Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Alkbh8'

43717

Institutional Source

Beutler Lab

Gene Symbol

Alkbh8

Ensembl Gene

ENSMUSG00000025899

Gene Name

alkB homolog 8, tRNA methyltransferase

Synonyms

4930562C03Rik, Abh8, 9430088N01Rik, 8030431D03Rik

MMRRC Submission

038340-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3335140-3391154 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3343247 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 46 (E46G)

Ref Sequence

ENSEMBL: ENSMUSP00000148467 (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
AA Change: E121G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000061511
Gene: ENSMUSG00000025899
AA Change: E121G

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
AA Change: E121G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000125996
Gene: ENSMUSG00000025899
AA Change: E121G

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

noncoding transcript
Transcript: ENSMUST00000211884

Predicted Effect

probably benign
Transcript: ENSMUST00000211933
AA Change: E121G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212154
AA Change: E121G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000212294
AA Change: E121G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000212358
AA Change: E121G

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212666
AA Change: E46G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212817

Meta Mutation Damage Score

0.1484

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (83/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877	K135*	probably null	Het
Adamts16	A	G	13: 70,763,460	S871P	probably benign	Het
Adcy10	A	T	1: 165,539,834	I558F	probably damaging	Het
Adsl	T	G	15: 80,962,788		probably null	Het
Aldob	T	C	4: 49,543,842	I47V	possibly damaging	Het
Ankrd33b	G	A	15: 31,367,337	P19L	probably damaging	Het
Apoa5	T	C	9: 46,269,998	L124S	probably damaging	Het
Atp1a4	A	T	1: 172,240,097	L533Q	probably benign	Het
Atp7b	T	C	8: 22,059,995	T9A	probably benign	Het
Auh	G	A	13: 52,929,385		probably benign	Het
B3gnt3	T	C	8: 71,692,923	Y267C	probably damaging	Het
BC051142	T	C	17: 34,460,121		probably null	Het
Card11	T	C	5: 140,908,524	T117A	possibly damaging	Het
Ccdc39	A	G	3: 33,844,152	F15L	possibly damaging	Het
Chtf18	C	T	17: 25,723,460	R468Q	probably benign	Het
Cntnap5c	T	G	17: 58,359,300	D1108E	probably benign	Het
Col14a1	G	A	15: 55,408,963		probably benign	Het
Col6a6	C	T	9: 105,748,848		probably benign	Het
Col9a3	G	A	2: 180,609,487	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,959,832		probably benign	Het
Cpt2	A	G	4: 107,904,362		probably null	Het
Crebrf	T	A	17: 26,763,334	L565M	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,782,035		noncoding transcript	Het
Dhx9	C	T	1: 153,472,707	V291M	probably benign	Het
Dmxl1	T	A	18: 49,878,082	V1102E	probably benign	Het
Dnah7a	A	T	1: 53,456,874		probably null	Het
Dock4	G	A	12: 40,737,360		probably benign	Het
Dpp3	G	T	19: 4,914,643	N545K	probably damaging	Het
Elmo2	T	A	2: 165,298,726	N275I	probably damaging	Het
Farp1	A	G	14: 121,255,513	K509R	probably benign	Het
Fat3	T	C	9: 15,965,979	Y3446C	possibly damaging	Het
Fgd2	T	A	17: 29,374,990		probably benign	Het
Flg	T	A	3: 93,277,721		probably benign	Het
Gas2l2	A	T	11: 83,421,910	W859R	probably damaging	Het
Gatm	T	C	2: 122,600,744	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998	I27F	probably damaging	Het
Gsdmc2	C	A	15: 63,827,755		probably benign	Het
Haus5	C	T	7: 30,654,180	V591I	probably benign	Het
Kcnab3	G	A	11: 69,330,227		probably null	Het
Khdrbs2	A	G	1: 32,619,202	D281G	possibly damaging	Het
Krt86	A	T	15: 101,477,402	M393L	probably benign	Het
Limk1	T	C	5: 134,672,761	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,013,155	Y100*	probably null	Het
Mamstr	T	G	7: 45,641,770		probably benign	Het
Man1a	A	G	10: 53,919,187	Y657H	probably damaging	Het
Marf1	G	A	16: 14,111,727	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,683,818	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,525,669	N881I	probably damaging	Het
Nox3	T	C	17: 3,682,961	Y225C	probably benign	Het
Nrp1	C	T	8: 128,500,608		probably benign	Het
Olfr1080	A	G	2: 86,553,632	F164S	probably damaging	Het
Olfr1214	C	T	2: 88,987,349	M284I	probably benign	Het
Olfr1260	C	T	2: 89,978,507	T243I	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr742	T	A	14: 50,516,139	*312K	probably null	Het
Pcdhb13	A	T	18: 37,444,257	M563L	probably benign	Het
Pclo	C	T	5: 14,540,479	T931M	unknown	Het
Peli2	C	T	14: 48,121,202	P16S	possibly damaging	Het
Pfas	G	T	11: 68,990,467	R1025S	probably benign	Het
Pik3c2a	A	T	7: 116,354,072	I1196N	probably damaging	Het
Pmfbp1	A	T	8: 109,535,985		probably benign	Het
Prg4	T	C	1: 150,456,086	T279A	possibly damaging	Het
Psma1	A	T	7: 114,267,205		probably benign	Het
Rab11fip1	A	G	8: 27,153,121	L550P	probably damaging	Het
Rgs12	T	A	5: 34,965,320	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,399,231	H195R	probably damaging	Het
Rnf17	T	C	14: 56,471,373	L750P	probably damaging	Het
Rtcb	T	C	10: 85,957,656	N18D	probably benign	Het
Seh1l	T	C	18: 67,792,016		probably null	Het
Sis	T	G	3: 72,932,094	N813T	probably benign	Het
Sptbn2	T	C	19: 4,745,377		probably benign	Het
Stag3	C	T	5: 138,283,023		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Taok3	C	T	5: 117,272,229	Q829*	probably null	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Ttn	A	G	2: 76,951,542		probably benign	Het
Unc79	A	G	12: 103,125,681	E1756G	probably damaging	Het
Usp35	A	T	7: 97,313,597		probably null	Het
Vmn2r111	A	G	17: 22,548,009	F836L	probably benign	Het
Vmn2r77	A	G	7: 86,801,938	D344G	possibly damaging	Het
Zbtb40	A	G	4: 136,987,278	C1067R	probably damaging	Het

