Incidental Mutation 'R9056:Tfpt'
ID 688686
Institutional Source Beutler Lab
Gene Symbol Tfpt
Ensembl Gene ENSMUSG00000006335
Gene Name TCF3 (E2A) fusion partner
Synonyms FB1, Amida, 2400004F01Rik
MMRRC Submission 068882-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # R9056 (G1)
Quality Score 222.009
Status Not validated
Chromosome 7
Chromosomal Location 3623323-3632911 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3627604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 116 (E116V)
Ref Sequence ENSEMBL: ENSMUSP00000104281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076657] [ENSMUST00000108641] [ENSMUST00000108644] [ENSMUST00000148403] [ENSMUST00000153143] [ENSMUST00000155592] [ENSMUST00000205596] [ENSMUST00000206370]
AlphaFold Q3U1J1
Predicted Effect
SMART Domains Protein: ENSMUSP00000053108
Gene: ENSMUSG00000006335
AA Change: E108V

DomainStartEndE-ValueType
low complexity region 51 73 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000076657
SMART Domains Protein: ENSMUSP00000075953
Gene: ENSMUSG00000035674

DomainStartEndE-ValueType
Pfam:NADHdh_A3 1 84 1.2e-54 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108641
AA Change: E116V

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104281
Gene: ENSMUSG00000006335
AA Change: E116V

DomainStartEndE-ValueType
low complexity region 58 80 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108644
SMART Domains Protein: ENSMUSP00000104284
Gene: ENSMUSG00000035674

DomainStartEndE-ValueType
Pfam:NADHdh_A3 1 100 1.1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134683
Predicted Effect probably benign
Transcript: ENSMUST00000148403
Predicted Effect probably benign
Transcript: ENSMUST00000153143
Predicted Effect possibly damaging
Transcript: ENSMUST00000155592
AA Change: E116V

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123636
Gene: ENSMUSG00000006335
AA Change: E116V

