Incidental Mutation 'R0329:Tfdp2'
ID65109
Institutional Source Beutler Lab
Gene Symbol Tfdp2
Ensembl Gene ENSMUSG00000032411
Gene Nametranscription factor Dp 2
SynonymsA330080J22Rik, DP3, DP3, 1110029I05Rik, DP-3
MMRRC Submission 038538-MU
Accession Numbers

Genbank: NM_001184706.1, NM_001184708.1, NM_001184709.1, NM_001184710.1, NM_001184711.1, NM_178667.4

Is this an essential gene? Probably essential (E-score: 0.893) question?
Stock #R0329 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location96196275-96323646 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 96306893 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Valine at position 200 (F200V)
Ref Sequence ENSEMBL: ENSMUSP00000141084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034982] [ENSMUST00000165120] [ENSMUST00000165768] [ENSMUST00000179065] [ENSMUST00000179416] [ENSMUST00000185644] [ENSMUST00000186609] [ENSMUST00000188008] [ENSMUST00000188750] [ENSMUST00000189606]
Predicted Effect probably damaging
Transcript: ENSMUST00000034982
AA Change: F215V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034982
Gene: ENSMUSG00000032411
AA Change: F215V

DomainStartEndE-ValueType
Pfam:E2F_TDP 66 147 3.8e-29 PFAM
DP 154 298 1.69e-87 SMART
low complexity region 345 361 N/A INTRINSIC
low complexity region 371 385 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165120
AA Change: F140V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132934
Gene: ENSMUSG00000032411
AA Change: F140V

DomainStartEndE-ValueType
Pfam:E2F_TDP 1 72 3.2e-25 PFAM
DP 79 223 1.69e-87 SMART
low complexity region 270 286 N/A INTRINSIC
low complexity region 296 310 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165768
AA Change: F216V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128260
Gene: ENSMUSG00000032411
AA Change: F216V

DomainStartEndE-ValueType
E2F_TDP 66 148 1.39e-33 SMART
DP 155 299 1.69e-87 SMART
low complexity region 346 362 N/A INTRINSIC
low complexity region 372 386 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179065
AA Change: F189V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136817
Gene: ENSMUSG00000032411
AA Change: F189V

DomainStartEndE-ValueType
Pfam:E2F_TDP 40 121 3.9e-29 PFAM
DP 128 272 1.69e-87 SMART
low complexity region 319 335 N/A INTRINSIC
low complexity region 345 359 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179416
AA Change: F215V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137176
Gene: ENSMUSG00000032411
AA Change: F215V

DomainStartEndE-ValueType
Pfam:E2F_TDP 66 147 3.8e-29 PFAM
DP 154 298 1.69e-87 SMART
low complexity region 345 361 N/A INTRINSIC
low complexity region 371 385 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000185644
AA Change: F215V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140061
Gene: ENSMUSG00000032411
AA Change: F215V

DomainStartEndE-ValueType
Pfam:E2F_TDP 66 147 3.8e-29 PFAM
DP 154 298 1.69e-87 SMART
low complexity region 345 361 N/A INTRINSIC
low complexity region 371 385 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000186609
AA Change: F164V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139891
Gene: ENSMUSG00000032411
AA Change: F164V

DomainStartEndE-ValueType
Pfam:E2F_TDP 14 96 3.2e-27 PFAM
DP 103 203 4e-59 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188008
AA Change: F200V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139848
Gene: ENSMUSG00000032411
AA Change: F200V

DomainStartEndE-ValueType
Pfam:E2F_TDP 50 132 1e-26 PFAM
DP 139 283 8e-92 SMART
low complexity region 330 346 N/A INTRINSIC
low complexity region 356 365 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000188750
AA Change: F276V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139926
Gene: ENSMUSG00000032411
AA Change: F276V

DomainStartEndE-ValueType
Pfam:E2F_TDP 127 208 1.3e-26 PFAM
DP 215 359 8e-92 SMART
low complexity region 406 422 N/A INTRINSIC
low complexity region 432 446 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000189606
AA Change: F200V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141084
Gene: ENSMUSG00000032411
AA Change: F200V

DomainStartEndE-ValueType
Pfam:E2F_TDP 50 132 1e-26 PFAM
DP 139 283 8e-92 SMART
low complexity region 330 346 N/A INTRINSIC
low complexity region 356 365 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190689
Predicted Effect probably benign
Transcript: ENSMUST00000191133
Meta Mutation Damage Score 0.9463 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 95.0%
  • 20x: 89.0%
Validation Efficiency 99% (107/108)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the transcription factor DP family. The encoded protein forms heterodimers with the E2F transcription factors resulting in transcriptional activation of cell cycle regulated genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Allele List at MGI

