Incidental Mutation 'R0036:Tfg'
ID 15456
Institutional Source Beutler Lab
Gene Symbol Tfg
Ensembl Gene ENSMUSG00000022757
Gene Name Trk-fused gene
Synonyms
MMRRC Submission 038330-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.922) question?
Stock # R0036 (G1)
Quality Score
Status Validated
Chromosome 16
Chromosomal Location 56690332-56717450 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 56690995 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 324 (Q324K)
Ref Sequence ENSEMBL: ENSMUSP00000067867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048471] [ENSMUST00000065515] [ENSMUST00000096012] [ENSMUST00000096013] [ENSMUST00000156522] [ENSMUST00000171000] [ENSMUST00000231781] [ENSMUST00000231832] [ENSMUST00000231870]
AlphaFold Q9Z1A1
Predicted Effect probably benign
Transcript: ENSMUST00000048471
SMART Domains Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FN3 114 203 3.08e-2 SMART
low complexity region 433 446 N/A INTRINSIC
low complexity region 516 528 N/A INTRINSIC
low complexity region 579 591 N/A INTRINSIC
low complexity region 734 747 N/A INTRINSIC
low complexity region 751 764 N/A INTRINSIC
FN3 941 1024 6.29e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065515
AA Change: Q324K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000067867
Gene: ENSMUSG00000022757
AA Change: Q324K

DomainStartEndE-ValueType
PB1 10 91 5.97e-19 SMART
coiled coil region 97 124 N/A INTRINSIC
low complexity region 208 236 N/A INTRINSIC
low complexity region 241 269 N/A INTRINSIC
low complexity region 272 295 N/A INTRINSIC
low complexity region 304 334 N/A INTRINSIC
low complexity region 361 373 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000096012
SMART Domains Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FN3 114 203 3.08e-2 SMART
low complexity region 433 446 N/A INTRINSIC
low complexity region 634 647 N/A INTRINSIC
low complexity region 651 664 N/A INTRINSIC
FN3 841 924 6.29e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000096013
SMART Domains Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FN3 114 203 3.08e-2 SMART
low complexity region 433 446 N/A INTRINSIC
low complexity region 670 683 N/A INTRINSIC
low complexity region 687 700 N/A INTRINSIC
FN3 877 960 6.29e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127994
SMART Domains Protein: ENSMUSP00000121564
Gene: ENSMUSG00000022757

DomainStartEndE-ValueType
Blast:PB1 2 30 6e-11 BLAST
coiled coil region 35 62 N/A INTRINSIC
low complexity region 147 175 N/A INTRINSIC
low complexity region 180 208 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000156522
AA Change: Q194K
SMART Domains Protein: ENSMUSP00000119884
Gene: ENSMUSG00000022757
AA Change: Q194K

DomainStartEndE-ValueType
low complexity region 82 139 N/A INTRINSIC
low complexity region 142 165 N/A INTRINSIC
low complexity region 174 202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171000
SMART Domains Protein: ENSMUSP00000128818
Gene: ENSMUSG00000035258

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FN3 114 203 3.08e-2 SMART
low complexity region 464 477 N/A INTRINSIC
low complexity region 481 494 N/A INTRINSIC
FN3 671 754 6.29e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000231781
Predicted Effect probably benign
Transcript: ENSMUST00000231832
Predicted Effect probably benign
Transcript: ENSMUST00000231870
Meta Mutation Damage Score 0.0823 question?
Coding Region Coverage
  • 1x: 79.1%
  • 3x: 69.3%
  • 10x: 43.3%
  • 20x: 23.5%
Validation Efficiency 91% (49/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are several documented fusion oncoproteins encoded partially by this gene. This gene also participates in several oncogenic rearrangements resulting in anaplastic lymphoma and mixoid chondrosarcoma, and may play a role in the NF-kappaB pathway. Multiple transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik A T 19: 23,616,568 probably benign Het
Cfap44 A G 16: 44,439,069 E1098G possibly damaging Het
Ctsq C T 13: 61,037,671 probably null Het
Dock9 C T 14: 121,622,853 V886M probably damaging Het
Eaf2 T C 16: 36,800,658 Y224C probably benign Het
Eif5b T A 1: 38,019,111 S165T probably benign Het
Eln A G 5: 134,711,060 probably null Het
Jakmip1 A G 5: 37,134,304 K514R probably null Het
Myo1e T A 9: 70,341,308 W435R probably damaging Het
Nadsyn1 T C 7: 143,811,291 I226V probably benign Het
Nedd4l T C 18: 65,051,123 probably benign Het
Phrf1 T C 7: 141,261,780 M1435T probably damaging Het
Ppic A T 18: 53,409,192 I148N probably damaging Het
Sdr16c6 C A 4: 4,063,335 probably benign Het
Sgo2a T C 1: 58,015,628 S324P probably benign Het
Slf1 G T 13: 77,100,951 Q373K probably benign Het
Wdr64 G T 1: 175,728,930 G248* probably null Het
Other mutations in Tfg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Tfg APN 16 56694493 splice site probably benign
IGL01404:Tfg APN 16 56694493 splice site probably benign
IGL01548:Tfg APN 16 56701102 missense probably damaging 1.00
trafalgar UTSW 16 56712634 missense possibly damaging 0.90
R0003:Tfg UTSW 16 56690988 missense possibly damaging 0.96
R0003:Tfg UTSW 16 56690988 missense possibly damaging 0.96
R1730:Tfg UTSW 16 56712789 missense probably damaging 1.00
R2025:Tfg UTSW 16 56705625 missense possibly damaging 0.65
R4629:Tfg UTSW 16 56712676 missense probably damaging 1.00
R4676:Tfg UTSW 16 56694491 splice site probably null
R4879:Tfg UTSW 16 56701157 missense probably damaging 1.00
R4916:Tfg UTSW 16 56694396 splice site probably null
R5237:Tfg UTSW 16 56712708 missense possibly damaging 0.80
R5568:Tfg UTSW 16 56701087 missense probably benign 0.14
R5698:Tfg UTSW 16 56701104 missense probably damaging 0.98
R5887:Tfg UTSW 16 56694416 nonsense probably null
R7213:Tfg UTSW 16 56701153 missense probably benign 0.03
R7392:Tfg UTSW 16 56712609 critical splice donor site probably null
R7514:Tfg UTSW 16 56705609 critical splice donor site probably null
R7632:Tfg UTSW 16 56712634 missense possibly damaging 0.90
R8304:Tfg UTSW 16 56701218 missense possibly damaging 0.87
R9254:Tfg UTSW 16 56705687 missense probably damaging 1.00
R9432:Tfg UTSW 16 56704505
Posted On 2012-12-21