Mutagenetix > Incidental Mutation

Incidental Mutation 'R4776:Dxo'

367977

Institutional Source

Beutler Lab

Gene Symbol

Dxo

Ensembl Gene

ENSMUSG00000040482

Gene Name

decapping exoribonuclease

Synonyms

Dom3z

MMRRC Submission

042413-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R4776 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35055998-35058162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35057974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 352 (L352P)

Ref Sequence

ENSEMBL: ENSMUSP00000137234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046022] [ENSMUST00000046244] [ENSMUST00000077477] [ENSMUST00000159333] [ENSMUST00000161885] [ENSMUST00000173768] [ENSMUST00000174092] [ENSMUST00000173415] [ENSMUST00000173995] [ENSMUST00000172612] [ENSMUST00000173063] [ENSMUST00000173874] [ENSMUST00000180043]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000046022

SMART Domains

Protein: ENSMUSP00000036265
Gene: ENSMUSG00000040356

Domain	Start	End	E-Value	Type
low complexity region	7	22	N/A	INTRINSIC
low complexity region	171	176	N/A	INTRINSIC
low complexity region	208	237	N/A	INTRINSIC
low complexity region	269	279	N/A	INTRINSIC
DEXDc	304	487	3.61e-28	SMART
low complexity region	583	592	N/A	INTRINSIC
HELICc	619	705	8.63e-17	SMART
Pfam:rRNA_proc-arch	760	1044	9.7e-39	PFAM
DSHCT	1067	1243	7.67e-77	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000046244
AA Change: L352P

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

SMART Domains

Protein: ENSMUSP00000047018
Gene: ENSMUSG00000040482
AA Change: L352P

Domain	Start	End	E-Value	Type
low complexity region	168	184	N/A	INTRINSIC
Pfam:RAI1	235	303	2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000077477

SMART Domains

Protein: ENSMUSP00000076686
Gene: ENSMUSG00000061207

Domain	Start	End	E-Value	Type
Pfam:Stk19	37	251	1e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159333

SMART Domains

Protein: ENSMUSP00000125311
Gene: ENSMUSG00000061207

Domain	Start	End	E-Value	Type
Pfam:Stk19	1	129	3.2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161238

Predicted Effect

probably benign
Transcript: ENSMUST00000161885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173768

SMART Domains

Protein: ENSMUSP00000134052
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
Pfam:RAI1	1	33	5.6e-15	PFAM
low complexity region	54	64	N/A	INTRINSIC
low complexity region	73	88	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000174092
AA Change: L200P

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

SMART Domains

Protein: ENSMUSP00000133587
Gene: ENSMUSG00000040482
AA Change: L200P

Domain	Start	End	E-Value	Type
Pfam:RAI1	110	151	5.3e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172803

Predicted Effect

probably benign
Transcript: ENSMUST00000174569

SMART Domains

Protein: ENSMUSP00000133448
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
Pfam:RAI1	15	65	1.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173415

SMART Domains

Protein: ENSMUSP00000134209
Gene: ENSMUSG00000040356

Domain	Start	End	E-Value	Type
PDB:4A4Z\|A	10	81	8e-14	PDB
Blast:DEXDc	19	76	2e-29	BLAST
Blast:DEXDc	136	242	9e-28	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173995

SMART Domains

Protein: ENSMUSP00000134583
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
PDB:3FQJ\|A	1	144	5e-99	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000172612

SMART Domains

Protein: ENSMUSP00000133376
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
Pfam:RAI1	5	73	1.6e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174684

SMART Domains

Protein: ENSMUSP00000134653
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
PDB:3FQJ\|A	2	48	1e-11	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000173063

Predicted Effect

probably benign
Transcript: ENSMUST00000173874

SMART Domains

Protein: ENSMUSP00000134332
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
low complexity region	168	184	N/A	INTRINSIC
Pfam:RAI1	235	303	4.2e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000180043
AA Change: L352P

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

SMART Domains

Protein: ENSMUSP00000137234
Gene: ENSMUSG00000040482
AA Change: L352P

Domain	Start	End	E-Value	Type
low complexity region	168	184	N/A	INTRINSIC
Pfam:RAI1	235	302	2e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183497

