Incidental Mutation 'R5258:Tfdp1'
ID 401244
Institutional Source Beutler Lab
Gene Symbol Tfdp1
Ensembl Gene ENSMUSG00000038482
Gene Name transcription factor Dp 1
Synonyms Drtf1, Dp1
MMRRC Submission 042828-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5258 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 13388751-13428448 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 13419529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 86 (T86M)
Ref Sequence ENSEMBL: ENSMUSP00000147536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170909] [ENSMUST00000209282] [ENSMUST00000209396] [ENSMUST00000209885] [ENSMUST00000209945] [ENSMUST00000210165] [ENSMUST00000210501]
AlphaFold Q08639
Predicted Effect possibly damaging
Transcript: ENSMUST00000170909
AA Change: T86M

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127952
Gene: ENSMUSG00000038482
AA Change: T86M

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 possibly damaging
Transcript: ENSMUST00000209282
AA Change: T86M

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000209396
Predicted Effect possibly damaging
Transcript: ENSMUST00000209885
AA Change: T86M

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000209945
AA Change: T22M

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210165
AA Change: T28M

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210501
AA Change: T86M

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211606
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 98% (55/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,385,266 (GRCm39) D233V probably damaging Het
Abca13 A T 11: 9,199,684 (GRCm39) T128S possibly damaging Het
Abca16 T G 7: 120,035,992 (GRCm39) probably null Het
Abcc8 T C 7: 45,757,811 (GRCm39) I1313V probably benign Het
Abcc8 C T 7: 45,806,572 (GRCm39) V379I probably benign Het
Acp3 T C 9: 104,186,674 (GRCm39) I266V probably benign Het
Asf1b C T 8: 84,695,896 (GRCm39) T179I probably benign Het
B3gnt7 A G 1: 86,233,287 (GRCm39) K61E possibly damaging Het
Card11 G A 5: 140,862,180 (GRCm39) P1039L possibly damaging Het
Cd1d2 C G 3: 86,894,954 (GRCm39) R147G possibly damaging Het
Cfap68 T C 9: 50,675,633 (GRCm39) probably benign Het
Cfap69 T C 5: 5,654,271 (GRCm39) probably null Het
Ddx46 T C 13: 55,800,837 (GRCm39) F331L possibly damaging Het
Dkk4 C A 8: 23,117,031 (GRCm39) L215I probably damaging Het
Dnhd1 C T 7: 105,323,244 (GRCm39) T584I probably benign Het
Dock3 T C 9: 106,874,124 (GRCm39) Y449C probably damaging Het
Foxi2 C T 7: 135,012,256 (GRCm39) T48M probably benign Het
Gm12887 T C 4: 121,472,897 (GRCm39) K82E probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Igkv4-80 T A 6: 68,993,811 (GRCm39) T27S probably benign Het
Invs A G 4: 48,396,374 (GRCm39) D349G possibly damaging Het
Lbhd1 A G 19: 8,861,453 (GRCm39) probably benign Het
Lipo3 T A 19: 33,591,243 (GRCm39) probably benign Het
Llgl1 G C 11: 60,602,389 (GRCm39) probably null Het
Lyzl6 T A 11: 103,525,899 (GRCm39) I74F probably damaging Het
Map3k6 T C 4: 132,974,953 (GRCm39) V662A possibly damaging Het
Megf8 T A 7: 25,047,751 (GRCm39) F1645I possibly damaging Het
Mfsd4b2 T A 10: 39,798,017 (GRCm39) M113L probably benign Het
Mib1 G A 18: 10,795,856 (GRCm39) probably null Het
Mrps6 T A 16: 91,896,543 (GRCm39) V36E probably damaging Het
Nhsl1 C A 10: 18,400,070 (GRCm39) S432* probably null Het
Nle1 T C 11: 82,795,772 (GRCm39) D225G probably damaging Het
Nlrp4c T A 7: 6,069,622 (GRCm39) S508T probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or5d37 A T 2: 87,923,762 (GRCm39) Y173N probably benign Het
P2rx7 A G 5: 122,819,066 (GRCm39) E496G probably damaging Het
Prdm16 A T 4: 154,451,671 (GRCm39) D179E possibly damaging Het
Psca A T 15: 74,588,240 (GRCm39) I56F probably damaging Het
Ptprg A G 14: 12,142,431 (GRCm38) T361A probably benign Het
Ptrhd1 A G 12: 4,286,481 (GRCm39) Y124C probably damaging Het
Sesn1 C T 10: 41,770,984 (GRCm39) P172S probably benign Het
Sspo T C 6: 48,453,428 (GRCm39) V2872A probably damaging Het
Stard9 T A 2: 120,529,824 (GRCm39) L2027H probably damaging Het
Tas2r114 T A 6: 131,666,504 (GRCm39) I175F probably benign Het
Tex2 T A 11: 106,458,585 (GRCm39) probably benign Het
Trav14-1 C T 14: 53,791,730 (GRCm39) H27Y probably benign Het
Trim24 A T 6: 37,896,335 (GRCm39) Q264L probably benign Het
Vmn2r90 A G 17: 17,933,114 (GRCm39) I225V probably benign Het
Vps13b A G 15: 35,794,567 (GRCm39) T2326A possibly damaging Het
Zfp354b A C 11: 50,813,917 (GRCm39) I336S probably benign Het
Zfp407 C T 18: 84,334,051 (GRCm39) V1761I probably damaging Het
Zfp958 A T 8: 4,678,456 (GRCm39) E160D probably benign 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
R1485:Tfdp1 UTSW 8 13,420,917 (GRCm39) missense probably damaging 0.99
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
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'- AGATGTACGGGTGTCTGAGC -3'
(R):5'- CACTTTCTAAGCGTTTGTGTCG -3'

Sequencing Primer
(F):5'- TGCCACAGCAGAGCAGC -3'
(R):5'- TTCTCTGTGGCCCAGTCAGAG -3'
Posted On 2016-07-06