Incidental Mutation 'IGL01804:Dpf1'
ID155611
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? Non essential (E-score: 0.000) question?
Stock #IGL01804
Quality Score
Status
Chromosome7
Chromosomal Location29303951-29318243 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 29316501 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 383 (C383S)
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: C373S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054385
Gene: ENSMUSG00000030584
AA Change: C373S

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: C372S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000070539
Gene: ENSMUSG00000030584
AA Change: C372S

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: C338S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103865
Gene: ENSMUSG00000030584
AA Change: C338S

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: C383S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103866
Gene: ENSMUSG00000030584
AA Change: C383S

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,276,183 N1860D probably benign Het
Abca2 T A 2: 25,446,625 C2248S probably damaging Het
Adamts16 G A 13: 70,800,961 Q194* probably null Het
Cetn3 A T 13: 81,784,660 K13* probably null Het
Cldn18 T A 9: 99,698,848 K116* probably null Het
Cntn5 T A 9: 9,831,537 I613F probably damaging Het
Cyp46a1 A G 12: 108,355,486 I324V probably benign Het
Ddb1 A C 19: 10,613,018 E303A probably damaging Het
Dnajc2 A G 5: 21,757,363 V539A probably damaging Het
Dock2 T A 11: 34,262,433 Y1236F probably benign Het
Edc4 T A 8: 105,890,657 I1052N possibly damaging Het
Ehmt1 A G 2: 24,791,954 L1243P probably damaging Het
Exoc6b A G 6: 84,908,166 S264P probably damaging Het
Gbx2 T C 1: 89,928,981 E229G probably benign Het
Hip1r T A 5: 124,001,550 probably null Het
Lig1 A G 7: 13,309,206 K859E probably benign Het
Ly6g6f T C 17: 35,081,170 D234G possibly damaging Het
Mmp11 G T 10: 75,928,470 L54I probably benign Het
Naip5 A T 13: 100,221,584 L1048Q probably damaging Het
Olfr1228 C A 2: 89,249,222 M157I probably benign Het
Olfr146 T C 9: 39,019,401 I47V probably benign Het
Olfr427 A G 1: 174,099,835 I126V probably damaging Het
Olfr834 T A 9: 18,988,840 M284K probably benign Het
Pappa2 T C 1: 158,936,519 D474G probably benign Het
Plxna1 A G 6: 89,329,646 Y1401H probably damaging Het
Prrg4 T A 2: 104,832,690 E190D probably damaging Het
Rnf213 T C 11: 119,442,266 F2767S probably damaging Het
Scgb1b2 T A 7: 31,291,730 probably benign Het
Sec31a A G 5: 100,375,206 probably null Het
Slc12a4 A G 8: 105,944,401 S1014P probably damaging Het
Spns2 A T 11: 72,457,304 I279N possibly damaging Het
Spta1 A T 1: 174,244,180 H2242L probably benign Het
Tcaf3 T A 6: 42,597,129 I50F probably damaging Het
Tnfaip8l1 G A 17: 56,172,214 S168N probably benign Het
Trak1 C T 9: 121,442,685 probably benign Het
Trpv4 A T 5: 114,644,786 N38K possibly damaging Het
Ube2o T C 11: 116,544,373 T530A probably benign Het
Vmn2r2 A G 3: 64,134,256 V346A possibly damaging Het
Vmn2r86 A C 10: 130,452,989 D214E probably damaging Het
Wwc1 C A 11: 35,841,924 D986Y probably damaging Het
Xdh T C 17: 73,892,759 D1184G probably 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
IGL01942:Dpf1 APN 7 29316502 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
R7240:Dpf1 UTSW 7 29311627 missense probably benign 0.01
R7796:Dpf1 UTSW 7 29311681 missense possibly damaging 0.69
Posted On2014-02-04