Incidental Mutation 'R1485:Tfdp1'
ID 163403
Institutional Source Beutler Lab
Gene Symbol Tfdp1
Ensembl Gene ENSMUSG00000038482
Gene Name transcription factor Dp 1
Synonyms Drtf1, Dp1
MMRRC Submission 039538-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1485 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 13388751-13428448 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 13420917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 171 (D171E)
Ref Sequence ENSEMBL: ENSMUSP00000147881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170909] [ENSMUST00000209282] [ENSMUST00000209396] [ENSMUST00000209885] [ENSMUST00000209945] [ENSMUST00000210165] [ENSMUST00000210501]
AlphaFold Q08639
Predicted Effect probably damaging
Transcript: ENSMUST00000170909
AA Change: D171E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127952
Gene: ENSMUSG00000038482
AA Change: D171E

DomainStartEndE-ValueType
E2F_TDP 111 193 1.51e-34 SMART
DP 200 344 4.07e-90 SMART
low complexity region 395 410 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209282
Predicted Effect possibly damaging
Transcript: ENSMUST00000209396
AA Change: D51E

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000209885
AA Change: D171E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000209945
Predicted Effect possibly damaging
Transcript: ENSMUST00000210165
AA Change: D113E

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000210501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210518
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.5%
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 a family of transcription factors that heterodimerize with E2F proteins to enhance their DNA-binding activity and promote transcription from E2F target genes. The encoded protein functions as part of this complex to control the transcriptional activity of numerous genes involved in cell cycle progression from G1 to S phase. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1, 15, and X.[provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced expansion of the ectoplacental cone and chorion, small yolk sacs, and impaired endoreduplication in trophoblast giant cells. Mutants die by embryonic day 12.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,727,738 (GRCm39) S301P probably damaging Het
AI987944 C A 7: 41,023,954 (GRCm39) G342* probably null Het
Alox5 A T 6: 116,401,125 (GRCm39) F212I probably damaging Het
Apaf1 A T 10: 90,896,105 (GRCm39) D322E probably benign Het
Aste1 T A 9: 105,275,009 (GRCm39) Y355* probably null Het
Bloc1s6 T G 2: 122,588,063 (GRCm39) probably null Het
Bltp2 A G 11: 78,176,406 (GRCm39) Y1836C probably damaging Het
Castor2 T A 5: 134,165,972 (GRCm39) L240Q probably damaging Het
Ccdc77 G A 6: 120,315,101 (GRCm39) Q183* probably null Het
Ccdc92 T C 5: 124,913,335 (GRCm39) T65A probably benign Het
Chrna2 C T 14: 66,380,812 (GRCm39) A27V probably benign Het
Coch G T 12: 51,645,072 (GRCm39) V209F probably damaging Het
Cops3 G A 11: 59,718,715 (GRCm39) T193M possibly damaging Het
Cped1 T C 6: 22,132,387 (GRCm39) probably null Het
D6Ertd527e A T 6: 87,088,067 (GRCm39) S77C unknown Het
Defb7 A G 8: 19,545,110 (GRCm39) probably null Het
Dnaaf9 A G 2: 130,590,603 (GRCm39) probably null Het
Entpd6 T A 2: 150,610,843 (GRCm39) probably null Het
Evc2 C T 5: 37,527,900 (GRCm39) A303V probably benign Het
Fhod1 T C 8: 106,063,430 (GRCm39) probably null Het
Gcn1 T A 5: 115,712,676 (GRCm39) F54I probably benign Het
Gm7104 C A 12: 88,252,333 (GRCm39) noncoding transcript Het
Grid1 A T 14: 34,544,540 (GRCm39) D37V probably damaging Het
Icam5 G A 9: 20,947,702 (GRCm39) A560T probably benign Het
Igf2r A C 17: 12,910,172 (GRCm39) I2019S probably damaging Het
