Mutagenetix > Incidental Mutation

Incidental Mutation 'R0030:Dxo'

64533

Institutional Source

Beutler Lab

Gene Symbol

Dxo

Ensembl Gene

ENSMUSG00000040482

Gene Name

decapping exoribonuclease

Synonyms

Dom3z

MMRRC Submission

038324-MU

Accession Numbers

Essential gene?

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

Stock #

R0030 (G1)

Quality Score

127

Status

Not validated

Chromosome

Chromosomal Location

35055998-35058162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35056914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 132 (R132G)

Ref Sequence

ENSEMBL: ENSMUSP00000137234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046022] [ENSMUST00000046244] [ENSMUST00000077477] [ENSMUST00000159333] [ENSMUST00000161885] [ENSMUST00000173995] [ENSMUST00000173874] [ENSMUST00000172612] [ENSMUST00000173768] [ENSMUST00000173415] [ENSMUST00000173063] [ENSMUST00000174092] [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: R132G

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

SMART Domains

Protein: ENSMUSP00000047018
Gene: ENSMUSG00000040482
AA Change: R132G

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

probably damaging
Transcript: ENSMUST00000173995
AA Change: R132G

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

SMART Domains

Protein: ENSMUSP00000134583
Gene: ENSMUSG00000040482
AA Change: R132G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173874
AA Change: R132G

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

SMART Domains

Protein: ENSMUSP00000134332
Gene: ENSMUSG00000040482
AA Change: R132G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174226

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

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 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: ENSMUST00000173063

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 damaging
Transcript: ENSMUST00000180043
AA Change: R132G

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

SMART Domains

Protein: ENSMUSP00000137234
Gene: ENSMUSG00000040482
AA Change: R132G

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.6%

Validation Efficiency

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	T	A	1: 89,816,466 (GRCm39)	Y755*	probably null	Het
Ahctf1	G	A	1: 179,580,001 (GRCm39)	T2067M	probably damaging	Het
Ank1	C	A	8: 23,583,909 (GRCm39)	D337E	probably damaging	Het
Ankrd65	A	C	4: 155,875,942 (GRCm39)	R72S	probably damaging	Het
Cacna1s	T	C	1: 136,022,727 (GRCm39)		probably null	Het
Cyp4f40	T	C	17: 32,894,947 (GRCm39)	S462P	probably damaging	Het
Eps15l1	A	G	8: 73,126,894 (GRCm39)	S646P	probably benign	Het
Foxi2	A	G	7: 135,013,345 (GRCm39)	T192A	probably damaging	Het
Fry	T	A	5: 150,296,034 (GRCm39)	C480*	probably null	Het
Gak	C	T	5: 108,761,413 (GRCm39)	W206*	probably null	Het
Ggt7	G	T	2: 155,348,408 (GRCm39)	D5E	probably benign	Het
Hectd4	G	T	5: 121,400,651 (GRCm39)	G339*	probably null	Het
Ikzf3	T	C	11: 98,358,438 (GRCm39)	T300A	probably benign	Het
Med12l	T	G	3: 59,156,076 (GRCm39)	L1198R	probably damaging	Het
Odf4	T	A	11: 68,817,767 (GRCm39)	E9D	probably benign	Het
Or2t26	T	A	11: 49,039,867 (GRCm39)	M261K	possibly damaging	Het
Pax1	C	A	2: 147,210,502 (GRCm39)	F412L	probably damaging	Het
Polg	A	T	7: 79,101,876 (GRCm39)	I1006N	probably damaging	Het
Ppp4c	A	G	7: 126,387,605 (GRCm39)	V51A	possibly damaging	Het
Scn10a	G	C	9: 119,499,056 (GRCm39)	T304R	probably benign	Het
Scp2	T	A	4: 107,964,887 (GRCm39)		probably null	Het
Ubr4	G	T	4: 139,154,104 (GRCm39)	V2104L	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
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
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

PCR Primer
(F):5'- CCAAGAGAGGTTGGACCATTTGCTG -3'
(R):5'- CCGGGTTTGTCTGCACAAGAAGAG -3'

Sequencing Primer
(F):5'- GACCATTTGCTGCGCTG -3'
(R):5'- GATCTCGACCTCTGTGGAAG -3'

Posted On

2013-08-06