Mutagenetix > Incidental Mutation

Incidental Mutation 'R5055:Daxx'

459853

Institutional Source

Beutler Lab

Gene Symbol

Daxx

Ensembl Gene

ENSMUSG00000002307

Gene Name

Fas death domain-associated protein

Synonyms

MMRRC Submission

042645-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34128388-34134564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34131134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 354 (V354F)

Ref Sequence

ENSEMBL: ENSMUSP00000133552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053429] [ENSMUST00000079421] [ENSMUST00000170075] [ENSMUST00000172619] [ENSMUST00000173028] [ENSMUST00000174146] [ENSMUST00000174541] [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: V354F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000078390
Gene: ENSMUSG00000002307
AA Change: V354F

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: V354F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000128504
Gene: ENSMUSG00000002307
AA Change: V354F

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: ENSMUST00000174146
AA Change: V354F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000134158
Gene: ENSMUSG00000002307
AA Change: V354F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174541
AA Change: V354F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000133552
Gene: ENSMUSG00000002307
AA Change: V354F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173279

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

0.1796

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

98% (84/86)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	G	A	11: 46,013,996 (GRCm39)	V329I	probably damaging	Het
Adgrl3	C	A	5: 81,794,398 (GRCm39)	A541E	possibly damaging	Het
Agbl1	A	T	7: 76,063,325 (GRCm39)	I263F	probably damaging	Het
Ash1l	T	C	3: 88,930,519 (GRCm39)		probably null	Het
Bccip	A	G	7: 133,316,652 (GRCm39)	T91A	probably benign	Het
Bnc1	A	T	7: 81,624,163 (GRCm39)	F355I	probably damaging	Het
Bpifa2	A	T	2: 153,855,630 (GRCm39)	D185V	probably damaging	Het
Capn8	T	A	1: 182,399,526 (GRCm39)	V89D	probably damaging	Het
Cfap46	A	T	7: 139,241,106 (GRCm39)	M421K	probably damaging	Het
Chd2	A	T	7: 73,130,256 (GRCm39)	L800M	probably damaging	Het
Chd4	A	G	6: 125,077,949 (GRCm39)	D137G	possibly damaging	Het
Crtap	A	G	9: 114,219,208 (GRCm39)	Y154H	probably benign	Het
Ctdp1	T	A	18: 80,499,303 (GRCm39)	Q213L	probably damaging	Het
Cts6	T	C	13: 61,344,164 (GRCm39)	Y296C	probably damaging	Het
Dnah2	A	G	11: 69,411,599 (GRCm39)	I341T	possibly damaging	Het
Epha2	A	G	4: 141,036,380 (GRCm39)	D272G	probably benign	Het
Etfa	A	G	9: 55,407,417 (GRCm39)	V24A	probably damaging	Het
Fbxl7	C	A	15: 26,553,022 (GRCm39)	G82W	probably damaging	Het
Fcamr	G	A	1: 130,739,174 (GRCm39)	C158Y	probably damaging	Het
Fyb1	A	C	15: 6,614,630 (GRCm39)		probably benign	Het
Gars1	G	A	6: 55,045,077 (GRCm39)	R454H	probably damaging	Het
Ghsr	T	C	3: 27,426,421 (GRCm39)	V159A	probably benign	Het
Glp1r	A	T	17: 31,137,861 (GRCm39)	Q97H	probably benign	Het
Gm27047	T	C	6: 130,606,909 (GRCm39)		noncoding transcript	Het
Igkv3-3	A	C	6: 70,664,223 (GRCm39)	I22L	probably benign	Het
Inpp5b	G	T	4: 124,636,824 (GRCm39)		probably null	Het
Ipo9	C	A	1: 135,330,097 (GRCm39)	E448*	probably null	Het