Kcnj9 A G 1: 172,153,929 (GRCm39) V65A probably benign Het
Kif3b T C 2: 153,164,851 (GRCm39) probably null Het
Kmt2a T G 9: 44,738,225 (GRCm39) probably benign Het
Marchf6 T A 15: 31,498,839 (GRCm39) T153S probably damaging Het
Mcam T A 9: 44,048,060 (GRCm39) I72N probably damaging Het
Ncoa4-ps A G 12: 119,224,785 (GRCm39) noncoding transcript Het
Nkain3 T C 4: 20,484,932 (GRCm39) I48M probably damaging Het
Nop58 T A 1: 59,737,504 (GRCm39) I107N probably damaging Het
Notch2 A G 3: 98,007,573 (GRCm39) H441R probably benign Het
Nr1d1 G A 11: 98,661,187 (GRCm39) R360C probably benign Het
Or56a5 A G 7: 104,792,888 (GRCm39) I210T probably benign Het
Pclo T C 5: 14,763,793 (GRCm39) S4089P unknown Het
Pi4kb A G 3: 94,901,698 (GRCm39) E455G probably damaging Het
Piezo1 T C 8: 123,208,788 (GRCm39) Y2525C probably damaging Het
Pik3c2a A G 7: 116,016,908 (GRCm39) V283A possibly damaging Het
Pramel12 G A 4: 143,144,188 (GRCm39) R178Q probably benign Het
Rabgap1l A T 1: 160,561,250 (GRCm39) V161E probably benign Het
Rasa2 A G 9: 96,426,401 (GRCm39) I815T probably benign Het
Rev1 A T 1: 38,127,653 (GRCm39) D202E probably benign Het
Septin14 C T 5: 129,770,118 (GRCm39) A193T probably damaging Het
Sh3tc1 T C 5: 35,876,370 (GRCm39) S112G probably benign Het
Siah3 T A 14: 75,762,994 (GRCm39) Y82N probably benign Het
Slc2a7 T C 4: 150,250,853 (GRCm39) S425P probably damaging Het
Slc9a2 C T 1: 40,765,548 (GRCm39) L313F probably damaging Het
Smdt1 T C 15: 82,230,433 (GRCm39) V50A probably benign Het
Spata31e2 T G 1: 26,724,961 (GRCm39) K73T possibly damaging Het
Supt3 G A 17: 45,347,607 (GRCm39) A197T probably benign Het
Tex10 A G 4: 48,436,492 (GRCm39) I742T possibly damaging Het
Tex44 T A 1: 86,355,640 (GRCm39) H516Q possibly damaging Het
Trim31 A C 17: 37,209,568 (GRCm39) D108A probably damaging Het
Ubr1 T C 2: 120,791,579 (GRCm39) N135S probably benign Het
Uso1 G A 5: 92,328,422 (GRCm39) V340I possibly damaging Het
Utp6 A C 11: 79,839,749 (GRCm39) V313G probably damaging Het
Vmn2r107 T C 17: 20,595,109 (GRCm39) V554A possibly damaging Het
Xdh C A 17: 74,221,014 (GRCm39) E572* probably null Het
Zbtb7c T C 18: 76,270,061 (GRCm39) S50P probably damaging Het
Zfp672 A G 11: 58,220,395 (GRCm39) probably benign Het
Zzef1 A G 11: 72,791,635 (GRCm39) probably null Het
Other mutations in Tfdp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02558:Tfdp1 APN 8 13,419,546 (GRCm39) missense possibly damaging 0.95
gangly UTSW 8 13,407,038 (GRCm39) splice site probably null
PIT1430001:Tfdp1 UTSW 8 13,422,526 (GRCm39) missense probably benign 0.35
R1139:Tfdp1 UTSW 8 13,423,000 (GRCm39) missense probably benign 0.14
R1264:Tfdp1 UTSW 8 13,423,837 (GRCm39) splice site probably benign
R1967:Tfdp1 UTSW 8 13,423,039 (GRCm39) missense possibly damaging 0.59
R4849:Tfdp1 UTSW 8 13,423,895 (GRCm39) missense probably benign
R4965:Tfdp1 UTSW 8 13,423,073 (GRCm39) missense probably damaging 0.99
R5257:Tfdp1 UTSW 8 13,419,529 (GRCm39) missense possibly damaging 0.92
R5258:Tfdp1 UTSW 8 13,419,529 (GRCm39) missense possibly damaging 0.92
R5895:Tfdp1 UTSW 8 13,407,038 (GRCm39) splice site probably null
R6785:Tfdp1 UTSW 8 13,427,233 (GRCm39) missense possibly damaging 0.85
R6785:Tfdp1 UTSW 8 13,420,485 (GRCm39) missense probably damaging 0.99
R6786:Tfdp1 UTSW 8 13,420,485 (GRCm39) missense probably damaging 0.99
R8144:Tfdp1 UTSW 8 13,423,015 (GRCm39) missense probably benign 0.01
R9292:Tfdp1 UTSW 8 13,420,580 (GRCm39) missense probably benign 0.32
R9469:Tfdp1 UTSW 8 13,422,965 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- TTCTGGCAAGACATGGGGCTTGAC -3'
(R):5'- CTCAAGTGACCAAGGACAATGGACG -3'

Sequencing Primer
(F):5'- CCACTCAGTATAGCGTGGTTCAG -3'
(R):5'- ACAATGGACGCCTGCTTAG -3'
Posted On 2014-03-28