Incidental Mutation 'R1843:Tfdp2'
ID 207447
Institutional Source Beutler Lab
Gene Symbol Tfdp2
Ensembl Gene ENSMUSG00000032411
Gene Name transcription factor Dp 2
Synonyms A330080J22Rik, DP3, DP3, 1110029I05Rik, DP-3
MMRRC Submission 039868-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # R1843 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 96196275-96323646 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96317804 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 392 (C392R)
Ref Sequence ENSEMBL: ENSMUSP00000139926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034982] [ENSMUST00000165120] [ENSMUST00000165768] [ENSMUST00000179065] [ENSMUST00000179416] [ENSMUST00000185644] [ENSMUST00000188008] [ENSMUST00000188750] [ENSMUST00000189606]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000034982
AA Change: C331R

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034982
Gene: ENSMUSG00000032411
AA Change: C331R

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 possibly damaging
Transcript: ENSMUST00000165120
AA Change: C256R

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000132934
Gene: ENSMUSG00000032411
AA Change: C256R

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 possibly damaging
Transcript: ENSMUST00000165768
AA Change: C332R

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128260
Gene: ENSMUSG00000032411
AA Change: C332R

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 possibly damaging
Transcript: ENSMUST00000179065
AA Change: C305R

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136817
Gene: ENSMUSG00000032411
AA Change: C305R

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 possibly damaging
Transcript: ENSMUST00000179416
AA Change: C331R

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137176
Gene: ENSMUSG00000032411
AA Change: C331R

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 possibly damaging
Transcript: ENSMUST00000185644
AA Change: C331R

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140061
Gene: ENSMUSG00000032411
AA Change: C331R

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 possibly damaging
Transcript: ENSMUST00000188008
AA Change: C316R

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139848
Gene: ENSMUSG00000032411
AA Change: C316R

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 possibly damaging
Transcript: ENSMUST00000188750
AA Change: C392R

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139926
Gene: ENSMUSG00000032411
AA Change: C392R

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 possibly damaging
Transcript: ENSMUST00000189606
AA Change: C316R

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141084
Gene: ENSMUSG00000032411
AA Change: C316R

