Incidental Mutation 'IGL01566:Tfdp2'
ID90984
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tfdp2
Ensembl Gene ENSMUSG00000032411
Gene Nametranscription factor Dp 2
SynonymsA330080J22Rik, DP3, DP3, 1110029I05Rik, DP-3
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: 0.920) question?
Stock #IGL01566
Quality Score
Status
Chromosome9
Chromosomal Location96196275-96323646 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 96295030 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 5 (E5G)
Ref Sequence ENSEMBL: ENSMUSP00000132934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034982] [ENSMUST00000165120] [ENSMUST00000165768] [ENSMUST00000179065] [ENSMUST00000179416] [ENSMUST00000185644] [ENSMUST00000186609] [ENSMUST00000188008] [ENSMUST00000188750] [ENSMUST00000188829] [ENSMUST00000189606]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034982
AA Change: E80G

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034982
Gene: ENSMUSG00000032411
AA Change: E80G

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: E5G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132934
Gene: ENSMUSG00000032411
AA Change: E5G

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: E80G

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128260
Gene: ENSMUSG00000032411
AA Change: E80G

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: E54G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136817
Gene: ENSMUSG00000032411
AA Change: E54G

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: E80G

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000137176
Gene: ENSMUSG00000032411
AA Change: E80G

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: E80G

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140061
Gene: ENSMUSG00000032411
AA Change: E80G

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: E28G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139891
Gene: ENSMUSG00000032411
AA Change: E28G

DomainStartEndE-ValueType
Pfam:E2F_TDP 14 96 3.2e-27 PFAM
DP 103 203 4e-59 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000188008
AA Change: E64G

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139848
Gene: ENSMUSG00000032411
AA Change: E64G

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: E141G

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139926
Gene: ENSMUSG00000032411
AA Change: E141G

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: ENSMUST00000188829
AA Change: E80G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140359
Gene: ENSMUSG00000032411
AA Change: E80G

DomainStartEndE-ValueType
Pfam:E2F_TDP 66 108 4.6e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000189606
AA Change: E64G

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141084
Gene: ENSMUSG00000032411
AA Change: E64G

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: ENSMUST00000191390
Coding Region Coverage
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931417E11Rik G A 6: 73,468,690 T292I probably damaging Het
AB124611 T C 9: 21,535,989 V149A possibly damaging Het
Casc3 T C 11: 98,823,401 probably null Het
Dhdds T C 4: 133,991,337 I162V probably damaging Het
Dsg1a T C 18: 20,336,783 probably benign Het
E030025P04Rik T A 11: 109,143,888 D58V unknown Het
Gcn1l1 A G 5: 115,611,058 N1883S probably damaging Het
Gucy1a2 T C 9: 3,634,661 L235P probably damaging Het
Kprp T C 3: 92,823,964 N593S probably benign Het
Mme T C 3: 63,361,929 probably benign Het
Nr6a1 G T 2: 38,727,889 Q419K probably benign Het
Pcolce A G 5: 137,605,160 probably benign Het
Ppp2cb C A 8: 33,611,763 R110S probably benign Het
Slc35f1 A G 10: 53,089,455 Y322C probably damaging Het
Slc5a3 T C 16: 92,077,577 V174A probably damaging Het
St8sia4 G T 1: 95,653,757 R87S probably benign Het
Tmem161b T C 13: 84,294,762 I267T probably benign Het
Ttn A G 2: 76,952,021 L957P probably damaging Het
Ttn A G 2: 76,782,101 probably benign Het
Ubqln1 A T 13: 58,179,667 probably null Het
Wdfy3 A C 5: 101,896,588 probably benign Het
Other mutations in Tfdp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R0329:Tfdp2 UTSW 9 96306893 missense probably damaging 1.00
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
Posted On2013-12-09