Incidental Mutation 'R3924:Dpf1'
ID |
307088 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpf1
|
Ensembl Gene |
ENSMUSG00000030584 |
Gene Name |
double PHD fingers 1 |
Synonyms |
neuro-d4, Neud4 |
MMRRC Submission |
040915-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3924 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
29003366-29017017 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29011098 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 165
(R165G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103865
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049977]
[ENSMUST00000065181]
[ENSMUST00000108230]
[ENSMUST00000108231]
|
AlphaFold |
Q9QX66 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049977
AA Change: R166G
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000054385 Gene: ENSMUSG00000030584 AA Change: R166G
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 |
possibly damaging
Transcript: ENSMUST00000065181
AA Change: R165G
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000070539 Gene: ENSMUSG00000030584 AA Change: R165G
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 |
possibly damaging
Transcript: ENSMUST00000108230
AA Change: R165G
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103865 Gene: ENSMUSG00000030584 AA Change: R165G
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 |
possibly damaging
Transcript: ENSMUST00000108231
AA Change: R166G
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103866 Gene: ENSMUSG00000030584 AA Change: R166G
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 |
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: ENSMUST00000138993
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154222
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207677
|
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 |
|
Meta Mutation Damage Score |
0.2133 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (39/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
G |
T |
9: 53,343,705 (GRCm39) |
V119F |
probably benign |
Het |
Agtpbp1 |
A |
T |
13: 59,648,221 (GRCm39) |
V533D |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,983,692 (GRCm39) |
D1659N |
probably benign |
Het |
Aldh3b3 |
A |
G |
19: 4,018,491 (GRCm39) |
N402S |
probably damaging |
Het |
Amn |
T |
C |
12: 111,242,114 (GRCm39) |
V367A |
possibly damaging |
Het |
Arpin |
A |
G |
7: 79,579,435 (GRCm39) |
Y63H |
probably benign |
Het |
Brinp2 |
A |
G |
1: 158,073,778 (GRCm39) |
L781P |
probably damaging |
Het |
Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
Cfap43 |
T |
C |
19: 47,785,555 (GRCm39) |
K445R |
probably benign |
Het |
Csad |
T |
C |
15: 102,086,991 (GRCm39) |
S427G |
probably benign |
Het |
Dach1 |
A |
G |
14: 98,153,339 (GRCm39) |
V443A |
probably damaging |
Het |
Dlat |
A |
G |
9: 50,569,490 (GRCm39) |
S160P |
possibly damaging |
Het |
Dtd2 |
G |
C |
12: 52,051,734 (GRCm39) |
|
probably null |
Het |
Fa2h |
A |
G |
8: 112,120,147 (GRCm39) |
Y80H |
probably damaging |
Het |
Flii |
A |
G |
11: 60,610,902 (GRCm39) |
F509S |
probably damaging |
Het |
Fmo9 |
A |
G |
1: 166,492,221 (GRCm39) |
S350P |
probably benign |
Het |
Gabra4 |
A |
G |
5: 71,799,596 (GRCm39) |
|
probably benign |
Het |
Gm3604 |
A |
G |
13: 62,518,044 (GRCm39) |
S105P |
probably damaging |
Het |
Gpr155 |
T |
A |
2: 73,200,420 (GRCm39) |
L362F |
probably damaging |
Het |
Lmbrd2 |
T |
C |
15: 9,149,624 (GRCm39) |
V86A |
probably benign |
Het |
Lpcat4 |
G |
T |
2: 112,077,061 (GRCm39) |
Q468H |
possibly damaging |
Het |
Luzp1 |
T |
C |
4: 136,270,168 (GRCm39) |
I797T |
probably damaging |
Het |
Myh8 |
A |
T |
11: 67,187,963 (GRCm39) |
I912F |
probably damaging |
Het |
Notch2 |
G |
T |
3: 98,029,350 (GRCm39) |
G1038* |
probably null |
Het |
Nptx1 |
G |
T |
11: 119,438,333 (GRCm39) |
T28N |
possibly damaging |
Het |
Onecut2 |
A |
G |
18: 64,474,591 (GRCm39) |
K381E |
probably damaging |
Het |
Or9i2 |
T |
C |
19: 13,816,130 (GRCm39) |
T136A |
probably damaging |
Het |
Plekha5 |
A |
G |
6: 140,516,105 (GRCm39) |
N317S |
possibly damaging |
Het |
Polr1a |
A |
G |
6: 71,906,434 (GRCm39) |
M417V |
probably benign |
Het |
Ptpn13 |
T |
C |
5: 103,698,607 (GRCm39) |
|
probably benign |
Het |
Qrfpr |
T |
C |
3: 36,276,072 (GRCm39) |
N106S |
possibly damaging |
Het |
Rasd2 |
A |
G |
8: 75,948,602 (GRCm39) |
N176S |
probably damaging |
Het |
Rsbn1l |
A |
G |
5: 21,124,785 (GRCm39) |
V339A |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,859,048 (GRCm39) |
|
probably benign |
Het |
Shkbp1 |
A |
G |
7: 27,041,827 (GRCm39) |
W676R |
probably benign |
Het |
Sipa1 |
G |
A |
19: 5,710,407 (GRCm39) |
T201I |
probably benign |
Het |
Slc35g2 |
A |
T |
9: 100,434,780 (GRCm39) |
I297N |
probably benign |
Het |
Usp28 |
T |
C |
9: 48,942,223 (GRCm39) |
|
probably null |
Het |
Zfp946 |
G |
T |
17: 22,674,682 (GRCm39) |
G479C |
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 |
|
R3622:Dpf1
|
UTSW |
7 |
29,015,631 (GRCm39) |
splice site |
probably null |
|
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'- TGCCTTCCTGCTCTGAGATG -3'
(R):5'- GACAGTTCTGATCCACAAGCTC -3'
Sequencing Primer
(F):5'- TATGGCCCCGATCTCCCAG -3'
(R):5'- GATCCACAAGCTCCATTTTCG -3'
|
Posted On |
2015-04-17 |