Incidental Mutation 'IGL01769:Dpf2'
| ID |
153817 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dpf2
|
| Ensembl Gene |
ENSMUSG00000024826 |
| Gene Name |
double PHD fingers 2 |
| Synonyms |
ubi-d4, 2210010M07Rik, requiem, Baf45d, Req |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.905)
|
| Stock # |
IGL01769
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5946544-5962899 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
T to C
at 5962810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055458]
[ENSMUST00000118623]
[ENSMUST00000136983]
|
| AlphaFold |
Q61103 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055458
|
| SMART Domains |
Protein: ENSMUSP00000059883
Gene: ENSMUSG00000045664
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
30 |
66 |
2.93e-6 |
SMART |
|
Pfam:BORG_CEP
|
103 |
206 |
1.3e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118623
|
| SMART Domains |
Protein: ENSMUSP00000113465
Gene: ENSMUSG00000024826
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Requiem_N
|
13 |
84 |
7.9e-40 |
PFAM |
|
low complexity region
|
159 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
196 |
N/A |
INTRINSIC |
|
PDB:3IUF|A
|
203 |
263 |
1e-21 |
PDB |
|
PHD
|
286 |
342 |
8.64e-9 |
SMART |
|
RING
|
287 |
341 |
3.83e0 |
SMART |
|
PHD
|
343 |
389 |
8.9e-11 |
SMART |
|
RING
|
344 |
388 |
9.75e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123029
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136983
|
| SMART Domains |
Protein: ENSMUSP00000120125
Gene: ENSMUSG00000024826
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Requiem_N
|
12 |
85 |
6.2e-41 |
PFAM |
|
low complexity region
|
159 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
196 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
209 |
232 |
4.47e-3 |
SMART |
|
PHD
|
272 |
328 |
8.64e-9 |
SMART |
|
RING
|
273 |
327 |
3.83e0 |
SMART |
|
PHD
|
329 |
375 |
8.9e-11 |
SMART |
|
RING
|
330 |
374 |
9.75e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142995
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155937
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209642
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a floxed allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
T |
A |
7: 130,959,215 (GRCm39) |
M162L |
probably benign |
Het |
| Aldh1a1 |
A |
T |
19: 20,620,283 (GRCm39) |
T487S |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,171,030 (GRCm39) |
|
probably benign |
Het |
| Cldn10 |
G |
A |
14: 119,111,129 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
G |
A |
6: 102,185,145 (GRCm39) |
T657I |
probably damaging |
Het |
| Crb1 |
A |
T |
1: 139,264,806 (GRCm39) |
I204K |
probably damaging |
Het |
| Crim1 |
C |
A |
17: 78,620,664 (GRCm39) |
T368K |
probably benign |
Het |
| Csad |
C |
A |
15: 102,088,516 (GRCm39) |
V237L |
probably benign |
Het |
| Cyp39a1 |
T |
G |
17: 44,060,806 (GRCm39) |
H451Q |
possibly damaging |
Het |
| Dclk2 |
T |
C |
3: 86,723,667 (GRCm39) |
E376G |
possibly damaging |
Het |
| Dnah10 |
A |
T |
5: 124,842,008 (GRCm39) |
Y1331F |
possibly damaging |
Het |
| Dnajc11 |
A |
T |
4: 152,063,759 (GRCm39) |
I452L |
probably damaging |
Het |
| Elovl2 |
A |
C |
13: 41,340,420 (GRCm39) |
V225G |
probably damaging |
Het |
| Fancd2 |
T |
A |
6: 113,522,072 (GRCm39) |
H222Q |
possibly damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Flt4 |
C |
T |
11: 49,525,998 (GRCm39) |
|
probably benign |
Het |
| Foxp2 |
T |
C |
6: 15,409,834 (GRCm39) |
V478A |
possibly damaging |
Het |
| H2-Q1 |
G |
A |
17: 35,542,505 (GRCm39) |
V317M |
probably benign |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Igkv3-5 |
G |
A |
6: 70,640,336 (GRCm39) |
|
probably benign |
Het |
| Isg20 |
G |
A |
7: 78,564,129 (GRCm39) |
C12Y |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Nat8f5 |
G |
A |
6: 85,794,859 (GRCm39) |
R34C |
probably benign |
Het |
| Or8d2 |
T |
C |
9: 38,759,629 (GRCm39) |
V73A |
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,319,932 (GRCm39) |
S454P |
probably benign |
Het |
| Rarb |
T |
A |
14: 16,443,760 (GRCm38) |
E176V |
probably damaging |
Het |
| Sema4a |
T |
A |
3: 88,357,063 (GRCm39) |
I303F |
possibly damaging |
Het |
| Slc25a24 |
G |
A |
3: 109,056,816 (GRCm39) |
E110K |
probably damaging |
Het |
| Slc7a13 |
A |
T |
4: 19,839,527 (GRCm39) |
I377L |
probably benign |
Het |
| Smim19 |
T |
C |
8: 22,953,393 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
A |
G |
17: 3,477,565 (GRCm39) |
Y596C |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Ubxn8 |
G |
A |
8: 34,119,406 (GRCm39) |
|
probably benign |
Het |
| Vmn2r108 |
C |
A |
17: 20,691,280 (GRCm39) |
M414I |
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,600,377 (GRCm39) |
N467S |
probably damaging |
Het |
| Zfp456 |
T |
A |
13: 67,515,272 (GRCm39) |
T145S |
probably benign |
Het |
|
| Other mutations in Dpf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Tilt
|
UTSW |
19 |
5,955,560 (GRCm39) |
nonsense |
probably null |
|
|
R0601:Dpf2
|
UTSW |
19 |
5,952,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0826:Dpf2
|
UTSW |
19 |
5,957,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1690:Dpf2
|
UTSW |
19 |
5,955,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Dpf2
|
UTSW |
19 |
5,956,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Dpf2
|
UTSW |
19 |
5,952,781 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4193:Dpf2
|
UTSW |
19 |
5,957,044 (GRCm39) |
nonsense |
probably null |
|
|
R4648:Dpf2
|
UTSW |
19 |
5,957,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Dpf2
|
UTSW |
19 |
5,954,515 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4687:Dpf2
|
UTSW |
19 |
5,957,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4734:Dpf2
|
UTSW |
19 |
5,957,027 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4763:Dpf2
|
UTSW |
19 |
5,952,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6522:Dpf2
|
UTSW |
19 |
5,955,560 (GRCm39) |
nonsense |
probably null |
|
|
R7206:Dpf2
|
UTSW |
19 |
5,954,571 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7896:Dpf2
|
UTSW |
19 |
5,954,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9138:Dpf2
|
UTSW |
19 |
5,948,593 (GRCm39) |
missense |
probably benign |
|
|
R9251:Dpf2
|
UTSW |
19 |
5,957,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Dpf2
|
UTSW |
19 |
5,952,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation