Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02022:Tma16'

184017

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tma16

Ensembl Gene

ENSMUSG00000025591

Gene Name

translation machinery associated 16

Synonyms

1810029B16Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

IGL02022

Quality Score

Status

Chromosome

Chromosomal Location

66928995-66939182 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 66939062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026681] [ENSMUST00000143972]

AlphaFold

Q9CR02

Predicted Effect

probably null
Transcript: ENSMUST00000026681

SMART Domains

Protein: ENSMUSP00000026681
Gene: ENSMUSG00000025591

Domain	Start	End	E-Value	Type
Pfam:DUF2962	10	162	1.6e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145787

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213036

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	C	5: 146,120,358 (GRCm39)	Y160C	probably damaging	Het
Abi3bp	T	C	16: 56,412,999 (GRCm39)	S314P	probably damaging	Het
Abra	T	C	15: 41,732,802 (GRCm39)	H88R	probably benign	Het
Bsn	A	G	9: 107,987,617 (GRCm39)		probably benign	Het
Chd3	A	C	11: 69,251,886 (GRCm39)	C123G	probably damaging	Het
Clca3b	A	C	3: 144,547,171 (GRCm39)		probably null	Het
Cnot7	G	T	8: 40,952,386 (GRCm39)	P190T	probably damaging	Het
Cps1	A	T	1: 67,212,031 (GRCm39)		probably benign	Het
Dennd2d	A	G	3: 106,407,220 (GRCm39)	T424A	probably benign	Het
Dnhd1	C	T	7: 105,327,516 (GRCm39)	R54C	probably damaging	Het
Efhd1	G	A	1: 87,192,334 (GRCm39)	E55K	probably damaging	Het
Ep300	T	C	15: 81,495,638 (GRCm39)		probably benign	Het
Ezh1	G	T	11: 101,090,166 (GRCm39)	H529Q	probably damaging	Het
Klhl3	A	T	13: 58,198,878 (GRCm39)	S201T	possibly damaging	Het
Krt1c	A	G	15: 101,724,953 (GRCm39)	F219S	probably damaging	Het
Lrp1b	C	T	2: 41,172,172 (GRCm39)	D751N	probably damaging	Het
Lyst	T	A	13: 13,838,629 (GRCm39)	C1848*	probably null	Het
Macf1	A	G	4: 123,284,842 (GRCm39)		probably null	Het
Med10	T	C	13: 69,961,819 (GRCm39)		probably benign	Het
Msh4	T	A	3: 153,592,593 (GRCm39)	T170S	probably damaging	Het
Or52n3	T	C	7: 104,530,141 (GRCm39)	C76R	probably damaging	Het
Pelp1	T	A	11: 70,297,153 (GRCm39)		probably benign	Het
Prex2	G	A	1: 11,367,963 (GRCm39)	V1595I	probably benign	Het
Prpf8	C	T	11: 75,392,660 (GRCm39)	R1617*	probably null	Het
Rabep1	T	A	11: 70,825,385 (GRCm39)	L684Q	probably damaging	Het
Slc22a4	G	A	11: 53,874,435 (GRCm39)		probably benign	Het
Smox	T	C	2: 131,362,037 (GRCm39)	F153S	probably damaging	Het
Unc80	G	T	1: 66,665,675 (GRCm39)	R1814L	possibly damaging	Het
Vmn2r108	C	T	17: 20,691,987 (GRCm39)	D179N	possibly damaging	Het
Washc2	A	G	6: 116,236,126 (GRCm39)	E1199G	probably benign	Het
Zic1	C	A	9: 91,244,525 (GRCm39)		probably null	Het

Other mutations in Tma16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Tma16	APN	8	66,933,097 (GRCm39)	missense	probably benign	0.00
IGL01321:Tma16	APN	8	66,929,512 (GRCm39)	missense	probably benign	0.02
R0064:Tma16	UTSW	8	66,929,457 (GRCm39)	missense	possibly damaging	0.46
R3401:Tma16	UTSW	8	66,936,823 (GRCm39)	critical splice acceptor site	probably null
R3402:Tma16	UTSW	8	66,936,823 (GRCm39)	critical splice acceptor site	probably null
R3403:Tma16	UTSW	8	66,936,823 (GRCm39)	critical splice acceptor site	probably null
R4399:Tma16	UTSW	8	66,936,823 (GRCm39)	critical splice acceptor site	probably null
R4402:Tma16	UTSW	8	66,936,823 (GRCm39)	critical splice acceptor site	probably null
R4421:Tma16	UTSW	8	66,936,823 (GRCm39)	critical splice acceptor site	probably null
R4453:Tma16	UTSW	8	66,936,823 (GRCm39)	critical splice acceptor site	probably null
R4493:Tma16	UTSW	8	66,936,823 (GRCm39)	critical splice acceptor site	probably null
R4856:Tma16	UTSW	8	66,934,129 (GRCm39)	missense	probably damaging	1.00
R4886:Tma16	UTSW	8	66,934,129 (GRCm39)	missense	probably damaging	1.00
R5527:Tma16	UTSW	8	66,936,776 (GRCm39)	missense	possibly damaging	0.94
R6312:Tma16	UTSW	8	66,934,118 (GRCm39)	missense	probably damaging	0.99
R8437:Tma16	UTSW	8	66,929,448 (GRCm39)	missense	possibly damaging	0.81
R9229:Tma16	UTSW	8	66,936,779 (GRCm39)	missense	probably benign	0.01

Posted On

2014-05-07