Mutagenetix > Incidental Mutation

Incidental Mutation 'R6362:Daxx'

512553

Institutional Source

Beutler Lab

Gene Symbol

Daxx

Ensembl Gene

ENSMUSG00000002307

Gene Name

Fas death domain-associated protein

Synonyms

MMRRC Submission

044512-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6362 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34128388-34134564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34130338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 118 (V118I)

Ref Sequence

ENSEMBL: ENSMUSP00000133319 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053429] [ENSMUST00000079421] [ENSMUST00000170075] [ENSMUST00000172619] [ENSMUST00000172817] [ENSMUST00000173028] [ENSMUST00000173626] [ENSMUST00000174146] [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

possibly damaging
Transcript: ENSMUST00000079421
AA Change: V118I

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078390
Gene: ENSMUSG00000002307
AA Change: V118I

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

possibly damaging
Transcript: ENSMUST00000170075
AA Change: V118I

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128504
Gene: ENSMUSG00000002307
AA Change: V118I

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: ENSMUST00000173028
AA Change: V118I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133319
Gene: ENSMUSG00000002307
AA Change: V118I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173626
AA Change: V118I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133303
Gene: ENSMUSG00000002307
AA Change: V118I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174146
AA Change: V118I

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134158
Gene: ENSMUSG00000002307
AA Change: V118I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174541
AA Change: V118I

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133552
Gene: ENSMUSG00000002307
AA Change: V118I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174646