Itgb2l	A	T	16: 96,229,003 (GRCm39)	I400N	probably damaging	Het
Kat6b	T	A	14: 21,567,062 (GRCm39)	H40Q	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kcnq2	G	T	2: 180,728,554 (GRCm39)		probably benign	Het
Klf7	T	C	1: 64,118,439 (GRCm39)	T53A	probably benign	Het
Kmt2a	A	G	9: 44,729,649 (GRCm39)		probably benign	Het
Lrp10	C	T	14: 54,705,802 (GRCm39)	R331C	probably benign	Het
Map4k5	A	T	12: 69,878,332 (GRCm39)	D289E	probably benign	Het
Mfsd4b2	A	T	10: 39,799,773 (GRCm39)	M43K	possibly damaging	Het
Msr1	T	G	8: 40,076,997 (GRCm39)	R138S	possibly damaging	Het
Myh7b	G	C	2: 155,474,293 (GRCm39)	R1669S	possibly damaging	Het
Myh9	G	A	15: 77,648,723 (GRCm39)	A1711V	probably benign	Het
Myo18b	A	G	5: 113,023,083 (GRCm39)		probably benign	Het
Nampt	A	T	12: 32,883,120 (GRCm39)	N102Y	possibly damaging	Het
Nell2	T	C	15: 95,371,460 (GRCm39)	I92V	probably benign	Het
Nes	A	G	3: 87,884,521 (GRCm39)	N883D	probably benign	Het
Neurl3	T	A	1: 36,312,463 (GRCm39)		probably benign	Het
Ocln	T	A	13: 100,675,930 (GRCm39)	T188S	probably benign	Het
Or2ag20	T	A	7: 106,464,937 (GRCm39)	M250K	probably damaging	Het
Or5m10	T	C	2: 85,717,585 (GRCm39)	F147S	probably benign	Het
Parp14	T	A	16: 35,664,733 (GRCm39)	Q1305L	probably benign	Het
Pde3a	C	T	6: 141,433,682 (GRCm39)	Q855*	probably null	Het
Pde4b	T	C	4: 102,052,311 (GRCm39)		probably benign	Het
Pdk2	T	C	11: 94,930,242 (GRCm39)	M65V	probably benign	Het
Phf21a	T	C	2: 92,182,201 (GRCm39)	S377P	probably damaging	Het
Plcb2	T	A	2: 118,548,703 (GRCm39)	T408S	probably benign	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Ppp6r2	A	G	15: 89,167,152 (GRCm39)	D789G	probably benign	Het
Prdm16	T	C	4: 154,419,719 (GRCm39)	M897V	possibly damaging	Het
Prss57	A	G	10: 79,620,178 (GRCm39)		probably null	Het
Psd	G	T	19: 46,310,907 (GRCm39)	L381I	probably benign	Het
Ptprq	A	T	10: 107,370,540 (GRCm39)	D2050E	probably benign	Het
Rfc1	G	T	5: 65,423,505 (GRCm39)	N1034K	probably damaging	Het
Ryr3	C	T	2: 112,661,504 (GRCm39)	G1829S	probably benign	Het
Scaper	T	C	9: 55,767,003 (GRCm39)		probably null	Het
Scn5a	A	G	9: 119,351,632 (GRCm39)	I783T	probably damaging	Het
Slc28a1	A	G	7: 80,818,796 (GRCm39)	N583S	possibly damaging	Het
Slc35e3	C	T	10: 117,580,884 (GRCm39)	G140D	probably damaging	Het
Slc6a9	G	A	4: 117,725,347 (GRCm39)		probably null	Het
Sptlc1	A	G	13: 53,496,218 (GRCm39)	S376P	probably benign	Het
Sspo	G	A	6: 48,441,729 (GRCm39)	C1913Y	probably damaging	Het
Taar7b	A	T	10: 23,876,845 (GRCm39)	I337F	possibly damaging	Het
Tdpoz2	T	A	3: 93,559,235 (GRCm39)	I246F	probably damaging	Het
Trpa1	C	T	1: 14,946,183 (GRCm39)	V983M	probably damaging	Het
Trpm5	A	T	7: 142,626,521 (GRCm39)	M1112K	probably benign	Het
Tsbp1	G	A	17: 34,667,770 (GRCm39)	C154Y	possibly damaging	Het
Uso1	A	T	5: 92,340,594 (GRCm39)	K670I	probably benign	Het
Washc4	A	G	10: 83,392,771 (GRCm39)	D257G	probably damaging	Het
Wdr41	T	A	13: 95,151,725 (GRCm39)		probably null	Het
Zbtb17	A	G	4: 141,193,860 (GRCm39)	Q668R	possibly 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
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'- TTCCCAGACAGCAGCTTCAG -3'
(R):5'- CAGATTCCGAGGAGGCTTTG -3'

Sequencing Primer
(F):5'- TGGCTCAGGATGCCTTCC -3'
(R):5'- GGGGGTCTGAAGGTTGGG -3'

Posted On

2017-02-27