Incidental Mutation 'IGL01942:Dpf1'
ID180875
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpf1
Ensembl Gene ENSMUSG00000030584
Gene NameD4, zinc and double PHD fingers family 1
Synonymsneuro-d4, Neud4
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.545) question?
Stock #IGL01942
Quality Score
Status
Chromosome7
Chromosomal Location29303951-29318243 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 29316502 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 383 (C383Y)
Ref Sequence ENSEMBL: ENSMUSP00000103866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049977] [ENSMUST00000065181] [ENSMUST00000085809] [ENSMUST00000108230] [ENSMUST00000108231] [ENSMUST00000183096]
Predicted Effect probably damaging
Transcript: ENSMUST00000049977
AA Change: C373Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054385
Gene: ENSMUSG00000030584
AA Change: C373Y

DomainStartEndE-ValueType
Pfam:Requiem_N 12 85 1.6e-39 PFAM
ZnF_C2H2 196 219 2.4e-3 SMART
PHD 274 327 8.98e-7 SMART
RING 275 326 1.06e1 SMART
PHD 328 374 2.6e-12 SMART
RING 329 373 8.53e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000065181
AA Change: C372Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070539
Gene: ENSMUSG00000030584
AA Change: C372Y

DomainStartEndE-ValueType
Pfam:Requiem_N 11 84 2e-39 PFAM
ZnF_C2H2 195 218 2.4e-3 SMART
PHD 273 326 8.98e-7 SMART
RING 274 325 1.06e1 SMART
PHD 327 373 2.6e-12 SMART
RING 328 372 8.53e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000085809
SMART Domains Protein: ENSMUSP00000082965
Gene: ENSMUSG00000030583

DomainStartEndE-ValueType
low complexity region 54 69 N/A INTRINSIC
low complexity region 361 380 N/A INTRINSIC
low complexity region 407 419 N/A INTRINSIC
Pfam:Rap_GAP 634 816 1.7e-68 PFAM
PDZ 969 1035 1.39e-8 SMART
low complexity region 1053 1064 N/A INTRINSIC
low complexity region 1190 1201 N/A INTRINSIC
low complexity region 1260 1277 N/A INTRINSIC
low complexity region 1283 1294 N/A INTRINSIC
Pfam:SPAR_C 1471 1721 1.6e-96 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108230
AA Change: C338Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103865
Gene: ENSMUSG00000030584
AA Change: C338Y

DomainStartEndE-ValueType
Pfam:Requiem_N 11 84 9.7e-40 PFAM
PHD 229 282 8.98e-7 SMART
RING 230 281 1.06e1 SMART
PHD 283 339 6.85e-12 SMART
RING 284 338 9.5e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108231
AA Change: C383Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103866
Gene: ENSMUSG00000030584
AA Change: C383Y

DomainStartEndE-ValueType
Pfam:Requiem_N 13 84 1.2e-39 PFAM
ZnF_C2H2 196 219 2.4e-3 SMART
PHD 274 327 8.98e-7 SMART
RING 275 326 1.06e1 SMART
PHD 328 384 6.85e-12 SMART
RING 329 383 9.5e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126169
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128145
Predicted Effect probably benign
Transcript: ENSMUST00000137848
SMART Domains Protein: ENSMUSP00000120956
Gene: ENSMUSG00000030584

DomainStartEndE-ValueType
Pfam:Requiem_N 1 40 8.9e-20 PFAM
ZnF_C2H2 122 143 5.34e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138993
Predicted Effect probably benign
Transcript: ENSMUST00000142958
SMART Domains Protein: ENSMUSP00000117186
Gene: ENSMUSG00000030584

DomainStartEndE-ValueType
ZnF_C2H2 21 44 2.4e-3 SMART
PHD 82 135 8.98e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182223
Predicted Effect probably benign
Transcript: ENSMUST00000183096
SMART Domains Protein: ENSMUSP00000138171
Gene: ENSMUSG00000030583

