Incidental Mutation 'R1690:Dpf2'
ID |
191748 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpf2
|
Ensembl Gene |
ENSMUSG00000024826 |
Gene Name |
double PHD fingers 2 |
Synonyms |
ubi-d4, 2210010M07Rik, requiem, Baf45d, Req |
MMRRC Submission |
039723-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.905)
|
Stock # |
R1690 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
5946544-5962899 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 5955490 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 131
(R131Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113465
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118623]
[ENSMUST00000136983]
|
AlphaFold |
Q61103 |
Predicted Effect |
unknown
Transcript: ENSMUST00000025746
AA Change: R86Q
|
SMART Domains |
Protein: ENSMUSP00000025746 Gene: ENSMUSG00000024826 AA Change: R86Q
Domain | Start | End | E-Value | Type |
Pfam:Requiem_N
|
1 |
40 |
1.4e-19 |
PFAM |
low complexity region
|
115 |
131 |
N/A |
INTRINSIC |
low complexity region
|
134 |
152 |
N/A |
INTRINSIC |
ZnF_C2H2
|
165 |
188 |
4.47e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118623
AA Change: R131Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113465 Gene: ENSMUSG00000024826 AA Change: R131Q
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 |
noncoding transcript
Transcript: ENSMUST00000129816
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136983
AA Change: R131Q
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000120125 Gene: ENSMUSG00000024826 AA Change: R131Q
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: ENSMUST00000137465
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142995
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154365
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn4 |
A |
G |
7: 28,610,950 (GRCm39) |
S263P |
probably damaging |
Het |
Adcy10 |
A |
G |
1: 165,347,494 (GRCm39) |
E403G |
probably damaging |
Het |
Adgrg7 |
A |
T |
16: 56,615,993 (GRCm39) |
V11E |
probably damaging |
Het |
Arhgap35 |
A |
G |
7: 16,297,206 (GRCm39) |
C620R |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,739,505 (GRCm39) |
|
probably null |
Het |
Cfap54 |
A |
G |
10: 92,871,304 (GRCm39) |
S639P |
possibly damaging |
Het |
Csf2rb |
T |
C |
15: 78,232,844 (GRCm39) |
V717A |
probably benign |
Het |
D17H6S53E |
A |
G |
17: 35,346,188 (GRCm39) |
D33G |
possibly damaging |
Het |
Dtx3l |
C |
T |
16: 35,753,638 (GRCm39) |
A323T |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fgf15 |
A |
G |
7: 144,453,665 (GRCm39) |
S213G |
probably damaging |
Het |
Fmn1 |
T |
A |
2: 113,355,827 (GRCm39) |
F756Y |
unknown |
Het |
Hnrnpk |
T |
A |
13: 58,548,168 (GRCm39) |
T13S |
probably benign |
Het |
Htr3b |
T |
A |
9: 48,848,394 (GRCm39) |
M284L |
possibly damaging |
Het |
Itgal |
T |
C |
7: 126,901,289 (GRCm39) |
M225T |
possibly damaging |
Het |
Lipi |
A |
G |
16: 75,338,013 (GRCm39) |
Y454H |
probably damaging |
Het |
Lrit3 |
T |
C |
3: 129,594,394 (GRCm39) |
K61R |
probably damaging |
Het |
Lta4h |
A |
G |
10: 93,320,554 (GRCm39) |
D583G |
probably benign |
Het |
Mettl17 |
T |
A |
14: 52,128,918 (GRCm39) |
V396D |
probably damaging |
Het |
Nlrc4 |
G |
A |
17: 74,744,518 (GRCm39) |
R788* |
probably null |
Het |
Or8k25 |
T |
A |
2: 86,244,298 (GRCm39) |
I33F |
probably benign |
Het |
Pepd |
G |
A |
7: 34,730,782 (GRCm39) |
G278D |
probably damaging |
Het |
Pramel23 |
T |
C |
4: 143,424,693 (GRCm39) |
E250G |
probably benign |
Het |
Prkcsh |
T |
A |
9: 21,921,871 (GRCm39) |
D245E |
probably damaging |
Het |
Prlr |
A |
T |
15: 10,317,676 (GRCm39) |
D84V |
probably damaging |
Het |
Pth2r |
C |
T |
1: 65,411,462 (GRCm39) |
T333I |
probably benign |
Het |
Ptk2 |
T |
A |
15: 73,134,459 (GRCm39) |
I547F |
probably damaging |
Het |
Rab11fip2 |
A |
T |
19: 59,925,732 (GRCm39) |
S162T |
probably damaging |
Het |
Rnf41 |
C |
A |
10: 128,271,329 (GRCm39) |
Q80K |
possibly damaging |
Het |
Scn7a |
T |
G |
2: 66,506,287 (GRCm39) |
D1534A |
probably damaging |
Het |
Septin12 |
A |
G |
16: 4,806,378 (GRCm39) |
V261A |
probably damaging |
Het |
Sh2d4a |
T |
C |
8: 68,747,101 (GRCm39) |
S110P |
probably benign |
Het |
Soat1 |
A |
T |
1: 156,272,144 (GRCm39) |
S114T |
probably benign |
Het |
Taar8a |
A |
G |
10: 23,952,813 (GRCm39) |
Y139C |
probably damaging |
Het |
Tcf12 |
A |
G |
9: 71,777,354 (GRCm39) |
|
probably null |
Het |
Tmem202 |
T |
A |
9: 59,426,391 (GRCm39) |
R258S |
possibly damaging |
Het |
Ttc39b |
A |
T |
4: 83,145,414 (GRCm39) |
I604N |
probably damaging |
Het |
Vit |
A |
G |
17: 78,932,294 (GRCm39) |
D467G |
probably damaging |
Het |
Zc3hc1 |
A |
G |
6: 30,390,940 (GRCm39) |
V21A |
probably damaging |
Het |
Zfp608 |
T |
A |
18: 55,120,706 (GRCm39) |
I294F |
possibly damaging |
Het |
Zfp825 |
T |
A |
13: 74,628,781 (GRCm39) |
H227L |
probably benign |
Het |
|
Other mutations in Dpf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01769:Dpf2
|
APN |
19 |
5,962,810 (GRCm39) |
utr 5 prime |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGGGCAACTTCAGCTTCCATTC -3'
(R):5'- CCACATGGTGTAGGTTCAGCTTCAG -3'
Sequencing Primer
(F):5'- GTGCTAGGGCTTACATACACATC -3'
(R):5'- AGCTTCAGCCCTTCTCAGTTAG -3'
|
Posted On |
2014-05-14 |