Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02432:Daxx'

293175

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 #

IGL02432

Quality Score

Status

Chromosome

Chromosomal Location

34128388-34134564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34131311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 413 (D413N)

Ref Sequence

ENSEMBL: ENSMUSP00000133552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053429] [ENSMUST00000079421] [ENSMUST00000170075] [ENSMUST00000172619] [ENSMUST00000173028] [ENSMUST00000174541] [ENSMUST00000174146] [ENSMUST00000173626] [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 benign
Transcript: ENSMUST00000079421
AA Change: D413N

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000078390
Gene: ENSMUSG00000002307
AA Change: D413N

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 benign
Transcript: ENSMUST00000170075
AA Change: D413N

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128504
Gene: ENSMUSG00000002307
AA Change: D413N

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

noncoding transcript
Transcript: ENSMUST00000172859

Predicted Effect

probably benign
Transcript: ENSMUST00000173028

SMART Domains

Protein: ENSMUSP00000133319
Gene: ENSMUSG00000002307

Domain	Start	End	E-Value	Type
Pfam:Daxx	1	137	1.6e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174541
AA Change: D413N

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133552
Gene: ENSMUSG00000002307
AA Change: D413N

Domain	Start	End	E-Value	Type
Pfam:Daxx	1	702	1.5e-297	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174146
AA Change: D413N

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134158
Gene: ENSMUSG00000002307
AA Change: D413N

Domain	Start	End	E-Value	Type
Pfam:Daxx	1	740	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174321

Predicted Effect

probably benign
Transcript: ENSMUST00000173626

SMART Domains

Protein: ENSMUSP00000133303
Gene: ENSMUSG00000002307

Domain	Start	End	E-Value	Type
Pfam:Daxx	1	167	6.8e-74	PFAM

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

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	G	A	2: 151,314,481 (GRCm39)	T399M	probably benign	Het
A830018L16Rik	A	T	1: 11,818,303 (GRCm39)	N321I	probably damaging	Het
Aimp1	T	C	3: 132,379,738 (GRCm39)	T135A	probably benign	Het
Ascc3	T	C	10: 50,576,589 (GRCm39)	M848T	probably damaging	Het
Cry2	T	C	2: 92,244,012 (GRCm39)	D387G	probably damaging	Het
Gbp6	A	T	5: 105,422,228 (GRCm39)	V492E	probably benign	Het
Itpr2	T	A	6: 146,226,671 (GRCm39)	M1358L	probably benign	Het
Med13l	T	A	5: 118,876,465 (GRCm39)	D880E	possibly damaging	Het
Mmd2	A	T	5: 142,561,094 (GRCm39)	I47N	probably damaging	Het
Mroh2b	G	A	15: 4,943,668 (GRCm39)	M401I	probably benign	Het
Nrip1	T	C	16: 76,088,668 (GRCm39)	K963R	probably benign	Het
Otop2	A	G	11: 115,219,988 (GRCm39)	H276R	probably damaging	Het
Pxn	T	A	5: 115,683,805 (GRCm39)	D79E	probably damaging	Het
Rho	G	A	6: 115,909,146 (GRCm39)	V61I	probably damaging	Het
Rtp1	A	G	16: 23,250,154 (GRCm39)	Y173C	probably damaging	Het
Slc6a17	T	C	3: 107,400,493 (GRCm39)	D212G	possibly damaging	Het
Stpg1	A	G	4: 135,235,321 (GRCm39)	E54G	probably damaging	Het
Tas2r119	A	G	15: 32,177,853 (GRCm39)	T140A	probably benign	Het
Traf3ip3	C	T	1: 192,866,884 (GRCm39)	C316Y	probably damaging	Het
Ttc28	G	A	5: 111,371,101 (GRCm39)	A517T	probably damaging	Het
Vmn1r30	T	C	6: 58,412,655 (GRCm39)	N59S	probably benign	Het
Vmn2r4	C	T	3: 64,313,821 (GRCm39)	V387M	probably benign	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
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

2015-04-16