Mutagenetix > Incidental Mutations

Incidental Mutation 'R1689:Tsfm'

189580

Institutional Source

Beutler Lab

Gene Symbol

Tsfm

Ensembl Gene

ENSMUSG00000040521

Gene Name

Ts translation elongation factor, mitochondrial

Synonyms

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

MMRRC Submission

039722-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1689 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127011572-127030840 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127028455 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 130 (N130K)

Ref Sequence

ENSEMBL: ENSMUSP00000113446 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000040560
AA Change: N130K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042134
Gene: ENSMUSG00000040521
AA Change: N130K

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 damaging
Transcript: ENSMUST00000120547
AA Change: N130K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113446
Gene: ENSMUSG00000040521
AA Change: N130K

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

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 46,120,403	K896R	probably benign	Het
Adcy9	A	T	16: 4,297,562		probably null	Het
Adgre1	T	C	17: 57,449,921	F726S	probably benign	Het
Ahctf1	A	T	1: 179,768,383	S148T	probably damaging	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Ammecr1l	C	A	18: 31,780,688	A289D	probably benign	Het
Amotl1	T	C	9: 14,593,222	Y230C	probably damaging	Het
Armc6	A	T	8: 70,229,537	S65R	probably benign	Het
Atad2b	T	A	12: 5,034,575	Y1440*	probably null	Het
Atf6b	T	A	17: 34,650,302	D164E	probably damaging	Het
B020004J07Rik	T	A	4: 101,837,179	K169I	possibly damaging	Het
B4galt6	C	T	18: 20,706,496	S127N	probably benign	Het
Bcl11a	A	T	11: 24,163,167	Y170F	probably damaging	Het
Bcl11a	A	T	11: 24,164,406	D583V	possibly damaging	Het
Btnl1	T	A	17: 34,381,208	Y228*	probably null	Het
C130060K24Rik	A	G	6: 65,381,607	N105S	possibly damaging	Het
Cav2	A	G	6: 17,281,422	H21R	probably benign	Het
Celsr2	T	A	3: 108,407,304	D1135V	possibly damaging	Het
Cntnap1	A	C	11: 101,188,873		probably null	Het
Cysltr2	T	C	14: 73,030,030	D80G	possibly damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dgkh	A	T	14: 78,618,544	M363K	possibly damaging	Het
Eml5	C	T	12: 98,830,935	V1112M	probably damaging	Het
Entpd7	A	G	19: 43,725,476	T425A	probably damaging	Het
Ephx2	T	A	14: 66,087,026	K373*	probably null	Het
F5	G	C	1: 164,198,917	R1686P	probably damaging	Het
Fbxw10	A	T	11: 62,860,036	I482L	probably damaging	Het
Fbxw8	T	C	5: 118,077,617	S443G	probably damaging	Het
Fdft1	T	C	14: 63,156,689	E191G	probably benign	Het
Fgd2	A	G	17: 29,363,722	E26G	probably benign	Het
Gabra4	T	C	5: 71,633,542		probably null	Het
Gc	A	G	5: 89,441,200		probably null	Het
Heatr1	T	A	13: 12,424,625	D1361E	probably benign	Het
Hid1	A	G	11: 115,360,357	F118L	probably damaging	Het
Igsf8	G	T	1: 172,318,937	G564W	probably damaging	Het
Il12rb2	A	G	6: 67,336,760	V4A	probably benign	Het
Irak3	T	C	10: 120,146,552	E335G	probably damaging	Het
Itgb8	T	G	12: 119,170,820	Q504P	probably benign	Het
Kbtbd12	A	T	6: 88,618,585	Y88N	probably damaging	Het
Klk1b5	T	C	7: 44,220,545	I226T	probably damaging	Het
L3hypdh	A	T	12: 72,084,753	I135N	probably damaging	Het
Lrp2	G	T	2: 69,503,529	T1456K	probably benign	Het
Mrgprd	C	A	7: 145,321,717	Y108*	probably null	Het
Muc6	C	T	7: 141,647,998	G742D	probably damaging	Het
Nalcn	T	A	14: 123,285,254	I1572F	probably damaging	Het
Nceh1	A	G	3: 27,226,082	Y126C	probably damaging	Het
Olfr125	T	C	17: 37,835,604	S202P	possibly damaging	Het
Olfr356	A	G	2: 36,937,977	N286S	probably damaging	Het
Olfr867	A	T	9: 20,055,126	N112K	possibly damaging	Het
Pacs1	G	T	19: 5,272,615		probably benign	Het
Pappa2	A	G	1: 158,957,398	L14P	probably damaging	Het
Pdlim2	C	T	14: 70,171,239	G176D	probably damaging	Het
Ptpra	T	C	2: 130,503,492	F5L	probably benign	Het
Ralgapa1	A	G	12: 55,676,767	L2114P	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Senp2	T	A	16: 22,026,666	Y217N	probably damaging	Het
Sned1	C	T	1: 93,283,372	R1061C	probably damaging	Het
Spag16	C	T	1: 70,461,118	T535I	probably benign	Het
Supt20	T	A	3: 54,712,162	L355*	probably null	Het
Tmem132b	A	G	5: 125,787,614	H928R	possibly damaging	Het
Tpo	A	T	12: 30,098,246	L552H	probably damaging	Het
Usp48	T	A	4: 137,656,107		probably null	Het
Vsig10	A	G	5: 117,352,760	D544G	probably benign	Het
Vsig10l	C	T	7: 43,465,368	T433I	possibly damaging	Het
Wdr81	A	G	11: 75,445,596	F1655L	probably damaging	Het
Wfdc3	T	A	2: 164,734,191	D60V	probably damaging	Het

Other mutations in Tsfm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00678:Tsfm	APN	10	127028442	nonsense	probably null
IGL00910:Tsfm	APN	10	127028359	intron	probably benign
IGL01553:Tsfm	APN	10	127028390	missense	probably benign	0.01
R0123:Tsfm	UTSW	10	127022929	intron	probably benign
R0129:Tsfm	UTSW	10	127030470	missense	probably benign	0.28
R0134:Tsfm	UTSW	10	127022929	intron	probably benign
R2004:Tsfm	UTSW	10	127030794	missense	probably damaging	1.00
R2144:Tsfm	UTSW	10	127028445	nonsense	probably null
R4574:Tsfm	UTSW	10	127028373	missense	probably damaging	0.99
R4690:Tsfm	UTSW	10	127030678	intron	probably benign
R5141:Tsfm	UTSW	10	127029613	missense	probably damaging	0.98
R5371:Tsfm	UTSW	10	127011643	missense	probably benign	0.03
R5801:Tsfm	UTSW	10	127022837	frame shift	probably null
R5949:Tsfm	UTSW	10	127028375	missense	probably damaging	1.00
R6959:Tsfm	UTSW	10	127022909	missense	probably benign	0.05
R7248:Tsfm	UTSW	10	127011631	missense	probably benign	0.31
R7499:Tsfm	UTSW	10	127022548	missense	possibly damaging	0.94
R7810:Tsfm	UTSW	10	127011689	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCAAGTTCCTGGGTTCAATCCTCAATC -3'
(R):5'- ACTTTCACAAACAGTAGGTGAAGTGGC -3'

Sequencing Primer
(F):5'- GGGTTCAATCCTCAATCACTCAC -3'
(R):5'- ATGGTGCGAGTCCCTCAG -3'

Posted On

2014-05-14