Mutagenetix > Incidental Mutation

Incidental Mutation 'R0437:Daxx'

39121

Institutional Source

Beutler Lab

Gene Symbol

Daxx

Ensembl Gene

ENSMUSG00000002307

Gene Name

Fas death domain-associated protein

Synonyms

MMRRC Submission

038638-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34128388-34134564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34132598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 576 (V576A)

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

unknown
Transcript: ENSMUST00000079421
AA Change: V614A

SMART Domains

Protein: ENSMUSP00000078390
Gene: ENSMUSG00000002307
AA Change: V614A

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

unknown
Transcript: ENSMUST00000170075
AA Change: V614A

SMART Domains

Protein: ENSMUSP00000128504
Gene: ENSMUSG00000002307
AA Change: V614A

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

noncoding transcript
Transcript: ENSMUST00000174646

Predicted Effect

probably benign
Transcript: ENSMUST00000174541
AA Change: V576A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000133552
Gene: ENSMUSG00000002307
AA Change: V576A

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

Predicted Effect

unknown
Transcript: ENSMUST00000174146
AA Change: V614A

SMART Domains

Protein: ENSMUSP00000134158
Gene: ENSMUSG00000002307
AA Change: V614A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174467

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (104/104)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	A	13: 119,606,631 (GRCm39)	R291K	probably benign	Het
Abca2	T	C	2: 25,332,857 (GRCm39)	S1519P	probably damaging	Het
Abcb11	G	A	2: 69,087,639 (GRCm39)	A1042V	probably damaging	Het
Abcc10	A	T	17: 46,623,845 (GRCm39)		probably null	Het
Abcc10	G	T	17: 46,623,846 (GRCm39)		probably benign	Het
Alkbh3	A	C	2: 93,811,914 (GRCm39)	L240V	probably damaging	Het
Apol10b	T	C	15: 77,469,608 (GRCm39)	S190G	probably benign	Het
Atp1a3	C	A	7: 24,698,392 (GRCm39)	C135F	probably benign	Het
Atp4a	C	G	7: 30,419,526 (GRCm39)	R659G	probably benign	Het
Bicra	A	G	7: 15,722,687 (GRCm39)	S277P	possibly damaging	Het
Bltp1	A	T	3: 37,043,953 (GRCm39)	H2820L	possibly damaging	Het
Bmp8a	T	C	4: 123,210,690 (GRCm39)	E275G	probably benign	Het
Ccdc102a	T	C	8: 95,640,054 (GRCm39)	E80G	probably damaging	Het
Cdh23	T	C	10: 60,246,576 (GRCm39)	D954G	probably damaging	Het
Chrm4	A	G	2: 91,758,788 (GRCm39)	T399A	possibly damaging	Het
Clcn3	A	G	8: 61,387,571 (GRCm39)	V199A	possibly damaging	Het
Crlf1	T	C	8: 70,952,164 (GRCm39)		probably null	Het
Crx	G	T	7: 15,605,071 (GRCm39)	S57*	probably null	Het
Cstpp1	A	G	2: 91,252,298 (GRCm39)	L21P	probably damaging	Het
Cyp4f16	A	G	17: 32,756,072 (GRCm39)	I34V	possibly damaging	Het
Ddx17	C	T	15: 79,421,672 (GRCm39)	R351H	probably damaging	Het
Dhx38	T	C	8: 110,285,261 (GRCm39)		probably benign	Het
Dnd1	T	C	18: 36,897,552 (GRCm39)		probably benign	Het
Dync1i2	A	T	2: 71,058,169 (GRCm39)		probably null	Het
E2f6	T	C	12: 16,866,446 (GRCm39)	S52P	probably benign	Het
Epb41l4a	A	G	18: 34,013,326 (GRCm39)	F116S	probably damaging	Het
Ext1	T	C	15: 52,969,502 (GRCm39)	N362S	probably damaging	Het
Fam227a	C	A	15: 79,528,189 (GRCm39)	K79N	possibly damaging	Het
Fam228a	T	A	12: 4,782,759 (GRCm39)	L111F	probably damaging	Het
Fat2	T	C	11: 55,173,625 (GRCm39)	T2363A	probably benign	Het
Fat3	A	T	9: 15,908,228 (GRCm39)	N2591K	probably damaging	Het
Frem2	A	G	3: 53,560,436 (GRCm39)	M1357T	possibly damaging	Het
Frmd4b	A	T	6: 97,400,424 (GRCm39)	V29D	probably damaging	Het
G930045G22Rik	A	G	6: 50,823,918 (GRCm39)		noncoding transcript	Het
Galnt3	A	G	2: 65,937,573 (GRCm39)	S46P	possibly damaging	Het
Gmeb2	A	G	2: 180,895,766 (GRCm39)	V468A	possibly damaging	Het
Herc2	C	T	7: 55,869,563 (GRCm39)	R4271*	probably null	Het
Il5	C	A	11: 53,614,733 (GRCm39)		probably benign	Het
Ints9	G	A	14: 65,223,818 (GRCm39)		probably benign	Het
