Incidental Mutation 'R4320:Daxx'
| ID |
323794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Daxx
|
| Ensembl Gene |
ENSMUSG00000002307 |
| Gene Name |
Fas death domain-associated protein |
| Synonyms |
|
| MMRRC Submission |
041661-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4320 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34128388-34134564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34130393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 136
(L136P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053429]
[ENSMUST00000079421]
[ENSMUST00000170075]
[ENSMUST00000172619]
[ENSMUST00000172817]
[ENSMUST00000174146]
[ENSMUST00000173028]
[ENSMUST00000173626]
[ENSMUST00000174541]
[ENSMUST00000174463]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053429
|
| SMART Domains |
Protein: ENSMUSP00000057466
Gene: ENSMUSG00000051390
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
30 |
N/A |
INTRINSIC |
|
BTB
|
57 |
151 |
7.21e-22 |
SMART |
|
low complexity region
|
152 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
460 |
479 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
483 |
504 |
1.24e2 |
SMART |
|
ZnF_C2H2
|
510 |
532 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
538 |
559 |
4.69e0 |
SMART |
|
low complexity region
|
567 |
587 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079421
AA Change: L136P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078390
Gene: ENSMUSG00000002307
AA Change: L136P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
20 |
N/A |
INTRINSIC |
|
Pfam:Daxx
|
54 |
152 |
1.3e-51 |
PFAM |
|
Blast:KISc
|
185 |
261 |
2e-17 |
BLAST |
|
PDB:4H9S|F
|
189 |
404 |
1e-131 |
PDB |
|
SCOP:d1sig__
|
437 |
493 |
7e-3 |
SMART |
|
low complexity region
|
573 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
693 |
715 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170075
AA Change: L136P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128504
Gene: ENSMUSG00000002307
AA Change: L136P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Daxx
|
1 |
740 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172526
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172619
|
| SMART Domains |
Protein: ENSMUSP00000134695
Gene: ENSMUSG00000024308
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3F8U|D
|
12 |
119 |
1e-38 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172817
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172859
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174146
AA Change: L136P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134158
Gene: ENSMUSG00000002307
AA Change: L136P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Daxx
|
1 |
740 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173028
AA Change: L136P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133319
Gene: ENSMUSG00000002307
AA Change: L136P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Daxx
|
1 |
137 |
1.6e-61 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173626
AA Change: L136P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133303
Gene: ENSMUSG00000002307
AA Change: L136P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Daxx
|
1 |
167 |
6.8e-74 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174541
AA Change: L136P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133552
Gene: ENSMUSG00000002307
AA Change: L136P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Daxx
|
1 |
702 |
1.5e-297 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174321
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173279
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174467
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174463
|
| SMART Domains |
Protein: ENSMUSP00000133345
Gene: ENSMUSG00000051390
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
30 |
N/A |
INTRINSIC |
|
Pfam:BTB
|
47 |
87 |
7.9e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.9382 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (46/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety of proteins, such as apoptosis antigen Fas, centromere protein C, and transcription factor erythroblastosis virus E26 oncogene homolog 1. In the nucleus, the encoded protein functions as a potent transcription repressor that binds to sumoylated transcription factors. Its repression can be relieved by the sequestration of this protein into promyelocytic leukemia nuclear bodies or nucleoli. This protein also associates with centromeres in G2 phase. In the cytoplasm, the encoded protein may function to regulate apoptosis. The subcellular localization and function of this protein are modulated by post-translational modifications, including sumoylation, phosphorylation and polyubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a targeted mutation of this gene display extensive apoptosis and embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,740,076 (GRCm39) |
V826I |
possibly damaging |
Het |
| Arid4a |
T |
A |
12: 71,116,769 (GRCm39) |
I609N |
possibly damaging |
Het |
| Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
| Brix1 |
A |
T |
15: 10,483,398 (GRCm39) |
M91K |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Cdh10 |
A |
G |
15: 18,985,251 (GRCm39) |
D305G |
probably benign |
Het |
| Fmo1 |
A |
T |
1: 162,661,200 (GRCm39) |
L361Q |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| Gm5114 |
T |
G |
7: 39,057,051 (GRCm39) |
Y856S |
probably damaging |
Het |
| Grk5 |
C |
T |
19: 61,080,383 (GRCm39) |
R576* |
probably null |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Htr1f |
T |
C |
16: 64,747,050 (GRCm39) |
I81V |
possibly damaging |
Het |
| Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
| Mtf2 |
T |
A |
5: 108,234,891 (GRCm39) |
C3S |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,437,947 (GRCm39) |
R836G |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,007,960 (GRCm39) |
N241D |
possibly damaging |
Het |
| Or12j2 |
T |
A |
7: 139,916,219 (GRCm39) |
I148N |
possibly damaging |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Or7g25 |
A |
C |
9: 19,160,052 (GRCm39) |
I214M |
probably damaging |
Het |
| Or7g28 |
G |
T |
9: 19,272,254 (GRCm39) |
Y132* |
probably null |
Het |
| Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
| Pax2 |
T |
A |
19: 44,823,838 (GRCm39) |
F366I |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Plekha5 |
A |
G |
6: 140,489,543 (GRCm39) |
K316E |
possibly damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,564,502 (GRCm39) |
N8K |
probably damaging |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
| Sostdc1 |
C |
A |
12: 36,367,419 (GRCm39) |
S198R |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
T |
15: 9,679,429 (GRCm39) |
I636K |
possibly damaging |
Het |
| Stat4 |
A |
G |
1: 52,113,866 (GRCm39) |
N192S |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,960,493 (GRCm39) |
H66R |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,299,325 (GRCm39) |
E1101G |
possibly damaging |
Het |
| Trpa1 |
G |
T |
1: 14,944,676 (GRCm39) |
H1023N |
probably benign |
Het |
| Tsen15 |
A |
T |
1: 152,259,460 (GRCm39) |
D66E |
probably damaging |
Het |
| Tssk3 |
A |
G |
4: 129,382,994 (GRCm39) |
V226A |
possibly damaging |
Het |
| Ufl1 |
T |
A |
4: 25,278,601 (GRCm39) |
|
probably null |
Het |
| Usp3 |
A |
G |
9: 66,437,530 (GRCm39) |
C258R |
possibly damaging |
Het |
| Vmn2r117 |
TC |
T |
17: 23,698,487 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Daxx |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00473:Daxx
|
APN |
17 |
34,130,581 (GRCm39) |
nonsense |
probably null |
|
|
IGL01066:Daxx
|
APN |
17 |
34,132,867 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01622:Daxx
|
APN |
17 |
34,132,454 (GRCm39) |
missense |
probably benign |
|
|
IGL02245:Daxx
|
APN |
17 |
34,131,351 (GRCm39) |
splice site |
probably benign |
|
|
IGL02432:Daxx
|
APN |
17 |
34,131,311 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02484:Daxx
|
APN |
17 |
34,131,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02992:Daxx
|
APN |
17 |
34,130,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0302:Daxx
|
UTSW |
17 |
34,132,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0356:Daxx
|
UTSW |
17 |
34,132,867 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0437:Daxx
|
UTSW |
17 |
34,132,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0635:Daxx
|
UTSW |
17 |
34,131,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0932:Daxx
|
UTSW |
17 |
34,129,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1498:Daxx
|
UTSW |
17 |
34,131,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Daxx
|
UTSW |
17 |
34,130,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1996:Daxx
|
UTSW |
17 |
34,132,585 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2367:Daxx
|
UTSW |
17 |
34,130,821 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4321:Daxx
|
UTSW |
17 |
34,130,380 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5055:Daxx
|
UTSW |
17 |
34,131,134 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5546:Daxx
|
UTSW |
17 |
34,131,615 (GRCm39) |
small deletion |
probably benign |
|
|
R5547:Daxx
|
UTSW |
17 |
34,131,633 (GRCm39) |
small deletion |
probably benign |
|
|
R5547:Daxx
|
UTSW |
17 |
34,131,615 (GRCm39) |
small deletion |
probably benign |
|
|
R5591:Daxx
|
UTSW |
17 |
34,130,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6317:Daxx
|
UTSW |
17 |
34,130,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6362:Daxx
|
UTSW |
17 |
34,130,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6493:Daxx
|
UTSW |
17 |
34,131,345 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7100:Daxx
|
UTSW |
17 |
34,130,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7176:Daxx
|
UTSW |
17 |
34,132,292 (GRCm39) |
missense |
unknown |
|
|
R7310:Daxx
|
UTSW |
17 |
34,129,435 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7418:Daxx
|
UTSW |
17 |
34,129,579 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7476:Daxx
|
UTSW |
17 |
34,130,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7955:Daxx
|
UTSW |
17 |
34,131,229 (GRCm39) |
nonsense |
probably null |
|
|
R8369:Daxx
|
UTSW |
17 |
34,131,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8748:Daxx
|
UTSW |
17 |
34,131,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9447:Daxx
|
UTSW |
17 |
34,132,247 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTTGAACTGTGTAAGACGGAG -3'
(R):5'- GAATCTCGGCTACGTACAGTG -3'
Sequencing Primer
(F):5'- CTTGAACTGTGTAAGACGGAGACATC -3'
(R):5'- TACGTACAGTGCCAGCAGCTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation