Incidental Mutation 'IGL03191:Dpf1'
ID |
412665 |
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 # |
IGL03191
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
29003366-29017017 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to A
at 29015986 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: ENSMUST00000154222
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207677
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182009
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182223
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207245
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138993
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183330
|
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: 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 |
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
A |
G |
1: 58,398,228 (GRCm39) |
D1323G |
probably null |
Het |
Asxl2 |
A |
G |
12: 3,550,094 (GRCm39) |
D612G |
probably damaging |
Het |
Cacna1c |
A |
T |
6: 118,718,864 (GRCm39) |
F395L |
probably damaging |
Het |
Cct8 |
A |
G |
16: 87,283,198 (GRCm39) |
S380P |
probably damaging |
Het |
Cltb |
T |
C |
13: 54,746,883 (GRCm39) |
E31G |
probably damaging |
Het |
Cobl |
T |
C |
11: 12,203,364 (GRCm39) |
M1031V |
probably benign |
Het |
Colgalt1 |
C |
A |
8: 72,075,731 (GRCm39) |
|
probably null |
Het |
Dcstamp |
A |
G |
15: 39,617,620 (GRCm39) |
I10V |
probably benign |
Het |
Diaph3 |
T |
C |
14: 87,310,738 (GRCm39) |
I138V |
possibly damaging |
Het |
Dnah8 |
T |
C |
17: 30,945,804 (GRCm39) |
V1827A |
probably damaging |
Het |
Dscam |
A |
T |
16: 96,621,969 (GRCm39) |
L494Q |
probably benign |
Het |
Eif2ak4 |
C |
T |
2: 118,252,693 (GRCm39) |
H422Y |
probably damaging |
Het |
Galnt10 |
T |
C |
11: 57,662,326 (GRCm39) |
V324A |
probably damaging |
Het |
Hcfc1 |
T |
C |
X: 72,999,220 (GRCm39) |
I309V |
probably benign |
Het |
Il24 |
T |
C |
1: 130,812,584 (GRCm39) |
T96A |
probably benign |
Het |
Itga2 |
T |
C |
13: 114,973,020 (GRCm39) |
|
probably benign |
Het |
Lrrc32 |
A |
G |
7: 98,147,454 (GRCm39) |
H78R |
possibly damaging |
Het |
Lrrk1 |
T |
C |
7: 65,909,707 (GRCm39) |
E2001G |
probably damaging |
Het |
Lztr1 |
T |
A |
16: 17,336,392 (GRCm39) |
M199K |
probably damaging |
Het |
Mcm8 |
A |
G |
2: 132,663,362 (GRCm39) |
Y160C |
possibly damaging |
Het |
Msh4 |
G |
A |
3: 153,575,245 (GRCm39) |
T710M |
probably damaging |
Het |
Pate8 |
T |
C |
9: 36,492,698 (GRCm39) |
D69G |
probably benign |
Het |
Pilrb1 |
A |
T |
5: 137,853,227 (GRCm39) |
L192Q |
probably damaging |
Het |
Pim1 |
T |
A |
17: 29,712,693 (GRCm39) |
|
probably benign |
Het |
Slc12a1 |
A |
T |
2: 125,048,009 (GRCm39) |
Q817L |
possibly damaging |
Het |
Trip11 |
T |
C |
12: 101,865,184 (GRCm39) |
D163G |
probably damaging |
Het |
Tsc2 |
A |
T |
17: 24,847,028 (GRCm39) |
V179E |
probably damaging |
Het |
Zfp641 |
C |
T |
15: 98,186,568 (GRCm39) |
V352M |
probably damaging |
Het |
|
Other mutations in Dpf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00478:Dpf1
|
APN |
7 |
29,015,981 (GRCm39) |
unclassified |
probably benign |
|
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 |
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 |
2016-08-02 |