Mutagenetix > Incidental Mutation

Incidental Mutation 'R0134:Tsfm'

21832

Institutional Source

Beutler Lab

Gene Symbol

Tsfm

Ensembl Gene

ENSMUSG00000040521

Gene Name

Ts translation elongation factor, mitochondrial

Synonyms

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

MMRRC Submission

038419-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0134 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126858201-126866683 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 126858798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026500] [ENSMUST00000040560] [ENSMUST00000120547] [ENSMUST00000129173] [ENSMUST00000152054]

AlphaFold

Q9CZR8

Predicted Effect

probably benign
Transcript: ENSMUST00000026500

SMART Domains

Protein: ENSMUSP00000026500
Gene: ENSMUSG00000025432

Domain	Start	End	E-Value	Type
GEL	14	111	9.44e-24	SMART
GEL	132	226	8.89e-20	SMART
GEL	253	346	1.19e-29	SMART
GEL	395	492	2.07e-29	SMART
GEL	512	598	4.01e-27	SMART
GEL	617	711	2.81e-31	SMART
VHP	784	819	1.31e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000040560

SMART Domains

Protein: ENSMUSP00000042134
Gene: ENSMUSG00000040521

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: ENSMUST00000120547

SMART Domains

Protein: ENSMUSP00000113446
Gene: ENSMUSG00000040521

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

probably benign
Transcript: ENSMUST00000129173

SMART Domains

Protein: ENSMUSP00000123405
Gene: ENSMUSG00000025432

Domain	Start	End	E-Value	Type
GEL	14	111	9.44e-24	SMART
GEL	132	226	8.89e-20	SMART
GEL	253	346	1.19e-29	SMART
GEL	395	492	2.07e-29	SMART
GEL	512	598	4.01e-27	SMART
GEL	617	711	2.81e-31	SMART
VHP	784	819	1.31e-17	SMART

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.4%
20x: 93.3%

Validation Efficiency

100% (59/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,575,565 (GRCm39)		probably benign	Het
Abca16	T	A	7: 120,139,378 (GRCm39)	L1470Q	probably damaging	Het
Arhgap23	G	T	11: 97,335,154 (GRCm39)	V70L	probably benign	Het
Bicd1	T	C	6: 149,414,448 (GRCm39)	I387T	probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Cd59b	G	A	2: 103,909,286 (GRCm39)		probably null	Het
Ddx50	A	T	10: 62,457,156 (GRCm39)		probably benign	Het
Dele1	G	A	18: 38,394,317 (GRCm39)	V505I	probably benign	Het
Dnlz	T	C	2: 26,241,380 (GRCm39)	N116S	probably damaging	Het
Efcab14	T	C	4: 115,597,728 (GRCm39)	F108L	probably damaging	Het
Esyt2	A	G	12: 116,331,330 (GRCm39)	N736S	probably damaging	Het
Exoc4	A	G	6: 33,948,881 (GRCm39)	D908G	possibly damaging	Het
Garnl3	T	C	2: 32,896,816 (GRCm39)	T608A	possibly damaging	Het
Hdac2	T	A	10: 36,865,180 (GRCm39)	D131E	probably benign	Het
Hes1	T	C	16: 29,886,068 (GRCm39)	V224A	probably damaging	Het
Hps1	G	T	19: 42,754,619 (GRCm39)	Q277K	probably damaging	Het
Ighv15-2	T	G	12: 114,528,657 (GRCm39)		probably benign	Het
Il3	A	G	11: 54,156,506 (GRCm39)		probably null	Het
Itgae	A	C	11: 73,002,168 (GRCm39)	M91L	probably benign	Het
Kctd21	T	A	7: 96,997,298 (GRCm39)	I257N	probably benign	Het
Kif16b	A	T	2: 142,514,295 (GRCm39)	S1215T	probably benign	Het
Lhx9	A	T	1: 138,766,417 (GRCm39)	C124S	probably damaging	Het
Lipo4	A	G	19: 33,479,006 (GRCm39)	V278A	probably benign	Het
Lrp1b	T	C	2: 40,486,995 (GRCm39)	E142G	probably damaging	Het
Macf1	T	C	4: 123,326,636 (GRCm39)	M2835V	possibly damaging	Het
Map9	G	A	3: 82,267,290 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,218,657 (GRCm39)		probably benign	Het
Mndal	A	T	1: 173,685,079 (GRCm39)		probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nepn	A	T	10: 52,276,533 (GRCm39)	T29S	probably damaging	Het
Nlgn1	C	T	3: 25,490,089 (GRCm39)	C546Y	probably damaging	Het
Or14a260	A	G	7: 85,984,803 (GRCm39)	I267T	probably benign	Het
Or8k53	T	C	2: 86,178,072 (GRCm39)	I13V	possibly damaging	Het
Pdgfra	A	G	5: 75,327,172 (GRCm39)	D123G	probably damaging	Het
Plekhn1	T	C	4: 156,312,700 (GRCm39)	R53G	probably benign	Het
Pnp2	T	C	14: 51,200,634 (GRCm39)	F100S	probably damaging	Het
Prickle1	A	G	15: 93,408,658 (GRCm39)	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,695,459 (GRCm39)	C309S	probably benign	Het
Rimoc1	T	C	15: 4,015,776 (GRCm39)	K263E	probably damaging	Het
Rxfp1	A	G	3: 79,564,783 (GRCm39)	S327P	probably damaging	Het
Siah2	A	G	3: 58,583,536 (GRCm39)	V250A	probably damaging	Het
Siglecg	G	A	7: 43,060,595 (GRCm39)	G325D	probably damaging	Het
Slc10a7	T	A	8: 79,423,787 (GRCm39)		probably null	Het
Slc9a1	A	G	4: 133,147,916 (GRCm39)	K645E	probably benign	Het
Smarca4	T	C	9: 21,548,620 (GRCm39)	L302P	probably damaging	Het
Smyd1	G	T	6: 71,193,749 (GRCm39)	T392N	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tenm3	A	T	8: 49,127,507 (GRCm39)	L57Q	probably damaging	Het
Tep1	C	T	14: 51,067,150 (GRCm39)	V2269I	possibly damaging	Het
Tpd52l1	A	G	10: 31,255,252 (GRCm39)	S32P	probably damaging	Het
Ttn	T	A	2: 76,540,468 (GRCm39)	R34173W	probably damaging	Het
Ttn	C	A	2: 76,623,474 (GRCm39)	V15368L	possibly damaging	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vps13b	T	C	15: 35,887,407 (GRCm39)	I3272T	probably benign	Het
Zfp108	A	G	7: 23,959,892 (GRCm39)	H161R	probably benign	Het
Zfp518b	A	G	5: 38,832,002 (GRCm39)	M1T	probably null	Het

Other mutations in Tsfm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00678:Tsfm	APN	10	126,864,311 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CGTACTGCCCCAGTGTAATGGAAG -3'
(R):5'- TGAGTGACAGCCAGCCTGTTTTAG -3'

Sequencing Primer
(F):5'- AGGCTCATCGTCCAGGGAG -3'
(R):5'- CATCACGGTGCAGATAGACT -3'

Posted On

2013-04-12