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174467

Meta Mutation Damage Score

0.3876

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

99% (78/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh5a1	T	G	13: 25,102,533 (GRCm39)	D310A	probably benign	Het
Als2cl	T	A	9: 110,724,514 (GRCm39)		probably null	Het
Amacr	C	A	15: 10,984,891 (GRCm39)	R170S	probably damaging	Het
Brwd1	C	T	16: 95,803,507 (GRCm39)	R2221Q	probably damaging	Het
Cacna1g	A	T	11: 94,330,533 (GRCm39)		probably null	Het
Cd3d	G	A	9: 44,897,589 (GRCm39)	D157N	probably damaging	Het
Cep131	T	C	11: 119,955,516 (GRCm39)	D1043G	probably damaging	Het
Cimip1	T	G	2: 173,369,967 (GRCm39)		probably null	Het
Cit	A	G	5: 116,024,735 (GRCm39)	D326G	probably benign	Het
Col16a1	G	C	4: 129,959,983 (GRCm39)	G370R	unknown	Het
Col6a3	T	A	1: 90,738,285 (GRCm39)	Y1078F	probably damaging	Het
Colgalt2	A	C	1: 152,347,549 (GRCm39)	Y161S	probably damaging	Het
Cyp2j13	A	G	4: 95,959,932 (GRCm39)	Y75H	probably damaging	Het
Dennd5a	G	T	7: 109,533,472 (GRCm39)	C75*	probably null	Het
Diaph3	A	G	14: 87,009,566 (GRCm39)	L1071P	probably damaging	Het
Disp3	A	G	4: 148,338,765 (GRCm39)	L802P	possibly damaging	Het
Dmc1	A	G	15: 79,473,024 (GRCm39)	V141A	probably benign	Het
Dsc2	A	T	18: 20,168,520 (GRCm39)	Y45*	probably null	Het
Dspp	A	G	5: 104,323,900 (GRCm39)	I348V	probably benign	Het
Epb42	C	A	2: 120,856,260 (GRCm39)	C428F	possibly damaging	Het
Fam227a	G	T	15: 79,527,551 (GRCm39)	P100Q	possibly damaging	Het
Fer1l4	C	T	2: 155,890,170 (GRCm39)	V252I	probably benign	Het
Fhod1	C	A	8: 106,058,273 (GRCm39)		probably null	Het
Fhod3	G	T	18: 24,887,312 (GRCm39)	A68S	probably benign	Het
Gatm	T	C	2: 122,428,677 (GRCm39)	D328G	probably benign	Het
Gm6401	G	T	14: 41,789,727 (GRCm39)	H44N	probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gpr84	G	A	15: 103,216,937 (GRCm39)	A380V	probably damaging	Het
Herc1	G	T	9: 66,379,190 (GRCm39)	W3492L	probably damaging	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Jag2	T	A	12: 112,883,742 (GRCm39)	K246N	probably damaging	Het
Klhl32	T	C	4: 24,629,195 (GRCm39)	D524G	probably null	Het
Lax1	A	G	1: 133,608,334 (GRCm39)	S136P	possibly damaging	Het
Lefty1	A	G	1: 180,764,725 (GRCm39)	K217E	probably benign	Het
Lgr5	A	G	10: 115,314,430 (GRCm39)	L169P	probably damaging	Het
Lrrc37	G	C	11: 103,511,478 (GRCm39)	N163K	unknown	Het
Mad1l1	A	T	5: 140,300,810 (GRCm39)	S29T	possibly damaging	Het
Man1a	T	C	10: 53,950,891 (GRCm39)	H77R	probably benign	Het
Met	C	T	6: 17,558,732 (GRCm39)	S1120F	probably damaging	Het
Mfsd4b2	A	T	10: 39,797,605 (GRCm39)	I250N	probably damaging	Het
Myod1	A	G	7: 46,026,305 (GRCm39)	H70R	possibly damaging	Het
Neb	T	C	2: 52,102,704 (GRCm39)	N4280S	probably benign	Het
Nudt6	T	C	3: 37,473,638 (GRCm39)	T28A	possibly damaging	Het
Nup85	A	G	11: 115,474,560 (GRCm39)	E628G	probably damaging	Het
Oaz3	A	T	3: 94,342,295 (GRCm39)	D120E	probably damaging	Het
Or2y3	A	T	17: 38,393,620 (GRCm39)	M83K	probably damaging	Het
Or5b102	A	T	19: 13,040,709 (GRCm39)		probably benign	Het
Or5be3	C	T	2: 86,863,633 (GRCm39)	A311T	probably benign	Het
Or5m8	C	A	2: 85,822,285 (GRCm39)	N41K	probably damaging	Het
Or6c1b	A	C	10: 129,272,812 (GRCm39)	I44L	probably damaging	Het
Osbpl8	A	T	10: 111,108,929 (GRCm39)	K404*	probably null	Het
Pcdhga2	A	G	18: 37,803,958 (GRCm39)	N601D	probably damaging	Het
Pld2	T	C	11: 70,445,501 (GRCm39)	Y638H	probably damaging	Het
Pramel27	A	G	4: 143,579,435 (GRCm39)	Y340C	probably damaging	Het
Prickle2	C	G	6: 92,435,596 (GRCm39)	V2L	possibly damaging	Het
Psmd6	G	A	14: 14,116,949 (GRCm38)	R125C	probably benign	Het
Rnaset2b	G	A	17: 7,259,093 (GRCm39)	V24I	probably benign	Het
Rusc2	A	T	4: 43,416,416 (GRCm39)	D574V	probably benign	Het
Scn8a	T	A	15: 100,837,996 (GRCm39)		probably null	Het
Sec11a	T	C	7: 80,572,879 (GRCm39)	E134G	probably benign	Het
Senp5	A	G	16: 31,808,702 (GRCm39)	V157A	probably damaging	Het
Shkbp1	C	T	7: 27,051,120 (GRCm39)		probably null	Het
Slc43a1	T	C	2: 84,690,128 (GRCm39)	L435P	probably damaging	Het
Spn	G	A	7: 126,735,895 (GRCm39)	P204L	possibly damaging	Het
Srr	T	A	11: 74,801,028 (GRCm39)	Q173L	probably damaging	Het
Star	C	G	8: 26,301,835 (GRCm39)	T222S	probably benign	Het
Timm22	T	A	11: 76,301,953 (GRCm39)	Y93N	probably damaging	Het
Tmc4	G	T	7: 3,678,458 (GRCm39)	Q58K	probably benign	Het
Tmem86b	C	T	7: 4,632,835 (GRCm39)	M1I	probably null	Het
Tmtc2	A	T	10: 105,205,831 (GRCm39)	I488N	probably damaging	Het
Tnxb	A	T	17: 34,913,362 (GRCm39)	Y1792F	probably damaging	Het
Tph1	T	A	7: 46,296,867 (GRCm39)	R443W	possibly damaging	Het
Ttyh1	T	A	7: 4,132,323 (GRCm39)	V253E	possibly damaging	Het
Usf3	A	G	16: 44,038,940 (GRCm39)	D1140G	probably benign	Het
Usp10	T	C	8: 120,668,055 (GRCm39)	S118P	probably benign	Het
Vmn2r63	C	T	7: 42,552,721 (GRCm39)	C845Y	probably benign	Het
Vmn2r72	G	T	7: 85,400,382 (GRCm39)	F222L	probably damaging	Het
Zfp654	G	A	16: 64,606,457 (GRCm39)	Q582*	probably null	Het
Zfp791	C	T	8: 85,846,279 (GRCm39)		probably benign	Het
Zfp879	T	A	11: 50,729,302 (GRCm39)	D32V	probably damaging	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
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
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'- CCACTATGGTGTGATAGGGC -3'
(R):5'- CCTCAGAGGCAGTGTTTTCAG -3'

Sequencing Primer
(F):5'- CACTATGGTGTGATAGGGCCGATG -3'
(R):5'- CAGTGTTTGTAAGGTCAGAGGG -3'

Posted On

2018-04-27