Incidental Mutation 'IGL01452:Dpf3'
| ID |
84667 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dpf3
|
| Ensembl Gene |
ENSMUSG00000021221 |
| Gene Name |
double PHD fingers 3 |
| Synonyms |
cer-d4, CERD4, 2810403B03Rik, Gm18872 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.488)
|
| Stock # |
IGL01452
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
83260519-83534490 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 83316263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 336
(R336L)
|
| 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: R271L
|
| SMART Domains |
Protein: ENSMUSP00000121199
Gene: ENSMUSG00000021221
AA Change: R271L
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KWO|A
|
35 |
75 |
2e-16 |
PDB |
|
Blast:PHD
|
36 |
75 |
8e-16 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000144237
AA Change: R272L
|
| SMART Domains |
Protein: ENSMUSP00000122004
Gene: ENSMUSG00000021221
AA Change: R272L
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: R295L
|
| SMART Domains |
Protein: ENSMUSP00000136740
Gene: ENSMUSG00000021221
AA Change: R295L
| Domain | Start | End | E-Value | Type |
|---|
|
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: R336L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137477
Gene: ENSMUSG00000021221
AA Change: R336L
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bltp1 |
T |
A |
3: 37,050,457 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,733,515 (GRCm39) |
N344D |
probably damaging |
Het |
| Cd300ld2 |
G |
A |
11: 114,903,428 (GRCm39) |
|
probably benign |
Het |
| Ddx19b |
A |
G |
8: 111,747,620 (GRCm39) |
S105P |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,836,181 (GRCm39) |
S720P |
probably damaging |
Het |
| Foxj3 |
T |
C |
4: 119,478,825 (GRCm39) |
L427P |
unknown |
Het |
| Hdac11 |
A |
G |
6: 91,144,843 (GRCm39) |
D157G |
probably damaging |
Het |
| Klk13 |
G |
T |
7: 43,376,060 (GRCm39) |
R245L |
possibly damaging |
Het |
| Med25 |
C |
T |
7: 44,532,255 (GRCm39) |
M367I |
possibly damaging |
Het |
| Mindy3 |
G |
A |
2: 12,360,083 (GRCm39) |
|
probably benign |
Het |
| Mtf2 |
C |
T |
5: 108,228,809 (GRCm39) |
P42S |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,371,292 (GRCm39) |
L3269F |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Pcnx2 |
A |
G |
8: 126,564,771 (GRCm39) |
S1041P |
probably damaging |
Het |
| Pcnx4 |
G |
T |
12: 72,621,174 (GRCm39) |
G998V |
possibly damaging |
Het |
| Ptprk |
G |
A |
10: 28,450,913 (GRCm39) |
|
probably null |
Het |
| Scn9a |
A |
G |
2: 66,357,416 (GRCm39) |
F951L |
probably damaging |
Het |
| Septin11 |
A |
C |
5: 93,309,063 (GRCm39) |
K248Q |
possibly damaging |
Het |
| Src |
T |
A |
2: 157,304,903 (GRCm39) |
Y151N |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,091,176 (GRCm39) |
M119K |
possibly damaging |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,656,475 (GRCm39) |
|
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
|
| Other mutations in Dpf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R3732:Dpf3
|
UTSW |
12 |
83,316,281 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
|
| Posted On |
2013-11-11 |
Incidental Mutation