 All alleles(416) : Targeted, other(1) Gene trapped(415)

SNPs within 2kb(416 from dbSNP Build 128)  

Other mutations in this stock
Total: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik A T 17: 56,883,631 I400F probably benign Het
4833423E24Rik T A 2: 85,518,551 R72S probably benign Het
4931409K22Rik T C 5: 24,545,785 probably null Het
Abca13 A T 11: 9,399,430 H3668L probably damaging Het
Acvr1c T C 2: 58,284,838 T313A probably damaging Het
Adam28 T C 14: 68,617,739 K651R probably damaging Het
Adamtsl3 A T 7: 82,521,990 D417V probably damaging Het
Adgrf4 A T 17: 42,667,313 C380S probably damaging Het
AI597479 T G 1: 43,111,117 L129R probably benign Het
Anpep C T 7: 79,838,256 E518K probably benign Het
Anxa7 A C 14: 20,469,498 probably null Het
Arhgap22 A G 14: 33,369,417 R650G possibly damaging Het
Atp8a1 T A 5: 67,812,073 probably benign Het
Bcr C T 10: 75,181,634 T1209I possibly damaging Het
Bmpr1a C T 14: 34,429,777 S185N probably benign Het
Calcoco1 A T 15: 102,715,763 M246K probably benign Het
Casp12 T A 9: 5,345,534 probably benign Het
Ccno T A 13: 112,989,996 L333Q probably damaging Het
Cdhr2 T A 13: 54,734,801 probably benign Het
Cftr T A 6: 18,226,097 M318K probably null Het
Ckmt2 T A 13: 91,863,203 D96V possibly damaging Het
Cnnm1 C T 19: 43,441,910 P489L probably damaging Het
Cntnap1 A T 11: 101,188,309 D1175V probably damaging Het
Cpne5 A T 17: 29,211,660 L92H probably damaging Het
Crcp C A 5: 130,042,242 Q61K possibly damaging Het
Dcaf8 T A 1: 172,187,411 D414E probably benign Het
Ddx28 T C 8: 106,010,245 T394A probably benign Het
Ddx55 T C 5: 124,559,147 F191L probably benign Het
Dnaaf1 T C 8: 119,596,017 probably benign Het
Dnaaf2 C A 12: 69,197,744 R181L probably damaging Het
Elac2 A G 11: 64,979,310 Y67C probably damaging Het
Elf5 A G 2: 103,430,420 probably benign Het
Emcn T A 3: 137,416,814 probably benign Het
Erbb4 T C 1: 68,298,280 probably benign Het
Erbin C A 13: 103,868,865 C114F probably damaging Het
Etfdh T C 3: 79,609,844 I353V probably benign Het
Fam172a T A 13: 77,761,951 probably benign Het
Fbxl12 C T 9: 20,638,480 G316D probably damaging Het
Gbf1 G A 19: 46,272,270 probably null Het
Gbp2b T G 3: 142,608,176 S406A probably benign Het
Gli3 T G 13: 15,723,558 L741R probably damaging Het
Gmip G T 8: 69,810,818 S70I probably benign Het
Gnptab T C 10: 88,440,309 S1153P probably damaging Het
Gp1ba A G 11: 70,640,409 probably benign Het
Gramd1a T C 7: 31,138,254 D360G possibly damaging Het
Hectd4 T C 5: 121,259,864 I285T probably benign Het
Hrh4 A G 18: 13,007,245 probably benign Het
Hsp90b1 T C 10: 86,694,155 E226G probably damaging Het
Hspa13 A T 16: 75,765,130 D60E probably damaging Het
Htt T A 5: 34,817,134 probably benign Het
Ispd C T 12: 36,381,838 A22V possibly damaging Het
Kif14 G C 1: 136,496,026 probably benign Het
Kit T G 5: 75,652,829 V888G probably damaging Het
Lpin3 T C 2: 160,905,305 V827A probably benign Het
Lrriq4 T C 3: 30,655,724 S406P probably benign Het
Man2c1 T C 9: 57,141,183 V777A probably benign Het
Mcm8 A G 2: 132,819,994 K83E possibly damaging Het
Mep1a A G 17: 43,497,898 probably null Het
Mtor T A 4: 148,484,380 V1119E probably benign Het
Mybpc2 C T 7: 44,509,029 A710T possibly damaging Het
Myo9a C G 9: 59,923,677 T2368S probably damaging Het
Nbeal1 A G 1: 60,268,063 Y1684C probably damaging Het
Npm3 A G 19: 45,749,526 F11L probably benign Het