DomainStartEndE-ValueType
low complexity region 54 69 N/A INTRINSIC
low complexity region 361 380 N/A INTRINSIC
low complexity region 407 419 N/A INTRINSIC
Pfam:Rap_GAP 634 822 6.7e-64 PFAM
PDZ 969 1035 1.39e-8 SMART
low complexity region 1053 1064 N/A INTRINSIC
low complexity region 1190 1201 N/A INTRINSIC
low complexity region 1260 1277 N/A INTRINSIC
low complexity region 1283 1294 N/A INTRINSIC
Pfam:DUF3401 1471 1721 7.2e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207677
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G A 7: 45,986,573 R1017W possibly damaging Het
Arhgef26 A G 3: 62,340,094 R200G probably benign Het
Arid4b A T 13: 14,136,164 probably benign Het
Atp1a2 A C 1: 172,286,309 S369A probably benign Het
Bag3 T A 7: 128,546,300 D546E probably benign Het
Bcl6b T A 11: 70,226,743 Y379F probably damaging Het
Cbln2 T C 18: 86,716,325 V136A probably benign Het
Ccnf A T 17: 24,242,320 D120E probably benign Het
Cd14 T A 18: 36,725,640 H254L possibly damaging Het
Chd3 A G 11: 69,350,105 probably null Het
Csf2rb G A 15: 78,340,492 R150H probably benign Het
Dhx35 T C 2: 158,831,864 L405P probably damaging Het
Dse T A 10: 34,155,993 Q345L probably benign Het
Gnaz A G 10: 75,014,874 M244V probably damaging Het
Gpr65 A T 12: 98,275,715 Y209F possibly damaging Het
Inpp5f T C 7: 128,667,769 I281T probably damaging Het
Kntc1 T C 5: 123,778,267 F721S probably damaging Het
Mapk8ip2 G A 15: 89,457,017 probably null Het
Med24 G A 11: 98,709,682 R646W probably damaging Het
Nup98 A T 7: 102,194,711 F102Y probably damaging Het
Olfr1260 G T 2: 89,977,978 V67L probably benign Het
Olfr150 A T 9: 39,737,666 M284L possibly damaging Het
Olfr354 A G 2: 36,907,857 M304V probably benign Het
Pgap3 T C 11: 98,397,954 Y125C probably damaging Het
Rasl12 T C 9: 65,408,362 V96A probably damaging Het
Rbm20 G A 19: 53,813,443 M127I probably damaging Het
Rnf114 T A 2: 167,512,626 probably null Het
Serpinb1b C T 13: 33,085,311 T9I possibly damaging Het
Setd1b T A 5: 123,163,426 F16I possibly damaging Het
Slc25a28 A G 19: 43,664,508 F238S probably damaging Het
Slc2a2 T C 3: 28,705,803 V30A probably damaging Het
Slc35f4 T C 14: 49,525,505 probably benign Het
Socs4 T A 14: 47,290,650 C347* probably null Het
Spock1 C T 13: 57,430,328 E367K probably damaging Het
Ubap2 C T 4: 41,251,608 R8H probably benign Het
Vmn1r44 T A 6: 89,893,824 M41K probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp575 T C 7: 24,585,815 T134A possibly damaging Het
Other mutations in Dpf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00478:Dpf1 APN 7 29316556 unclassified probably benign
IGL00736:Dpf1 APN 7 29312908 nonsense probably null
IGL01804:Dpf1 APN 7 29316501 missense probably damaging 1.00
IGL01953:Dpf1 APN 7 29314307 missense probably damaging 1.00
IGL03191:Dpf1 APN 7 29316561 unclassified probably benign
R3622:Dpf1 UTSW 7 29316206 unclassified probably null
R3924:Dpf1 UTSW 7 29311673 missense possibly damaging 0.76
R4234:Dpf1 UTSW 7 29315632 missense probably damaging 1.00
R4606:Dpf1 UTSW 7 29316590 unclassified probably benign
R5379:Dpf1 UTSW 7 29304108 missense probably benign 0.02
R5434:Dpf1 UTSW 7 29311331 missense possibly damaging 0.92
R6185:Dpf1 UTSW 7 29311271 missense possibly damaging 0.92
R6672:Dpf1 UTSW 7 29316268 missense probably damaging 1.00
R6816:Dpf1 UTSW 7 29311662 missense possibly damaging 0.61
Posted On2014-05-07