Incidental Mutation 'R3732:Dpf3'
ID 356391
Institutional Source Beutler Lab
Gene Symbol Dpf3
Ensembl Gene ENSMUSG00000021221
Gene Name double PHD fingers 3
Synonyms cer-d4, CERD4, 2810403B03Rik, Gm18872
MMRRC Submission 040720-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.488) question?
Stock # R3732 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 83260519-83534490 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83316281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 330 (D330G)
Ref Sequence ENSEMBL: ENSMUSP00000137477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140327] [ENSMUST00000177801] [ENSMUST00000177959] [ENSMUST00000178756]
AlphaFold P58269
Predicted Effect unknown
Transcript: ENSMUST00000133282
AA Change: D265G
SMART Domains Protein: ENSMUSP00000121199
Gene: ENSMUSG00000021221
AA Change: D265G

DomainStartEndE-ValueType
low complexity region 80 100 N/A INTRINSIC
low complexity region 106 124 N/A INTRINSIC
ZnF_C2H2 133 156 1.82e-3 SMART
PDB:2KWO|A 195 227 2e-14 PDB
Blast:PHD 196 227 5e-14 BLAST
low complexity region 230 246 N/A INTRINSIC
low complexity region 272 283 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140327
SMART Domains Protein: ENSMUSP00000120700
Gene: ENSMUSG00000021221

DomainStartEndE-ValueType
PDB:2KWO|A 35 75 2e-16 PDB
Blast:PHD 36 75 8e-16 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000144237
AA Change: D266G
SMART Domains Protein: ENSMUSP00000122004
Gene: ENSMUSG00000021221
AA Change: D266G

DomainStartEndE-ValueType
low complexity region 81 101 N/A INTRINSIC
low complexity region 107 125 N/A INTRINSIC
ZnF_C2H2 134 157 1.82e-3 SMART
PDB:2KWO|A 196 228 2e-14 PDB
Blast:PHD 197 228 5e-14 BLAST
low complexity region 231 247 N/A INTRINSIC
low complexity region 273 284 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147469
SMART Domains Protein: ENSMUSP00000122598
Gene: ENSMUSG00000021221

DomainStartEndE-ValueType
low complexity region 81 101 N/A INTRINSIC
low complexity region 107 125 N/A INTRINSIC
ZnF_C2H2 134 157 1.82e-3 SMART
PHD 197 253 3.27e-9 SMART
RING 198 252 3.44e0 SMART
PHD 254 300 1.53e-9 SMART
RING 255 299 1.38e0 SMART
Predicted Effect unknown
Transcript: ENSMUST00000177801
AA Change: D289G
SMART Domains Protein: ENSMUSP00000136740
Gene: ENSMUSG00000021221
AA Change: D289G

DomainStartEndE-ValueType
Pfam:Requiem_N 8 43 2.9e-13 PFAM
low complexity region 103 123 N/A INTRINSIC
low complexity region 129 147 N/A INTRINSIC
ZnF_C2H2 156 179 1.82e-3 SMART
PDB:2KWO|A 218 250 4e-14 PDB
Blast:PHD 219 250 9e-14 BLAST
low complexity region 253 269 N/A INTRINSIC
low complexity region 295 306 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000177959
AA Change: D330G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137477
Gene: ENSMUSG00000021221
AA Change: D330G

DomainStartEndE-ValueType
Pfam:Requiem_N 12 85 2.6e-40 PFAM
low complexity region 144 164 N/A INTRINSIC
low complexity region 170 188 N/A INTRINSIC
ZnF_C2H2 197 220 1.82e-3 SMART
PDB:2KWO|A 259 291 4e-14 PDB
Blast:PHD 260 291 1e-13 BLAST
low complexity region 294 310 N/A INTRINSIC
low complexity region 336 347 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178756
SMART Domains Protein: ENSMUSP00000136280
Gene: ENSMUSG00000021221

DomainStartEndE-ValueType
Pfam:Requiem_N 13 84 4.8e-40 PFAM
low complexity region 145 165 N/A INTRINSIC
low complexity region 171 189 N/A INTRINSIC
ZnF_C2H2 198 221 1.82e-3 SMART
PHD 261 317 3.27e-9 SMART
RING 262 316 3.44e0 SMART
PHD 318 364 1.53e-9 SMART
RING 319 363 1.38e0 SMART
Meta Mutation Damage Score 0.0600 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 93% (56/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the D4 protein family. The encoded protein is a transcription regulator that binds acetylated histones and is a component of the BAF chromatin remodeling complex. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null allele display no detectable phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Aacs C T 5: 125,583,326 (GRCm39) T294M probably damaging Het
Ablim1 A T 19: 57,037,892 (GRCm39) probably null Het
Adgrf4 C T 17: 42,983,472 (GRCm39) G70E probably damaging Het
Adgrl3 C A 5: 81,942,793 (GRCm39) H1474Q probably benign Het
Adgrv1 T C 13: 81,705,075 (GRCm39) I1578M probably damaging Het
Afg3l1 G A 8: 124,227,972 (GRCm39) G547D probably damaging Het
Ambra1 G A 2: 91,640,476 (GRCm39) R635H probably damaging Het
Araf TACACACACACACACACA TACACACACACACACA X: 20,716,465 (GRCm39) probably benign Het
Arhgef10l AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA 4: 140,308,930 (GRCm39) probably benign Het
Bcl7b A G 5: 135,209,767 (GRCm39) T141A probably benign Het
Calm5 T A 13: 3,904,337 (GRCm39) N10K probably damaging Het
Camsap1 T C 2: 25,828,356 (GRCm39) R1123G probably damaging Het
Cfap97d1 C T 11: 101,879,278 (GRCm39) Q17* probably null Het
Chrna3 T C 9: 54,923,178 (GRCm39) K210R probably benign Het
Ciz1 A G 2: 32,257,495 (GRCm39) N180S possibly damaging Het
Cntnap3 G A 13: 64,888,813 (GRCm39) A1162V possibly damaging Het
Cox5b C T 1: 36,732,341 (GRCm39) P114L probably damaging Het
Cpsf2 T C 12: 101,953,567 (GRCm39) I199T probably damaging Het
Cyp2a4 A G 7: 26,012,252 (GRCm39) D345G probably damaging Het
Cyp2s1 C T 7: 25,503,379 (GRCm39) R424Q probably null Het
D1Pas1 C A 1: 186,700,294 (GRCm39) S74R probably benign Het
Ddx4 T A 13: 112,748,516 (GRCm39) I487F possibly damaging Het
Dnah5 A T 15: 28,409,268 (GRCm39) E3562V possibly damaging Het
Edem1 T C 6: 108,818,582 (GRCm39) F197L probably damaging Het
Eeig1 G A 2: 32,456,304 (GRCm39) S322N probably benign Het
Ergic2 T C 6: 148,104,020 (GRCm39) D79G probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fam111a T C 19: 12,564,914 (GRCm39) L221P possibly damaging Het
Fat1 T C 8: 45,406,306 (GRCm39) V1019A possibly damaging Het
Fbxl21 T A 13: 56,674,830 (GRCm39) H60Q probably benign Het
Fbxw7 A C 3: 84,833,014 (GRCm39) K19Q possibly damaging Het
Gldn A G 9: 54,245,946 (GRCm39) K499R possibly damaging Het
Gria4 C T 9: 4,513,295 (GRCm39) M271I probably benign Het
Herc1 C T 9: 66,352,922 (GRCm39) T2136I probably damaging Het
Igsf10 A G 3: 59,233,135 (GRCm39) F1866S probably benign Het
Iqcg G T 16: 32,873,996 (GRCm39) probably benign Het
Itih2 A T 2: 10,110,481 (GRCm39) F537I probably benign Het
Itpr2 T C 6: 146,284,198 (GRCm39) D533G probably damaging Het
Kcnk15 A G 2: 163,695,733 (GRCm39) K22E probably benign Het
Lag3 A T 6: 124,887,103 (GRCm39) S155T probably benign Het
Lars1 T C 18: 42,345,667 (GRCm39) E1003G probably benign Het
Layn T A 9: 50,970,844 (GRCm39) N233I probably damaging Het
Ldhb-ps T G 19: 21,915,616 (GRCm39) noncoding transcript Het
Lgi1 T C 19: 38,294,694 (GRCm39) Y465H probably damaging Het
Lrig1 C T 6: 94,588,557 (GRCm39) A531T possibly damaging Het
Lrrtm4 A G 6: 79,996,638 (GRCm39) probably benign Het
Lsamp T A 16: 41,964,935 (GRCm39) L264H probably damaging Het
Mthfd2 T C 6: 83,290,457 (GRCm39) E39G probably damaging Het
