Incidental Mutation 'U15987:Tfe3'
ID 478386
Institutional Source Beutler Lab
Gene Symbol Tfe3
Ensembl Gene ENSMUSG00000000134
Gene Name transcription factor E3
Synonyms Tfe3, bHLHe33, F830016E06Rik, Tfe-3, Tcfe3
Accession Numbers
Essential gene? Not available question?
Stock # U15987 (G0')
Quality Score 225.009
Status Not validated
Chromosome X
Chromosomal Location 7628799-7641441 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7637288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 231 (L231P)
Ref Sequence ENSEMBL: ENSMUSP00000111342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077680] [ENSMUST00000079542] [ENSMUST00000101695] [ENSMUST00000115677] [ENSMUST00000115678] [ENSMUST00000115679] [ENSMUST00000137467] [ENSMUST00000115680] [ENSMUST00000144900]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000077680
AA Change: L371P
SMART Domains Protein: ENSMUSP00000076864
Gene: ENSMUSG00000000134
AA Change: L371P

DomainStartEndE-ValueType
low complexity region 67 83 N/A INTRINSIC
low complexity region 84 105 N/A INTRINSIC
Pfam:MITF_TFEB_C_3_N 112 265 1e-57 PFAM
HLH 351 404 2.72e-16 SMART
Pfam:DUF3371 431 571 4.5e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000079542
AA Change: L336P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078498
Gene: ENSMUSG00000000134
AA Change: L336P

DomainStartEndE-ValueType
low complexity region 67 83 N/A INTRINSIC
low complexity region 84 105 N/A INTRINSIC
low complexity region 114 150 N/A INTRINSIC
low complexity region 217 230 N/A INTRINSIC
HLH 316 369 2.72e-16 SMART
Pfam:DUF3371 396 537 4.5e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101695
AA Change: L266P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000099219
Gene: ENSMUSG00000000134
AA Change: L266P

DomainStartEndE-ValueType
low complexity region 9 45 N/A INTRINSIC
low complexity region 112 125 N/A INTRINSIC
low complexity region 149 168 N/A INTRINSIC
HLH 246 299 2.72e-16 SMART
Pfam:DUF3371 326 467 1.2e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115677
AA Change: L266P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000111341
Gene: ENSMUSG00000000134
AA Change: L266P

DomainStartEndE-ValueType
low complexity region 9 45 N/A INTRINSIC
low complexity region 112 125 N/A INTRINSIC
low complexity region 149 168 N/A INTRINSIC
HLH 246 299 2.72e-16 SMART
Pfam:DUF3371 326 467 1.2e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115678
AA Change: L231P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111342
Gene: ENSMUSG00000000134
AA Change: L231P

DomainStartEndE-ValueType
low complexity region 9 45 N/A INTRINSIC
low complexity region 112 125 N/A INTRINSIC
HLH 211 264 2.72e-16 SMART
Pfam:DUF3371 291 432 8.5e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115679
AA Change: L266P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000111343
Gene: ENSMUSG00000000134
AA Change: L266P

DomainStartEndE-ValueType
low complexity region 9 45 N/A INTRINSIC
low complexity region 112 125 N/A INTRINSIC
low complexity region 149 168 N/A INTRINSIC
HLH 246 299 2.72e-16 SMART
Pfam:DUF3371 326 467 1.2e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137467
AA Change: L266P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000134125
Gene: ENSMUSG00000000134
AA Change: L266P

DomainStartEndE-ValueType
low complexity region 9 45 N/A INTRINSIC
low complexity region 112 125 N/A INTRINSIC
low complexity region 149 168 N/A INTRINSIC
HLH 246 299 2.72e-16 SMART
Pfam:DUF3371 326 467 1.2e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126694
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144715
Predicted Effect probably benign
Transcript: ENSMUST00000115680
Predicted Effect probably benign
Transcript: ENSMUST00000144900
SMART Domains Protein: ENSMUSP00000120920
Gene: ENSMUSG00000000134

