Mutagenetix > Incidental Mutation

Incidental Mutation 'R3703:Dxo'

475904

Institutional Source

Beutler Lab

Gene Symbol

Dxo

Ensembl Gene

ENSMUSG00000040482

Gene Name

decapping exoribonuclease

Synonyms

Dom3z

MMRRC Submission

040696-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R3703 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35055998-35058162 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 35057745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137234 (fasta)

Gene Model

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

SMART Domains

Protein: ENSMUSP00000047018
Gene: ENSMUSG00000040482

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

noncoding transcript
Transcript: ENSMUST00000172803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174363

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 benign
Transcript: ENSMUST00000174092

SMART Domains

Protein: ENSMUSP00000133587
Gene: ENSMUSG00000040482

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

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: 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: 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: ENSMUST00000173063

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: 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

noncoding transcript
Transcript: ENSMUST00000183497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174887

Predicted Effect

probably benign
Transcript: ENSMUST00000180043

SMART Domains

Protein: ENSMUSP00000137234
Gene: ENSMUSG00000040482

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

100% (50/50)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	C	T	8: 77,985,685 (GRCm39)		probably null	Het
Asap3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGAGGAGGA	4: 135,968,552 (GRCm39)		probably benign	Het
Bcap29	T	C	12: 31,667,151 (GRCm39)	H170R	probably benign	Het
Bltp1	T	A	3: 37,041,730 (GRCm39)	C2703S	probably damaging	Het
Brf1	T	C	12: 112,932,991 (GRCm39)		probably null	Het
Btnl7-ps	T	A	17: 34,752,941 (GRCm39)		noncoding transcript	Het
Cdh12	C	A	15: 21,583,912 (GRCm39)	T584K	probably damaging	Het
Col13a1	A	G	10: 61,703,608 (GRCm39)		probably null	Het
Col25a1	A	G	3: 130,343,682 (GRCm39)		probably null	Het
Csrp2	G	A	10: 110,773,735 (GRCm39)		probably benign	Het
Ctla2a	T	A	13: 61,083,821 (GRCm39)	D37V	probably damaging	Het
Cubn	T	A	2: 13,355,754 (GRCm39)	H1826L	probably damaging	Het
Dnajc19	A	G	3: 34,134,378 (GRCm39)		probably null	Het
Edil3	A	T	13: 89,325,417 (GRCm39)	M269L	probably benign	Het
Fbxl7	C	A	15: 26,543,841 (GRCm39)	G269C	probably damaging	Het
Gpnmb	T	A	6: 49,028,799 (GRCm39)	I439N	possibly damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Gtpbp3	T	G	8: 71,944,779 (GRCm39)	S345A	probably benign	Het
Hnrnpul2	A	G	19: 8,801,773 (GRCm39)	E327G	probably damaging	Het
Ifi207	A	T	1: 173,555,029 (GRCm39)	Y884*	probably null	Het
Ifi47	T	C	11: 48,986,352 (GRCm39)	S40P	probably benign	Het
Kcnq3	A	G	15: 65,893,588 (GRCm39)		probably null	Het
Kifc3	G	A	8: 95,830,656 (GRCm39)		probably benign	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Mug1	C	T	6: 121,865,515 (GRCm39)		probably benign	Het
Myh2	A	G	11: 67,080,427 (GRCm39)	I1214V	probably benign	Het
Naa30	A	G	14: 49,425,059 (GRCm39)	N337S	probably benign	Het
Nap1l3	A	T	X: 121,305,221 (GRCm39)	I499N	possibly damaging	Het
Nfat5	T	A	8: 108,078,053 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,702 (GRCm39)		probably benign	Het
Nt5c3	A	G	6: 56,860,652 (GRCm39)		probably benign	Het
Pklr	C	T	3: 89,050,008 (GRCm39)	R328C	probably damaging	Het
Prrc2c	G	A	1: 162,538,260 (GRCm39)	R457C	probably damaging	Het
Rab1a	T	G	11: 20,174,506 (GRCm39)		probably benign	Het
Rasa3	A	T	8: 13,638,972 (GRCm39)	D278E	probably benign	Het
Rdh8	C	T	9: 20,734,629 (GRCm39)	P99S	probably damaging	Het
Snx9	T	A	17: 5,978,475 (GRCm39)		probably null	Het
Spns3	C	T	11: 72,390,356 (GRCm39)		probably benign	Het
Sympk	A	G	7: 18,774,486 (GRCm39)	Y421C	probably damaging	Het
Tas1r2	G	A	4: 139,394,729 (GRCm39)	C495Y	probably damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Tmprss15	T	C	16: 78,851,030 (GRCm39)		probably null	Het
Tox3	G	T	8: 90,975,533 (GRCm39)	T366K	possibly damaging	Het
Trdmt1	T	A	2: 13,526,108 (GRCm39)	Q170L	probably benign	Het
Ttn	A	T	2: 76,565,752 (GRCm39)	V28200D	probably damaging	Het
Zfp616	G	A	11: 73,974,145 (GRCm39)	W138*	probably null	Het
Zfr2	T	G	10: 81,081,913 (GRCm39)	V493G	probably benign	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
R4776:Dxo	UTSW	17	35,057,974 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2017-05-11