Incidental Mutation 'R8518:Tfpt'
ID 656246
Institutional Source Beutler Lab
Gene Symbol Tfpt
Ensembl Gene ENSMUSG00000006335
Gene Name TCF3 (E2A) fusion partner
Synonyms FB1, Amida, 2400004F01Rik
MMRRC Submission 067850-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.938) question?
Stock # R8518 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 3623323-3632911 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3632065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 15 (F15S)
Ref Sequence ENSEMBL: ENSMUSP00000104281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008517] [ENSMUST00000108636] [ENSMUST00000108641] [ENSMUST00000125782] [ENSMUST00000153143] [ENSMUST00000155592] [ENSMUST00000179769] [ENSMUST00000205596] [ENSMUST00000206370]
AlphaFold Q3U1J1
Predicted Effect probably benign
Transcript: ENSMUST00000008517
SMART Domains Protein: ENSMUSP00000008517
Gene: ENSMUSG00000008373

DomainStartEndE-ValueType
low complexity region 4 38 N/A INTRINSIC
NOSIC 92 144 2.58e-22 SMART
low complexity region 287 298 N/A INTRINSIC
Pfam:Prp31_C 337 465 1.6e-48 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000053108
Gene: ENSMUSG00000006335
AA Change: F7S

DomainStartEndE-ValueType
low complexity region 51 73 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108636
SMART Domains Protein: ENSMUSP00000104276
Gene: ENSMUSG00000008373

DomainStartEndE-ValueType
low complexity region 4 38 N/A INTRINSIC
NOSIC 92 144 2.58e-22 SMART
Pfam:Nop 186 328 4.9e-46 PFAM
Pfam:Prp31_C 330 459 4.1e-50 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108641
AA Change: F15S

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104281
Gene: ENSMUSG00000006335
AA Change: F15S

DomainStartEndE-ValueType
low complexity region 58 80 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125782
Predicted Effect silent
Transcript: ENSMUST00000153143
Predicted Effect probably damaging
Transcript: ENSMUST00000155592
AA Change: F15S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123636
Gene: ENSMUSG00000006335
AA Change: F15S

DomainStartEndE-ValueType
low complexity region 58 80 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179769
SMART Domains Protein: ENSMUSP00000136031
Gene: ENSMUSG00000008373