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 benign
Transcript: ENSMUST00000191133
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik C T 8: 105,708,974 (GRCm38) T88M probably damaging Het
9130011E15Rik A C 19: 45,975,252 (GRCm38) S42R probably benign Het
9430038I01Rik A G 7: 137,377,066 (GRCm38) probably benign Het
Adgra3 A C 5: 49,961,492 (GRCm38) S905A probably damaging Het
Adgrv1 A G 13: 81,544,533 (GRCm38) Y1618H probably damaging Het
Anapc15-ps T C 10: 95,673,314 (GRCm38) T26A probably benign Het
Ankrd13d T C 19: 4,271,595 (GRCm38) K360E probably damaging Het
Anks1b T A 10: 90,512,889 (GRCm38) probably null Het
Apob T C 12: 8,007,602 (GRCm38) F2028S possibly damaging Het
Arap3 G A 18: 37,975,583 (GRCm38) R1265W probably damaging Het
Arhgef37 A G 18: 61,518,050 (GRCm38) Y135H probably damaging Het
Atp1a1 T C 3: 101,582,017 (GRCm38) T760A probably benign Het
Cdc42bpb T A 12: 111,322,821 (GRCm38) M497L probably benign Het
Ces5a C T 8: 93,514,231 (GRCm38) V413M probably damaging Het
Chd5 A T 4: 152,385,806 (GRCm38) Y1903F probably damaging Het
Chd9 T A 8: 91,010,794 (GRCm38) N1500K probably benign Het
Chmp7 G T 14: 69,719,799 (GRCm38) D303E probably benign Het
Chrnb4 A T 9: 55,034,818 (GRCm38) Y391N possibly damaging Het
Crtc1 T C 8: 70,388,152 (GRCm38) T475A probably benign Het
Cyp2c69 A G 19: 39,877,528 (GRCm38) I207T probably benign Het
Dcp1a A G 14: 30,518,983 (GRCm38) E250G probably damaging Het
Ddx20 T C 3: 105,679,082 (GRCm38) Q649R probably benign Het
Defb12 T A 8: 19,112,738 (GRCm38) K59N probably damaging Het
Dpy19l3 A T 7: 35,729,760 (GRCm38) I85N probably damaging Het
Duox2 C T 2: 122,292,258 (GRCm38) probably null Het
E430018J23Rik A C 7: 127,391,488 (GRCm38) D442E probably benign Het
Ebi3 T A 17: 55,956,679 (GRCm38) Y197N probably damaging Het
Emc1 G A 4: 139,375,512 (GRCm38) R994Q probably benign Het
Ercc6 G T 14: 32,546,820 (GRCm38) M530I probably damaging Het
Evl T A 12: 108,652,996 (GRCm38) D70E probably damaging Het
Fam35a A G 14: 34,267,803 (GRCm38) I382T probably benign Het
Fbln2 A G 6: 91,265,775 (GRCm38) N819S probably damaging Het
Foxk2 A G 11: 121,285,537 (GRCm38) I170V probably benign Het
Gfm1 T C 3: 67,435,610 (GRCm38) V159A probably damaging Het
Gm10837 A G 14: 122,490,765 (GRCm38) T18A unknown Het
Gm12887 A T 4: 121,622,030 (GRCm38) V25E probably damaging Het
Hectd4 A G 5: 121,297,180 (GRCm38) H985R possibly damaging Het
Hsfy2 A G 1: 56,636,632 (GRCm38) Y249H possibly damaging Het
Hspg2 T C 4: 137,545,567 (GRCm38) V2639A probably damaging Het
Igf2r A G 17: 12,704,270 (GRCm38) probably null Het
Invs T A 4: 48,422,035 (GRCm38) I889N probably damaging Het
Kcnq1 A T 7: 143,183,120 (GRCm38) M209L probably benign Het
Klra7 A G 6: 130,229,994 (GRCm38) I48T possibly damaging Het
Krt26 CTAGTA CTA 11: 99,333,526 (GRCm38) probably benign Het
Lrif1 T A 3: 106,732,811 (GRCm38) V404D probably damaging Het
Lrriq1 T A 10: 103,227,173 (GRCm38) probably null Het
Lypd6 T A 2: 50,188,762 (GRCm38) I90N possibly damaging Het
Mbp A G 18: 82,584,122 (GRCm38) D174G probably damaging Het
Megf9 G T 4: 70,534,785 (GRCm38) P13Q probably damaging Het
Myo15b A T 11: 115,869,586 (GRCm38) T1155S probably benign Het
Nlrp6 T A 7: 140,923,093 (GRCm38) C371S probably damaging Het
Nosip T A 7: 45,077,309 (GRCm38) probably null Het
Nox3 G T 17: 3,669,878 (GRCm38) P344H probably damaging Het
Nup210l T C 3: 90,172,086 (GRCm38) V959A probably damaging Het
Olfr1360 C A 13: 21,674,672 (GRCm38) V91L probably benign Het
Olfr1475 A G 19: 13,479,931 (GRCm38) I89T probably benign Het
Olfr175-ps1 T A 16: 58,824,077 (GRCm38) I211F probably damaging Het
Olfr267 T C 4: 58,785,384 (GRCm38) I113V probably benign Het
Olfr959 A G 9: 39,572,735 (GRCm38) Y175H possibly damaging Het
Osbpl3 A C 6: 50,370,143 (GRCm38) S25A probably damaging Het
Otog G A 7: 46,246,283 (GRCm38) C107Y probably damaging Het
Pax7 G A 4: 139,784,491 (GRCm38) R260C probably damaging Het
Pbrm1 A T 14: 31,038,957 (GRCm38) I224F probably damaging Het
Pcdh1 T A 18: 38,192,225 (GRCm38) probably null Het
