Incidental Mutation 'R3932:Tfec'
ID308496
Institutional Source Beutler Lab
Gene Symbol Tfec
Ensembl Gene ENSMUSG00000029553
Gene Nametranscription factor EC
SynonymsTcfec, bHLHe34, TFEC
MMRRC Submission 040919-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3932 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location16833373-16898441 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 16845459 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 67 (D67V)
Ref Sequence ENSEMBL: ENSMUSP00000143880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031533] [ENSMUST00000202997]
Predicted Effect probably damaging
Transcript: ENSMUST00000031533
AA Change: D67V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031533
Gene: ENSMUSG00000029553
AA Change: D67V

DomainStartEndE-ValueType
HLH 116 169 1.8e-16 SMART
Pfam:DUF3371 196 314 4e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201104
Predicted Effect probably damaging
Transcript: ENSMUST00000202997
AA Change: D67V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.8021 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the micropthalmia (MiT) family of basic helix-loop-helix leucine zipper transcription factors. MiT transcription factors regulate the expression of target genes by binding to E-box recognition sequences as homo- or heterodimers, and play roles in multiple cellular processes including survival, growth and differentiation. The encoded protein is a transcriptional activator of the nonmuscle myosin II heavy chain-A gene, and may also co-regulate target genes in osteoclasts as a heterodimer with micropthalmia-associated transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3b2 C T 7: 81,473,850 probably benign Het
Arl1 C T 10: 88,733,536 probably benign Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Atp10a T C 7: 58,827,104 M1189T possibly damaging Het
BC051142 A G 17: 34,443,443 T86A possibly damaging Het
Bcl2l14 A G 6: 134,423,808 D64G probably damaging Het
Cdc34b G A 11: 94,742,615 V214M probably benign Het
Cfap54 T C 10: 92,829,757 T2985A probably benign Het
Clcc1 T C 3: 108,673,366 M332T probably damaging Het
Coch T C 12: 51,603,338 I370T probably damaging Het
Ctdnep1 A G 11: 69,989,574 probably benign Het
Edar C T 10: 58,610,342 C221Y probably damaging Het
Fam135b T A 15: 71,450,431 Q1295L probably benign Het
Fam184a C T 10: 53,699,301 A71T probably damaging Het
Fbxw10 A G 11: 62,869,157 probably benign Het
Frmd4a T C 2: 4,537,260 W247R probably damaging Het
Gcn1l1 A G 5: 115,587,834 H553R probably benign Het
Grin3a C T 4: 49,672,472 probably null Het
H2-Q6 C T 17: 35,425,566 probably benign Het
Hivep2 C A 10: 14,128,969 T437K probably benign Het
Hspg2 T C 4: 137,515,568 V670A probably damaging Het
Med10 A G 13: 69,809,982 N18D probably damaging Het
Mgat4b T A 11: 50,233,338 H368Q possibly damaging Het
Morn5 C A 2: 36,053,023 T45N probably damaging Het
Mrc2 G A 11: 105,348,431 probably null Het
Msl3 C T X: 168,671,817 A87T probably damaging Het
Myrf T C 19: 10,218,151 T432A probably damaging Het
Nav3 T A 10: 109,694,035 E2148D probably damaging Het
Nfe2l3 A G 6: 51,456,615 T236A possibly damaging Het
Odc1 T A 12: 17,548,800 F227Y probably benign Het
Olfr1444 T C 19: 12,862,630 M285T possibly damaging Het
Opa1 A T 16: 29,610,880 E401D probably damaging Het
Pdcd1 T C 1: 94,041,264 I110V probably benign Het
Pde5a G A 3: 122,760,896 E212K probably damaging Het
Plin4 A G 17: 56,106,704 I307T probably benign Het
Rag1 T C 2: 101,643,039 Y586C probably damaging Het
Rgs7bp T C 13: 105,052,998 M98V probably benign Het
Rgs9 A G 11: 109,275,813 probably benign Het
Rin3 A G 12: 102,390,083 D961G probably damaging Het
Rubcn A G 16: 32,829,259 probably null Het
Slc13a2 T A 11: 78,398,400 Y495F probably damaging Het
Tmem28 G A X: 99,821,864 V266M possibly damaging Het
Tmem94 T C 11: 115,789,254 M30T probably benign Het
Tubgcp6 A G 15: 89,104,414 probably benign Het
Vmn2r10 C A 5: 109,002,222 A319S possibly damaging Het
Vmn2r85 T C 10: 130,418,467 M783V probably damaging Het
Zfp422 T C 6: 116,626,459 K193R probably benign Het
Zfp94 T G 7: 24,303,687 D110A probably benign Het
Other mutations in Tfec
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01980:Tfec APN 6 16845466 missense probably damaging 0.98
IGL02655:Tfec APN 6 16834309 missense possibly damaging 0.60
R1581:Tfec UTSW 6 16844244 missense probably damaging 1.00
R1824:Tfec UTSW 6 16840468 critical splice donor site probably null
R1897:Tfec UTSW 6 16835308 missense probably damaging 1.00
R2881:Tfec UTSW 6 16835233 missense probably benign
R4581:Tfec UTSW 6 16834125 missense probably damaging 1.00
R4627:Tfec UTSW 6 16840479 missense probably damaging 0.99
R5568:Tfec UTSW 6 16867593 missense possibly damaging 0.69
R5590:Tfec UTSW 6 16834200 missense probably benign 0.09
R6723:Tfec UTSW 6 16835302 missense probably damaging 1.00
R7211:Tfec UTSW 6 16867465 missense probably damaging 1.00
R7510:Tfec UTSW 6 16835233 missense probably benign
R7681:Tfec UTSW 6 16834236 missense probably benign 0.30
R7912:Tfec UTSW 6 16840468 critical splice donor site probably null
R8337:Tfec UTSW 6 16845423 missense possibly damaging 0.82
R8352:Tfec UTSW 6 16844203 missense probably damaging 1.00
R8452:Tfec UTSW 6 16844203 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTGTAGCCATTGTAATCACGG -3'
(R):5'- TGTCATGATCTGGCTCAAATCTC -3'

Sequencing Primer
(F):5'- GCCATTGTAATCACGGTTTAAAAATC -3'
(R):5'- CAGACTTTTCATTTGTGCATGAACTG -3'
Posted On2015-04-17