Mutagenetix > Incidental Mutation

Incidental Mutation 'R5801:Tsfm'

448365

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

043390-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5801 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

126858201-126866683 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TCACTCC to TCACTCCACTCC at 126858706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000042134 (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 null
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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (75/75)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	T	A	4: 144,430,206 (GRCm39)	D261V	probably damaging	Het
Adam15	C	T	3: 89,249,668 (GRCm39)	V667I	probably damaging	Het
Adamts14	T	C	10: 61,038,775 (GRCm39)	S912G	probably damaging	Het
Adamts20	C	A	15: 94,245,551 (GRCm39)	E584*	probably null	Het
Ago3	A	T	4: 126,265,561 (GRCm39)	N284K	possibly damaging	Het
Alx3	T	A	3: 107,512,257 (GRCm39)	Y298*	probably null	Het
Arhgap32	A	G	9: 32,167,084 (GRCm39)	I574V	probably benign	Het
Bsn	C	T	9: 107,990,208 (GRCm39)	R1848Q	possibly damaging	Het
Caskin2	T	C	11: 115,694,299 (GRCm39)	D400G	probably damaging	Het
Cdc73	T	A	1: 143,484,281 (GRCm39)	H525L	probably benign	Het
Cep135	A	G	5: 76,778,523 (GRCm39)	E674G	probably damaging	Het
Cic	G	A	7: 24,970,863 (GRCm39)	R198Q	possibly damaging	Het
Col5a2	T	C	1: 45,428,641 (GRCm39)		probably null	Het
Col6a5	A	G	9: 105,825,566 (GRCm39)	V9A	unknown	Het
Cpsf7	A	T	19: 10,516,996 (GRCm39)	D366V	probably benign	Het
Cuedc2	T	C	19: 46,319,796 (GRCm39)	E173G	probably damaging	Het
D5Ertd579e	T	C	5: 36,761,913 (GRCm39)	E1318G	probably damaging	Het
Ddx55	T	C	5: 124,704,560 (GRCm39)		probably null	Het
Dennd1b	T	A	1: 138,967,727 (GRCm39)		probably null	Het
Dpy19l3	T	C	7: 35,424,723 (GRCm39)	T111A	probably benign	Het
Edn1	C	A	13: 42,460,282 (GRCm39)	A179E	probably benign	Het
Eif2b1	T	C	5: 124,712,775 (GRCm39)		probably null	Het
Epha5	A	G	5: 84,479,085 (GRCm39)		probably null	Het
Erc1	T	A	6: 119,750,783 (GRCm39)	N466I	probably damaging	Het
Ermp1	A	G	19: 29,590,228 (GRCm39)	F825L	probably damaging	Het
Fbh1	T	C	2: 11,774,637 (GRCm39)	D36G	probably damaging	Het
Fbxo41	G	T	6: 85,461,515 (GRCm39)	F64L	probably damaging	Het
Gabrb2	T	C	11: 42,312,216 (GRCm39)	S14P	probably benign	Het
Gm6505	A	T	3: 28,819,116 (GRCm39)		noncoding transcript	Het
Ighv1-18	T	A	12: 114,646,328 (GRCm39)	D91V	probably damaging	Het
Imp3	A	G	9: 56,845,086 (GRCm39)	D99G	probably benign	Het
Iqub	T	C	6: 24,449,768 (GRCm39)	K699R	probably benign	Het
Itpk1	A	G	12: 102,540,204 (GRCm39)	V293A	probably damaging	Het
Lrrc49	A	T	9: 60,509,916 (GRCm39)	F157L	probably damaging	Het
Mapk1ip1	T	A	7: 138,438,239 (GRCm39)	T64S	possibly damaging	Het
Mrpl9	T	C	3: 94,355,103 (GRCm39)	L225P	possibly damaging	Het
Ms4a14	A	G	19: 11,279,150 (GRCm39)	L1136S	possibly damaging	Het
Ms4a14	A	T	19: 11,279,246 (GRCm39)	I1104K	possibly damaging	Het
Nkain2	T	C	10: 32,278,264 (GRCm39)	T54A	probably damaging	Het
Ociad2	A	G	5: 73,483,642 (GRCm39)	F60S	probably damaging	Het
Or1e1f	T	C	11: 73,855,772 (GRCm39)	F113L	probably benign	Het
Polk	T	A	13: 96,620,094 (GRCm39)	H723L	probably damaging	Het
Prickle4	C	A	17: 47,999,698 (GRCm39)	R285L	possibly damaging	Het
Psmd2	A	G	16: 20,473,672 (GRCm39)	N121S	probably damaging	Het
Rab11fip5	T	A	6: 85,314,582 (GRCm39)	S1212C	probably damaging	Het
Rasgef1c	T	G	11: 49,860,883 (GRCm39)	M266R	probably damaging	Het
Rpusd4	A	G	9: 35,181,369 (GRCm39)	E155G	possibly damaging	Het
Rrbp1	A	G	2: 143,831,703 (GRCm39)	S155P	probably damaging	Het
Safb2	T	C	17: 56,870,103 (GRCm39)	Y991C	possibly damaging	Het
Shank1	G	A	7: 44,006,240 (GRCm39)	E1986K	possibly damaging	Het
Slc22a14	A	G	9: 119,001,149 (GRCm39)	F482L	probably benign	Het
Slc35e3	T	A	10: 117,581,767 (GRCm39)	M109L	probably benign	Het
Slco4c1	T	C	1: 96,799,809 (GRCm39)	N9S	probably damaging	Het
Slco6b1	C	T	1: 96,875,356 (GRCm39)		noncoding transcript	Het
Sptan1	A	G	2: 29,920,613 (GRCm39)		probably null	Het
Sptlc2	T	C	12: 87,388,545 (GRCm39)		probably null	Het
Stk10	C	T	11: 32,546,748 (GRCm39)	P335L	probably benign	Het
Strip1	A	C	3: 107,528,757 (GRCm39)	L391R	possibly damaging	Het
Tacr1	T	A	6: 82,534,134 (GRCm39)	S387T	probably benign	Het
Thbs2	A	T	17: 14,908,125 (GRCm39)	F213I	probably damaging	Het
Thbs3	A	T	3: 89,131,704 (GRCm39)	Y692F	probably benign	Het
Tktl2	C	A	8: 66,966,299 (GRCm39)	A619E	probably benign	Het
Tmc3	A	T	7: 83,271,686 (GRCm39)	E946V	possibly damaging	Het
Tmem132d	A	G	5: 127,861,964 (GRCm39)	V719A	possibly damaging	Het
Trpa1	T	C	1: 14,968,302 (GRCm39)	H488R	probably damaging	Het
Wdr35	A	G	12: 9,056,723 (GRCm39)	T503A	possibly damaging	Het
Zfp109	T	C	7: 23,928,126 (GRCm39)	K436E	probably damaging	Het
Zfp423	A	G	8: 88,585,990 (GRCm39)	Y78H	probably damaging	Het
Zfp970	A	G	2: 177,165,151 (GRCm39)	K26E	probably damaging	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
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
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'- GCCCCAGTGTAATGGAAGGATC -3'
(R):5'- CGGACAGAAAGGTCACCATC -3'

Sequencing Primer
(F):5'- ATCCAGGAGGTACGGCTG -3'
(R):5'- ATCCACAGCTCACGTGGGTG -3'

Posted On

2016-12-15