Mutagenetix > Incidental Mutation

Incidental Mutation 'R1859:Alkbh8'

204223

Institutional Source

Beutler Lab

Gene Symbol

Alkbh8

Ensembl Gene

ENSMUSG00000025899

Gene Name

alkB homolog 8, tRNA methyltransferase

Synonyms

Abh8, 8030431D03Rik, 4930562C03Rik, 9430088N01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1859 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3335151-3391154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3385499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 597 (D597G)

Ref Sequence

ENSEMBL: ENSMUSP00000148380 (fasta)

Gene Model

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

AlphaFold

Q80Y20

Predicted Effect

probably benign
Transcript: ENSMUST00000053407
AA Change: D632G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000061511
Gene: ENSMUSG00000025899
AA Change: D632G

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: D632G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000125996
Gene: ENSMUSG00000025899
AA Change: D632G

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
AA Change: D632G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000212294
AA Change: D597G

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000212358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212955

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	C	T	12: 110,637,268 (GRCm39)		probably benign	Het
Adcy10	A	G	1: 165,349,530 (GRCm39)	E467G	probably damaging	Het
Alpk1	T	A	3: 127,474,749 (GRCm39)	H418L	possibly damaging	Het
Ano5	G	T	7: 51,196,581 (GRCm39)	V138L	probably damaging	Het
Aspg	T	A	12: 112,087,606 (GRCm39)	I319K	possibly damaging	Het
Atp9b	T	C	18: 80,793,135 (GRCm39)	T970A	possibly damaging	Het
Brd10	A	C	19: 29,732,323 (GRCm39)	C230G	possibly damaging	Het
C4b	T	A	17: 34,954,527 (GRCm39)	M881L	probably benign	Het
Cd209c	A	T	8: 3,994,953 (GRCm39)	N70K	probably benign	Het
Cdca5	T	C	19: 6,140,124 (GRCm39)	V95A	possibly damaging	Het
Cds2	A	G	2: 132,144,115 (GRCm39)	Y297C	probably damaging	Het
Celsr2	C	T	3: 108,303,946 (GRCm39)	G2371S	probably damaging	Het
Cemip2	T	C	19: 21,825,341 (GRCm39)	V1213A	possibly damaging	Het
Chd5	T	A	4: 152,464,980 (GRCm39)	I1557N	probably benign	Het
Cntn5	C	T	9: 9,972,839 (GRCm39)	E266K	probably damaging	Het
Crtam	G	A	9: 40,884,900 (GRCm39)	T363M	possibly damaging	Het
Dnah2	A	G	11: 69,328,712 (GRCm39)	S3298P	probably damaging	Het
Dok1	A	T	6: 83,009,226 (GRCm39)	Y209N	probably damaging	Het
Dpp10	T	C	1: 123,281,333 (GRCm39)	D561G	possibly damaging	Het
Drosha	A	G	15: 12,878,804 (GRCm39)	K710R	probably benign	Het
Dse	T	C	10: 34,029,225 (GRCm39)	T622A	probably benign	Het
Duxf4	A	G	10: 58,071,602 (GRCm39)	V204A	probably benign	Het
Ercc6	T	C	14: 32,248,735 (GRCm39)	S429P	probably damaging	Het
Fam135a	A	T	1: 24,069,306 (GRCm39)	V521E	probably damaging	Het
Fbxl7	A	T	15: 26,543,279 (GRCm39)	L456Q	probably damaging	Het
Fbxo38	A	G	18: 62,648,489 (GRCm39)	I683T	probably damaging	Het
Foxc2	G	T	8: 121,843,364 (GRCm39)	R4L	probably damaging	Het
Glyctk	C	T	9: 106,034,731 (GRCm39)	V112I	probably benign	Het
Guf1	G	T	5: 69,725,803 (GRCm39)	G481*	probably null	Het
Heatr1	T	C	13: 12,418,040 (GRCm39)	L324S	probably damaging	Het
Hectd1	A	G	12: 51,853,350 (GRCm39)	L57P	probably damaging	Het
Hmcn1	A	T	1: 150,532,944 (GRCm39)	C3080S	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifit1	T	A	19: 34,624,944 (GRCm39)	F27I	probably benign	Het