Other mutations in Alkbh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00705:Alkbh8	APN	9	3359588	missense	probably damaging	1.00
IGL01419:Alkbh8	APN	9	3385354	missense	probably damaging	1.00
IGL01457:Alkbh8	APN	9	3369825	missense	probably damaging	1.00
IGL02398:Alkbh8	APN	9	3345870	missense	possibly damaging	0.77
IGL02503:Alkbh8	APN	9	3347852	missense	probably damaging	1.00
IGL02824:Alkbh8	APN	9	3368021	splice site	probably null
IGL03001:Alkbh8	APN	9	3344602	missense	probably benign
IGL03055:Alkbh8	APN	9	3345882	splice site	probably benign
R0046:Alkbh8	UTSW	9	3343247	missense	probably damaging	1.00
R0403:Alkbh8	UTSW	9	3385469	missense	probably damaging	1.00
R1331:Alkbh8	UTSW	9	3347916	splice site	probably null
R1688:Alkbh8	UTSW	9	3382765	missense	probably damaging	1.00
R1859:Alkbh8	UTSW	9	3385499	missense	probably benign	0.07
R2014:Alkbh8	UTSW	9	3343216	nonsense	probably null
R3016:Alkbh8	UTSW	9	3369658	missense	probably benign	0.08
R3722:Alkbh8	UTSW	9	3385153	missense	probably damaging	1.00
R4744:Alkbh8	UTSW	9	3344604	nonsense	probably null
R4840:Alkbh8	UTSW	9	3369751	missense	probably damaging	1.00
R5403:Alkbh8	UTSW	9	3385318	missense	probably benign	0.00
R5644:Alkbh8	UTSW	9	3385384	missense	probably damaging	1.00
R5677:Alkbh8	UTSW	9	3385147	missense	possibly damaging	0.93
R5902:Alkbh8	UTSW	9	3385414	missense	probably benign	0.04
R6293:Alkbh8	UTSW	9	3347841	missense	possibly damaging	0.52
R7352:Alkbh8	UTSW	9	3345796	missense	probably damaging	0.99
R7457:Alkbh8	UTSW	9	3343056	missense	probably damaging	0.99
R7869:Alkbh8	UTSW	9	3359503	missense	probably damaging	1.00
R7887:Alkbh8	UTSW	9	3385343	missense	probably damaging	0.99
R8052:Alkbh8	UTSW	9	3385478	missense	probably damaging	1.00
R8486:Alkbh8	UTSW	9	3344642	missense	probably null	1.00
R8506:Alkbh8	UTSW	9	3335616	unclassified	probably benign
R9178:Alkbh8	UTSW	9	3338448	splice site	probably benign
R9363:Alkbh8	UTSW	9	3385576	missense	probably damaging	1.00
R9512:Alkbh8	UTSW	9	3367959	missense	probably damaging	1.00
R9723:Alkbh8	UTSW	9	3385283	missense	probably benign	0.00
X0028:Alkbh8	UTSW	9	3369767	missense	probably benign	0.01
X0062:Alkbh8	UTSW	9	3359532	missense	probably null	1.00
Z1176:Alkbh8	UTSW	9	3345820	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTAATGGCGTGAGTAGGAAACAACT -3'
(R):5'- ATCCATATTCCCACTAGCAGCAAATCAG -3'

Sequencing Primer
(F):5'- GGAAACAACTGCTTTTGACTTTGG -3'
(R):5'- GGGCTCTTCTCTTCCTACATTAAC -3'

Posted On

2013-05-29