Mutagenetix > Incidental Mutation

Incidental Mutation 'R3722:Alkbh8'

258971

Institutional Source

Beutler Lab

Gene Symbol

Alkbh8

Ensembl Gene

ENSMUSG00000025899

Gene Name

alkB homolog 8, tRNA methyltransferase

Synonyms

Abh8, 8030431D03Rik, 4930562C03Rik, 9430088N01Rik

MMRRC Submission

040713-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3722 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3335151-3391154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3385153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 482 (Y482H)

Ref Sequence

ENSEMBL: ENSMUSP00000148380 (fasta)

Gene Model

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

AlphaFold

Q80Y20

Predicted Effect

probably damaging
Transcript: ENSMUST00000053407
AA Change: Y517H

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

SMART Domains

Protein: ENSMUSP00000061511
Gene: ENSMUSG00000025899
AA Change: Y517H

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 damaging
Transcript: ENSMUST00000165105
AA Change: Y517H

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

SMART Domains

Protein: ENSMUSP00000125996
Gene: ENSMUSG00000025899
AA Change: Y517H

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 damaging
Transcript: ENSMUST00000211933
AA Change: Y517H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000212294
AA Change: Y482H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212955

Meta Mutation Damage Score

0.1841

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (61/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	T	10: 10,216,254 (GRCm39)	S1485T	probably benign	Het
Akap9	A	G	5: 4,120,351 (GRCm39)	Y3589C	probably damaging	Het
Appl1	G	A	14: 26,649,801 (GRCm39)	T575M	probably damaging	Het
Arhgap21	T	C	2: 20,855,102 (GRCm39)	E1420G	probably damaging	Het
Asic3	A	T	5: 24,621,997 (GRCm39)	Y419F	probably benign	Het
Atg7	A	G	6: 114,672,624 (GRCm39)	Y279C	probably damaging	Het
Braf	G	A	6: 39,600,610 (GRCm39)	P616L	probably damaging	Het
Btnl2	T	C	17: 34,577,109 (GRCm39)	M88T	possibly damaging	Het
C1rb	T	A	6: 124,557,620 (GRCm39)	Y586N	probably damaging	Het
Cacna1s	T	C	1: 135,996,780 (GRCm39)	F127S	possibly damaging	Het
Cd47	A	G	16: 49,688,205 (GRCm39)	I42V	probably benign	Het
Cox8b	T	A	7: 140,478,918 (GRCm39)	K66*	probably null	Het
Diras2	T	A	13: 52,662,059 (GRCm39)	I83F	probably damaging	Het
Dlg2	T	A	7: 91,361,008 (GRCm39)		probably null	Het
Dnah8	G	A	17: 31,073,872 (GRCm39)	R4514H	probably damaging	Het
Dnai1	G	A	4: 41,602,615 (GRCm39)	R113H	probably damaging	Het
Dolpp1	T	C	2: 30,287,500 (GRCm39)	L204P	probably damaging	Het
Fam170a	C	T	18: 50,415,271 (GRCm39)	P306S	probably benign	Het
Fbxl12	A	T	9: 20,550,268 (GRCm39)		probably null	Het
Fndc3a	T	A	14: 72,777,648 (GRCm39)	I1186F	probably benign	Het
Gm12886	T	A	4: 121,274,667 (GRCm39)	D71V	probably damaging	Het
H3c8	T	C	13: 23,719,722 (GRCm39)	V36A	possibly damaging	Het
Ica1	A	G	6: 8,659,021 (GRCm39)		probably benign	Het
Ighv8-11	A	G	12: 115,530,771 (GRCm39)	I119T	possibly damaging	Het
Ism1	A	T	2: 139,573,931 (GRCm39)	R94*	probably null	Het
Kbtbd11	T	A	8: 15,079,118 (GRCm39)	C572*	probably null	Het
Kcnk15	T	C	2: 163,700,214 (GRCm39)	L132P	probably damaging	Het
Lrmda	T	A	14: 22,077,399 (GRCm39)		probably benign	Het
Mei1	A	G	15: 81,987,405 (GRCm39)	H399R	possibly damaging	Het
Mrtfb	C	T	16: 13,203,557 (GRCm39)	A201V	probably damaging	Het
Ncstn	G	A	1: 171,895,462 (GRCm39)	T562M	possibly damaging	Het
Nudt4	A	T	10: 95,385,367 (GRCm39)		probably null	Het
Omp	T	C	7: 97,794,420 (GRCm39)	N69S	probably benign	Het
Or10d3	A	C	9: 39,461,418 (GRCm39)	C250G	probably damaging	Het
Or4a75	A	T	2: 89,448,503 (GRCm39)	I11N	possibly damaging	Het
Pak1	C	T	7: 97,503,704 (GRCm39)	P13L	probably damaging	Het
Pde4d	T	A	13: 110,087,866 (GRCm39)	C744*	probably null	Het
Pelp1	T	C	11: 70,289,026 (GRCm39)	Y240C	possibly damaging	Het
Pou2f1	G	C	1: 165,722,538 (GRCm39)	P349R	probably damaging	Het
Ptprk	A	G	10: 28,259,619 (GRCm39)	D353G	probably damaging	Het
Ptprs	A	G	17: 56,724,485 (GRCm39)	F1152S	probably damaging	Het
Rnf135	G	T	11: 80,087,743 (GRCm39)	A231S	probably benign	Het
Rpn1	G	A	6: 88,067,282 (GRCm39)		probably null	Het
Rreb1	T	A	13: 38,131,074 (GRCm39)	D1409E	probably benign	Het
Sipa1l2	G	A	8: 126,200,323 (GRCm39)	H668Y	probably damaging	Het
Slc35a5	A	T	16: 44,967,685 (GRCm39)	I138N	probably damaging	Het
Slc35d1	T	C	4: 103,065,321 (GRCm39)	K187E	possibly damaging	Het
Slc44a2	A	T	9: 21,254,273 (GRCm39)	I212F	possibly damaging	Het
Slc7a1	G	A	5: 148,272,343 (GRCm39)	R445*	probably null	Het
Snapc4	A	G	2: 26,255,440 (GRCm39)	L1028P	probably benign	Het
Snrnp40	C	T	4: 130,262,068 (GRCm39)	T152I	possibly damaging	Het
Spata31f1a	T	C	4: 42,851,472 (GRCm39)	E228G	probably benign	Het
Spink4	T	A	4: 40,929,136 (GRCm39)	C54S	probably damaging	Het
Tex2	C	T	11: 106,437,566 (GRCm39)	W203*	probably null	Het
Tmcc1	T	C	6: 116,110,783 (GRCm39)	E170G	possibly damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ttll6	A	G	11: 96,024,747 (GRCm39)	N46D	probably benign	Het
Txk	T	A	5: 72,865,078 (GRCm39)	K266*	probably null	Het
Uggt2	T	C	14: 119,278,930 (GRCm39)	E859G	probably damaging	Het
Uros	A	T	7: 133,304,120 (GRCm39)	M1K	probably null	Het
Vps13b	T	A	15: 35,671,528 (GRCm39)	I1677N	probably damaging	Het
Zbtb5	A	G	4: 44,994,863 (GRCm39)		probably null	Het
Zfp760	A	G	17: 21,941,143 (GRCm39)	Y106C	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
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'- TTTTGAGCACCAGCAAACAG -3'
(R):5'- CTTGGGAATGAAAGCAGGTCC -3'

Sequencing Primer
(F):5'- TTTGAGCACCAGCAAACAGTTATAC -3'
(R):5'- TGAATAGGGAGTTCAGAATTAGGAAC -3'

Posted On

2015-01-23