DomainStartEndE-ValueType
low complexity region 4 38 N/A INTRINSIC
NOSIC 92 144 2.58e-22 SMART
Pfam:Nop 186 328 4.9e-46 PFAM
Pfam:Prp31_C 330 459 4.1e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205596
Predicted Effect probably benign
Transcript: ENSMUST00000206370
AA Change: F15S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,223,398 (GRCm39) V170A possibly damaging Het
Adamts2 A G 11: 50,666,957 (GRCm39) E418G probably damaging Het
Adra2b T C 2: 127,206,056 (GRCm39) L191P probably damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Bag2 T C 1: 33,787,358 (GRCm39) I55V probably benign Het
Bltp2 T C 11: 78,156,064 (GRCm39) L192P possibly damaging Het
Bmpr1b T C 3: 141,563,343 (GRCm39) I200M possibly damaging Het
Cacna1i C A 15: 80,243,095 (GRCm39) Y417* probably null Het
Cdc7 T A 5: 107,120,864 (GRCm39) I162N probably damaging Het
Chchd1 T C 14: 20,754,211 (GRCm39) I89T probably benign Het
Cxcl16 T C 11: 70,346,510 (GRCm39) N224S probably benign Het
Dync1i1 T G 6: 5,913,330 (GRCm39) L188V probably damaging Het
Dync2h1 A G 9: 7,051,452 (GRCm39) V3161A probably benign Het
E2f3 T A 13: 30,097,453 (GRCm39) K303N probably damaging Het
Fermt1 T C 2: 132,748,635 (GRCm39) T663A probably benign Het
Fhod3 A G 18: 25,189,390 (GRCm39) R611G probably damaging Het
Frem3 A T 8: 81,339,224 (GRCm39) S506C probably damaging Het
Gm10318 T A 10: 77,688,712 (GRCm39) M6K unknown Het
Gm6563 T A 19: 23,653,480 (GRCm39) V90E probably damaging Het
Gpc6 T C 14: 117,163,384 (GRCm39) S13P probably benign Het
Gpr107 C A 2: 31,066,939 (GRCm39) H196Q probably benign Het
Heatr1 T G 13: 12,425,415 (GRCm39) D618E probably benign Het
Lrrc27 T C 7: 138,808,690 (GRCm39) V391A probably benign Het
Mindy3 T G 2: 12,360,154 (GRCm39) K349N probably damaging Het
Mllt10 T C 2: 18,151,670 (GRCm39) V261A probably damaging Het
Mrpl48 G A 7: 100,232,269 (GRCm39) probably benign Het
Msantd5f5 T A 4: 73,542,641 (GRCm39) L47Q probably damaging Het
Muc16 T C 9: 18,430,927 (GRCm39) I8062V probably benign Het
Myo7a T C 7: 97,740,270 (GRCm39) N575D possibly damaging Het
Nfrkb T C 9: 31,311,261 (GRCm39) L370P probably damaging Het
Numbl T C 7: 26,964,361 (GRCm39) V57A probably benign Het
Or51t4 T C 7: 102,597,804 (GRCm39) V44A probably damaging Het
Or5b12 G A 19: 12,896,959 (GRCm39) T238I probably damaging Het
Or6y1 T A 1: 174,276,742 (GRCm39) C184* probably null Het
Pdia2 A T 17: 26,417,144 (GRCm39) L100* probably null Het
Prpf31 A T 7: 3,635,742 (GRCm39) N105I probably damaging Het
Rbm20 A G 19: 53,839,923 (GRCm39) N971D probably benign Het
Rnf213 T A 11: 119,353,043 (GRCm39) M3980K Het
Skint6 A G 4: 113,095,465 (GRCm39) F65L possibly damaging Het
Smpd4 T A 16: 17,458,884 (GRCm39) C536S possibly damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tnp2 A G 16: 10,606,372 (GRCm39) C32R possibly damaging Het
Tns3 A T 11: 8,442,971 (GRCm39) V464E probably damaging Het
Tpp2 T A 1: 44,019,545 (GRCm39) L824H probably damaging Het
Trav15-1-dv6-1 A G 14: 53,797,666 (GRCm39) D105G probably benign Het
Ttc3 T C 16: 94,258,238 (GRCm39) S1679P probably benign Het
Xpo7 A G 14: 70,944,837 (GRCm39) Y19H probably damaging Het
Zswim4 G A 8: 84,938,586 (GRCm39) R1099W probably damaging Het
Other mutations in Tfpt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02156:Tfpt APN 7 3,632,039 (GRCm39) missense probably damaging 1.00
IGL02267:Tfpt APN 7 3,631,982 (GRCm39) missense probably damaging 1.00
R0409:Tfpt UTSW 7 3,623,898 (GRCm39) nonsense probably null
R2122:Tfpt UTSW 7 3,631,930 (GRCm39) missense probably damaging 1.00
R4211:Tfpt UTSW 7 3,623,386 (GRCm39) missense probably damaging 1.00
R6194:Tfpt UTSW 7 3,632,026 (GRCm39) missense probably damaging 1.00
R6257:Tfpt UTSW 7 3,632,566 (GRCm39) nonsense probably null
R6659:Tfpt UTSW 7 3,623,835 (GRCm39) missense probably benign 0.28
R7703:Tfpt UTSW 7 3,623,744 (GRCm39) critical splice donor site probably null
R8445:Tfpt UTSW 7 3,623,928 (GRCm39) missense probably damaging 1.00
R9056:Tfpt UTSW 7 3,627,604 (GRCm39) missense probably null 0.76
R9675:Tfpt UTSW 7 3,623,981 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTTAGTTCCCGCTGGCGAC -3'
(R):5'- CATTGTTAGGGACGAGGACTG -3'

Sequencing Primer
(F):5'- GACGCCTTCGACCCCGG -3'
(R):5'- TCCCTGGCAGTGACCAAGAAG -3'
Posted On 2020-10-20