2	T	C	5: 24,793,295 (GRCm39)	L87P	probably damaging	Het
Col5a2	A	T	1: 45,481,944 (GRCm39)	I60N	unknown	Het
Cux1	T	A	5: 136,337,358 (GRCm39)	E718V	probably damaging	Het
Dchs2	A	T	3: 83,208,481 (GRCm39)	I1845L	probably benign	Het
Disp3	C	T	4: 148,326,027 (GRCm39)	V1244I	possibly damaging	Het
Dnah8	T	C	17: 30,940,108 (GRCm39)	S1685P	probably benign	Het
Etnppl	G	A	3: 130,423,122 (GRCm39)	V274I	possibly damaging	Het
Evc2	T	C	5: 37,540,486 (GRCm39)	S561P	probably damaging	Het
Fga	A	G	3: 82,940,623 (GRCm39)	E759G	probably damaging	Het
Gdpd5	T	C	7: 99,103,157 (GRCm39)	F372S	probably benign	Het
Gpr155	T	C	2: 73,173,806 (GRCm39)	T868A	probably damaging	Het
Herc1	A	G	9: 66,380,863 (GRCm39)	D3580G	possibly damaging	Het
Hmbs	A	G	9: 44,252,921 (GRCm39)		probably null	Het
Ibsp	A	T	5: 104,457,947 (GRCm39)	E161D	probably damaging	Het
Ighv8-4	A	G	12: 114,987,728 (GRCm39)	V90A	possibly damaging	Het
Itpr2	A	G	6: 146,319,914 (GRCm39)		probably null	Het
Kcnc2	T	A	10: 112,291,537 (GRCm39)	F242I	probably damaging	Het
Kcnj5	A	G	9: 32,233,628 (GRCm39)	I229T	probably damaging	Het
Lamb1	A	T	12: 31,379,360 (GRCm39)	L1791F	probably damaging	Het
Med6	A	T	12: 81,641,734 (GRCm39)	M1K	probably null	Het
Mei4	A	G	9: 81,861,291 (GRCm39)	D294G	probably benign	Het
Nat10	T	C	2: 103,562,582 (GRCm39)	I585V	probably benign	Het
Nid1	T	C	13: 13,650,759 (GRCm39)	V432A	probably damaging	Het
Nlrp4c	G	T	7: 6,103,775 (GRCm39)	G903V	possibly damaging	Het
Nrf1	G	A	6: 30,126,256 (GRCm39)	A416T	probably benign	Het
Nsl1	G	C	1: 190,808,832 (GRCm39)	C173S	unknown	Het
Obsl1	G	A	1: 75,482,300 (GRCm39)	A190V	probably benign	Het
Or13a22	G	A	7: 140,073,336 (GRCm39)	V262I	probably benign	Het
Or51f1d	T	A	7: 102,700,709 (GRCm39)	M68K	probably damaging	Het
Or5b3	A	G	19: 13,388,604 (GRCm39)	T224A	possibly damaging	Het
Or5w8	A	T	2: 87,688,181 (GRCm39)	I221F	probably damaging	Het
Or8k3	A	G	2: 86,058,922 (GRCm39)	L131P	possibly damaging	Het
Or8k38	T	C	2: 86,488,745 (GRCm39)	D19G	probably benign	Het
Osbpl1a	G	A	18: 12,901,643 (GRCm39)	T621I	probably benign	Het
Pabpc4l	G	A	3: 46,400,832 (GRCm39)	R271*	probably null	Het
Paics	A	T	5: 77,112,437 (GRCm39)	D307V	possibly damaging	Het
Pcdhga9	A	G	18: 37,871,737 (GRCm39)	D522G	probably damaging	Het
Pclo	T	A	5: 14,590,759 (GRCm39)	C1020S	unknown	Het
Pfkfb4	T	G	9: 108,834,667 (GRCm39)	D113E	possibly damaging	Het
Plod3	A	G	5: 137,017,830 (GRCm39)	Y202C	probably damaging	Het
Pmp22	T	A	11: 63,049,090 (GRCm39)	M111K	probably damaging	Het
Pole2	A	C	12: 69,255,734 (GRCm39)	S344A	probably benign	Het
Pom121l2	A	G	13: 22,167,789 (GRCm39)	T687A	probably benign	Het
Psmd6	A	G	14: 14,114,181 (GRCm38)	S313P	probably damaging	Het
Rd3	T	G	1: 191,715,228 (GRCm39)	M1R	probably null	Het
Rtn4ip1	G	A	10: 43,804,352 (GRCm39)	V235I	probably benign	Het
Senp5	T	C	16: 31,787,719 (GRCm39)	I635V	probably damaging	Het
Stox2	T	C	8: 47,645,108 (GRCm39)	E784G	possibly damaging	Het
Syce2	A	T	8: 85,613,795 (GRCm39)	D168V	probably benign	Het
Taar6	A	G	10: 23,861,529 (GRCm39)	S6P	probably benign	Het
Tbc1d16	A	C	11: 119,039,784 (GRCm39)	H675Q	probably damaging	Het
Tmem151b	A	T	17: 45,856,327 (GRCm39)	I371N	probably damaging	Het
Trim31	A	T	17: 37,218,150 (GRCm39)		probably null	Het
Usp48	A	G	4: 137,338,029 (GRCm39)	Y268C	probably damaging	Het
Vmn2r11	A	G	5: 109,207,270 (GRCm39)	S17P	probably benign	Het
Vmn2r110	T	A	17: 20,804,627 (GRCm39)	N98Y	probably benign	Het
Vps13b	T	A	15: 35,446,891 (GRCm39)	D515E	probably benign	Het
Yeats2	T	G	16: 19,971,684 (GRCm39)	I42M	probably damaging	Het

