Incidental Mutation 'IGL00478:Dpf1'
| ID |
27730 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dpf1
|
| Ensembl Gene |
ENSMUSG00000030584 |
| Gene Name |
double PHD fingers 1 |
| Synonyms |
neuro-d4, Neud4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00478
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
29003366-29017017 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 29015981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049977]
[ENSMUST00000065181]
[ENSMUST00000085809]
[ENSMUST00000108230]
[ENSMUST00000108231]
[ENSMUST00000183096]
|
| AlphaFold |
Q9QX66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049977
|
| SMART Domains |
Protein: ENSMUSP00000054385
Gene: ENSMUSG00000030584
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Requiem_N
|
12 |
85 |
1.6e-39 |
PFAM |
|
ZnF_C2H2
|
196 |
219 |
2.4e-3 |
SMART |
|
PHD
|
274 |
327 |
8.98e-7 |
SMART |
|
RING
|
275 |
326 |
1.06e1 |
SMART |
|
PHD
|
328 |
374 |
2.6e-12 |
SMART |
|
RING
|
329 |
373 |
8.53e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065181
|
| SMART Domains |
Protein: ENSMUSP00000070539
Gene: ENSMUSG00000030584
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Requiem_N
|
11 |
84 |
2e-39 |
PFAM |
|
ZnF_C2H2
|
195 |
218 |
2.4e-3 |
SMART |
|
PHD
|
273 |
326 |
8.98e-7 |
SMART |
|
RING
|
274 |
325 |
1.06e1 |
SMART |
|
PHD
|
327 |
373 |
2.6e-12 |
SMART |
|
RING
|
328 |
372 |
8.53e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085809
|
| SMART Domains |
Protein: ENSMUSP00000082965
Gene: ENSMUSG00000030583
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
419 |
N/A |
INTRINSIC |
|
Pfam:Rap_GAP
|
634 |
816 |
1.7e-68 |
PFAM |
|
PDZ
|
969 |
1035 |
1.39e-8 |
SMART |
|
low complexity region
|
1053 |
1064 |
N/A |
INTRINSIC |
|
low complexity region
|
1190 |
1201 |
N/A |
INTRINSIC |
|
low complexity region
|
1260 |
1277 |
N/A |
INTRINSIC |
|
low complexity region
|
1283 |
1294 |
N/A |
INTRINSIC |
|
Pfam:SPAR_C
|
1471 |
1721 |
1.6e-96 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108230
|
| SMART Domains |
Protein: ENSMUSP00000103865
Gene: ENSMUSG00000030584
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Requiem_N
|
11 |
84 |
9.7e-40 |
PFAM |
|
PHD
|
229 |
282 |
8.98e-7 |
SMART |
|
RING
|
230 |
281 |
1.06e1 |
SMART |
|
PHD
|
283 |
339 |
6.85e-12 |
SMART |
|
RING
|
284 |
338 |
9.5e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108231
|
| SMART Domains |
Protein: ENSMUSP00000103866
Gene: ENSMUSG00000030584
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Requiem_N
|
13 |
84 |
1.2e-39 |
PFAM |
|
ZnF_C2H2
|
196 |
219 |
2.4e-3 |
SMART |
|
PHD
|
274 |
327 |
8.98e-7 |
SMART |
|
RING
|
275 |
326 |
1.06e1 |
SMART |
|
PHD
|
328 |
384 |
6.85e-12 |
SMART |
|
RING
|
329 |
383 |
9.5e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126169
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128145
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207245
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207677
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182009
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137848
|
| SMART Domains |
Protein: ENSMUSP00000120956
Gene: ENSMUSG00000030584
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Requiem_N
|
1 |
40 |
8.9e-20 |
PFAM |
|
ZnF_C2H2
|
122 |
143 |
5.34e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142958
|
| SMART Domains |
Protein: ENSMUSP00000117186
Gene: ENSMUSG00000030584
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
21 |
44 |
2.4e-3 |
SMART |
|
PHD
|
82 |
135 |
8.98e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183330
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183096
|
| SMART Domains |
Protein: ENSMUSP00000138171
Gene: ENSMUSG00000030583
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
