Incidental Mutation 'R3622:Dpf1'
| ID |
268671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpf1
|
| Ensembl Gene |
ENSMUSG00000030584 |
| Gene Name |
double PHD fingers 1 |
| Synonyms |
neuro-d4, Neud4 |
| MMRRC Submission |
040677-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3622 (G1)
|
| Quality Score |
106 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29003366-29017017 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4166 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 29015631 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 null
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: ENSMUST00000138993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207245
|
| Predicted Effect |
probably null
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 null
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,950,036 (GRCm39) |
Y503* |
probably null |
Het |
| Akap9 |
C |
A |
5: 4,026,235 (GRCm39) |
Q1297K |
possibly damaging |
Het |
| Dffb |
T |
C |
4: 154,049,976 (GRCm39) |
T296A |
probably damaging |
Het |
| Elp1 |
A |
T |
4: 56,759,925 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
T |
C |
5: 143,371,774 (GRCm39) |
S666P |
probably damaging |
Het |
| Gucy2e |
T |
A |
11: 69,115,877 (GRCm39) |
E835V |
probably damaging |
Het |
| Hdac5 |
G |
A |
11: 102,086,644 (GRCm39) |
P120S |
probably benign |
Het |
| Htr1d |
T |
C |
4: 136,170,815 (GRCm39) |
I348T |
probably damaging |
Het |
| Hyal4 |
A |
T |
6: 24,765,737 (GRCm39) |
S364C |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,701,944 (GRCm39) |
Q16L |
probably benign |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Met |
A |
T |
6: 17,549,085 (GRCm39) |
D979V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,772,245 (GRCm39) |
T1702A |
probably damaging |
Het |
| Midn |
A |
G |
10: 79,986,144 (GRCm39) |
D78G |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,405,595 (GRCm39) |
|
probably benign |
Het |
| Oma1 |
T |
C |
4: 103,223,288 (GRCm39) |
I491T |
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,567 (GRCm39) |
T268A |
probably benign |
Het |
| Or5ak24 |
C |
T |
2: 85,260,837 (GRCm39) |
C112Y |
probably benign |
Het |
| Or5b107 |
T |
A |
19: 13,143,020 (GRCm39) |
M214K |
probably benign |
Het |
| Or8b48 |
A |
G |
9: 38,492,792 (GRCm39) |
Y73C |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,897,470 (GRCm39) |
L57P |
probably damaging |
Het |
| Phka2 |
T |
A |
X: 159,327,291 (GRCm39) |
Y334* |
probably null |
Het |
| Plin4 |
G |
T |
17: 56,411,112 (GRCm39) |
T973K |
possibly damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,515 (GRCm39) |
R143H |
possibly damaging |
Het |
| Rps18 |
G |
C |
17: 34,171,247 (GRCm39) |
|
probably null |
Het |
| Samd9l |
A |
T |
6: 3,374,032 (GRCm39) |
C1076* |
probably null |
Het |
| Scml4 |
T |
C |
10: 42,806,607 (GRCm39) |
|
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 40,017,890 (GRCm39) |
V48A |
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,567,371 (GRCm39) |
V275A |
probably benign |
Het |
| Smad9 |
C |
T |
3: 54,696,705 (GRCm39) |
R257W |
probably damaging |
Het |
| Snrpb |
C |
A |
2: 130,017,299 (GRCm39) |
R73L |
probably null |
Het |
| Srsf9 |
C |
T |
5: 115,468,571 (GRCm39) |
A69V |
probably damaging |
Het |
| Stfa2 |
A |
G |
16: 36,224,433 (GRCm39) |
Y90H |
probably damaging |
Het |
| Tgm6 |
T |
A |
2: 129,993,681 (GRCm39) |
V640E |
possibly damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,640,451 (GRCm39) |
R1414C |
probably damaging |
Het |
| Tyk2 |
A |
T |
9: 21,038,606 (GRCm39) |
C8S |
probably damaging |
Het |
| Upp2 |
G |
A |
2: 58,680,128 (GRCm39) |
R300Q |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,593,855 (GRCm39) |
|
probably benign |
Het |
| Veph1 |
C |
T |
3: 66,122,858 (GRCm39) |
V224I |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,437 (GRCm39) |
F132I |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,605,025 (GRCm39) |
S113G |
probably benign |
Het |
| Vps53 |
A |
C |
11: 76,008,609 (GRCm39) |
V237G |
probably benign |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCAGTGACCAGCATTAGC -3'
(R):5'- ATTAGACTGGAGCCCGATGG -3'
Sequencing Primer
(F):5'- TAGGGCCAGGATTTGAACCTC -3'
(R):5'- AGCACATGGTCTCTGCCAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation