Incidental Mutation 'R6672:Dpf1'
| ID |
527170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpf1
|
| Ensembl Gene |
ENSMUSG00000030584 |
| Gene Name |
double PHD fingers 1 |
| Synonyms |
neuro-d4, Neud4 |
| MMRRC Submission |
044792-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6672 (G1)
|
| Quality Score |
185.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29003366-29017017 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29015693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 357
(C357R)
|
| 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: C347R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054385
Gene: ENSMUSG00000030584
AA Change: C347R
| 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: C346R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070539
Gene: ENSMUSG00000030584
AA Change: C346R
| 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: C312R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103865
Gene: ENSMUSG00000030584
AA Change: C312R
| 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: C357R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103866
Gene: ENSMUSG00000030584
AA Change: C357R
| 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: ENSMUST00000207245
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000154222
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000207677
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138993
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000182223
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183330
|
| Meta Mutation Damage Score |
0.9752 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
C |
T |
7: 26,903,489 (GRCm39) |
|
probably benign |
Het |
| Adam24 |
A |
G |
8: 41,134,572 (GRCm39) |
E680G |
probably benign |
Het |
| Adam7 |
T |
A |
14: 68,742,151 (GRCm39) |
|
probably null |
Het |
| Arid2 |
C |
T |
15: 96,260,226 (GRCm39) |
T351I |
probably benign |
Het |
| Asz1 |
T |
A |
6: 18,075,817 (GRCm39) |
E252V |
possibly damaging |
Het |
| Chrm5 |
C |
T |
2: 112,310,141 (GRCm39) |
C325Y |
probably benign |
Het |
| Cimap1a |
A |
G |
7: 140,428,340 (GRCm39) |
S25G |
probably benign |
Het |
| Cyp2c65 |
A |
G |
19: 39,076,118 (GRCm39) |
R357G |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,402,957 (GRCm39) |
V265A |
probably damaging |
Het |
| Dhx36 |
T |
A |
3: 62,408,300 (GRCm39) |
E179D |
probably benign |
Het |
| Dip2c |
G |
A |
13: 9,617,866 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
T |
1: 80,490,248 (GRCm39) |
M1958K |
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,624,568 (GRCm39) |
R3703C |
probably damaging |
Het |
| Eef1g |
A |
G |
19: 8,944,411 (GRCm39) |
|
probably null |
Het |
| Gnl2 |
T |
C |
4: 124,942,186 (GRCm39) |
V397A |
probably damaging |
Het |
| Gramd2b |
A |
G |
18: 56,565,408 (GRCm39) |
E21G |
possibly damaging |
Het |
| Grik3 |
C |
A |
4: 125,517,309 (GRCm39) |
Q51K |
probably benign |
Het |
| Hectd2 |
G |
T |
19: 36,564,780 (GRCm39) |
Q20H |
probably damaging |
Het |
| Krtap5-1 |
A |
G |
7: 141,850,233 (GRCm39) |
C192R |
unknown |
Het |
| Lrpap1 |
A |
T |
5: 35,256,577 (GRCm39) |
M135K |
probably benign |
Het |
| Lrrc9 |
G |
A |
12: 72,520,710 (GRCm39) |
R664H |
possibly damaging |
Het |
| Mef2c |
T |
G |
13: 83,800,975 (GRCm39) |
V225G |
probably damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,753,263 (GRCm39) |
L56P |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,643,020 (GRCm39) |
|
probably null |
Het |
| Or12j4 |
G |
A |
7: 140,046,648 (GRCm39) |
C178Y |
probably damaging |
Het |
| Or5ak23 |
T |
A |
2: 85,244,948 (GRCm39) |
I92L |
possibly damaging |
Het |
| Ppp1r3d |
T |
C |
2: 178,055,552 (GRCm39) |
E150G |
possibly damaging |
Het |
| Smpd1 |
A |
G |
7: 105,204,480 (GRCm39) |
M120V |
probably benign |
Het |
| Zbtb46 |
A |
G |
2: 181,053,629 (GRCm39) |
L361P |
probably benign |
Het |
| Zfp605 |
A |
G |
5: 110,275,863 (GRCm39) |
H327R |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTACAAAATCCGACTCCGTG -3'
(R):5'- TTCAAGTGCCGGAGACAGAG -3'
Sequencing Primer
(F):5'- CCAGTTTTCTCAGAAGGG -3'
(R):5'- TTAGACTGGAGCCCGATGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation