Incidental Mutation 'R4574:Tsfm'
ID 342347
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 041797-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4574 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 126858201-126866683 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 126864242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 158 (Y158D)
Ref Sequence ENSEMBL: ENSMUSP00000113446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040560] [ENSMUST00000116231] [ENSMUST00000120547] [ENSMUST00000152054]
AlphaFold Q9CZR8
Predicted Effect probably benign
Transcript: ENSMUST00000040560
AA Change: Y158D

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000042134
Gene: ENSMUSG00000040521
AA Change: Y158D

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Methyltransf_16 35 198 4.4e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120547
AA Change: Y158D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113446
Gene: ENSMUSG00000040521
AA Change: Y158D

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:UBA 44 81 1.2e-10 PFAM
SCOP:d1efub4 101 120 5e-4 SMART
Meta Mutation Damage Score 0.5053 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (63/65)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b A C 5: 121,638,856 (GRCm39) S730A probably benign Het
Adamts9 G A 6: 92,856,940 (GRCm39) R319* probably null Het
Anapc1 G T 2: 128,469,115 (GRCm39) S1575R probably damaging Het
Appbp2 A T 11: 85,100,764 (GRCm39) probably null Het
Bcas2 C T 3: 103,081,666 (GRCm39) P90S probably benign Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Cd101 T C 3: 100,920,469 (GRCm39) N477D probably benign Het
Cdk12 A G 11: 98,111,814 (GRCm39) probably benign Het
Clcn4 T C 7: 7,290,804 (GRCm39) E634G probably benign Het
Cltb C T 13: 54,746,574 (GRCm39) R64H probably damaging Het
Cpt1b G T 15: 89,308,247 (GRCm39) probably null Het
Ctf2 T G 7: 127,318,556 (GRCm39) T148P possibly damaging Het
Ddx23 G A 15: 98,545,505 (GRCm39) T601I probably damaging Het
Dlx6 G T 6: 6,865,305 (GRCm39) probably benign Het
Dmrtb1 A T 4: 107,534,265 (GRCm39) N183K possibly damaging Het
Dnah11 A G 12: 117,975,990 (GRCm39) probably null Het
Dnah5 C T 15: 28,367,909 (GRCm39) P2765S probably benign Het
Dnah6 T A 6: 73,063,164 (GRCm39) N2698I probably damaging Het
Fpr-rs6 T A 17: 20,403,359 (GRCm39) M1L probably damaging Het
Gm4841 T C 18: 60,402,998 (GRCm39) N365S probably benign Het
Gsdmc2 C T 15: 63,699,872 (GRCm39) probably null Het
Irx5 G A 8: 93,084,890 (GRCm39) V27I probably damaging Het
Kmt2e T A 5: 23,697,405 (GRCm39) V101D possibly damaging Het
Maip1 A C 1: 57,452,404 (GRCm39) K219Q possibly damaging Het
Mpp7 G T 18: 7,353,228 (GRCm39) R493S probably benign Het
Ms4a14 T C 19: 11,281,335 (GRCm39) T408A probably benign Het
Mthfr A G 4: 148,127,998 (GRCm39) N117S possibly damaging Het
Mtres1 T A 10: 43,409,006 (GRCm39) S46C probably damaging Het
Myo5c A G 9: 75,176,893 (GRCm39) I613V probably benign Het
Neurl1b A G 17: 26,650,860 (GRCm39) Q44R probably benign Het
Nup54 T A 5: 92,573,641 (GRCm39) N187I probably benign Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or5ak22 C A 2: 85,230,370 (GRCm39) C169F probably damaging Het
Pate2 C A 9: 35,596,969 (GRCm39) probably benign Het
Pccb T C 9: 100,867,252 (GRCm39) S445G probably damaging Het
Pex3 G A 10: 13,411,315 (GRCm39) Q188* probably null Het
Pikfyve T A 1: 65,231,351 (GRCm39) W74R probably damaging Het
Plcl2 T C 17: 50,914,874 (GRCm39) S628P probably damaging Het
Pnldc1 T C 17: 13,111,669 (GRCm39) H346R probably benign Het
Pom121l2 T A 13: 22,168,572 (GRCm39) C948S probably benign Het
Pspc1 A T 14: 56,999,404 (GRCm39) M284K possibly damaging Het
Ralgapa2 A G 2: 146,277,919 (GRCm39) L414S probably damaging Het
Rgs13 T A 1: 144,016,583 (GRCm39) K53N probably damaging Het
Rorc T C 3: 94,296,291 (GRCm39) S163P probably benign Het
Rpl3l A C 17: 24,952,984 (GRCm39) T315P possibly damaging Het
Rsph3b A G 17: 7,172,438 (GRCm39) V487A probably benign Het
Rusc2 A G 4: 43,416,080 (GRCm39) E462G probably damaging Het
Sez6l T C 5: 112,576,344 (GRCm39) T838A probably damaging Het
Slc22a14 A G 9: 119,008,561 (GRCm39) Y236H probably damaging Het
Sspo G A 6: 48,442,457 (GRCm39) R1984H probably damaging Het
Steap3 G T 1: 120,169,186 (GRCm39) D370E probably benign Het
Sumf1 A G 6: 108,085,393 (GRCm39) probably benign Het
Telo2 T C 17: 25,320,647 (GRCm39) E754G probably damaging Het
Tjp1 A G 7: 64,972,353 (GRCm39) F604L probably damaging Het
Trpm7 A T 2: 126,639,131 (GRCm39) D1734E probably benign Het
Ubtf T C 11: 102,197,591 (GRCm39) probably benign Het
Upk3a G T 15: 84,904,752 (GRCm39) V167F possibly damaging Het
Vmn2r19 C T 6: 123,292,939 (GRCm39) S327L probably benign Het
Vps13c T A 9: 67,858,965 (GRCm39) I2805N probably damaging Het
Zfp592 A G 7: 80,673,534 (GRCm39) D166G possibly damaging Het
Other mutations in Tsfm
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GAGAAACCCTGTCTCAACTCCTTC -3'
(R):5'- TGTTCCGTCAATACCTTGGAC -3'

Sequencing Primer
(F):5'- TCCTTCCCCACCCAAAAAGAGAAG -3'
(R):5'- GGTCTCCAACCTTAAGGCACTTTTAG -3'
Posted On 2015-09-24