Ift20	G	T	11: 78,430,860 (GRCm39)	E68*	probably null	Het
Itsn1	A	G	16: 91,686,042 (GRCm39)		probably benign	Het
Ksr2	T	A	5: 117,553,006 (GRCm39)	L38Q	probably damaging	Het
Lama2	A	T	10: 26,907,078 (GRCm39)	M2361K	possibly damaging	Het
Lrrc56	A	G	7: 140,787,421 (GRCm39)	M353V	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map3k9	A	T	12: 81,771,256 (GRCm39)	S800R	possibly damaging	Het
Mef2a	A	G	7: 66,915,766 (GRCm39)	S179P	probably damaging	Het
Micall1	A	G	15: 79,007,145 (GRCm39)		probably benign	Het
Mpg	A	G	11: 32,181,957 (GRCm39)		probably null	Het
Mpp7	A	T	18: 7,350,967 (GRCm39)	*577K	probably null	Het
Msh4	G	T	3: 153,611,517 (GRCm39)	H35Q	probably benign	Het
Mst1	G	A	9: 107,961,545 (GRCm39)	V601I	probably benign	Het
Myh10	T	A	11: 68,636,239 (GRCm39)	N246K	probably benign	Het
Myom3	C	A	4: 135,506,707 (GRCm39)	N493K	probably benign	Het
Mypn	T	C	10: 62,981,969 (GRCm39)	D537G	probably benign	Het
Ncan	A	T	8: 70,567,998 (GRCm39)	M38K	possibly damaging	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm39)	H277Q	probably benign	Het
Nos1	A	T	5: 118,043,527 (GRCm39)	N601Y	possibly damaging	Het
Nrxn2	G	A	19: 6,538,825 (GRCm39)	V794I	probably benign	Het
Or10q12	T	A	19: 13,746,088 (GRCm39)	Y127*	probably null	Het
Or13a17	T	A	7: 140,271,571 (GRCm39)	V251E	possibly damaging	Het
Or13c7b	A	T	4: 43,820,779 (GRCm39)	I194N	possibly damaging	Het
Or2y17	T	C	11: 49,232,211 (GRCm39)	L284P	probably damaging	Het
Or8h9	T	C	2: 86,789,425 (GRCm39)	I126V	probably damaging	Het
Parp4	T	C	14: 56,886,372 (GRCm39)	V1817A	unknown	Het
Pfdn1	C	A	18: 36,584,153 (GRCm39)	M60I	probably benign	Het
Ppp1r3c	T	C	19: 36,711,011 (GRCm39)	N253S	probably damaging	Het
Prdm5	A	G	6: 65,808,263 (GRCm39)	I42V	probably benign	Het
Prom2	T	G	2: 127,383,017 (GRCm39)	Q75P	probably damaging	Het
Ptpn23	T	C	9: 110,217,938 (GRCm39)	D669G	possibly damaging	Het
Rag1	T	C	2: 101,474,407 (GRCm39)	D245G	probably benign	Het
Rpl22l1	T	A	3: 28,860,747 (GRCm39)		probably null	Het
Sars2	T	C	7: 28,443,737 (GRCm39)	V113A	probably damaging	Het
Sbno2	T	A	10: 79,894,473 (GRCm39)	K1067*	probably null	Het
Sec61g	A	G	11: 16,456,371 (GRCm39)		probably null	Het
Slc4a11	A	T	2: 130,529,932 (GRCm39)	M282K	probably benign	Het
Slc5a4a	T	C	10: 76,002,569 (GRCm39)	S242P	probably benign	Het
Sparc	A	T	11: 55,297,334 (GRCm39)		probably null	Het
Thra	T	A	11: 98,646,977 (GRCm39)	C33S	probably damaging	Het
Trrap	A	T	5: 144,767,761 (GRCm39)	T2293S	probably benign	Het
Ttn	T	A	2: 76,724,989 (GRCm39)		probably benign	Het
Vat1l	T	A	8: 114,998,041 (GRCm39)	V195E	probably damaging	Het
Vmn1r60	T	A	7: 5,547,549 (GRCm39)	I184F	possibly damaging	Het
Wdfy4	A	G	14: 32,825,940 (GRCm39)	I1192T	probably damaging	Het
Zbtb10	T	C	3: 9,345,446 (GRCm39)	S737P	possibly damaging	Het
Zfp553	A	G	7: 126,834,517 (GRCm39)	E24G	probably benign	Het
Zscan30	A	G	18: 24,104,524 (GRCm39)		noncoding transcript	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
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
R8506:Alkbh8	UTSW	9	3,335,616 (GRCm39)	unclassified	probably benign
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'- GTCAACTCCAGTAGTATCACCAAG -3'
(R):5'- CGTTTATGAAGTCAGACAACGGG -3'

Sequencing Primer
(F):5'- CTCCAGTAGTATCACCAAGGAAGAAG -3'
(R):5'- GATCGTAATAGCTCTGCAG -3'

Posted On

2014-06-23