Incidental Mutation 'R9634:Dpf3'
| ID |
725723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpf3
|
| Ensembl Gene |
ENSMUSG00000021221 |
| Gene Name |
double PHD fingers 3 |
| Synonyms |
cer-d4, CERD4, 2810403B03Rik, Gm18872 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.488)
|
| Stock # |
R9634 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
83260519-83534490 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 83378635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177801]
[ENSMUST00000177959]
[ENSMUST00000178756]
|
| AlphaFold |
P58269 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133282
|
| SMART Domains |
Protein: ENSMUSP00000121199
Gene: ENSMUSG00000021221
| 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: ENSMUST00000144237
|
| SMART Domains |
Protein: ENSMUSP00000122004
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 |
|
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 |
probably benign
Transcript: ENSMUST00000177801
|
| SMART Domains |
Protein: ENSMUSP00000136740
Gene: ENSMUSG00000021221
| 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
|
| SMART Domains |
Protein: ENSMUSP00000137477
Gene: ENSMUSG00000021221
| 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 null
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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 |
|---|
| Acaca |
C |
A |
11: 84,184,816 (GRCm39) |
D1277E |
probably benign |
Het |
| Anapc7 |
T |
C |
5: 122,560,689 (GRCm39) |
S17P |
probably damaging |
Het |
| Atad2b |
T |
C |
12: 5,060,332 (GRCm39) |
F909S |
probably damaging |
Het |
| Ccnb1 |
G |
A |
13: 100,920,112 (GRCm39) |
A133V |
probably benign |
Het |
| Chd7 |
A |
G |
4: 8,832,499 (GRCm39) |
T1125A |
probably damaging |
Het |
| Cyc1 |
A |
G |
15: 76,227,794 (GRCm39) |
T11A |
probably benign |
Het |
| Ddx59 |
G |
A |
1: 136,347,214 (GRCm39) |
A291T |
probably damaging |
Het |
| Dgkg |
T |
A |
16: 22,338,387 (GRCm39) |
|
probably null |
Het |
| Dock8 |
A |
G |
19: 25,169,585 (GRCm39) |
D1952G |
probably damaging |
Het |
| Evi5 |
T |
C |
5: 107,964,663 (GRCm39) |
I340V |
probably benign |
Het |
| Extl3 |
A |
T |
14: 65,314,919 (GRCm39) |
S88T |
probably damaging |
Het |
| Fktn |
A |
G |
4: 53,761,230 (GRCm39) |
H410R |
probably benign |
Het |
| Fyb2 |
A |
T |
4: 104,856,579 (GRCm39) |
K596* |
probably null |
Het |
| Gas2l3 |
C |
T |
10: 89,249,943 (GRCm39) |
A392T |
probably benign |
Het |
| Gbp7 |
T |
A |
3: 142,242,115 (GRCm39) |
V83E |
probably benign |
Het |
| Gja10 |
A |
G |
4: 32,601,877 (GRCm39) |
V169A |
probably damaging |
Het |
| Gnao1 |
A |
G |
8: 94,682,723 (GRCm39) |
H303R |
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,027,727 (GRCm39) |
*734R |
probably null |
Het |
| Il2ra |
C |
T |
2: 11,685,227 (GRCm39) |
R188* |
probably null |
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,318,606 (GRCm39) |
T210A |
|
Het |
| Itpkc |
A |
G |
7: 26,913,880 (GRCm39) |
I527T |
probably benign |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
| Loxl3 |
C |
T |
6: 83,027,835 (GRCm39) |
T749I |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 41,135,951 (GRCm39) |
|
probably null |
Het |
| Ncapg2 |
T |
A |
12: 116,379,077 (GRCm39) |
H190Q |
probably damaging |
Het |
| Nkain2 |
G |
A |
10: 32,766,262 (GRCm39) |
P66L |
unknown |
Het |
| Nubpl |
T |
C |
12: 52,349,494 (GRCm39) |
F242L |
probably benign |
Het |
| Or4f4-ps1 |
T |
C |
2: 111,330,131 (GRCm39) |
V178A |
possibly damaging |
Het |
| Or4x11 |
T |
C |
2: 89,867,907 (GRCm39) |
S215P |
probably damaging |
Het |
| Or8b51 |
A |
G |
9: 38,568,869 (GRCm39) |
I273T |
probably benign |
Het |
| Paip2b |
T |
C |
6: 83,787,023 (GRCm39) |
D71G |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,605,152 (GRCm39) |
E1584G |
probably damaging |
Het |
| Poglut2 |
T |
C |
1: 44,152,196 (GRCm39) |
D271G |
probably damaging |
Het |
| Prkag2 |
A |
G |
5: 25,074,238 (GRCm39) |
I489T |
possibly damaging |
Het |
| Ptpn2 |
C |
T |
18: 67,808,789 (GRCm39) |
|
probably null |
Het |
| Rims3 |
G |
A |
4: 120,748,517 (GRCm39) |
R246H |
possibly damaging |
Het |
| Sorl1 |
T |
G |
9: 41,907,590 (GRCm39) |
T1466P |
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,926,531 (GRCm39) |
E3G |
probably benign |
Het |
| Tex2 |
A |
G |
11: 106,458,978 (GRCm39) |
S151P |
unknown |
Het |
| Tmem260 |
C |
A |
14: 48,709,816 (GRCm39) |
A123E |
probably damaging |
Het |
| Trim45 |
T |
C |
3: 100,839,306 (GRCm39) |
V736A |
unknown |
Het |
| Vps8 |
T |
C |
16: 21,372,893 (GRCm39) |
L1033P |
probably damaging |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Wwc2 |
GCC |
GCCC |
8: 48,304,959 (GRCm39) |
|
probably null |
Het |
| Ythdc2 |
A |
G |
18: 45,006,037 (GRCm39) |
T1177A |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,494,056 (GRCm39) |
Y194H |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAGTACAGATACCAGGAAACC -3'
(R):5'- AACTCTGGACTCTTCATCCTGG -3'
Sequencing Primer
(F):5'- TACAGATACCAGGAAACCAGGGAG -3'
(R):5'- ATCCTGGTTCCCAAGGATTAC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation