Mutagenetix > Incidental Mutation

Incidental Mutation 'R1996:Daxx'

225796

Institutional Source

Beutler Lab

Gene Symbol

Daxx

Ensembl Gene

ENSMUSG00000002307

Gene Name

Fas death domain-associated protein

Synonyms

MMRRC Submission

040006-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1996 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34128388-34134564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34132585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 572 (T572A)

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: T610A

SMART Domains

Protein: ENSMUSP00000078390
Gene: ENSMUSG00000002307
AA Change: T610A

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: T610A

SMART Domains

Protein: ENSMUSP00000128504
Gene: ENSMUSG00000002307
AA Change: T610A

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

possibly damaging
Transcript: ENSMUST00000174541
AA Change: T572A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133552
Gene: ENSMUSG00000002307
AA Change: T572A

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

Predicted Effect

unknown
Transcript: ENSMUST00000174146
AA Change: T610A

SMART Domains

Protein: ENSMUSP00000134158
Gene: ENSMUSG00000002307
AA Change: T610A

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: 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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

99% (84/85)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,646,556 (GRCm39)	W1069R	probably damaging	Het
Aaas	C	T	15: 102,248,494 (GRCm39)	V241I	probably benign	Het
Abca3	A	G	17: 24,606,506 (GRCm39)	E787G	probably damaging	Het
Abi3bp	A	T	16: 56,491,720 (GRCm39)	E582D	possibly damaging	Het
Adam21	A	G	12: 81,606,376 (GRCm39)	M462T	possibly damaging	Het
Alox12e	T	C	11: 70,207,034 (GRCm39)	T591A	probably benign	Het
Ankmy2	T	C	12: 36,243,796 (GRCm39)	M337T	probably benign	Het
Antxrl	A	G	14: 33,797,786 (GRCm39)	N587S	probably benign	Het
Apol6	T	A	15: 76,934,956 (GRCm39)	I75N	probably benign	Het
Atad2b	A	T	12: 5,040,883 (GRCm39)	H184L	probably benign	Het
Atf6b	A	T	17: 34,871,961 (GRCm39)		probably null	Het
B3gnt4	G	A	5: 123,649,402 (GRCm39)	V256I	probably damaging	Het
BC034090	C	T	1: 155,097,340 (GRCm39)		probably benign	Het
Bend4	C	A	5: 67,557,527 (GRCm39)	V430F	probably damaging	Het
Camkv	A	G	9: 107,824,320 (GRCm39)	D244G	probably damaging	Het
Caps2	T	A	10: 112,039,908 (GRCm39)	L450Q	probably damaging	Het
Ccr1	T	A	9: 123,763,551 (GRCm39)	K326N	probably benign	Het
Cep135	T	C	5: 76,780,113 (GRCm39)	I815T	probably benign	Het
Chchd4	A	G	6: 91,442,116 (GRCm39)	Y101H	probably damaging	Het
Copb1	G	C	7: 113,831,438 (GRCm39)	A570G	probably benign	Het
Cpsf2	C	A	12: 101,964,867 (GRCm39)	T505K	probably benign	Het
Cwf19l2	A	G	9: 3,417,947 (GRCm39)	R136G	probably benign	Het
Etaa1	C	A	11: 17,902,671 (GRCm39)	D89Y	probably damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fchsd2	T	C	7: 100,927,660 (GRCm39)	F701L	probably benign	Het
Fstl5	A	T	3: 76,615,141 (GRCm39)	H734L	probably benign	Het
Gabbr1	T	A	17: 37,380,112 (GRCm39)	W584R	probably damaging	Het
Galc	T	C	12: 98,218,285 (GRCm39)	D189G	probably damaging	Het
Gm9979	T	C	13: 40,859,228 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 136,021,209 (GRCm39)	S31G	possibly damaging	Het
Gtf2ird1	T	C	5: 134,405,740 (GRCm39)		probably benign	Het
Hoxc4	T	C	15: 102,944,183 (GRCm39)	I187T	probably damaging	Het
Hsd3b6	A	T	3: 98,713,597 (GRCm39)	I234N	probably damaging	Het
Ifit3b	T	C	19: 34,588,877 (GRCm39)	C18R	probably damaging	Het
Igdcc4	T	A	9: 65,029,101 (GRCm39)	V246E	probably damaging	Het
Il1rap	A	T	16: 26,541,243 (GRCm39)	T495S	probably benign	Het
Kctd19	T	C	8: 106,121,932 (GRCm39)	E205G	probably null	Het
Kif21a	A	T	15: 90,878,574 (GRCm39)	C235*	probably null	Het
Krt16	A	T	11: 100,139,614 (GRCm39)	S35T	unknown	Het
Lamc2	T	C	1: 153,030,216 (GRCm39)	D142G	possibly damaging	Het
Larp4	G	T	15: 99,882,844 (GRCm39)	W22L	probably damaging	Het
Ldlrad1	C	T	4: 107,072,158 (GRCm39)	R127*	probably null	Het
Mamdc2	G	A	19: 23,341,289 (GRCm39)	Q229*	probably null	Het
Mbtd1	CT	CTT	11: 93,823,222 (GRCm39)		probably null	Het
Msln	T	A	17: 25,973,193 (GRCm39)	M1L	possibly damaging	Het
Mtch2	T	C	2: 90,677,665 (GRCm39)	V8A	possibly damaging	Het
Nav3	A	T	10: 109,689,262 (GRCm39)	N338K	probably damaging	Het
Or10x4	T	C	1: 174,218,983 (GRCm39)	M116T	probably damaging	Het
Or51a39	A	G	7: 102,362,999 (GRCm39)	L207P	probably damaging	Het
Or6c5	C	A	10: 129,074,298 (GRCm39)	N93K	possibly damaging	Het
Otof	A	G	5: 30,578,381 (GRCm39)	V89A	probably benign	Het
Phka2	T	C	X: 159,324,411 (GRCm39)	I255T	probably benign	Het
Pias2	T	C	18: 77,216,759 (GRCm39)		probably null	Het
Pja2	T	A	17: 64,594,639 (GRCm39)		probably null	Het
Plxnb2	C	T	15: 89,042,971 (GRCm39)	V1473I	probably benign	Het
Pnpt1	T	A	11: 29,091,679 (GRCm39)	D363E	probably benign	Het
Prdm5	A	G	6: 65,913,072 (GRCm39)	Y207C	probably damaging	Het
Rexo5	T	A	7: 119,423,080 (GRCm39)	V304E	probably damaging	Het
Robo1	G	T	16: 72,767,067 (GRCm39)	R413L	probably benign	Het
Rsf1	G	A	7: 97,313,839 (GRCm39)	E864K	probably damaging	Het
Scap	C	T	9: 110,202,039 (GRCm39)		probably benign	Het
Scn8a	T	A	15: 100,922,260 (GRCm39)	M1311K	probably damaging	Het
Slc28a2	A	T	2: 122,286,043 (GRCm39)	I460F	probably damaging	Het
Smco1	A	G	16: 32,092,730 (GRCm39)	R134G	probably benign	Het
Spopfm1	A	T	3: 94,173,018 (GRCm39)	M9L	probably benign	Het
Sspo	A	G	6: 48,452,424 (GRCm39)	E2651G	possibly damaging	Het
Stab2	T	C	10: 86,838,895 (GRCm39)	N57S	probably damaging	Het
Tenm3	C	A	8: 48,681,703 (GRCm39)	Q2642H	probably damaging	Het
Thsd7b	G	T	1: 129,686,188 (GRCm39)	E577*	probably null	Het
Tlr3	A	G	8: 45,850,734 (GRCm39)	V721A	probably benign	Het
Tnik	A	G	3: 28,719,829 (GRCm39)	I1226V	probably damaging	Het
Traf3	A	G	12: 111,227,095 (GRCm39)	K328E	probably benign	Het
Tyw1	T	A	5: 130,291,652 (GRCm39)		probably benign	Het
Vmn1r213	T	G	13: 23,196,473 (GRCm39)	V352G	probably benign	Het
Vmn2r111	T	C	17: 22,767,062 (GRCm39)	I812V	probably benign	Het
Vmn2r26	A	G	6: 124,038,144 (GRCm39)	N573S	probably damaging	Het
Vmn2r45	G	A	7: 8,475,024 (GRCm39)	T668I	probably damaging	Het
Zbtb20	T	A	16: 43,430,443 (GRCm39)	V318E	probably damaging	Het
Zc2hc1c	A	G	12: 85,343,434 (GRCm39)	R524G	probably benign	Het
Zc3h18	C	G	8: 123,134,126 (GRCm39)		probably benign	Het
Zfp618	T	C	4: 63,049,452 (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
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'- AAGGAATTCAGAGCCTGCAG -3'
(R):5'- ATCAGGCTCCCTTCAGAGAGTC -3'

Sequencing Primer
(F):5'- AGCACTGACGCTGAGAGC -3'
(R):5'- AGAGAGTCCTGCCTCCTTG -3'

Posted On

2014-08-25