Mutagenetix > Incidental Mutation

Incidental Mutation 'R7248:Tsfm'

563697

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

045311-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126858201-126866683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126847500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 197 (V197E)

Ref Sequence

ENSEMBL: ENSMUSP00000122669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026500] [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: 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

probably benign
Transcript: ENSMUST00000152054
AA Change: V197E

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122669
Gene: ENSMUSG00000040521
AA Change: V197E

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

97% (75/77)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,207,959 (GRCm39)		probably null	Het
Aldh16a1	A	G	7: 44,795,018 (GRCm39)	Y484H	probably damaging	Het
Arhgap26	T	C	18: 39,439,907 (GRCm39)		probably null	Het
Atxn7l1	A	G	12: 33,417,194 (GRCm39)	T452A	probably benign	Het
Baz1a	C	T	12: 54,947,293 (GRCm39)	E1119K	probably damaging	Het
Btaf1	A	T	19: 36,922,714 (GRCm39)	E39D	possibly damaging	Het
Bud13	G	T	9: 46,194,413 (GRCm39)	E29*	probably null	Het
Ccdc150	C	T	1: 54,344,057 (GRCm39)	T530I	probably benign	Het
Chd6	G	A	2: 160,803,199 (GRCm39)	Q2160*	probably null	Het
Cluap1	T	A	16: 3,737,364 (GRCm39)	I172N	possibly damaging	Het
Cnot2	T	C	10: 116,334,278 (GRCm39)	N329S	probably benign	Het
Cog4	A	T	8: 111,608,834 (GRCm39)	T175S	unknown	Het
Coq7	C	A	7: 118,128,897 (GRCm39)	R46L	probably benign	Het
D630045J12Rik	A	T	6: 38,145,198 (GRCm39)	V1276E	probably damaging	Het
Dcaf15	A	G	8: 84,829,394 (GRCm39)	V116A	possibly damaging	Het
Ddr2	C	T	1: 169,822,198 (GRCm39)	V417I	probably benign	Het
Defa25	G	A	8: 21,575,216 (GRCm39)	C65Y	probably damaging	Het
Dhx38	T	C	8: 110,285,559 (GRCm39)	T425A	probably benign	Het
Diaph1	T	C	18: 38,022,829 (GRCm39)	T782A	probably benign	Het
Dnah7b	T	A	1: 46,181,245 (GRCm39)	M1044K	possibly damaging	Het
Dusp16	G	A	6: 134,695,940 (GRCm39)	T297M	probably benign	Het
Esyt2	A	G	12: 116,305,858 (GRCm39)	N363D	probably damaging	Het
Fasl	C	T	1: 161,615,760 (GRCm39)	C32Y	possibly damaging	Het
Flg	T	C	3: 93,189,041 (GRCm39)	V137A	probably benign	Het
Gm57858	T	A	3: 36,080,086 (GRCm39)	T224S	probably benign	Het
Gpr150	G	A	13: 76,204,126 (GRCm39)	A273V	probably benign	Het
Grk5	A	G	19: 60,879,045 (GRCm39)	T10A	probably benign	Het
Hivep2	A	G	10: 14,006,909 (GRCm39)	K1169R	possibly damaging	Het
Ido2	A	C	8: 25,030,657 (GRCm39)	Y224*	probably null	Het
Ido2	A	G	8: 25,038,839 (GRCm39)	I149T	probably damaging	Het
Iqca1l	C	T	5: 24,749,269 (GRCm39)	S743N	probably benign	Het
Kctd2	A	G	11: 115,312,845 (GRCm39)	T126A	possibly damaging	Het
Khdc4	T	C	3: 88,600,886 (GRCm39)	S228P	probably damaging	Het
Kif1a	T	C	1: 92,969,305 (GRCm39)	D1090G	probably benign	Het
