Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01321:Tma16'

74038

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tma16

Ensembl Gene

ENSMUSG00000025591

Gene Name

translation machinery associated 16

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.940) question?

Stock #

IGL01321

Quality Score

Status

Chromosome

Chromosomal Location

66473118-66486530 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66476860 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 161 (L161F)

Ref Sequence

ENSEMBL: ENSMUSP00000026681 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000026681
AA Change: L161F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000026681
Gene: ENSMUSG00000025591
AA Change: L161F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143972

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,685,843	V76D	probably damaging	Het
Acnat2	A	G	4: 49,380,269	S370P	probably damaging	Het
Adamts5	T	C	16: 85,899,475	R265G	probably benign	Het
Cd2ap	T	C	17: 42,845,389	S86G	possibly damaging	Het
Cers3	A	C	7: 66,786,003		probably benign	Het
Dnaaf2	G	T	12: 69,196,602	P562T	probably damaging	Het
Dnajc21	A	C	15: 10,447,102	V520G	probably benign	Het
Dpcr1	A	T	17: 35,636,866	N490K	probably damaging	Het
Dync1h1	A	G	12: 110,625,607		probably benign	Het
Extl3	T	C	14: 65,066,762	N733D	probably benign	Het
Gm5499	T	A	17: 87,078,500		noncoding transcript	Het
Gstm6	T	C	3: 107,941,063	Q180R	probably benign	Het
Hdlbp	G	A	1: 93,423,802	R460W	probably damaging	Het
Ift81	T	C	5: 122,610,968	D40G	probably damaging	Het
Igsf3	T	A	3: 101,427,022		probably benign	Het
Kcnb2	A	G	1: 15,312,923	T158A	probably benign	Het
Lrrc59	C	T	11: 94,638,600	R167*	probably null	Het
Macf1	A	G	4: 123,440,774	C4397R	probably damaging	Het
Morc1	T	C	16: 48,582,462	S583P	probably benign	Het
Nipsnap2	T	A	5: 129,757,141	*282R	probably null	Het
Olfr1160	A	T	2: 88,006,245	C178S	probably damaging	Het
Olfr703	T	C	7: 106,844,749	L46P	probably damaging	Het
Parp14	T	A	16: 35,856,559	Q1013L	probably benign	Het
Pdzd8	A	C	19: 59,301,529	S480A	probably benign	Het
Piezo1	A	T	8: 122,487,600	S1609R	probably damaging	Het
Pkp4	G	A	2: 59,350,627		probably null	Het
Plpp2	A	T	10: 79,527,493	V106D	probably damaging	Het
Rimbp2	T	C	5: 128,786,752	Y724C	probably benign	Het
Rpgrip1l	A	T	8: 91,260,873	L852*	probably null	Het
Samd9l	T	A	6: 3,376,259	D334V	probably benign	Het
Sipa1l2	G	A	8: 125,491,518	T360M	probably damaging	Het
Slc30a2	A	T	4: 134,343,300	D5V	probably damaging	Het
Spata31	T	C	13: 64,921,754	I572T	probably benign	Het
Trim69	A	T	2: 122,173,284	E238V	possibly damaging	Het
Zfhx4	A	G	3: 5,242,328	T205A	probably benign	Het

Other mutations in Tma16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Tma16	APN	8	66480445	missense	probably benign	0.00
IGL02022:Tma16	APN	8	66486410	critical splice donor site	probably null
R0064:Tma16	UTSW	8	66476805	missense	possibly damaging	0.46
R3401:Tma16	UTSW	8	66484171	critical splice acceptor site	probably null
R3402:Tma16	UTSW	8	66484171	critical splice acceptor site	probably null
R3403:Tma16	UTSW	8	66484171	critical splice acceptor site	probably null
R4399:Tma16	UTSW	8	66484171	critical splice acceptor site	probably null
R4402:Tma16	UTSW	8	66484171	critical splice acceptor site	probably null
R4421:Tma16	UTSW	8	66484171	critical splice acceptor site	probably null
R4453:Tma16	UTSW	8	66484171	critical splice acceptor site	probably null
R4493:Tma16	UTSW	8	66484171	critical splice acceptor site	probably null
R4856:Tma16	UTSW	8	66481477	missense	probably damaging	1.00
R4886:Tma16	UTSW	8	66481477	missense	probably damaging	1.00
R5527:Tma16	UTSW	8	66484124	missense	possibly damaging	0.94
R6312:Tma16	UTSW	8	66481466	missense	probably damaging	0.99
R8437:Tma16	UTSW	8	66476796	missense	possibly damaging	0.81

Posted On

2013-10-07