419 |
N/A |
INTRINSIC |
|
Pfam:Rap_GAP
|
634 |
822 |
6.7e-64 |
PFAM |
|
PDZ
|
969 |
1035 |
1.39e-8 |
SMART |
|
low complexity region
|
1053 |
1064 |
N/A |
INTRINSIC |
|
low complexity region
|
1190 |
1201 |
N/A |
INTRINSIC |
|
low complexity region
|
1260 |
1277 |
N/A |
INTRINSIC |
|
low complexity region
|
1283 |
1294 |
N/A |
INTRINSIC |
|
Pfam:DUF3401
|
1471 |
1721 |
7.2e-94 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,774,604 (GRCm39) |
T578A |
possibly damaging |
Het |
| Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
| Akap9 |
G |
A |
5: 4,096,639 (GRCm39) |
V2505M |
probably damaging |
Het |
| Alpk2 |
A |
T |
18: 65,440,297 (GRCm39) |
C365* |
probably null |
Het |
| C920021L13Rik |
A |
T |
3: 95,794,797 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,247,888 (GRCm39) |
V905E |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,050,613 (GRCm39) |
V1529A |
probably damaging |
Het |
| Coro2a |
T |
C |
4: 46,540,455 (GRCm39) |
D488G |
probably benign |
Het |
| Fga |
T |
A |
3: 82,935,951 (GRCm39) |
D59E |
probably benign |
Het |
| Ggh |
T |
A |
4: 20,057,965 (GRCm39) |
H175Q |
probably benign |
Het |
| Glyat |
T |
C |
19: 12,625,497 (GRCm39) |
|
probably benign |
Het |
| Gpr137c |
T |
C |
14: 45,516,202 (GRCm39) |
V312A |
probably damaging |
Het |
| Myt1 |
T |
C |
2: 181,442,908 (GRCm39) |
S466P |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,141,213 (GRCm39) |
D1078V |
probably damaging |
Het |
| Rad17 |
T |
C |
13: 100,769,782 (GRCm39) |
D259G |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
| Uspl1 |
A |
T |
5: 149,152,024 (GRCm39) |
T1075S |
possibly damaging |
Het |
| Vash1 |
T |
A |
12: 86,727,042 (GRCm39) |
I94N |
possibly damaging |
Het |
| Zfp770 |
T |
C |
2: 114,027,946 (GRCm39) |
E41G |
probably damaging |
Het |
|
| Other mutations in Dpf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00736:Dpf1
|
APN |
7 |
29,012,333 (GRCm39) |
nonsense |
probably null |
|
|
IGL01804:Dpf1
|
APN |
7 |
29,015,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01942:Dpf1
|
APN |
7 |
29,015,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01953:Dpf1
|
APN |
7 |
29,013,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03191:Dpf1
|
APN |
7 |
29,015,986 (GRCm39) |
unclassified |
probably benign |
|
|
R3622:Dpf1
|
UTSW |
7 |
29,015,631 (GRCm39) |
splice site |
probably null |
|
|
R3924:Dpf1
|
UTSW |
7 |
29,011,098 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4234:Dpf1
|
UTSW |
7 |
29,015,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4606:Dpf1
|
UTSW |
7 |
29,016,015 (GRCm39) |
unclassified |
probably benign |
|
|
R5379:Dpf1
|
UTSW |
7 |
29,003,533 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5434:Dpf1
|
UTSW |
7 |
29,010,756 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6185:Dpf1
|
UTSW |
7 |
29,010,696 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6672:Dpf1
|
UTSW |
7 |
29,015,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6816:Dpf1
|
UTSW |
7 |
29,011,087 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7240:Dpf1
|
UTSW |
7 |
29,011,052 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7699:Dpf1
|
UTSW |
7 |
29,011,032 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7796:Dpf1
|
UTSW |
7 |
29,011,106 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8071:Dpf1
|
UTSW |
7 |
29,013,566 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8929:Dpf1
|
UTSW |
7 |
29,009,174 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9619:Dpf1
|
UTSW |
7 |
29,012,618 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9643:Dpf1
|
UTSW |
7 |
29,013,742 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9668:Dpf1
|
UTSW |
7 |
29,009,084 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation