Incidental Mutation 'IGL01950:Dpf3'
ID181287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpf3
Ensembl Gene ENSMUSG00000021221
Gene NameD4, zinc and double PHD fingers, family 3
Synonymscer-d4, 2810403B03Rik, CERD4
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.360) question?
Stock #IGL01950
Quality Score
Status
Chromosome12
Chromosomal Location83213745-83487716 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 83324949 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 171 (T171P)
Ref Sequence ENSEMBL: ENSMUSP00000137477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177801] [ENSMUST00000177959] [ENSMUST00000178756]
Predicted Effect unknown
Transcript: ENSMUST00000133282
AA Change: T106P
SMART Domains Protein: ENSMUSP00000121199
Gene: ENSMUSG00000021221
AA Change: T106P

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: T107P
SMART Domains Protein: ENSMUSP00000122004
Gene: ENSMUSG00000021221
AA Change: T107P

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: T107P
SMART Domains Protein: ENSMUSP00000122598
Gene: ENSMUSG00000021221
AA Change: T107P

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: T130P
SMART Domains Protein: ENSMUSP00000136740
Gene: ENSMUSG00000021221
AA Change: T130P

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: T171P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137477
Gene: ENSMUSG00000021221
AA Change: T171P

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: T172P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136280
Gene: ENSMUSG00000021221
AA Change: T172P

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
Coding Region Coverage
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm G A 7: 110,628,900 R96H probably damaging Het
Aebp1 C T 11: 5,869,108 T198I probably benign Het
Arhgap8 G A 15: 84,766,349 A237T probably benign Het
Arid3b A T 9: 57,794,974 I500N probably damaging Het
Clec1b T A 6: 129,400,080 W29R probably damaging Het
Cyp2e1 T C 7: 140,764,961 probably null Het
Dnah5 A G 15: 28,290,289 E1275G probably null Het
Dnajc13 A T 9: 104,190,432 I1171N possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Hk1 T C 10: 62,315,394 D57G probably damaging Het
Kcnc2 T G 10: 112,462,075 probably benign Het
Kcnj11 A T 7: 46,099,149 F250Y probably damaging Het
Kirrel3 C T 9: 35,028,329 probably benign Het
Lmbrd1 T C 1: 24,711,602 probably null Het
Mga T C 2: 119,941,654 V1665A possibly damaging Het
Ms4a3 G T 19: 11,632,835 A121E probably damaging Het
Nfix T C 8: 84,713,786 *392W probably null Het
Noxred1 C T 12: 87,221,416 V314M probably damaging Het
Olfr328 A T 11: 58,551,734 C168* probably null Het
Olfr611 T A 7: 103,518,265 T40S probably benign Het
Phospho1 A G 11: 95,828,722 probably benign Het
Rev3l C T 10: 39,821,157 T550M probably damaging Het
Sbf2 A G 7: 110,365,825 F955L probably benign Het
Slc38a9 C T 13: 112,695,253 T179M probably damaging Het
Trpv5 T G 6: 41,675,978 D87A probably benign Het
Tubgcp5 A G 7: 55,806,088 Q288R possibly damaging Het
Uqcc1 A G 2: 155,858,138 Y172H probably damaging Het
Vmn2r23 T C 6: 123,741,886 F733L possibly damaging Het
Vmn2r71 A G 7: 85,615,619 Y53C probably damaging Het
Vwa5a T A 9: 38,726,970 M263K probably damaging Het
Zfp503 C A 14: 21,986,420 A143S probably benign Het
Zfp958 T C 8: 4,628,917 L314P probably damaging 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
R0457:Dpf3 UTSW 12 83272405 missense probably damaging 0.96
R1104:Dpf3 UTSW 12 83331987 missense probably benign 0.30
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
R7472:Dpf3 UTSW 12 83272385 missense probably benign 0.37
R7481:Dpf3 UTSW 12 83331927 missense probably damaging 1.00
Posted On2014-05-07