Incidental Mutation 'R4581:Tfec'
ID 343669
Institutional Source Beutler Lab
Gene Symbol Tfec
Ensembl Gene ENSMUSG00000029553
Gene Name transcription factor EC
Synonyms Tcfec, TFEC, bHLHe34
MMRRC Submission 041802-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4581 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 16833372-16898440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 16834124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 261 (T261I)
Ref Sequence ENSEMBL: ENSMUSP00000031533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031533] [ENSMUST00000202997]
AlphaFold Q9WTW4
Predicted Effect probably damaging
Transcript: ENSMUST00000031533
AA Change: T261I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031533
Gene: ENSMUSG00000029553
AA Change: T261I

DomainStartEndE-ValueType
HLH 116 169 1.8e-16 SMART
Pfam:DUF3371 196 314 4e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201406
Predicted Effect probably benign
Transcript: ENSMUST00000202997
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,383,828 (GRCm39) S712R possibly damaging Het
4933427I04Rik A G 4: 123,754,146 (GRCm39) D20G possibly damaging Het
Abca7 A G 10: 79,842,402 (GRCm39) D1112G probably benign Het
Actc1 G T 2: 113,880,089 (GRCm39) H175N possibly damaging Het
Adgrd1 C T 5: 129,279,595 (GRCm39) A863V possibly damaging Het
Ankrd17 T C 5: 90,430,979 (GRCm39) D935G possibly damaging Het
Ankrd7 T A 6: 18,868,020 (GRCm39) N95K probably damaging Het
Arhgef4 G A 1: 34,771,205 (GRCm39) E1171K possibly damaging Het
Ascc3 T C 10: 50,587,121 (GRCm39) I991T probably damaging Het
Cacna1s T A 1: 135,998,708 (GRCm39) probably null Het
Camk1d A T 2: 5,359,515 (GRCm39) V177E probably benign Het
Cdh18 T A 15: 23,226,869 (GRCm39) I110N probably damaging Het
Cenpe A G 3: 134,952,761 (GRCm39) K1484E probably benign Het
Cep68 A G 11: 20,189,333 (GRCm39) S560P probably benign Het
Cog3 G T 14: 75,970,391 (GRCm39) T352K probably benign Het
Cox6a2 A G 7: 127,805,152 (GRCm39) S44P possibly damaging Het
Cplane1 C A 15: 8,201,282 (GRCm39) P20T possibly damaging Het
Csmd2 T C 4: 128,262,881 (GRCm39) V689A probably benign Het
Ddx60 A T 8: 62,476,295 (GRCm39) M1548L possibly damaging Het
Dennd5b G T 6: 148,918,482 (GRCm39) silent Het
Dlgap2 T C 8: 14,896,679 (GRCm39) Y1052H probably damaging Het
Dnaaf5 T A 5: 139,170,440 (GRCm39) D502E probably damaging Het
Efhb C A 17: 53,733,303 (GRCm39) A523S probably damaging Het
Epha8 C T 4: 136,660,775 (GRCm39) V648M probably damaging Het
Fanca C T 8: 124,001,077 (GRCm39) probably null Het
Fbxw7 G A 3: 84,874,852 (GRCm39) E205K probably benign Het
Fer1l6 C T 15: 58,512,075 (GRCm39) T1514I probably damaging Het
Gm12886 T C 4: 121,273,880 (GRCm39) E112G probably damaging Het
Gm7535 T C 17: 18,131,345 (GRCm39) probably benign Het
Irf2bp2 T A 8: 127,317,994 (GRCm39) Q524L probably damaging Het
Itih4 A G 14: 30,622,925 (GRCm39) D864G probably benign Het
Kdm4c T G 4: 74,275,576 (GRCm39) probably null Het
Ltn1 A T 16: 87,198,912 (GRCm39) probably null Het
Mafa G T 15: 75,619,585 (GRCm39) P63T unknown Het
Mars2 T A 1: 55,277,021 (GRCm39) L208H probably damaging Het
Myom2 A G 8: 15,156,459 (GRCm39) I769V probably benign Het
Nyap1 A G 5: 137,734,284 (GRCm39) S250P probably damaging Het
Or8k35 A T 2: 86,424,572 (GRCm39) M200K probably benign Het
Osmr C T 15: 6,872,375 (GRCm39) V240I probably benign Het
Pcdhga3 A G 18: 37,809,934 (GRCm39) T796A probably benign Het
