Incidental Mutation 'IGL01622:Daxx'
ID 92608
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Daxx
Ensembl Gene ENSMUSG00000002307
Gene Name Fas death domain-associated protein
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01622
Quality Score
Status
Chromosome 17
Chromosomal Location 34128388-34134564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34132454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 528 (D528G)
Ref Sequence ENSEMBL: ENSMUSP00000133552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053429] [ENSMUST00000079421] [ENSMUST00000170075] [ENSMUST00000172619] [ENSMUST00000174146] [ENSMUST00000174541] [ENSMUST00000174463] [ENSMUST00000173028] [ENSMUST00000173626]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000053429
SMART Domains Protein: ENSMUSP00000057466
Gene: ENSMUSG00000051390

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000079421
AA Change: D566G
SMART Domains Protein: ENSMUSP00000078390
Gene: ENSMUSG00000002307
AA Change: D566G

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000170075
AA Change: D566G
SMART Domains Protein: ENSMUSP00000128504
Gene: ENSMUSG00000002307
AA Change: D566G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PDB:3F8U|D 12 119 1e-38 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172859
Predicted Effect unknown
Transcript: ENSMUST00000174146
AA Change: D566G
SMART Domains Protein: ENSMUSP00000134158
Gene: ENSMUSG00000002307
AA Change: D566G

DomainStartEndE-ValueType
Pfam:Daxx 1 740 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174541
AA Change: D528G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133552
Gene: ENSMUSG00000002307
AA Change: D528G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 3 30 N/A INTRINSIC
Pfam:BTB 47 87 7.9e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173028
SMART Domains Protein: ENSMUSP00000133319
Gene: ENSMUSG00000002307

DomainStartEndE-ValueType
Pfam:Daxx 1 137 1.6e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173626
SMART Domains Protein: ENSMUSP00000133303
Gene: ENSMUSG00000002307

DomainStartEndE-ValueType
Pfam:Daxx 1 167 6.8e-74 PFAM
Coding Region Coverage
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,532,024 (GRCm39) Q184* probably null Het
A1bg A C 15: 60,789,742 (GRCm39) I502S possibly damaging Het
Actl11 T C 9: 107,805,775 (GRCm39) S33P probably benign Het
Aftph G T 11: 20,659,632 (GRCm39) D730E probably damaging Het
Arhgap29 A G 3: 121,767,773 (GRCm39) probably benign Het
Brf1 T G 12: 112,924,795 (GRCm39) E643A probably benign Het
Caskin1 G T 17: 24,722,914 (GRCm39) probably null Het
Ccnjl T C 11: 43,476,154 (GRCm39) V259A probably benign Het
Ccser2 G T 14: 36,662,920 (GRCm39) T88K probably benign Het
Cdk17 T C 10: 93,074,824 (GRCm39) probably benign Het
Clec16a G A 16: 10,395,774 (GRCm39) S309N possibly damaging Het
Cpxm1 C A 2: 130,233,191 (GRCm39) A633S probably benign Het
Ctnnbl1 A T 2: 157,661,468 (GRCm39) N326I probably damaging Het
Cyp46a1 T C 12: 108,318,234 (GRCm39) V215A possibly damaging Het
Dnah6 T C 6: 73,121,701 (GRCm39) Y1427C probably damaging Het
Dpy19l3 G A 7: 35,422,169 (GRCm39) T228I probably damaging Het
Fam131c C T 4: 141,109,761 (GRCm39) A131V possibly damaging Het
Fat1 A G 8: 45,482,592 (GRCm39) T3061A possibly damaging Het
Fgl2 T A 5: 21,578,175 (GRCm39) L154H possibly damaging Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
Ficd G A 5: 113,876,622 (GRCm39) G266S probably damaging Het
Frem3 A G 8: 81,340,544 (GRCm39) T946A probably benign Het
Gan T A 8: 117,913,917 (GRCm39) V105D probably damaging Het
Garin5b A G 7: 4,761,722 (GRCm39) V330A probably benign Het
Gramd1c A G 16: 43,811,061 (GRCm39) V221A probably damaging Het
Hacd1 A G 2: 14,040,667 (GRCm39) V196A probably benign Het
Kcna6 C A 6: 126,715,576 (GRCm39) V438L probably damaging Het
Kif14 T C 1: 136,425,094 (GRCm39) probably benign Het
Klhl41 T C 2: 69,508,582 (GRCm39) V512A probably benign Het
Lrfn1 A G 7: 28,166,111 (GRCm39) T502A probably damaging Het
Notch3 A T 17: 32,377,844 (GRCm39) F105I possibly damaging Het
Or4b13 T G 2: 90,082,953 (GRCm39) K126N probably damaging Het
Or5m10 A T 2: 85,717,306 (GRCm39) H54L probably benign Het
P3h1 C T 4: 119,092,480 (GRCm39) T171I probably damaging Het
Pcdhb1 A G 18: 37,399,366 (GRCm39) E439G possibly damaging Het
Pik3c3 A T 18: 30,423,578 (GRCm39) K225* probably null Het
Pik3c3 A G 18: 30,426,102 (GRCm39) probably benign Het
Pik3r5 T A 11: 68,377,452 (GRCm39) probably null Het
Pnpt1 A C 11: 29,098,272 (GRCm39) probably benign Het
Ppp2r1b T A 9: 50,789,422 (GRCm39) V495D probably damaging Het
Rbfox3 C A 11: 118,396,440 (GRCm39) probably benign Het
Sec14l2 G A 11: 4,053,966 (GRCm39) P234S possibly damaging Het
Sec16a A C 2: 26,328,915 (GRCm39) D1033E probably benign Het
Septin14 A G 5: 129,763,019 (GRCm39) V357A probably damaging Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Snrpa A T 7: 26,892,395 (GRCm39) M55K probably benign Het
Swt1 G T 1: 151,286,760 (GRCm39) T244N probably benign Het
Tbl1xr1 A G 3: 22,246,238 (GRCm39) T253A probably benign Het
Tst G T 15: 78,283,964 (GRCm39) R288S probably benign Het
Vmn2r60 A G 7: 41,785,910 (GRCm39) I238V probably benign Het
Zbtb14 A G 17: 69,695,184 (GRCm39) K294R probably benign Het
Zfp710 T A 7: 79,730,871 (GRCm39) V16E probably damaging Het
Zfpm2 A G 15: 40,965,320 (GRCm39) T602A probably benign Het
Zfr2 G A 10: 81,087,193 (GRCm39) M850I probably benign Het
Other mutations in Daxx
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4320:Daxx UTSW 17 34,130,393 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-12-09