Meta Mutation Damage Score

0.7888

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (94/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. The function of its protein product is unknown, but its ubiquitous expression and conservation in both simple and complex eukaryotes suggests that this may be a housekeeping gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	T	10: 76,293,346 (GRCm39)	M156L	probably benign	Het
4930470P17Rik	C	T	2: 170,421,644 (GRCm39)	A79T	unknown	Het
4930522L14Rik	A	G	5: 109,884,739 (GRCm39)	I373T	probably benign	Het
Amotl1	G	A	9: 14,504,669 (GRCm39)	Q217*	probably null	Het
Ankrd28	A	T	14: 31,454,011 (GRCm39)	C254S	probably damaging	Het
Ap2a1	A	G	7: 44,550,970 (GRCm39)		probably benign	Het
Arfgef3	A	T	10: 18,529,995 (GRCm39)	S245T	probably benign	Het
Atp1b2	A	T	11: 69,492,387 (GRCm39)	D224E	probably damaging	Het
Bmal1	A	T	7: 112,884,244 (GRCm39)	K94I	probably damaging	Het
Boc	G	A	16: 44,308,084 (GRCm39)	R924W	probably damaging	Het
Btbd8	C	A	5: 107,658,317 (GRCm39)	A1117E	probably damaging	Het
Car14	C	T	3: 95,806,185 (GRCm39)	G292D	probably benign	Het
Cenpb	T	C	2: 131,020,103 (GRCm39)		probably benign	Het
Ces1b	A	T	8: 93,789,658 (GRCm39)	D423E	possibly damaging	Het
Cfap54	T	A	10: 92,808,556 (GRCm39)	N1373I	possibly damaging	Het
Chrdl2	T	C	7: 99,655,748 (GRCm39)		probably benign	Het
Cic	T	G	7: 24,982,308 (GRCm39)	S12A	possibly damaging	Het
Csmd2	A	T	4: 128,336,685 (GRCm39)	Q1421L	probably benign	Het
D630039A03Rik	T	C	4: 57,910,452 (GRCm39)	H120R	possibly damaging	Het
Dicer1	T	A	12: 104,658,705 (GRCm39)	D1779V	probably damaging	Het
Dock9	G	T	14: 121,847,509 (GRCm39)	H1016N	possibly damaging	Het
Eif2b5	T	A	16: 20,318,983 (GRCm39)	F78I	probably damaging	Het
Eri2	A	G	7: 119,384,169 (GRCm39)		probably benign	Het
Fbxw7	T	G	3: 84,832,996 (GRCm39)	L13V	possibly damaging	Het
Fgf7	T	A	2: 125,877,703 (GRCm39)	C23*	probably null	Het
Fubp1	T	A	3: 151,927,705 (GRCm39)		probably null	Het
Gm2663	A	T	6: 40,972,887 (GRCm39)	I240N	probably damaging	Het
Gnb1l	C	T	16: 18,366,846 (GRCm39)	Q140*	probably null	Het
Gnptab	G	A	10: 88,272,390 (GRCm39)	R1010Q	probably damaging	Het
Gtf2h1	G	A	7: 46,472,302 (GRCm39)	W544*	probably null	Het
Gucy2c	C	T	6: 136,699,512 (GRCm39)	E586K	probably damaging	Het
Hc	T	A	2: 34,929,746 (GRCm39)	E232V	probably benign	Het
Ifi207	T	A	1: 173,557,622 (GRCm39)	D372V	unknown	Het
Igkv8-28	A	T	6: 70,121,102 (GRCm39)	V15E	probably benign	Het
Il1rap	A	G	16: 26,511,549 (GRCm39)	S198G	possibly damaging	Het
Lct	A	G	1: 128,228,124 (GRCm39)	I1123T	probably damaging	Het
Lhcgr	T	C	17: 89,050,125 (GRCm39)	E467G	probably damaging	Het
Macf1	C	T	4: 123,369,808 (GRCm39)	R86K	probably benign	Het
Maml3	T	A	3: 51,763,953 (GRCm39)	Q337L	probably benign	Het
Marchf10	T	A	11: 105,280,863 (GRCm39)	D474V	probably benign	Het
Marchf2	G	T	17: 33,928,890 (GRCm39)	T2K	probably damaging	Het
Mast1	A	G	8: 85,663,822 (GRCm39)		probably null	Het
Med12l	T	C	3: 59,140,633 (GRCm39)	I868T	probably damaging	Het
Msrb1	T	C	17: 24,959,147 (GRCm39)	S100P	probably damaging	Het
Nlrp4c	T	C	7: 6,069,125 (GRCm39)	L342P	probably benign	Het
Nrxn3	T	A	12: 90,298,730 (GRCm39)	V417E	possibly damaging	Het
Ntng1	T	A	3: 109,842,029 (GRCm39)	D248V	probably damaging	Het
Oaz3	T	C	3: 94,342,305 (GRCm39)	Q117R	probably benign	Het
Or2a56	A	G	6: 42,932,455 (GRCm39)	I8V	probably benign	Het
Or4f58	A	G	2: 111,851,276 (GRCm39)	Y308H	probably benign	Het
Or52e2	A	G	7: 102,804,621 (GRCm39)	L111P	probably benign	Het
Osbpl3	A	C	6: 50,277,953 (GRCm39)	S767A	probably benign	Het
Pafah1b1	A	T	11: 74,576,697 (GRCm39)		probably benign	Het
Pard6b	A	G	2: 167,940,708 (GRCm39)	T232A	probably damaging	Het
Paxip1	A	T	5: 27,970,204 (GRCm39)	C596S	probably damaging	Het
Pnpla6	T	C	8: 3,573,818 (GRCm39)	V422A	probably benign	Het
Psmd6	A	T	14: 14,120,932 (GRCm38)		probably benign	Het
Relch	T	A	1: 105,647,260 (GRCm39)	Y683*	probably null	Het
Rock2	T	A	12: 17,027,741 (GRCm39)	C1353S	probably damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Sel1l	T	A	12: 91,780,667 (GRCm39)	H658L	probably damaging	Het
Sh3yl1	T	A	12: 30,990,313 (GRCm39)	L105Q	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sirt1	T	C	10: 63,171,501 (GRCm39)	K227E	probably benign	Het
Slc25a34	A	T	4: 141,350,899 (GRCm39)	F37I	possibly damaging	Het
Slc39a5	T	A	10: 128,232,918 (GRCm39)	I378F	probably damaging	Het
Smarcad1	A	T	6: 65,075,808 (GRCm39)	D731V	probably null	Het
Sox6	T	G	7: 115,140,905 (GRCm39)	K483N	probably damaging	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Srgap1	G	T	10: 121,628,256 (GRCm39)	D882E	probably benign	Het
Syne4	T	C	7: 30,016,258 (GRCm39)		probably benign	Het
Tasor2	A	G	13: 3,620,391 (GRCm39)	F2170S	probably damaging	Het
Tec	T	C	5: 72,926,119 (GRCm39)	Y289C	probably benign	Het
Tmem102	A	T	11: 69,695,628 (GRCm39)	Y115N	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trav17	T	A	14: 54,044,097 (GRCm39)	M1K	probably null	Het
Trdn	T	A	10: 33,275,078 (GRCm39)		probably null	Het
Trp53	A	T	11: 69,477,747 (GRCm39)	I8F	probably benign	Het
Ttn	T	A	2: 76,585,006 (GRCm39)	D22064V	probably damaging	Het
Ube3c	G	A	5: 29,837,836 (GRCm39)		probably null	Het
Ulk1	C	T	5: 110,936,813 (GRCm39)		probably null	Het
Upp1	T	C	11: 9,085,976 (GRCm39)	V271A	probably damaging	Het
Vmn2r4	T	C	3: 64,296,082 (GRCm39)	E901G	probably damaging	Het
Vmn2r96	G	A	17: 18,817,770 (GRCm39)	G449D	probably damaging	Het
Vps37b	T	C	5: 124,144,675 (GRCm39)	K165E	probably damaging	Het
Vwf	A	T	6: 125,543,268 (GRCm39)	I185F	possibly damaging	Het
Wasf2	A	G	4: 132,912,315 (GRCm39)	T56A	probably benign	Het
Zdhhc23	C	G	16: 43,793,952 (GRCm39)	D241H	possibly damaging	Het
Zfp276	T	C	8: 123,981,623 (GRCm39)	S57P	probably benign	Het
Zxdc	A	G	6: 90,347,500 (GRCm39)	H287R	probably damaging	Het

Other mutations in Dxo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01571:Dxo	APN	17	35,058,016 (GRCm39)	missense	probably damaging	1.00
R0030:Dxo	UTSW	17	35,056,914 (GRCm39)	missense	probably damaging	1.00
R1573:Dxo	UTSW	17	35,057,270 (GRCm39)	missense	probably damaging	1.00
R2182:Dxo	UTSW	17	35,057,868 (GRCm39)	missense	probably benign	0.22
R2294:Dxo	UTSW	17	35,057,962 (GRCm39)	critical splice acceptor site	probably null
R2512:Dxo	UTSW	17	35,056,718 (GRCm39)	missense	probably benign	0.01
R3410:Dxo	UTSW	17	35,057,825 (GRCm39)	missense	probably damaging	1.00
R3703:Dxo	UTSW	17	35,057,745 (GRCm39)	intron	probably benign
R6319:Dxo	UTSW	17	35,057,367 (GRCm39)	missense	probably damaging	1.00
R7570:Dxo	UTSW	17	35,056,616 (GRCm39)	missense	probably benign
R8443:Dxo	UTSW	17	35,058,099 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGACCGAGAAGGCTGGAATC -3'
(R):5'- AGGTGACTCCATTCAGACACAG -3'

Sequencing Primer
(F):5'- GGAATCCCTCTGTGTGCATGAAC -3'
(R):5'- AGAAACACGCCTTTATTATCTGCACG -3'

Posted On

2015-12-29