Mtx2 C A 2: 74,677,606 (GRCm39) A22E probably damaging Het
Nipal3 T C 4: 135,191,157 (GRCm39) T325A probably damaging Het
Nlrp14 A T 7: 106,781,574 (GRCm39) Y257F probably benign Het
Ola1 G C 2: 72,987,204 (GRCm39) R143G probably damaging Het
Or14c44 T G 7: 86,061,841 (GRCm39) I90M probably damaging Het
Otog A G 7: 45,937,792 (GRCm39) T1834A probably benign Het
Oxr1 T C 15: 41,712,097 (GRCm39) I656T probably damaging Het
Panx1 GTTCTTCT GTTCT 9: 14,917,467 (GRCm39) probably benign Het
Pcdh18 T C 3: 49,709,240 (GRCm39) S692G probably benign Het
Pcdhga1 A G 18: 37,797,176 (GRCm39) T727A probably benign Het
Pde9a A G 17: 31,667,401 (GRCm39) E3G possibly damaging Het
Prl8a1 T C 13: 27,763,716 (GRCm39) E37G probably damaging Het
Rlf C T 4: 121,005,521 (GRCm39) G1153D probably benign Het
Robo2 A C 16: 73,717,635 (GRCm39) L1159W possibly damaging Het
Sfxn5 T C 6: 85,276,258 (GRCm39) probably benign Het
Siah2 A G 3: 58,583,671 (GRCm39) V205A probably damaging Het
Spindoc A C 19: 7,351,666 (GRCm39) L202R probably damaging Het
Spock3 T A 8: 63,798,733 (GRCm39) D251E probably damaging Het
Srp68 T A 11: 116,164,782 (GRCm39) K51* probably null Het
Ssbp2 T C 13: 91,672,726 (GRCm39) Y29H probably damaging Het
Sspo T C 6: 48,426,864 (GRCm39) V231A probably damaging Het
Stk4 T A 2: 163,930,828 (GRCm39) M143K probably benign Het
Tecta C T 9: 42,303,402 (GRCm39) V77M possibly damaging Het
Trpc3 A T 3: 36,692,708 (GRCm39) D761E probably benign Het
Tubb2a T C 13: 34,259,247 (GRCm39) E181G probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ush2a C A 1: 188,676,957 (GRCm39) N4756K probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Wapl G A 14: 34,458,721 (GRCm39) V928I probably damaging Het
Zfand3 A G 17: 30,411,630 (GRCm39) K130R probably benign Het
Zfp934 A T 13: 62,665,599 (GRCm39) H347Q probably damaging Het
Other mutations in Dpf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01452:Dpf3 APN 12 83,316,263 (GRCm39) missense probably benign
IGL01719:Dpf3 APN 12 83,341,207 (GRCm39) missense probably damaging 0.99
IGL01950:Dpf3 APN 12 83,371,723 (GRCm39) missense probably benign 0.00
R0457:Dpf3 UTSW 12 83,319,179 (GRCm39) missense probably damaging 0.96
R1104:Dpf3 UTSW 12 83,378,761 (GRCm39) missense probably benign 0.30
R1565:Dpf3 UTSW 12 83,417,391 (GRCm39) missense probably damaging 0.98
R1969:Dpf3 UTSW 12 83,371,809 (GRCm39) critical splice acceptor site probably null
R1970:Dpf3 UTSW 12 83,371,809 (GRCm39) critical splice acceptor site probably null
R1971:Dpf3 UTSW 12 83,371,809 (GRCm39) critical splice acceptor site probably null
R2344:Dpf3 UTSW 12 83,397,594 (GRCm39) missense probably damaging 1.00
R4828:Dpf3 UTSW 12 83,341,273 (GRCm39) missense possibly damaging 0.89
R4936:Dpf3 UTSW 12 83,378,740 (GRCm39) missense probably damaging 1.00
R4970:Dpf3 UTSW 12 83,417,385 (GRCm39) nonsense probably null
R4993:Dpf3 UTSW 12 83,378,635 (GRCm39) critical splice donor site probably null
R5112:Dpf3 UTSW 12 83,417,385 (GRCm39) nonsense probably null
R5182:Dpf3 UTSW 12 83,417,370 (GRCm39) missense probably damaging 0.99
R5638:Dpf3 UTSW 12 83,371,714 (GRCm39) missense probably damaging 1.00
R5657:Dpf3 UTSW 12 83,371,785 (GRCm39) missense probably damaging 0.98
R7472:Dpf3 UTSW 12 83,319,159 (GRCm39) missense probably benign 0.37
R7481:Dpf3 UTSW 12 83,378,701 (GRCm39) missense probably damaging 1.00
R8350:Dpf3 UTSW 12 83,397,625 (GRCm39) missense probably damaging 1.00
R9340:Dpf3 UTSW 12 83,534,449 (GRCm39) critical splice donor site probably null
R9634:Dpf3 UTSW 12 83,378,635 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GGAAATGCCCAAGTTGTCTTTC -3'
(R):5'- GTGATGTACCCGGTTAGTCC -3'

Sequencing Primer
(F):5'- ACAATGACCAGAGTCAGG -3'
(R):5'- GGTCTAACACTGGCTTATTATCTTG -3'
Posted On 2015-11-11