Incidental Mutation 'R2344:Dpf3'
| ID |
245930 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2344 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
83260519-83534490 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 83397594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 90
(D90A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177801]
[ENSMUST00000177959]
[ENSMUST00000178756]
|
| AlphaFold |
P58269 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000133282
AA Change: D25A
|
| SMART Domains |
Protein: ENSMUSP00000121199
Gene: ENSMUSG00000021221
AA Change: D25A
| 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 |
unknown
Transcript: ENSMUST00000144237
AA Change: D25A
|
| SMART Domains |
Protein: ENSMUSP00000122004
Gene: ENSMUSG00000021221
AA Change: D25A
| 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 |
unknown
Transcript: ENSMUST00000147469
AA Change: D25A
|
| SMART Domains |
Protein: ENSMUSP00000122598
Gene: ENSMUSG00000021221
AA Change: D25A
| 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: D48A
|
| SMART Domains |
Protein: ENSMUSP00000136740
Gene: ENSMUSG00000021221
AA Change: D48A
| 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 damaging
Transcript: ENSMUST00000177959
AA Change: D90A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137477
Gene: ENSMUSG00000021221
AA Change: D90A
| 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 damaging
Transcript: ENSMUST00000178756
AA Change: D90A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136280
Gene: ENSMUSG00000021221
AA Change: D90A
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.4%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4b |
A |
G |
13: 14,328,075 (GRCm39) |
Q247R |
probably benign |
Het |
| Bend7 |
A |
T |
2: 4,793,345 (GRCm39) |
D383V |
probably damaging |
Het |
| Calm4 |
A |
G |
13: 3,888,298 (GRCm39) |
K135E |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,152,503 (GRCm39) |
D2412G |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,805,736 (GRCm39) |
T1057A |
unknown |
Het |
| Dtl |
A |
T |
1: 191,280,490 (GRCm39) |
M348K |
probably benign |
Het |
| Elmo3 |
T |
C |
8: 106,035,793 (GRCm39) |
Y558H |
probably damaging |
Het |
| Epha3 |
C |
T |
16: 63,472,746 (GRCm39) |
V79I |
possibly damaging |
Het |
| Ercc5 |
T |
C |
1: 44,206,329 (GRCm39) |
M414T |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,094,318 (GRCm39) |
I389M |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,820,257 (GRCm39) |
F5330S |
possibly damaging |
Het |
| Grin2a |
T |
C |
16: 9,481,099 (GRCm39) |
I533V |
probably benign |
Het |
| Gsdma2 |
T |
C |
11: 98,546,417 (GRCm39) |
L167P |
probably damaging |
Het |
| Gys2 |
A |
T |
6: 142,391,748 (GRCm39) |
F505I |
probably damaging |
Het |
| Il6 |
A |
T |
5: 30,219,854 (GRCm39) |
M77L |
probably benign |
Het |
| Or6c76b |
A |
T |
10: 129,692,410 (GRCm39) |
T8S |
probably benign |
Het |
| Pgm2l1 |
A |
G |
7: 99,909,115 (GRCm39) |
I194V |
probably damaging |
Het |
| Rbpjl |
G |
T |
2: 164,256,312 (GRCm39) |
V433L |
probably damaging |
Het |
| Rps10 |
C |
G |
17: 27,853,081 (GRCm39) |
R96P |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Supt16 |
T |
C |
14: 52,415,575 (GRCm39) |
T387A |
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,036,414 (GRCm39) |
T298M |
probably benign |
Het |
| Usp49 |
T |
C |
17: 47,983,828 (GRCm39) |
F278L |
probably damaging |
Het |
| Zfp729b |
A |
G |
13: 67,740,352 (GRCm39) |
C648R |
probably damaging |
Het |
|
| Other mutations in Dpf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01452:Dpf3
|
APN |
12 |
83,316,263 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGGGCACTGCTCTTCTG -3'
(R):5'- GTTGTCTCTCACTGTGGATGAC -3'
Sequencing Primer
(F):5'- AGAACCTTGCCCTTTTGAGG -3'
(R):5'- GTCTCTCACTGTGGATGACAAAGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation