Mutagenetix > Incidental Mutation

Incidental Mutation 'R7100:Daxx'

550788

Institutional Source

Beutler Lab

Gene Symbol

Daxx

Ensembl Gene

ENSMUSG00000002307

Gene Name

Fas death domain-associated protein

Synonyms

MMRRC Submission

045192-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33909414-33915589 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33911442 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 144 (S144P)

Ref Sequence

ENSEMBL: ENSMUSP00000078390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053429] [ENSMUST00000079421] [ENSMUST00000170075] [ENSMUST00000172619] [ENSMUST00000172817] [ENSMUST00000173028] [ENSMUST00000173626] [ENSMUST00000174146] [ENSMUST00000174463] [ENSMUST00000174541]

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 damaging
Transcript: ENSMUST00000079421
AA Change: S144P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078390
Gene: ENSMUSG00000002307
AA Change: S144P

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 damaging
Transcript: ENSMUST00000170075
AA Change: S144P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128504
Gene: ENSMUSG00000002307
AA Change: S144P

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

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

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 damaging
Transcript: ENSMUST00000173626
AA Change: S144P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133303
Gene: ENSMUSG00000002307
AA Change: S144P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000174146
AA Change: S144P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134158
Gene: ENSMUSG00000002307
AA Change: S144P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000174541
AA Change: S144P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133552
Gene: ENSMUSG00000002307
AA Change: S144P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (54/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	G	2: 154,552,395	E89G	probably damaging	Het
Adgrv1	A	T	13: 81,270,897	V5993E	probably damaging	Het
Amdhd1	T	C	10: 93,537,074		probably null	Het
Amph	T	C	13: 19,149,841	*691Q	probably null	Het
Ankrd55	A	G	13: 112,356,110	K272E	probably benign	Het
Arhgef10l	C	T	4: 140,516,815	V838I	possibly damaging	Het
Arl2	C	A	19: 6,134,744	V160F	probably benign	Het
BC067074	T	A	13: 113,318,967	F516I		Het
Catsperb	T	C	12: 101,446,038	V128A	possibly damaging	Het
Cdk11b	T	A	4: 155,625,593	L17H	probably damaging	Het
Cpsf1	A	T	15: 76,596,114	N1391K	possibly damaging	Het
Cpxm2	C	T	7: 132,054,815	A573T	probably benign	Het
Dpp3	T	C	19: 4,918,041	D303G	probably damaging	Het
Fam126b	T	A	1: 58,534,494	T384S	possibly damaging	Het
Fam181a	T	A	12: 103,315,873	N12K	probably damaging	Het
Flg2	A	T	3: 93,203,711	R1015S	unknown	Het
Fstl5	A	G	3: 76,536,293	H315R	probably benign	Het
Fut4	A	G	9: 14,751,393	S202P	probably damaging	Het
Gm5114	T	C	7: 39,408,284	D637G	possibly damaging	Het
Gstcd	G	T	3: 133,084,943	T21K	probably benign	Het
Heca	C	T	10: 17,915,373	V312M	probably benign	Het
Herpud1	A	G	8: 94,390,847	R144G	probably damaging	Het
Hrasls5	T	A	19: 7,639,558	F313I	unknown	Het
Ino80	A	G	2: 119,374,513	S1511P	possibly damaging	Het
Irf2bp2	T	C	8: 126,591,733	T365A	probably benign	Het
Klk1	G	A	7: 44,229,424	G214E	probably damaging	Het
Lama3	A	T	18: 12,582,644	N1719I	possibly damaging	Het
Lmna	A	G	3: 88,484,990	I365T	probably damaging	Het
Lrp8	C	A	4: 107,802,450	A13E	possibly damaging	Het
Ly75	A	G	2: 60,306,434	L1483P	probably benign	Het
Mid1	A	G	X: 169,985,077	D407G	probably benign	Het
Mpl	G	T	4: 118,457,410	A21E		Het
Mus81	C	T	19: 5,484,211	G360S	probably damaging	Het
Nmt2	T	A	2: 3,312,913	S250T	probably benign	Het
Nr1d1	C	A	11: 98,771,334	R158L	probably damaging	Het
Pcgf6	G	A	19: 47,050,714	P36S	unknown	Het
Pcnx2	G	A	8: 125,759,114	A1915V	probably benign	Het
Peak1	A	G	9: 56,259,393	V417A	probably damaging	Het
Phf20l1	A	G	15: 66,604,840	N262S	probably benign	Het
Ppp2r5d	A	G	17: 46,685,682	V355A	probably benign	Het
Rasa3	T	C	8: 13,586,897	T395A	probably benign	Het
Rims1	T	A	1: 22,346,473	I432F	probably benign	Het
Rnf123	C	T	9: 108,056,639	C1080Y	probably damaging	Het
Serpina3g	T	C	12: 104,238,311		probably benign	Het
Shank2	T	A	7: 144,411,164	D836E	possibly damaging	Het
Slc24a5	A	C	2: 125,080,671	S118R	probably damaging	Het
Smg1	G	T	7: 118,184,520	H1048N	unknown	Het
Specc1l	T	G	10: 75,245,495	S242A	probably benign	Het
Tagap1	A	T	17: 6,956,712	L195Q	possibly damaging	Het
Tmem57	T	C	4: 134,806,660	D550G	probably damaging	Het
Trpc3	C	A	3: 36,650,067	E580D	probably benign	Het
Ttn	A	T	2: 76,710,822	V33940E	probably benign	Het
Upp2	G	T	2: 58,791,805	R318L	probably benign	Het
Vezt	T	A	10: 93,996,933	E205D	probably benign	Het
Vmn1r177	A	G	7: 23,866,110	F114L	probably benign	Het
Vmn2r53	C	A	7: 12,581,586	E769*	probably null	Het
Vnn3	T	C	10: 23,865,942	Y382H	probably damaging	Het