Pcnx T C 12: 81,980,935 (GRCm38) L1585P probably damaging Het
Pde4c C T 8: 70,747,950 (GRCm38) H362Y probably damaging Het
Pdlim2 C T 14: 70,164,779 (GRCm38) R296H probably damaging Het
Pgm2 A T 4: 99,961,478 (GRCm38) Q90L probably damaging Het
Phlpp1 A G 1: 106,343,505 (GRCm38) H814R probably benign Het
Pknox2 A T 9: 36,954,831 (GRCm38) M5K possibly damaging Het
Pole G A 5: 110,330,835 (GRCm38) probably null Het
Polr1b A G 2: 129,102,966 (GRCm38) I61V probably benign Het
Prelp T C 1: 133,914,757 (GRCm38) K217E probably damaging Het
Prkce C T 17: 86,475,546 (GRCm38) Q202* probably null Het
Psmd2 T G 16: 20,656,582 (GRCm38) M370R probably benign Het
Rimklb A T 6: 122,464,009 (GRCm38) H68Q probably damaging Het
Rnasel A G 1: 153,754,674 (GRCm38) D312G possibly damaging Het
Rxrg A T 1: 167,598,752 (GRCm38) M1L probably benign Het
Scrn1 A G 6: 54,522,841 (GRCm38) F220L possibly damaging Het
Scyl3 A G 1: 163,950,675 (GRCm38) S461G probably benign Het
Serpina1c T A 12: 103,895,023 (GRCm38) T411S probably benign Het
Serpinb6d C T 13: 33,671,381 (GRCm38) P346L probably benign Het
Slc9a3r2 C T 17: 24,641,719 (GRCm38) S150N possibly damaging Het
Spg21 G T 9: 65,465,336 (GRCm38) V17F probably damaging Het
Spink5 A T 18: 43,999,891 (GRCm38) M525L probably benign Het
Sun2 T C 15: 79,737,563 (GRCm38) T155A probably benign Het
Tchh T A 3: 93,446,780 (GRCm38) F1176I unknown Het
Tex15 T A 8: 33,576,654 (GRCm38) D2037E probably benign Het
Tmem30c T C 16: 57,276,780 (GRCm38) N139S probably benign Het
Tns2 C T 15: 102,113,133 (GRCm38) probably null Het
Trim66 T C 7: 109,475,839 (GRCm38) E405G probably damaging Het
Trpc4 T A 3: 54,279,994 (GRCm38) F456I probably benign Het
Tspo2 T C 17: 48,448,790 (GRCm38) D108G possibly damaging Het
Tyk2 A T 9: 21,121,554 (GRCm38) C304* probably null Het
Vgll4 A T 6: 114,862,795 (GRCm38) S185T probably benign Het
Vmn2r94 A C 17: 18,244,470 (GRCm38) S519R probably benign Het
Vmn2r96 T G 17: 18,597,921 (GRCm38) S587A probably benign Het
Vps4b C A 1: 106,778,982 (GRCm38) A287S possibly damaging Het
Yeats2 C T 16: 20,229,564 (GRCm38) P1332S probably benign Het
Zfp462 T G 4: 55,010,010 (GRCm38) S659A possibly damaging Het
Zfp507 C T 7: 35,793,725 (GRCm38) R631Q probably damaging Het
Zswim5 G T 4: 116,877,699 (GRCm38) E80D unknown Het
Other mutations in Tfdp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01566:Tfdp2 APN 9 96,295,030 (GRCm38) missense probably damaging 1.00
IGL01737:Tfdp2 APN 9 96,300,412 (GRCm38) missense possibly damaging 0.79
IGL02725:Tfdp2 APN 9 96,287,695 (GRCm38) missense possibly damaging 0.50
IGL02754:Tfdp2 APN 9 96,317,539 (GRCm38) missense probably benign 0.08
IGL02975:Tfdp2 APN 9 96,317,936 (GRCm38) unclassified probably benign
I2289:Tfdp2 UTSW 9 96,317,795 (GRCm38) nonsense probably null
R0329:Tfdp2 UTSW 9 96,306,893 (GRCm38) missense probably damaging 1.00
R0330:Tfdp2 UTSW 9 96,306,893 (GRCm38) missense probably damaging 1.00
R0478:Tfdp2 UTSW 9 96,290,583 (GRCm38) missense probably benign 0.01
R1851:Tfdp2 UTSW 9 96,297,709 (GRCm38) missense probably damaging 1.00
R2121:Tfdp2 UTSW 9 96,295,014 (GRCm38) missense probably damaging 1.00
R2432:Tfdp2 UTSW 9 96,310,590 (GRCm38) missense probably damaging 1.00
R4635:Tfdp2 UTSW 9 96,297,674 (GRCm38) missense probably damaging 1.00
R5970:Tfdp2 UTSW 9 96,317,574 (GRCm38) missense unknown
R7488:Tfdp2 UTSW 9 96,297,642 (GRCm38) missense probably damaging 1.00
R7905:Tfdp2 UTSW 9 96,310,606 (GRCm38) missense
R8222:Tfdp2 UTSW 9 96,310,613 (GRCm38) missense possibly damaging 0.59
R8986:Tfdp2 UTSW 9 96,290,584 (GRCm38) missense probably damaging 0.98
R9544:Tfdp2 UTSW 9 96,287,610 (GRCm38) missense probably damaging 1.00
R9588:Tfdp2 UTSW 9 96,287,610 (GRCm38) missense probably damaging 1.00
Z1177:Tfdp2 UTSW 9 96,306,858 (GRCm38) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- ACCTGACGCTGCTGTGTTG -3'
(R):5'- GGCAAAGACTGAAGCAATCATTTC -3'

Sequencing Primer
(F):5'- GCTGCTGCAACAAGTGGCTC -3'
(R):5'- ATTAAAACATGAGTTCTCTCCTGTC -3'
Posted On 2014-06-23