Nutf2 T A 8: 105,876,363 S37T probably damaging Het
Obscn T A 11: 59,040,441 I5790F probably damaging Het
Obscn A T 11: 59,052,506 D4833E probably damaging Het
Olfr1015 T A 2: 85,785,803 C97* probably null Het
Olfr123 A T 17: 37,795,989 M182L probably benign Het
Olfr39 T A 9: 20,285,857 S61T possibly damaging Het
Olfr955 T C 9: 39,470,556 T57A possibly damaging Het
Pcdhb1 A G 18: 37,267,024 D676G possibly damaging Het
Pcif1 G T 2: 164,889,444 R466L probably damaging Het
Pdk1 T C 2: 71,895,674 probably benign Het
Phxr2 T C 10: 99,126,117 probably benign Het
Pidd1 A T 7: 141,439,561 probably benign Het
Plec A G 15: 76,191,418 probably null Het
Polr1a T A 6: 71,966,416 C1212S possibly damaging Het
Pot1a A G 6: 25,778,831 probably benign Het
Prdm5 T C 6: 65,862,903 probably benign Het
Primpol A T 8: 46,610,461 N53K probably damaging Het
Pyroxd1 A G 6: 142,361,976 I491V probably benign Het
Serpinb3b G T 1: 107,159,703 N25K probably damaging Het
Slc9b1 C T 3: 135,373,235 R218* probably null Het
Ssbp2 T A 13: 91,680,579 probably null Het
Stat4 A G 1: 52,090,870 probably benign Het
Steap4 T C 5: 7,975,829 V130A possibly damaging Het
Stoml2 A G 4: 43,030,238 probably null Het
Syne2 G T 12: 75,966,953 G2974C probably benign Het
Tgm4 T C 9: 123,048,557 probably null Het
Tie1 C A 4: 118,484,727 R175L probably benign Het
Tmem145 A G 7: 25,308,674 probably benign Het
Tsacc A G 3: 88,282,862 S94P possibly damaging Het
Tshz3 T A 7: 36,770,033 D482E probably benign Het
Tspan33 T C 6: 29,711,092 probably null Het
Ugt2b35 A G 5: 87,003,405 K290R probably null Het
Unc80 T C 1: 66,674,087 L2788P possibly damaging Het
Usp10 T A 8: 119,936,557 C39* probably null Het
Utp20 T A 10: 88,817,979 T260S probably benign Het
Vmn2r118 G T 17: 55,610,717 T265K probably damaging Het
Vmn2r7 C A 3: 64,691,018 C797F probably damaging Het
Vmn2r98 A C 17: 19,066,347 H369P probably benign Het
Vps39 A T 2: 120,338,787 Y245N possibly damaging Het
Wdr27 A G 17: 14,934,459 probably benign Het
Ythdc2 A G 18: 44,865,060 probably benign Het
Zcwpw2 C A 9: 118,014,055 noncoding transcript Het
Zdhhc1 C A 8: 105,483,543 A81S probably benign Het
Zfp729a G T 13: 67,620,354 H585Q probably damaging Het
Other mutations in Tfdp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01566:Tfdp2 APN 9 96295030 missense probably damaging 1.00
IGL01737:Tfdp2 APN 9 96300412 missense possibly damaging 0.79
IGL02725:Tfdp2 APN 9 96287695 missense possibly damaging 0.50
IGL02754:Tfdp2 APN 9 96317539 missense probably benign 0.08
IGL02975:Tfdp2 APN 9 96317936 unclassified probably benign
I2289:Tfdp2 UTSW 9 96317795 nonsense probably null
R0330:Tfdp2 UTSW 9 96306893 missense probably damaging 1.00
R0478:Tfdp2 UTSW 9 96290583 missense probably benign 0.01
R1843:Tfdp2 UTSW 9 96317804 missense possibly damaging 0.90
R1851:Tfdp2 UTSW 9 96297709 missense probably damaging 1.00
R2121:Tfdp2 UTSW 9 96295014 missense probably damaging 1.00
R2432:Tfdp2 UTSW 9 96310590 missense probably damaging 1.00
R4635:Tfdp2 UTSW 9 96297674 missense probably damaging 1.00
R5970:Tfdp2 UTSW 9 96317574 missense unknown
R7488:Tfdp2 UTSW 9 96297642 missense probably damaging 1.00
R7905:Tfdp2 UTSW 9 96310606 missense
R8222:Tfdp2 UTSW 9 96310613 missense possibly damaging 0.59
Z1177:Tfdp2 UTSW 9 96306858 missense possibly damaging 0.96
Predicted Primers
Posted On2013-08-08