Klrb1a	A	T	6: 128,586,697 (GRCm39)	H222Q	possibly damaging	Het
Kndc1	A	C	7: 139,500,699 (GRCm39)	H688P	probably damaging	Het
Lrriq1	C	A	10: 103,059,611 (GRCm39)	V141F	possibly damaging	Het
Malrd1	A	G	2: 16,106,722 (GRCm39)	I1845V	unknown	Het
Mob3c	G	A	4: 115,688,881 (GRCm39)	R138H	probably benign	Het
Mre11a	T	A	9: 14,723,209 (GRCm39)	D394E	possibly damaging	Het
Myh7b	A	T	2: 155,464,106 (GRCm39)	I536F	probably damaging	Het
Nacad	T	A	11: 6,548,589 (GRCm39)	K1382*	probably null	Het
Ncor1	T	C	11: 62,275,598 (GRCm39)	K128R	possibly damaging	Het
Or10am5	T	C	7: 6,517,520 (GRCm39)	N303D	probably damaging	Het
Ostn	T	A	16: 27,165,719 (GRCm39)		probably null	Het
Pacs1	G	A	19: 5,189,003 (GRCm39)	T793I	probably damaging	Het
Pcdhb2	T	C	18: 37,429,547 (GRCm39)	S507P	probably damaging	Het
Pde2a	A	G	7: 101,152,597 (GRCm39)	K393E	possibly damaging	Het
Pfkl	T	A	10: 77,825,423 (GRCm39)	N656Y	probably damaging	Het
Phf20	T	A	2: 156,135,331 (GRCm39)		probably null	Het
Plekha6	G	T	1: 133,203,586 (GRCm39)	E550*	probably null	Het
Plxna4	A	T	6: 32,139,095 (GRCm39)	V1691E	probably damaging	Het
Rag1	A	T	2: 101,472,123 (GRCm39)	H1006Q	probably damaging	Het
Rfx4	C	T	10: 84,740,919 (GRCm39)	P679L	probably benign	Het
Ripor2	A	G	13: 24,878,128 (GRCm39)	H301R	probably damaging	Het
Rrp12	A	T	19: 41,871,877 (GRCm39)	I469N	possibly damaging	Het
Serpinb6b	A	G	13: 33,161,559 (GRCm39)	T211A	probably benign	Het
Sf1	A	T	19: 6,426,383 (GRCm39)	H547L	unknown	Het
Slc29a1	T	C	17: 45,903,108 (GRCm39)	D9G	probably damaging	Het
Sptan1	T	A	2: 29,892,311 (GRCm39)	M1075K	probably benign	Het
Syngap1	A	G	17: 27,176,741 (GRCm39)	D474G	probably damaging	Het
Syt16	C	T	12: 74,313,483 (GRCm39)	R470C	probably damaging	Het
Timeless	A	G	10: 128,087,870 (GRCm39)	T1148A	probably benign	Het
Tmem116	A	T	5: 121,601,899 (GRCm39)		probably null	Het
Tmem158	A	T	9: 123,089,390 (GRCm39)	I74N	probably damaging	Het
Traf5	T	A	1: 191,743,432 (GRCm39)	D174V	probably benign	Het
Trim65	A	T	11: 116,018,534 (GRCm39)	I247N	probably benign	Het
Utrn	A	G	10: 12,604,562 (GRCm39)	C539R	possibly damaging	Het
Vps13a	A	T	19: 16,655,406 (GRCm39)	F1874Y	probably benign	Het
Wdr6	A	G	9: 108,453,238 (GRCm39)	M215T	possibly damaging	Het
Wdr75	T	A	1: 45,856,560 (GRCm39)	W528R	probably damaging	Het
Zc3h7b	A	G	15: 81,655,988 (GRCm39)	D112G	possibly damaging	Het
Zc3hav1	C	T	6: 38,330,911 (GRCm39)	D83N	probably benign	Het
Zfp369	T	A	13: 65,443,931 (GRCm39)	V358E	probably damaging	Het
Zfp946	T	A	17: 22,672,489 (GRCm39)	C29*	probably null	Het
Zng1	A	G	19: 24,898,505 (GRCm39)	S318P	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
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
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'- TTCAGACACTCAGGTATAGGGG -3'
(R):5'- CAGAAAGACGTCGTTGGAGTTG -3'

Sequencing Primer
(F):5'- GTCTCTCAAGTCTGATGTCAGGTC -3'
(R):5'- ACGTCGTTGGAGTTGAGCGAG -3'

Posted On

2019-06-26