Incidental Mutation 'R5657:Dpf3'
| ID |
442395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpf3
|
| Ensembl Gene |
ENSMUSG00000021221 |
| Gene Name |
double PHD fingers 3 |
| Synonyms |
cer-d4, CERD4, 2810403B03Rik, Gm18872 |
| MMRRC Submission |
043171-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.488)
|
| Stock # |
R5657 (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 C
at 83371785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 150
(N150S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177801]
[ENSMUST00000177959]
[ENSMUST00000178756]
|
| AlphaFold |
P58269 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000133282
AA Change: N85S
|
| SMART Domains |
Protein: ENSMUSP00000121199
Gene: ENSMUSG00000021221
AA Change: N85S
| 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: N86S
|
| SMART Domains |
Protein: ENSMUSP00000122004
Gene: ENSMUSG00000021221
AA Change: N86S
| 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: N86S
|
| SMART Domains |
Protein: ENSMUSP00000122598
Gene: ENSMUSG00000021221
AA Change: N86S
| 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: N109S
|
| SMART Domains |
Protein: ENSMUSP00000136740
Gene: ENSMUSG00000021221
AA Change: N109S
| 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: N150S
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137477
Gene: ENSMUSG00000021221
AA Change: N150S
| 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: N151S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000136280
Gene: ENSMUSG00000021221
AA Change: N151S
| 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: 97.4%
- 20x: 95.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
A |
G |
5: 31,051,390 (GRCm39) |
Y533C |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,991,979 (GRCm39) |
V4421A |
probably damaging |
Het |
| Bach1 |
A |
G |
16: 87,516,173 (GRCm39) |
K238R |
probably benign |
Het |
| Bloc1s6 |
T |
A |
2: 122,580,577 (GRCm39) |
V12D |
probably benign |
Het |
| Clca3b |
C |
A |
3: 144,533,144 (GRCm39) |
L629F |
probably benign |
Het |
| Clhc1 |
A |
G |
11: 29,511,431 (GRCm39) |
I292V |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,143,547 (GRCm39) |
S412P |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,949,397 (GRCm39) |
I746T |
probably damaging |
Het |
| Cracr2a |
G |
A |
6: 127,580,970 (GRCm39) |
A49T |
probably damaging |
Het |
| Cyb561d1 |
A |
G |
3: 108,108,008 (GRCm39) |
I28T |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 117,847,352 (GRCm39) |
M4264L |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,105,736 (GRCm39) |
L412S |
probably damaging |
Het |
| Epha2 |
T |
C |
4: 141,050,805 (GRCm39) |
C854R |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,201,507 (GRCm39) |
Y522* |
probably null |
Het |
| Foxm1 |
A |
T |
6: 128,350,351 (GRCm39) |
S551C |
possibly damaging |
Het |
| Galnt12 |
T |
C |
4: 47,104,150 (GRCm39) |
V136A |
possibly damaging |
Het |
| Gm6647 |
T |
G |
5: 13,818,835 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
A |
6: 135,710,085 (GRCm39) |
I1154F |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,534,313 (GRCm39) |
V2987A |
probably benign |
Het |
| Jade2 |
A |
G |
11: 51,707,814 (GRCm39) |
S800P |
probably damaging |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Or1e33 |
T |
C |
11: 73,738,366 (GRCm39) |
N195S |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Plod1 |
T |
C |
4: 148,003,238 (GRCm39) |
E529G |
possibly damaging |
Het |
| Plppr2 |
T |
C |
9: 21,858,911 (GRCm39) |
C343R |
probably damaging |
Het |
| Prpf38a |
T |
C |
4: 108,425,621 (GRCm39) |
D219G |
probably damaging |
Het |
| Ptpra |
G |
A |
2: 130,346,204 (GRCm39) |
E122K |
probably benign |
Het |
| Rabl2 |
T |
C |
15: 89,472,416 (GRCm39) |
M38V |
probably benign |
Het |
| Reep1 |
A |
G |
6: 71,738,358 (GRCm39) |
M39V |
possibly damaging |
Het |
| Rsf1 |
GC |
GCGGCGGCGTC |
7: 97,229,141 (GRCm39) |
|
probably benign |
Het |
| Slc26a10 |
T |
C |
10: 127,010,833 (GRCm39) |
|
probably benign |
Het |
| Sun2 |
C |
A |
15: 79,612,150 (GRCm39) |
E510* |
probably null |
Het |
| Tanc1 |
A |
G |
2: 59,665,051 (GRCm39) |
|
probably null |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Tor1aip1 |
G |
T |
1: 155,883,234 (GRCm39) |
H205N |
probably damaging |
Het |
| Trpc6 |
C |
T |
9: 8,609,808 (GRCm39) |
T92I |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,725,178 (GRCm39) |
F36I |
probably benign |
Het |
| Zfp787 |
T |
C |
7: 6,136,053 (GRCm39) |
Y66C |
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 |
|
|
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 |
|
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'- GTCAGCACTGGACATTGCAG -3'
(R):5'- ACCGAGACTTCAAACTCTTAGG -3'
Sequencing Primer
(F):5'- CACTGGACATTGCAGGCATG -3'
(R):5'- TTCAAACTCTTAGGCAGCGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation