Incidental Mutation 'R1104:Dpf3'
ID98388
Institutional Source Beutler Lab
Gene Symbol Dpf3
Ensembl Gene ENSMUSG00000021221
Gene NameD4, zinc and double PHD fingers, family 3
Synonymscer-d4, 2810403B03Rik, CERD4
MMRRC Submission 039177-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.258) question?
Stock #R1104 (G1)
Quality Score225
Status Validated
Chromosome12
Chromosomal Location83213745-83487716 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83331987 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 101 (V101A)
Ref Sequence ENSEMBL: ENSMUSP00000137477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177801] [ENSMUST00000177959] [ENSMUST00000178756]
Predicted Effect unknown
Transcript: ENSMUST00000133282
AA Change: V36A
SMART Domains Protein: ENSMUSP00000121199
Gene: ENSMUSG00000021221
AA Change: V36A

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 unknown
Transcript: ENSMUST00000144237
AA Change: V37A
SMART Domains Protein: ENSMUSP00000122004
Gene: ENSMUSG00000021221
AA Change: V37A

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 unknown
Transcript: ENSMUST00000147469
AA Change: V37A
SMART Domains Protein: ENSMUSP00000122598
Gene: ENSMUSG00000021221
AA Change: V37A

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: V60A
SMART Domains Protein: ENSMUSP00000136740
Gene: ENSMUSG00000021221
AA Change: V60A

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 probably benign
Transcript: ENSMUST00000177959
AA Change: V101A

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000137477
Gene: ENSMUSG00000021221
AA Change: V101A

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
AA Change: V102A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000136280
Gene: ENSMUSG00000021221
AA Change: V102A

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 0.094 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 99% (70/71)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 184,033,505 S119N probably benign Het
4430402I18Rik T C 19: 28,967,632 M1V probably null Het
4930550C14Rik A G 9: 53,421,617 I93V probably benign Het
Abcg5 A C 17: 84,682,049 I77S possibly damaging Het
Adam3 T C 8: 24,681,529 Y762C probably benign Het
Agap1 T C 1: 89,789,240 S26P probably damaging Het
Ago1 T C 4: 126,453,633 Y441C probably damaging Het
B3gnt3 A G 8: 71,693,837 L16S possibly damaging Het
Btaf1 T A 19: 37,004,602 D1677E probably damaging Het
Cd5l T A 3: 87,360,899 S18T probably benign Het
Cdca2 T A 14: 67,693,682 R521W probably damaging Het
Cfap61 C A 2: 145,951,061 S64* probably null Het
Cryzl2 T A 1: 157,470,604 probably benign Het
Cul7 T A 17: 46,663,190 L1467H probably damaging Het
Dhrs1 T C 14: 55,743,705 K83E probably benign Het
Dmrt2 T A 19: 25,678,616 F526L probably benign Het
Dnajb14 T A 3: 137,908,354 M342K possibly damaging Het
Dthd1 A C 5: 62,821,959 T321P probably damaging Het
Flt4 C T 11: 49,636,339 probably benign Het
Fras1 G A 5: 96,708,671 R1971Q probably benign Het
Fry A G 5: 150,496,289 N608S probably damaging Het
Gabrr3 T A 16: 59,461,635 V451D probably damaging Het
Glg1 A G 8: 111,197,603 L251P probably benign Het
Gli2 T A 1: 118,853,350 S222C probably damaging Het
Gm340 G T 19: 41,586,063 G1086C probably damaging Het
Gsr A G 8: 33,669,921 E99G probably damaging Het
Hist1h1b T C 13: 21,780,281 T92A possibly damaging Het
Hlx G T 1: 184,731,987 A52D probably damaging Het
Hus1b T C 13: 30,947,696 probably benign Het
Igf1r T A 7: 68,195,026 I849N possibly damaging Het
Itih5 A G 2: 10,251,512 T930A probably benign Het
Ivns1abp T A 1: 151,360,109 M309K probably benign Het
Kdm3b T A 18: 34,819,811 F1078Y probably damaging Het
Krt12 C A 11: 99,421,966 G84V unknown Het
Krt40 T G 11: 99,540,233 E150A probably damaging Het
Lcn11 G T 2: 25,779,103 probably benign Het
Liph A G 16: 21,984,148 I57T possibly damaging Het
Lrrc46 C T 11: 97,036,171 V107M probably damaging Het
Ltb4r1 T C 14: 55,767,375 I45T probably damaging Het
Mapkbp1 A G 2: 120,011,073 probably benign Het
Mark3 C T 12: 111,618,397 probably benign Het
Mug2 C T 6: 122,059,055 A642V probably benign Het
Myh11 A G 16: 14,202,127 S1814P possibly damaging Het
Ndst1 T A 18: 60,697,146 S631C probably damaging Het
Nrbf2 A T 10: 67,267,912 D137E possibly damaging Het
Olfr630 A G 7: 103,754,976 V203A probably benign Het
Olfr698 A T 7: 106,752,782 M202K probably benign Het
Olfr784 T A 10: 129,388,221 M196K probably benign Het
Parn A G 16: 13,667,585 Y16H probably damaging Het
Parp14 A G 16: 35,844,415 probably benign Het
Prl3d1 C T 13: 27,100,009 T187I probably benign Het
Ptgir G A 7: 16,907,130 probably null Het
Rabgap1l C T 1: 160,231,875 probably benign Het
Rims4 C T 2: 163,863,929 V262M possibly damaging Het
Rnf213 T C 11: 119,477,229 Y4697H probably benign Het
Rps6ka4 T A 19: 6,830,996 I598F probably damaging Het
Ryr2 C T 13: 11,669,969 V3029M probably damaging Het
Slc17a2 T C 13: 23,819,937 F335S probably damaging Het
Stau2 A T 1: 16,440,361 Y124* probably null Het
Tbl3 A G 17: 24,701,606 I652T probably benign Het
Trappc3 C T 4: 126,272,966 probably benign Het
Trim60 A T 8: 65,001,419 F59L probably benign Het
Ugcg C T 4: 59,207,798 P46S probably benign Het
Ush2a T C 1: 188,916,256 F4686S probably benign Het
Vcan T C 13: 89,692,410 T1672A probably damaging Het
Vmn1r215 T A 13: 23,076,588 I266N possibly damaging Het
Vmn2r6 A T 3: 64,538,066 V657E possibly damaging Het
Wdr95 G T 5: 149,606,337 A548S probably benign Het
Zfp12 A G 5: 143,245,745 Y609C probably damaging Het
Znfx1 C A 2: 167,055,640 E455* probably null Het
Other mutations in Dpf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01452:Dpf3 APN 12 83269489 missense probably benign
IGL01719:Dpf3 APN 12 83294433 missense probably damaging 0.99
IGL01950:Dpf3 APN 12 83324949 missense probably benign 0.00
R0457:Dpf3 UTSW 12 83272405 missense probably damaging 0.96
R1565:Dpf3 UTSW 12 83370617 missense probably damaging 0.98
R1969:Dpf3 UTSW 12 83325035 critical splice acceptor site probably null
R1970:Dpf3 UTSW 12 83325035 critical splice acceptor site probably null
R1971:Dpf3 UTSW 12 83325035 critical splice acceptor site probably null
R2344:Dpf3 UTSW 12 83350820 missense probably damaging 1.00
R3732:Dpf3 UTSW 12 83269507 missense possibly damaging 0.90
R4828:Dpf3 UTSW 12 83294499 missense possibly damaging 0.89
R4936:Dpf3 UTSW 12 83331966 missense probably damaging 1.00
R4970:Dpf3 UTSW 12 83370611 nonsense probably null
R4993:Dpf3 UTSW 12 83331861 critical splice donor site probably null
R5112:Dpf3 UTSW 12 83370611 nonsense probably null
R5182:Dpf3 UTSW 12 83370596 missense probably damaging 0.99
R5638:Dpf3 UTSW 12 83324940 missense probably damaging 1.00
R5657:Dpf3 UTSW 12 83325011 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CTGGCAACAGTGTCACTAAGGACC -3'
(R):5'- CTGGCAGAAGCAACTCTGAGTCTC -3'

Sequencing Primer
(F):5'- CATGGCACAGAGGCAGC -3'
(R):5'- ttctgcctcagcttgctc -3'
Posted On2014-01-05