Other mutations in Alkbh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00705:Alkbh8	APN	9	3,359,588 (GRCm39)	missense	probably damaging	1.00
IGL01419:Alkbh8	APN	9	3,385,354 (GRCm39)	missense	probably damaging	1.00
IGL01457:Alkbh8	APN	9	3,369,825 (GRCm39)	missense	probably damaging	1.00
IGL02398:Alkbh8	APN	9	3,345,870 (GRCm39)	missense	possibly damaging	0.77
IGL02503:Alkbh8	APN	9	3,347,852 (GRCm39)	missense	probably damaging	1.00
IGL02824:Alkbh8	APN	9	3,368,021 (GRCm39)	splice site	probably null
IGL03001:Alkbh8	APN	9	3,344,602 (GRCm39)	missense	probably benign
IGL03055:Alkbh8	APN	9	3,345,882 (GRCm39)	splice site	probably benign
R0046:Alkbh8	UTSW	9	3,343,247 (GRCm39)	missense	probably damaging	1.00
R0046:Alkbh8	UTSW	9	3,343,247 (GRCm39)	missense	probably damaging	1.00
R0403:Alkbh8	UTSW	9	3,385,469 (GRCm39)	missense	probably damaging	1.00
R1331:Alkbh8	UTSW	9	3,347,916 (GRCm39)	splice site	probably null
R1688:Alkbh8	UTSW	9	3,382,765 (GRCm39)	missense	probably damaging	1.00
R1859:Alkbh8	UTSW	9	3,385,499 (GRCm39)	missense	probably benign	0.07
R2014:Alkbh8	UTSW	9	3,343,216 (GRCm39)	nonsense	probably null
R3016:Alkbh8	UTSW	9	3,369,658 (GRCm39)	missense	probably benign	0.08
R3722:Alkbh8	UTSW	9	3,385,153 (GRCm39)	missense	probably damaging	1.00
R4744:Alkbh8	UTSW	9	3,344,604 (GRCm39)	nonsense	probably null
R4840:Alkbh8	UTSW	9	3,369,751 (GRCm39)	missense	probably damaging	1.00
R5403:Alkbh8	UTSW	9	3,385,318 (GRCm39)	missense	probably benign	0.00
R5644:Alkbh8	UTSW	9	3,385,384 (GRCm39)	missense	probably damaging	1.00
R5677:Alkbh8	UTSW	9	3,385,147 (GRCm39)	missense	possibly damaging	0.93
R5902:Alkbh8	UTSW	9	3,385,414 (GRCm39)	missense	probably benign	0.04
R6293:Alkbh8	UTSW	9	3,347,841 (GRCm39)	missense	possibly damaging	0.52
R7352:Alkbh8	UTSW	9	3,345,796 (GRCm39)	missense	probably damaging	0.99
R7457:Alkbh8	UTSW	9	3,343,056 (GRCm39)	missense	probably damaging	0.99
R7869:Alkbh8	UTSW	9	3,359,503 (GRCm39)	missense	probably damaging	1.00
R7887:Alkbh8	UTSW	9	3,385,343 (GRCm39)	missense	probably damaging	0.99
R8052:Alkbh8	UTSW	9	3,385,478 (GRCm39)	missense	probably damaging	1.00
R8486:Alkbh8	UTSW	9	3,344,642 (GRCm39)	missense	probably null	1.00
R9178:Alkbh8	UTSW	9	3,338,448 (GRCm39)	splice site	probably benign
R9363:Alkbh8	UTSW	9	3,385,576 (GRCm39)	missense	probably damaging	1.00
R9512:Alkbh8	UTSW	9	3,367,959 (GRCm39)	missense	probably damaging	1.00
R9723:Alkbh8	UTSW	9	3,385,283 (GRCm39)	missense	probably benign	0.00
X0028:Alkbh8	UTSW	9	3,369,767 (GRCm39)	missense	probably benign	0.01
X0062:Alkbh8	UTSW	9	3,359,532 (GRCm39)	missense	probably null	1.00
Z1176:Alkbh8	UTSW	9	3,345,820 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGTTTACAGACATTTGGCG -3'
(R):5'- AAGGACATTAGATCCTACCAGGG -3'

Sequencing Primer
(F):5'- GTCAACAAAGAATTTGAGTCCCG -3'
(R):5'- GACATTAGATCCTACCAGGGTTCCC -3'

Posted On

2020-10-20