Other mutations in Daxx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Daxx	APN	17	33911607	nonsense	probably null
IGL01066:Daxx	APN	17	33913893	missense	probably benign	0.43
IGL01622:Daxx	APN	17	33913480	missense	probably benign
IGL02245:Daxx	APN	17	33912377	splice site	probably benign
IGL02432:Daxx	APN	17	33912337	missense	probably benign	0.31
IGL02484:Daxx	APN	17	33912242	missense	probably damaging	1.00
IGL02992:Daxx	APN	17	33911748	missense	probably damaging	1.00
R0302:Daxx	UTSW	17	33913620	missense	probably damaging	1.00
R0356:Daxx	UTSW	17	33913893	missense	probably benign	0.43
R0437:Daxx	UTSW	17	33913624	missense	probably benign	0.00
R0635:Daxx	UTSW	17	33912644	missense	probably benign	0.00
R0932:Daxx	UTSW	17	33910661	missense	probably damaging	1.00
R1498:Daxx	UTSW	17	33912253	missense	probably damaging	1.00
R1785:Daxx	UTSW	17	33911842	missense	probably damaging	1.00
R1996:Daxx	UTSW	17	33913611	missense	possibly damaging	0.89
R2367:Daxx	UTSW	17	33911847	missense	probably benign	0.38
R4320:Daxx	UTSW	17	33911419	missense	probably damaging	1.00
R4321:Daxx	UTSW	17	33911406	missense	possibly damaging	0.94
R5055:Daxx	UTSW	17	33912160	missense	probably benign	0.01
R5546:Daxx	UTSW	17	33912641	small deletion	probably benign
R5547:Daxx	UTSW	17	33912641	small deletion	probably benign
R5547:Daxx	UTSW	17	33912659	small deletion	probably benign
R5591:Daxx	UTSW	17	33911688	missense	probably damaging	1.00
R6317:Daxx	UTSW	17	33911975	missense	probably damaging	1.00
R6362:Daxx	UTSW	17	33911364	missense	probably damaging	1.00
R6493:Daxx	UTSW	17	33912371	critical splice donor site	probably null
R7176:Daxx	UTSW	17	33913318	missense	unknown
R7310:Daxx	UTSW	17	33910461	missense	possibly damaging	0.70
R7418:Daxx	UTSW	17	33910605	missense	probably benign	0.05
R7476:Daxx	UTSW	17	33911281	missense	probably damaging	1.00
R7955:Daxx	UTSW	17	33912255	nonsense	probably null
R8369:Daxx	UTSW	17	33912616	missense	probably damaging	1.00
R8748:Daxx	UTSW	17	33912164	missense	probably damaging	1.00
R9447:Daxx	UTSW	17	33913273	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTCCTTGAACTGTGTAAGACGG -3'
(R):5'- GAATCTCGGCTACGTACAGTGC -3'

Sequencing Primer
(F):5'- CTTGAACTGTGTAAGACGGAGACATC -3'
(R):5'- TACGTACAGTGCCAGCAGCTG -3'

Posted On

2019-05-15