Incidental Mutation 'IGL00678:Tsfm'
ID14614
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tsfm
Ensembl Gene ENSMUSG00000040521
Gene NameTs translation elongation factor, mitochondrial
SynonymsEF-TS, 9430024O13Rik, 2310050B20Rik, EF-Tsmt
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00678
Quality Score
Status
Chromosome10
Chromosomal Location127011572-127030840 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 127028442 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 135 (Q135*)
Ref Sequence ENSEMBL: ENSMUSP00000113446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040560] [ENSMUST00000116231] [ENSMUST00000120547] [ENSMUST00000152054]
Predicted Effect probably null
Transcript: ENSMUST00000040560
AA Change: Q135*
SMART Domains Protein: ENSMUSP00000042134
Gene: ENSMUSG00000040521
AA Change: Q135*

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 null
Transcript: ENSMUST00000120547
AA Change: Q135*
SMART Domains Protein: ENSMUSP00000113446
Gene: ENSMUSG00000040521
AA Change: Q135*

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
Coding Region Coverage
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz2b T C 2: 60,006,183 E2G unknown Het
Bbs2 T A 8: 94,089,167 probably null Het
Cdk14 T C 5: 5,249,237 probably benign Het
Cubn A T 2: 13,467,710 I477N possibly damaging Het
Dtl A C 1: 191,546,626 probably null Het
Ercc6l2 T A 13: 63,844,613 V292E probably damaging Het
Eri3 A G 4: 117,564,891 H122R probably benign Het
Glrx3 T A 7: 137,452,713 V75D probably damaging Het
Ifi213 A G 1: 173,594,053 probably benign Het
Ppp1cb T A 5: 32,485,338 probably benign Het
Rb1cc1 A G 1: 6,234,085 T66A probably damaging Het
Slco6d1 A G 1: 98,496,344 S574G probably benign Het
Tas2r136 A T 6: 132,777,198 L322Q probably damaging Het
Tead1 A G 7: 112,841,880 probably null Het
Other mutations in Tsfm
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1689:Tsfm UTSW 10 127028455 missense probably damaging 1.00
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
Posted On2012-12-06