DomainStartEndE-ValueType
low complexity region 58 80 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205596
Predicted Effect probably benign
Transcript: ENSMUST00000206370
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,414,921 (GRCm39) I3996T probably damaging Het
Adgra1 A G 7: 139,432,492 (GRCm39) N110S probably damaging Het
Arhgap31 T C 16: 38,427,017 (GRCm39) T612A probably benign Het
Atp13a4 C T 16: 29,290,706 (GRCm39) probably null Het
C1rb T C 6: 124,553,984 (GRCm39) S352P probably damaging Het
Cc2d2b T C 19: 40,784,216 (GRCm39) I671T unknown Het
Cmas A G 6: 142,710,105 (GRCm39) D116G probably damaging Het
Col24a1 T C 3: 145,021,009 (GRCm39) V460A probably damaging Het
Cracdl G A 1: 37,663,553 (GRCm39) R782C possibly damaging Het
Cubn T G 2: 13,461,466 (GRCm39) D687A probably damaging Het
Cul9 A C 17: 46,854,696 (GRCm39) V2G probably damaging Het
Elp3 T C 14: 65,797,582 (GRCm39) Y382C probably damaging Het
Fbxo11 A T 17: 88,310,249 (GRCm39) I443K Het
Fdps G A 3: 89,006,639 (GRCm39) R84W probably benign Het
Helz C T 11: 107,547,019 (GRCm39) A1112V possibly damaging Het
Herc1 T A 9: 66,380,782 (GRCm39) M3553K probably benign Het
Hspa12a T C 19: 58,813,720 (GRCm39) Y135C probably damaging Het
Hspa1l A G 17: 35,196,849 (GRCm39) Y296C probably benign Het
Ifna12 T G 4: 88,521,079 (GRCm39) E156A possibly damaging Het
Ilf3 C T 9: 21,314,434 (GRCm39) Q689* probably null Het
Ints1 A G 5: 139,760,041 (GRCm39) probably null Het
Itga8 T A 2: 12,235,019 (GRCm39) D413V possibly damaging Het
Kcnd3 C T 3: 105,574,290 (GRCm39) L492F possibly damaging Het
Kcnh5 T C 12: 74,944,774 (GRCm39) K825R probably benign Het
Kcnma1 A G 14: 23,700,214 (GRCm39) I194T possibly damaging Het
Kmo A G 1: 175,465,108 (GRCm39) R30G probably damaging Het
Krtap19-4 C A 16: 88,681,801 (GRCm39) G52C unknown Het
Ksr1 A G 11: 78,918,465 (GRCm39) V563A possibly damaging Het
Lyn A T 4: 3,780,925 (GRCm39) M355L possibly damaging Het
Med13 A T 11: 86,189,660 (GRCm39) L1083* probably null Het
Mfsd13a A G 19: 46,354,900 (GRCm39) T26A probably benign Het
Mup14 T C 4: 61,259,430 (GRCm39) I41V probably benign Het
Myo9b T A 8: 71,804,906 (GRCm39) S1466T probably benign Het
Nampt T C 12: 32,888,458 (GRCm39) probably null Het
Nbeal1 T C 1: 60,317,885 (GRCm39) Y1941H probably damaging Het
Nyap2 C T 1: 81,314,314 (GRCm39) A670V probably benign Het
Or10h28 A G 17: 33,487,794 (GRCm39) Y32C probably damaging Het
Or2aj6 A G 16: 19,443,791 (GRCm39) S20P probably benign Het
Or4k44 T C 2: 111,368,488 (GRCm39) I49V probably benign Het
Or4m1 T C 14: 50,557,999 (GRCm39) I98V probably damaging Het
Or8g31-ps1 T C 9: 39,276,416 (GRCm39) V187A unknown Het
Pcdh15 A G 10: 74,221,731 (GRCm39) D677G probably damaging Het
Pogz T A 3: 94,787,530 (GRCm39) S1373T probably benign Het
Ptprj T C 2: 90,288,613 (GRCm39) D691G probably benign Het
Qpctl T A 7: 18,880,961 (GRCm39) D157V probably damaging Het
Rbbp8 T C 18: 11,810,677 (GRCm39) F60L possibly damaging Het
Ripor1 T A 8: 106,344,072 (GRCm39) L402Q possibly damaging Het
Rptn C T 3: 93,304,412 (GRCm39) H582Y probably benign Het
Rusc1 T A 3: 88,996,990 (GRCm39) Q611L probably damaging Het
Ryr2 A G 13: 11,610,817 (GRCm39) V4003A possibly damaging Het
Siglech T A 7: 55,422,294 (GRCm39) W300R probably benign Het
Slc25a51 T C 4: 45,399,494 (GRCm39) D232G probably damaging Het
Slc6a11 T A 6: 114,220,905 (GRCm39) C479S probably benign Het
Spata31h1 T C 10: 82,127,101 (GRCm39) T1970A probably benign Het
Sspo G T 6: 48,450,608 (GRCm39) G2599V probably damaging Het
Tmem260 T A 14: 48,717,774 (GRCm39) V121E probably benign Het
Tmem54 T C 4: 129,002,120 (GRCm39) F45L probably benign Het
Trim2 T A 3: 84,080,128 (GRCm39) N631I probably damaging Het
Tshr C T 12: 91,474,563 (GRCm39) T179I probably damaging Het
Vmn1r40 A G 6: 89,691,198 (GRCm39) N5S probably benign Het
Vmn2r68 A G 7: 84,871,420 (GRCm39) V621A possibly damaging Het
Zc2hc1c TTTATCC T 12: 85,343,230 (GRCm39) probably benign Het
Zfp644 G A 5: 106,783,944 (GRCm39) Q837* probably null Het
Zfp773 A T 7: 7,135,989 (GRCm39) N202K 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
R8518:Tfpt UTSW 7 3,632,065 (GRCm39) missense possibly damaging 0.72
R9675:Tfpt UTSW 7 3,623,981 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCATGACCCAGTGCTACTTC -3'
(R):5'- GATGAAGTCCAGCTGTCCTG -3'

Sequencing Primer
(F):5'- ATGACCCAGTGCTACTTCTCCAC -3'
(R):5'- GGCTTTTGAAACCTCAGAGC -3'
Posted On 2021-11-19