Pclo T C 5: 14,725,519 (GRCm39) V1459A unknown Het
Phactr3 A C 2: 177,924,965 (GRCm39) H300P probably damaging Het
Pla2g4e T G 2: 120,016,863 (GRCm39) H226P possibly damaging Het
Plcd4 T A 1: 74,587,383 (GRCm39) W48R probably damaging Het
Prdm16 A G 4: 154,407,810 (GRCm39) S1140P probably damaging Het
Rarg A C 15: 102,160,986 (GRCm39) S18A possibly damaging Het
Rfx4 T A 10: 84,680,164 (GRCm39) S114T possibly damaging Het
Sec14l4 G A 11: 3,993,375 (GRCm39) probably null Het
Six1 T G 12: 73,092,708 (GRCm39) T165P probably benign Het
Skint4 T C 4: 111,944,239 (GRCm39) L17P probably damaging Het
Slc25a23 T A 17: 57,359,740 (GRCm39) Y337F probably damaging Het
Slc9a3 A G 13: 74,312,284 (GRCm39) Y627C probably damaging Het
Smu1 A C 4: 40,737,401 (GRCm39) probably null Het
Spryd3 A G 15: 102,038,799 (GRCm39) S141P probably damaging Het
Src A T 2: 157,304,958 (GRCm39) N175I probably damaging Het
Srcap GCTCCTCCTCCTCCTCCT GCTCCTCCTCCTCCT 7: 127,157,482 (GRCm39) probably benign Het
Stc2 A G 11: 31,315,326 (GRCm39) probably null Het
Taf6l T C 19: 8,755,572 (GRCm39) D261G probably damaging Het
Tal1 T G 4: 114,921,919 (GRCm39) V167G probably damaging Het
Tgfb1 G T 7: 25,396,655 (GRCm39) S273I possibly damaging Het
Tmem8b T A 4: 43,685,760 (GRCm39) V636E probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trappc11 A T 8: 47,946,380 (GRCm39) M1084K probably damaging Het
Trem3 A C 17: 48,556,639 (GRCm39) T37P possibly damaging Het
Ttc7b G A 12: 100,466,376 (GRCm39) R79C probably damaging Het
Urb1 T C 16: 90,585,034 (GRCm39) D529G probably benign Het
Vmn2r8 T A 5: 108,949,570 (GRCm39) T426S probably benign Het
Yipf4 T C 17: 74,806,089 (GRCm39) Y243H probably benign Het
Zfp574 T A 7: 24,780,738 (GRCm39) C587S probably damaging Het
Zfp93 C A 7: 23,975,093 (GRCm39) H359Q probably damaging Het
Znfx1 T C 2: 166,892,236 (GRCm39) E660G probably damaging Het
Other mutations in Tfec
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01980:Tfec APN 6 16,845,465 (GRCm39) missense probably damaging 0.98
IGL02655:Tfec APN 6 16,834,308 (GRCm39) missense possibly damaging 0.60
R1581:Tfec UTSW 6 16,844,243 (GRCm39) missense probably damaging 1.00
R1824:Tfec UTSW 6 16,840,467 (GRCm39) critical splice donor site probably null
R1897:Tfec UTSW 6 16,835,307 (GRCm39) missense probably damaging 1.00
R2881:Tfec UTSW 6 16,835,232 (GRCm39) missense probably benign
R3932:Tfec UTSW 6 16,845,458 (GRCm39) missense probably damaging 1.00
R4627:Tfec UTSW 6 16,840,478 (GRCm39) missense probably damaging 0.99
R5568:Tfec UTSW 6 16,867,592 (GRCm39) missense possibly damaging 0.69
R5590:Tfec UTSW 6 16,834,199 (GRCm39) missense probably benign 0.09
R6723:Tfec UTSW 6 16,835,301 (GRCm39) missense probably damaging 1.00
R7211:Tfec UTSW 6 16,867,464 (GRCm39) missense probably damaging 1.00
R7510:Tfec UTSW 6 16,835,232 (GRCm39) missense probably benign
R7681:Tfec UTSW 6 16,834,235 (GRCm39) missense probably benign 0.30
R7912:Tfec UTSW 6 16,840,467 (GRCm39) critical splice donor site probably null
R8337:Tfec UTSW 6 16,845,422 (GRCm39) missense possibly damaging 0.82
R8352:Tfec UTSW 6 16,844,202 (GRCm39) missense probably damaging 1.00
R8452:Tfec UTSW 6 16,844,202 (GRCm39) missense probably damaging 1.00
R9134:Tfec UTSW 6 16,835,326 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGCGGCTTACAACTCATCAC -3'
(R):5'- TTGGGCATTTGCAGGAACTAG -3'

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