Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00479:Antkmt'

13463

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Antkmt

Ensembl Gene

ENSMUSG00000057411

Gene Name

adenine nucleotide translocase lysine methyltransferase

Synonyms

Fam173a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00479

Quality Score

Status

Chromosome

Chromosomal Location

26009474-26011761 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26010418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 104 (Y104H)

Ref Sequence

ENSEMBL: ENSMUSP00000072518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002344] [ENSMUST00000072735] [ENSMUST00000095500] [ENSMUST00000165838]

AlphaFold

Q501J2

Predicted Effect

probably benign
Transcript: ENSMUST00000002344

SMART Domains

Protein: ENSMUSP00000002344
Gene: ENSMUSG00000002274

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000072735
AA Change: Y104H

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

SMART Domains

Protein: ENSMUSP00000072518
Gene: ENSMUSG00000057411
AA Change: Y104H

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
SCOP:d1f3la_	65	141	2e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095500

SMART Domains

Protein: ENSMUSP00000093155
Gene: ENSMUSG00000071202

Domain	Start	End	E-Value	Type
Pfam:DUF4472	63	190	5.5e-23	PFAM
coiled coil region	364	408	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165838

SMART Domains

Protein: ENSMUSP00000127275
Gene: ENSMUSG00000002274

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	C	4: 156,255,029 (GRCm39)		probably benign	Het
Arid4a	A	G	12: 71,119,367 (GRCm39)	K651E	probably damaging	Het
Atpaf2	A	T	11: 60,300,410 (GRCm39)		probably null	Het
Cd177	G	T	7: 24,457,440 (GRCm39)	S200R	probably benign	Het
Cd209g	A	T	8: 4,185,622 (GRCm39)	T19S	probably benign	Het
Cxcr4	A	G	1: 128,516,792 (GRCm39)	W290R	probably damaging	Het
D930020B18Rik	T	C	10: 121,521,489 (GRCm39)	L491P	probably damaging	Het
Dnah7a	T	C	1: 53,458,843 (GRCm39)	D3765G	probably damaging	Het
Dpy19l4	T	G	4: 11,290,411 (GRCm39)	M327L	probably benign	Het
Eya3	G	A	4: 132,431,709 (GRCm39)	G314D	probably damaging	Het
Fmo1	G	A	1: 162,657,632 (GRCm39)	T503I	probably benign	Het
Galnt3	A	G	2: 65,925,628 (GRCm39)	S370P	probably damaging	Het
Gm5431	A	T	11: 48,786,241 (GRCm39)	S45T	probably benign	Het
Gnai3	A	G	3: 108,023,073 (GRCm39)		probably benign	Het
Gpat2	A	G	2: 127,276,381 (GRCm39)	E637G	probably damaging	Het
Gpr84	T	C	15: 103,217,834 (GRCm39)	Y81C	probably damaging	Het
Hnmt	A	T	2: 23,893,896 (GRCm39)	Y199*	probably null	Het
Homer1	G	T	13: 93,483,156 (GRCm39)	R81L	probably damaging	Het
Hspa4	A	T	11: 53,171,544 (GRCm39)		probably null	Het
Marchf6	A	G	15: 31,475,909 (GRCm39)	I649T	probably benign	Het
Mcm8	A	G	2: 132,659,094 (GRCm39)	N26S	probably benign	Het
Mgat5	T	C	1: 127,315,204 (GRCm39)	L310P	probably damaging	Het
Pah	T	C	10: 87,414,755 (GRCm39)	L369P	probably benign	Het
Parp4	A	C	14: 56,853,917 (GRCm39)	K844N	possibly damaging	Het
Tlr5	A	G	1: 182,801,394 (GRCm39)	T233A	probably benign	Het
Tsnaxip1	A	G	8: 106,568,055 (GRCm39)	T274A	probably benign	Het
Wdr48	A	G	9: 119,734,456 (GRCm39)	Y125C	probably damaging	Het

Other mutations in Antkmt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Nimble	UTSW	17	26,010,613 (GRCm39)	missense	possibly damaging	0.93
R0080:Antkmt	UTSW	17	26,010,548 (GRCm39)	missense	probably benign	0.02
R0082:Antkmt	UTSW	17	26,010,548 (GRCm39)	missense	probably benign	0.02
R1887:Antkmt	UTSW	17	26,010,319 (GRCm39)	critical splice donor site	probably null
R4932:Antkmt	UTSW	17	26,010,652 (GRCm39)	critical splice acceptor site	probably null
R5221:Antkmt	UTSW	17	26,010,613 (GRCm39)	missense	possibly damaging	0.93
R5779:Antkmt	UTSW	17	26,009,631 (GRCm39)	missense	probably benign	0.02

Posted On

2012-12-06