Incidental Mutation 'R5638:Dpf3'
| ID |
501266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpf3
|
| Ensembl Gene |
ENSMUSG00000021221 |
| Gene Name |
double PHD fingers 3 |
| Synonyms |
cer-d4, CERD4, 2810403B03Rik, Gm18872 |
| MMRRC Submission |
043168-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.488)
|
| Stock # |
R5638 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
83260519-83534490 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83371714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 174
(R174W)
|
| 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: R109W
|
| SMART Domains |
Protein: ENSMUSP00000121199
Gene: ENSMUSG00000021221
AA Change: R109W
| 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: R110W
|
| SMART Domains |
Protein: ENSMUSP00000122004
Gene: ENSMUSG00000021221
AA Change: R110W
| 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: R110W
|
| SMART Domains |
Protein: ENSMUSP00000122598
Gene: ENSMUSG00000021221
AA Change: R110W
| 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: R133W
|
| SMART Domains |
Protein: ENSMUSP00000136740
Gene: ENSMUSG00000021221
AA Change: R133W
| 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: R174W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137477
Gene: ENSMUSG00000021221
AA Change: R174W
| 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: R175W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136280
Gene: ENSMUSG00000021221
AA Change: R175W
| 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: 97.2%
- 20x: 95.1%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
G |
A |
10: 76,288,729 (GRCm39) |
A96T |
probably benign |
Het |
| A930018M24Rik |
T |
C |
14: 51,134,414 (GRCm39) |
D76G |
possibly damaging |
Het |
| Adamtsl3 |
A |
T |
7: 82,260,958 (GRCm39) |
R1631W |
probably damaging |
Het |
| Alg5 |
C |
T |
3: 54,646,254 (GRCm39) |
H40Y |
probably benign |
Het |
| B3galt1 |
T |
C |
2: 67,949,095 (GRCm39) |
L270P |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,893,860 (GRCm39) |
Y457C |
probably damaging |
Het |
| Cenpa |
A |
T |
5: 30,830,736 (GRCm39) |
R124W |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,275,894 (GRCm39) |
T1385A |
possibly damaging |
Het |
| Chd9 |
A |
T |
8: 91,738,078 (GRCm39) |
H1570L |
possibly damaging |
Het |
| Cmtm4 |
T |
C |
8: 105,084,356 (GRCm39) |
I113V |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,024,693 (GRCm39) |
I1789T |
possibly damaging |
Het |
| Dusp26 |
T |
C |
8: 31,584,169 (GRCm39) |
L92P |
probably damaging |
Het |
| Fndc7 |
T |
A |
3: 108,770,208 (GRCm39) |
T659S |
possibly damaging |
Het |
| Fry |
A |
G |
5: 150,282,546 (GRCm39) |
H357R |
possibly damaging |
Het |
| G0s2 |
A |
T |
1: 192,954,859 (GRCm39) |
L75H |
probably damaging |
Het |
| Gm5493 |
A |
G |
17: 22,969,065 (GRCm39) |
T82A |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,854,164 (GRCm39) |
V3690A |
probably benign |
Het |
| Igf2bp3 |
C |
A |
6: 49,064,734 (GRCm39) |
V537F |
probably damaging |
Het |
| Kntc1 |
C |
T |
5: 123,956,538 (GRCm39) |
R2101W |
possibly damaging |
Het |
| Kpna2rt |
T |
C |
17: 90,217,635 (GRCm39) |
E37G |
probably damaging |
Het |
| Mrgpra6 |
G |
T |
7: 46,835,657 (GRCm39) |
P255T |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,125,364 (GRCm39) |
V229A |
probably benign |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Or6c210 |
T |
A |
10: 129,495,969 (GRCm39) |
I98K |
possibly damaging |
Het |
| Or7g21 |
T |
A |
9: 19,032,676 (GRCm39) |
C142S |
probably benign |
Het |
| Ppt2 |
C |
A |
17: 34,844,823 (GRCm39) |
M140I |
probably benign |
Het |
| Ppwd1 |
A |
G |
13: 104,356,906 (GRCm39) |
I203T |
probably damaging |
Het |
| Prpf6 |
A |
G |
2: 181,287,381 (GRCm39) |
T589A |
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,287,427 (GRCm39) |
L453P |
probably benign |
Het |
| Ptpn14 |
A |
G |
1: 189,519,038 (GRCm39) |
T23A |
probably damaging |
Het |
| Rxrb |
T |
C |
17: 34,256,381 (GRCm39) |
L374P |
probably damaging |
Het |
| Scaf4 |
T |
C |
16: 90,041,198 (GRCm39) |
E710G |
unknown |
Het |
| Sik1 |
C |
T |
17: 32,069,802 (GRCm39) |
V216I |
probably damaging |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc30a5 |
T |
A |
13: 100,950,380 (GRCm39) |
K236* |
probably null |
Het |
| Slc38a4 |
A |
C |
15: 96,910,871 (GRCm39) |
S135A |
probably damaging |
Het |
| Slc9a1 |
T |
A |
4: 133,139,571 (GRCm39) |
V263D |
probably damaging |
Het |
| Socs2 |
T |
C |
10: 95,228,745 (GRCm39) |
I168M |
unknown |
Het |
| Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,469,825 (GRCm39) |
S4508P |
possibly damaging |
Het |
| Stat5b |
C |
A |
11: 100,675,080 (GRCm39) |
E710* |
probably null |
Het |
| Stip1 |
G |
A |
19: 7,009,883 (GRCm39) |
P213L |
probably damaging |
Het |
| Tarbp1 |
A |
T |
8: 127,177,425 (GRCm39) |
L749Q |
probably damaging |
Het |
| Thsd7b |
T |
G |
1: 129,523,270 (GRCm39) |
S24R |
probably benign |
Het |
| Upp2 |
T |
C |
2: 58,680,107 (GRCm39) |
V293A |
probably damaging |
Het |
| Vmn2r65 |
C |
T |
7: 84,590,047 (GRCm39) |
C623Y |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,258,799 (GRCm39) |
V742A |
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 |
|
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'- TCCTCTTGTCAGCACTGGAC -3'
(R):5'- ACCGAGACTTCAAACTCTTAGGC -3'
Sequencing Primer
(F):5'- CTTGTCAGCACTGGACATTGCAG -3'
(R):5'- TTCAAACTCTTAGGCAGCGG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation