Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00678:Tsfm'

14614

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tsfm

Ensembl Gene

ENSMUSG00000040521

Gene Name

Ts translation elongation factor, mitochondrial

Synonyms

9430024O13Rik, EF-Tsmt, 2310050B20Rik, EF-TS

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00678

Quality Score

Status

Chromosome

Chromosomal Location

126858201-126866683 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 126864311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 135 (Q135*)

Ref Sequence

ENSEMBL: ENSMUSP00000113446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040560] [ENSMUST00000116231] [ENSMUST00000120547] [ENSMUST00000152054]

AlphaFold

Q9CZR8

Predicted Effect

probably null
Transcript: ENSMUST00000040560
AA Change: Q135*

SMART Domains

Protein: ENSMUSP00000042134
Gene: ENSMUSG00000040521
AA Change: Q135*

Domain	Start	End	E-Value	Type
low complexity region	38	52	N/A	INTRINSIC
Pfam:EF_TS	115	273	9.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116231

SMART Domains

Protein: ENSMUSP00000111939
Gene: ENSMUSG00000080115

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_16	35	198	4.4e-39	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000120547
AA Change: Q135*

SMART Domains

Protein: ENSMUSP00000113446
Gene: ENSMUSG00000040521
AA Change: Q135*

Domain	Start	End	E-Value	Type
Pfam:UBA	44	81	3.4e-10	PFAM
Pfam:EF_TS	101	192	1.3e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140564

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145476

Predicted Effect

probably benign
Transcript: ENSMUST00000152054

SMART Domains

Protein: ENSMUSP00000122669
Gene: ENSMUSG00000040521

Domain	Start	End	E-Value	Type
Pfam:UBA	44	81	1.2e-10	PFAM
SCOP:d1efub4	101	120	5e-4	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Baz2b	T	C	2: 59,836,527 (GRCm39)	E2G	unknown	Het
Bbs2	T	A	8: 94,815,795 (GRCm39)		probably null	Het
Cdk14	T	C	5: 5,299,237 (GRCm39)		probably benign	Het
Cubn	A	T	2: 13,472,521 (GRCm39)	I477N	possibly damaging	Het
Dtl	A	C	1: 191,278,738 (GRCm39)		probably null	Het
Ercc6l2	T	A	13: 63,992,427 (GRCm39)	V292E	probably damaging	Het
Eri3	A	G	4: 117,422,088 (GRCm39)	H122R	probably benign	Het
Glrx3	T	A	7: 137,054,442 (GRCm39)	V75D	probably damaging	Het
Ifi213	A	G	1: 173,421,619 (GRCm39)		probably benign	Het
Ppp1cb	T	A	5: 32,642,682 (GRCm39)		probably benign	Het
Rb1cc1	A	G	1: 6,304,309 (GRCm39)	T66A	probably damaging	Het
Slco6d1	A	G	1: 98,424,069 (GRCm39)	S574G	probably benign	Het
Tas2r136	A	T	6: 132,754,161 (GRCm39)	L322Q	probably damaging	Het
Tead1	A	G	7: 112,441,087 (GRCm39)		probably null	Het

Other mutations in Tsfm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00910:Tsfm	APN	10	126,864,228 (GRCm39)	intron	probably benign
IGL01553:Tsfm	APN	10	126,864,259 (GRCm39)	missense	probably benign	0.01
R0123:Tsfm	UTSW	10	126,858,798 (GRCm39)	intron	probably benign
R0129:Tsfm	UTSW	10	126,866,339 (GRCm39)	missense	probably benign	0.28
R0134:Tsfm	UTSW	10	126,858,798 (GRCm39)	intron	probably benign
R1689:Tsfm	UTSW	10	126,864,324 (GRCm39)	missense	probably damaging	1.00
R2004:Tsfm	UTSW	10	126,866,663 (GRCm39)	missense	probably damaging	1.00
R2144:Tsfm	UTSW	10	126,864,314 (GRCm39)	nonsense	probably null
R4574:Tsfm	UTSW	10	126,864,242 (GRCm39)	missense	probably damaging	0.99
R4690:Tsfm	UTSW	10	126,866,547 (GRCm39)	intron	probably benign
R5141:Tsfm	UTSW	10	126,865,482 (GRCm39)	missense	probably damaging	0.98
R5371:Tsfm	UTSW	10	126,847,512 (GRCm39)	missense	probably benign	0.03
R5801:Tsfm	UTSW	10	126,858,706 (GRCm39)	frame shift	probably null
R5949:Tsfm	UTSW	10	126,864,244 (GRCm39)	missense	probably damaging	1.00
R6959:Tsfm	UTSW	10	126,858,778 (GRCm39)	missense	probably benign	0.05
R7248:Tsfm	UTSW	10	126,847,500 (GRCm39)	missense	probably benign	0.31
R7499:Tsfm	UTSW	10	126,858,417 (GRCm39)	missense	possibly damaging	0.94
R7810:Tsfm	UTSW	10	126,847,558 (GRCm39)	missense	probably benign	0.01
R9301:Tsfm	UTSW	10	126,866,502 (GRCm39)	missense	probably benign
R9430:Tsfm	UTSW	10	126,858,771 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06