Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03001:Alkbh8'

407364

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03001

Quality Score

Status

Chromosome

Chromosomal Location

3335151-3391154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3344602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 53 (M53L)

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: M128L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000061511
Gene: ENSMUSG00000025899
AA Change: M128L

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: M128L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125996
Gene: ENSMUSG00000025899
AA Change: M128L

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: M128L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000212154
AA Change: M128L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000212294
AA Change: M128L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000212358
AA Change: M128L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000212666
AA Change: M53L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

silent
Transcript: ENSMUST00000212817

Coding Region Coverage

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	C	7: 78,761,042 (GRCm39)	D1918A	probably damaging	Het
Ahcy	C	A	2: 154,906,748 (GRCm39)	D182Y	probably damaging	Het
Aldob	T	G	4: 49,542,844 (GRCm39)	D110A	probably damaging	Het
Aqr	T	C	2: 113,977,400 (GRCm39)	D363G	probably benign	Het
Asxl3	A	G	18: 22,650,455 (GRCm39)	R815G	probably damaging	Het
Atf4	T	A	15: 80,140,858 (GRCm39)	W83R	probably damaging	Het
Baz1a	A	T	12: 54,969,896 (GRCm39)	M587K	possibly damaging	Het
Btbd8	T	C	5: 107,645,708 (GRCm39)	I9T	probably damaging	Het
Cactin	T	A	10: 81,161,568 (GRCm39)	I700N	probably damaging	Het
Catsperg2	T	C	7: 29,424,504 (GRCm39)	S95G	probably benign	Het
Cd1d1	C	T	3: 86,905,468 (GRCm39)	S175N	probably benign	Het
Chd4	C	A	6: 125,078,529 (GRCm39)	A217E	possibly damaging	Het
Cnbd2	T	C	2: 156,175,554 (GRCm39)		probably null	Het
Cntnap5c	G	A	17: 58,362,634 (GRCm39)	C329Y	probably damaging	Het
Col12a1	C	T	9: 79,540,955 (GRCm39)	G2391R	probably damaging	Het
Col5a3	T	A	9: 20,719,040 (GRCm39)	D238V	unknown	Het
Cuedc1	T	C	11: 88,073,315 (GRCm39)	V160A	probably benign	Het
Depdc5	T	C	5: 33,102,434 (GRCm39)	V342A	possibly damaging	Het
Dnah6	T	C	6: 73,126,123 (GRCm39)	D1338G	probably benign	Het
Dpyd	T	C	3: 118,710,891 (GRCm39)	V433A	probably benign	Het
Epb41l5	T	C	1: 119,545,374 (GRCm39)	H179R	probably damaging	Het
Fbf1	T	C	11: 116,056,712 (GRCm39)		probably benign	Het
Flnb	T	C	14: 7,934,680 (GRCm38)	S2251P	probably damaging	Het
Fsip2	A	T	2: 82,820,968 (GRCm39)		probably benign	Het
Grin2b	C	T	6: 135,716,113 (GRCm39)	V735M	probably damaging	Het
Itpr3	T	G	17: 27,308,586 (GRCm39)		probably benign	Het
Lingo4	C	T	3: 94,309,703 (GRCm39)	R214C	probably damaging	Het
Lrp1b	C	T	2: 40,817,901 (GRCm39)	R2329H	probably damaging	Het
Lrrc47	T	C	4: 154,100,450 (GRCm39)	L342P	probably damaging	Het
Mmp15	T	C	8: 96,094,845 (GRCm39)	S240P	probably damaging	Het
Ndufaf4	T	A	4: 24,901,747 (GRCm39)	N95K	probably benign	Het
Nms	C	T	1: 38,980,993 (GRCm39)	P60S	probably benign	Het
Npas3	A	T	12: 53,547,975 (GRCm39)	Y77F	probably damaging	Het
Or2ak7	T	G	11: 58,574,702 (GRCm39)	M1R	probably null	Het
Or51f5	G	T	7: 102,424,460 (GRCm39)	C243F	probably damaging	Het
Or5d43	T	A	2: 88,105,189 (GRCm39)	D68V	probably damaging	Het
Or8d2b	A	G	9: 38,789,374 (GRCm39)	M301V	probably benign	Het
Or9m2	T	A	2: 87,820,493 (GRCm39)	Y13N	probably benign	Het
Or9s27	T	A	1: 92,516,273 (GRCm39)	S74T	probably damaging	Het
Picalm	T	C	7: 89,831,454 (GRCm39)	V429A	probably benign	Het
Pkhd1l1	T	A	15: 44,421,400 (GRCm39)	I3056N	probably damaging	Het
Pomt1	G	T	2: 32,134,338 (GRCm39)	M286I	probably benign	Het
Popdc2	A	T	16: 38,189,881 (GRCm39)	Y176F	probably benign	Het
Psg21	A	T	7: 18,386,410 (GRCm39)	M192K	probably benign	Het
Psma1	C	A	7: 113,865,674 (GRCm39)	A219S	probably benign	Het
Rad21l	T	G	2: 151,510,389 (GRCm39)	H22P	probably damaging	Het
Rnf213	A	G	11: 119,370,767 (GRCm39)	T4791A	probably damaging	Het
Sdk2	A	G	11: 113,712,452 (GRCm39)	V1609A	probably benign	Het
Sema3e	T	A	5: 14,291,057 (GRCm39)	S606T	probably benign	Het
Slc16a4	A	T	3: 107,218,858 (GRCm39)	R486S	possibly damaging	Het
Slc17a3	T	C	13: 24,040,767 (GRCm39)	L331P	probably damaging	Het
Slc38a11	A	T	2: 65,184,159 (GRCm39)	V164D	probably damaging	Het
Slc38a6	A	G	12: 73,383,827 (GRCm39)	I173V	probably benign	Het
Synpo2	T	C	3: 122,873,604 (GRCm39)	T1121A	probably benign	Het
Tfcp2	T	C	15: 100,426,302 (GRCm39)	D83G	possibly damaging	Het
Thnsl1	A	G	2: 21,216,455 (GRCm39)	T70A	probably damaging	Het
Tnfrsf21	A	G	17: 43,398,786 (GRCm39)	I631V	probably damaging	Het
Tor2a	C	A	2: 32,647,329 (GRCm39)	H6Q	possibly damaging	Het
Ttn	T	C	2: 76,565,267 (GRCm39)	N19993S	probably benign	Het
Vps53	T	C	11: 76,029,150 (GRCm39)	E119G	probably damaging	Het
Zkscan6	T	C	11: 65,705,495 (GRCm39)	W69R	probably damaging	Het
Zng1	T	C	19: 24,900,002 (GRCm39)	K301E	probably benign	Het
Zswim8	T	C	14: 20,764,459 (GRCm39)	S610P	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
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
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

Posted On

2016-08-02