Incidental Mutation 'IGL01942:Dpf1'
| ID |
180875 |
| 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 # |
IGL01942
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
29003366-29017017 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29015927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 383
(C383Y)
|
| 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: C373Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054385
Gene: ENSMUSG00000030584
AA Change: C373Y
| 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: C372Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070539
Gene: ENSMUSG00000030584
AA Change: C372Y
| 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: C338Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103865
Gene: ENSMUSG00000030584
AA Change: C338Y
| 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: C383Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103866
Gene: ENSMUSG00000030584
AA Change: C383Y
| 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: ENSMUST00000182223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207245
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207677
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182009
|
| 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 |
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
G |
A |
7: 45,635,997 (GRCm39) |
R1017W |
possibly damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,247,515 (GRCm39) |
R200G |
probably benign |
Het |
| Arid4b |
A |
T |
13: 14,310,749 (GRCm39) |
|
probably benign |
Het |
| Atp1a2 |
A |
C |
1: 172,113,876 (GRCm39) |
S369A |
probably benign |
Het |
| Bag3 |
T |
A |
7: 128,148,024 (GRCm39) |
D546E |
probably benign |
Het |
| Bcl6b |
T |
A |
11: 70,117,569 (GRCm39) |
Y379F |
probably damaging |
Het |
| Cbln2 |
T |
C |
18: 86,734,450 (GRCm39) |
V136A |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,461,294 (GRCm39) |
D120E |
probably benign |
Het |
| Cd14 |
T |
A |
18: 36,858,693 (GRCm39) |
H254L |
possibly damaging |
Het |
| Chd3 |
A |
G |
11: 69,240,931 (GRCm39) |
|
probably null |
Het |
| Csf2rb |
G |
A |
15: 78,224,692 (GRCm39) |
R150H |
probably benign |
Het |
| Dhx35 |
T |
C |
2: 158,673,784 (GRCm39) |
L405P |
probably damaging |
Het |
| Dse |
T |
A |
10: 34,031,989 (GRCm39) |
Q345L |
probably benign |
Het |
| Gnaz |
A |
G |
10: 74,850,706 (GRCm39) |
M244V |
probably damaging |
Het |
| Gpr65 |
A |
T |
12: 98,241,974 (GRCm39) |
Y209F |
possibly damaging |
Het |
| Inpp5f |
T |
C |
7: 128,269,493 (GRCm39) |
I281T |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,916,330 (GRCm39) |
F721S |
probably damaging |
Het |
| Mapk8ip2 |
G |
A |
15: 89,341,220 (GRCm39) |
|
probably null |
Het |
| Med24 |
G |
A |
11: 98,600,508 (GRCm39) |
R646W |
probably damaging |
Het |
| Nup98 |
A |
T |
7: 101,843,918 (GRCm39) |
F102Y |
probably damaging |
Het |
| Or1n2 |
A |
G |
2: 36,797,869 (GRCm39) |
M304V |
probably benign |
Het |
| Or4c35 |
G |
T |
2: 89,808,322 (GRCm39) |
V67L |
probably benign |
Het |
| Or8g50 |
A |
T |
9: 39,648,962 (GRCm39) |
M284L |
possibly damaging |
Het |
| Pgap3 |
T |
C |
11: 98,288,780 (GRCm39) |
Y125C |
probably damaging |
Het |
| Rasl12 |
T |
C |
9: 65,315,644 (GRCm39) |
V96A |
probably damaging |
Het |
| Rbm20 |
G |
A |
19: 53,801,874 (GRCm39) |
M127I |
probably damaging |
Het |
| Rnf114 |
T |
A |
2: 167,354,546 (GRCm39) |
|
probably null |
Het |
| Serpinb1b |
C |
T |
13: 33,269,294 (GRCm39) |
T9I |
possibly damaging |
Het |
| Setd1b |
T |
A |
5: 123,301,489 (GRCm39) |
F16I |
possibly damaging |
Het |
| Slc25a28 |
A |
G |
19: 43,652,947 (GRCm39) |
F238S |
probably damaging |
Het |
| Slc2a2 |
T |
C |
3: 28,759,952 (GRCm39) |
V30A |
probably damaging |
Het |
| Slc35f4 |
T |
C |
14: 49,762,962 (GRCm39) |
|
probably benign |
Het |
| Socs4 |
T |
A |
14: 47,528,107 (GRCm39) |
C347* |
probably null |
Het |
| Spock1 |
C |
T |
13: 57,578,141 (GRCm39) |
E367K |
probably damaging |
Het |
| Ubap2 |
C |
T |
4: 41,251,608 (GRCm39) |
R8H |
probably benign |
Het |
| Vmn1r44 |
T |
A |
6: 89,870,806 (GRCm39) |
M41K |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp575 |
T |
C |
7: 24,285,240 (GRCm39) |
T134A |
possibly 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 |
|
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 |
2014-05-07 |
Incidental Mutation