DomainStartEndE-ValueType
low complexity region 47 63 N/A INTRINSIC
low complexity region 64 85 N/A INTRINSIC
low complexity region 94 130 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 97.1%
  • 20x: 90.8%
Validation Efficiency 95% (41/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile, normally pigmented, have normal eyes and mast cells, and show no evidence of osteopetrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T C 2: 152,282,790 (GRCm39) V215A probably damaging Het
Abcc8 T C 7: 45,755,268 (GRCm39) M1511V probably benign Het
Abcc9 A G 6: 142,585,301 (GRCm39) F801S probably damaging Het
Abhd14a A T 9: 106,321,065 (GRCm39) S97T possibly damaging Het
Adam39 C T 8: 41,277,630 (GRCm39) A7V probably benign Het
Adamts2 T A 11: 50,647,533 (GRCm39) I302N probably damaging Het
Akap9 T C 5: 4,117,924 (GRCm39) probably null Het
Cbfa2t3 T C 8: 123,370,236 (GRCm39) H53R probably benign Het
Cdc20b T C 13: 113,220,576 (GRCm39) F485S probably damaging Het
Ctnna1 T C 18: 35,287,567 (GRCm39) V92A probably benign Het
Dlat A T 9: 50,556,417 (GRCm39) probably null Het
Edc4 C T 8: 106,614,180 (GRCm39) R19C probably benign Het
Fam90a1b T C X: 93,400,191 (GRCm39) N213S probably benign Het
Gcg A G 2: 62,306,148 (GRCm39) S150P probably damaging Het
Gk5 C T 9: 96,058,290 (GRCm39) Q424* probably null Het
Insm2 T C 12: 55,646,799 (GRCm39) I181T probably damaging Het
Itgae A G 11: 73,006,400 (GRCm39) E356G possibly damaging Het
Kitl G A 10: 99,912,768 (GRCm39) probably null Het
Msl1 G T 11: 98,689,519 (GRCm39) G9C probably benign Het
Muc4 T A 16: 32,575,621 (GRCm39) probably benign Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Myo3b T C 2: 70,069,243 (GRCm39) V494A possibly damaging Het
Myo7a C T 7: 97,714,997 (GRCm39) W1558* probably null Het
Nop14 T C 5: 34,815,295 (GRCm39) D85G probably damaging Het
Or1ak2 G A 2: 36,827,241 (GRCm39) V37I probably benign Het
Or5p81 T A 7: 108,267,412 (GRCm39) V263E probably damaging Het
Pgk1 C A X: 105,238,098 (GRCm39) L85I possibly damaging Het
Pik3c2b G A 1: 133,002,365 (GRCm39) probably null Het
Plagl1 G A 10: 13,003,490 (GRCm39) G253R probably damaging Het
Ppp4r1 G A 17: 66,121,343 (GRCm39) V268I possibly damaging Het
Pramel27 T G 4: 143,578,155 (GRCm39) H87Q possibly damaging Het
Rad23b C T 4: 55,370,400 (GRCm39) A142V probably damaging Het
Satl1 T C X: 111,315,613 (GRCm39) T281A probably benign Het
Slc13a1 T C 6: 24,133,656 (GRCm39) T199A probably benign Het
Spmap2 A G 10: 79,420,589 (GRCm39) S159P probably damaging Het
Synrg A G 11: 83,915,126 (GRCm39) E1044G probably damaging Het
Syt12 T C 19: 4,506,896 (GRCm39) D83G probably benign Het
Tbx5 T C 5: 120,021,211 (GRCm39) S406P probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Vmn1r29 T C 6: 58,285,080 (GRCm39) F267L probably benign Het
Vmn2r79 T A 7: 86,653,319 (GRCm39) V528D possibly damaging Het
Zfp1 T C 8: 112,396,975 (GRCm39) F299S probably damaging Het
Other mutations in Tfe3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6078:Tfe3 UTSW X 7,637,288 (GRCm39) missense probably damaging 0.98
R6079:Tfe3 UTSW X 7,637,288 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AACCTAAGTAAGCCGCAGAG -3'
(R):5'- GACAGAGAGCTCTTTTGGGG -3'

Sequencing Primer
(F):5'- TAAGCCGCAGAGCAGGC -3'
(R):5'- AGTCTCACTCTGTAGCCCAGGATAG -3'
Posted On 2017-06-26