Incidental Mutation 'IGL01804:Dpf1'
| ID |
155611 |
| 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 # |
IGL01804
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
29003366-29017017 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29015926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 383
(C383S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049977]
[ENSMUST00000065181]
[ENSMUST00000085809]
[ENSMUST00000108230]
[ENSMUST00000108231]
[ENSMUST00000183096]
|
| AlphaFold |
Q9QX66 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049977
AA Change: C373S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054385
Gene: ENSMUSG00000030584
AA Change: C373S
| 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 damaging
Transcript: ENSMUST00000065181
AA Change: C372S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000070539
Gene: ENSMUSG00000030584
AA Change: C372S
| 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 damaging
Transcript: ENSMUST00000108230
AA Change: C338S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103865
Gene: ENSMUSG00000030584
AA Change: C338S
| 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 damaging
Transcript: ENSMUST00000108231
AA Change: C383S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103866
Gene: ENSMUSG00000030584
AA Change: C383S
| 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: ENSMUST00000182009
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207245
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207677
|
| 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: 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: 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,315,342 (GRCm39) |
N1860D |
probably benign |
Het |
| Abca2 |
T |
A |
2: 25,336,637 (GRCm39) |
C2248S |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,949,080 (GRCm39) |
Q194* |
probably null |
Het |
| Cetn3 |
A |
T |
13: 81,932,779 (GRCm39) |
K13* |
probably null |
Het |
| Cldn18 |
T |
A |
9: 99,580,901 (GRCm39) |
K116* |
probably null |
Het |
| Cntn5 |
T |
A |
9: 9,831,542 (GRCm39) |
I613F |
probably damaging |
Het |
| Cyp46a1 |
A |
G |
12: 108,321,745 (GRCm39) |
I324V |
probably benign |
Het |
| Ddb1 |
A |
C |
19: 10,590,382 (GRCm39) |
E303A |
probably damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,962,361 (GRCm39) |
V539A |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,212,433 (GRCm39) |
Y1236F |
probably benign |
Het |
| Edc4 |
T |
A |
8: 106,617,289 (GRCm39) |
I1052N |
possibly damaging |
Het |
| Ehmt1 |
A |
G |
2: 24,681,966 (GRCm39) |
L1243P |
probably damaging |
Het |
| Exoc6b |
A |
G |
6: 84,885,148 (GRCm39) |
S264P |
probably damaging |
Het |
| Gbx2 |
T |
C |
1: 89,856,703 (GRCm39) |
E229G |
probably benign |
Het |
| Hip1r |
T |
A |
5: 124,139,613 (GRCm39) |
|
probably null |
Het |
| Lig1 |
A |
G |
7: 13,043,131 (GRCm39) |
K859E |
probably benign |
Het |
| Ly6g6f |
T |
C |
17: 35,300,146 (GRCm39) |
D234G |
possibly damaging |
Het |
| Mmp11 |
G |
T |
10: 75,764,304 (GRCm39) |
L54I |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,358,092 (GRCm39) |
L1048Q |
probably damaging |
Het |
| Or4c122 |
C |
A |
2: 89,079,566 (GRCm39) |
M157I |
probably benign |
Het |
| Or6k14 |
A |
G |
1: 173,927,401 (GRCm39) |
I126V |
probably damaging |
Het |
| Or7g12 |
T |
A |
9: 18,900,136 (GRCm39) |
M284K |
probably benign |
Het |
| Or8g17 |
T |
C |
9: 38,930,697 (GRCm39) |
I47V |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,764,089 (GRCm39) |
D474G |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,306,628 (GRCm39) |
Y1401H |
probably damaging |
Het |
| Prrg4 |
T |
A |
2: 104,663,035 (GRCm39) |
E190D |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,333,092 (GRCm39) |
F2767S |
probably damaging |
Het |
| Scgb1b2 |
T |
A |
7: 30,991,155 (GRCm39) |
|
probably benign |
Het |
| Sec31a |
A |
G |
5: 100,523,065 (GRCm39) |
|
probably null |
Het |
| Slc12a4 |
A |
G |
8: 106,671,033 (GRCm39) |
S1014P |
probably damaging |
Het |
| Spns2 |
A |
T |
11: 72,348,130 (GRCm39) |
I279N |
possibly damaging |
Het |
| Spta1 |
A |
T |
1: 174,071,746 (GRCm39) |
H2242L |
probably benign |
Het |
| Tcaf3 |
T |
A |
6: 42,574,063 (GRCm39) |
I50F |
probably damaging |
Het |
| Tnfaip8l1 |
G |
A |
17: 56,479,214 (GRCm39) |
S168N |
probably benign |
Het |
| Trak1 |
C |
T |
9: 121,271,751 (GRCm39) |
|
probably benign |
Het |
| Trpv4 |
A |
T |
5: 114,782,847 (GRCm39) |
N38K |
possibly damaging |
Het |
| Ube2o |
T |
C |
11: 116,435,199 (GRCm39) |
T530A |
probably benign |
Het |
| Vmn2r2 |
A |
G |
3: 64,041,677 (GRCm39) |
V346A |
possibly damaging |
Het |
| Vmn2r86 |
A |
C |
10: 130,288,858 (GRCm39) |
D214E |
probably damaging |
Het |
| Wwc1 |
C |
A |
11: 35,732,751 (GRCm39) |
D986Y |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,199,754 (GRCm39) |
D1184G |
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 |
|
|
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 |
2014-02-04 |
Incidental Mutation