Itga10	T	C	3: 96,556,453 (GRCm39)	F196S	probably damaging	Het
Itgb3bp	T	C	4: 99,670,126 (GRCm39)	T138A	probably damaging	Het
Kcnd1	G	A	X: 7,690,922 (GRCm39)	V281M	probably benign	Het
Lcp2	T	C	11: 34,037,229 (GRCm39)	L391P	probably benign	Het
Lrrc66	T	C	5: 73,765,030 (GRCm39)	Y671C	probably benign	Het
Mettl23	T	C	11: 116,740,120 (GRCm39)	V197A	possibly damaging	Het
Mmp15	C	A	8: 96,097,400 (GRCm39)	D456E	probably benign	Het
Mospd4	T	C	18: 46,598,848 (GRCm39)		noncoding transcript	Het
Mov10l1	C	A	15: 88,889,515 (GRCm39)	H484N	probably damaging	Het
Mphosph9	T	C	5: 124,453,631 (GRCm39)	Q197R	probably benign	Het
Ms4a1	T	A	19: 11,233,933 (GRCm39)		probably null	Het
Mybbp1a	T	C	11: 72,339,674 (GRCm39)	V919A	possibly damaging	Het
Mycbpap	A	T	11: 94,404,338 (GRCm39)		probably benign	Het
Naip6	G	A	13: 100,433,432 (GRCm39)	S1135F	possibly damaging	Het
Ndufc2	T	A	7: 97,049,544 (GRCm39)	M50K	probably benign	Het
Npr2	T	C	4: 43,648,082 (GRCm39)	V842A	probably damaging	Het
Ntsr2	G	T	12: 16,703,696 (GRCm39)	G66W	probably damaging	Het
Obscn	T	C	11: 58,885,914 (GRCm39)		probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or4c11	T	A	2: 88,695,229 (GRCm39)	N93K	probably benign	Het
Or4c114	T	A	2: 88,904,956 (GRCm39)	I160F	probably benign	Het
Or6c33	T	C	10: 129,853,965 (GRCm39)	V245A	probably damaging	Het
Or6k14	G	A	1: 173,927,965 (GRCm39)	G314R	probably benign	Het
Otud4	T	A	8: 80,396,626 (GRCm39)	H628Q	probably benign	Het
Padi6	T	C	4: 140,456,240 (GRCm39)	T585A	probably benign	Het
Pex16	G	T	2: 92,205,937 (GRCm39)	R10L	probably damaging	Het
Pitpnm2	A	G	5: 124,269,152 (GRCm39)		probably benign	Het
Pom121l2	A	G	13: 22,167,375 (GRCm39)	T549A	possibly damaging	Het
Prdm15	A	T	16: 97,613,759 (GRCm39)	M470K	probably benign	Het
Prkag2	T	A	5: 25,233,503 (GRCm39)	D49V	possibly damaging	Het
Prl3c1	A	G	13: 27,383,447 (GRCm39)	M38V	probably benign	Het
Prpf18	T	A	2: 4,648,572 (GRCm39)	I85F	possibly damaging	Het
Psg27	A	G	7: 18,294,636 (GRCm39)		probably benign	Het
Relt	A	G	7: 100,497,991 (GRCm39)		probably benign	Het
Rskr	T	C	11: 78,182,362 (GRCm39)	L57P	probably benign	Het
Serpina3b	A	T	12: 104,096,929 (GRCm39)	N70I	probably damaging	Het
Slc19a3	T	C	1: 83,000,286 (GRCm39)	S244G	probably benign	Het
Slc39a5	T	C	10: 128,235,716 (GRCm39)	T81A	possibly damaging	Het
Slc7a2	G	A	8: 41,357,563 (GRCm39)	G277D	probably damaging	Het
Slc9c1	C	T	16: 45,420,250 (GRCm39)		probably benign	Het
Slx1b	A	G	7: 126,291,753 (GRCm39)	F104L	probably benign	Het
Smg6	G	A	11: 74,820,527 (GRCm39)	S266N	probably damaging	Het
Spata9	T	C	13: 76,146,614 (GRCm39)	V162A	possibly damaging	Het
Szrd1	T	C	4: 140,846,055 (GRCm39)	I47V	probably benign	Het
Tha1	G	T	11: 117,759,401 (GRCm39)	L363M	probably benign	Het
Tmc6	G	A	11: 117,669,087 (GRCm39)	T89I	possibly damaging	Het
Tmem132d	C	T	5: 127,866,849 (GRCm39)	G684R	probably damaging	Het
Trim55	G	A	3: 19,725,142 (GRCm39)	G220S	probably benign	Het
Ttn	A	G	2: 76,600,874 (GRCm39)	L18836P	probably damaging	Het
Ubn1	G	T	16: 4,890,048 (GRCm39)		probably benign	Het
Ush2a	T	G	1: 188,643,228 (GRCm39)	W4197G	probably benign	Het
Vmn1r189	A	T	13: 22,286,231 (GRCm39)	V202E	probably damaging	Het
Vmn1r209	T	C	13: 22,990,526 (GRCm39)	I55V	probably benign	Het
Vmn2r86	A	T	10: 130,282,412 (GRCm39)	C735S	probably damaging	Het
Vwf	A	T	6: 125,543,281 (GRCm39)	D174V	probably damaging	Het
Zfp438	T	C	18: 5,214,910 (GRCm39)	N16S	probably damaging	Het
Zfp444	C	T	7: 6,192,408 (GRCm39)	T142I	probably benign	Het
Zfp804a	A	G	2: 81,884,135 (GRCm39)	M1V	probably null	Het
Zfp936	T	G	7: 42,838,734 (GRCm39)	I67S	probably benign	Het
Zfp948	A	T	17: 21,807,260 (GRCm39)	N151Y	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- GAAATGAGAGTCCCACATCGCCTTC -3'
(R):5'- TGGACACTTGTGTTCTGCCCACTG -3'

Sequencing Primer
(F):5'- TTCCATAGAAGGAATTCAGAGCCTG -3'
(R):5'- CGGTTCTTTTATATAGCTAAGGACAG -3'

Posted On

2013-05-23