Mutagenetix > Incidental Mutation

Incidental Mutation 'R1086:Dis3l2'

85009

Institutional Source

Beutler Lab

Gene Symbol

Dis3l2

Ensembl Gene

ENSMUSG00000053333

Gene Name

DIS3 like 3'-5' exoribonuclease 2

Synonyms

4930429A22Rik, 8030493P09Rik

MMRRC Submission

039172-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.358) question?

Stock #

R1086 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

86703808-87050095 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86990149 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 493 (D493N)

Ref Sequence

ENSEMBL: ENSMUSP00000070506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065694] [ENSMUST00000168237] [ENSMUST00000190618]

AlphaFold

Q8CI75

PDB Structure

Structure of mouse Dis3L2 in complex with oligoU RNA substrate [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000065694
AA Change: D493N

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000070506
Gene: ENSMUSG00000053333
AA Change: D493N

Domain	Start	End	E-Value	Type
low complexity region	12	33	N/A	INTRINSIC
low complexity region	35	48	N/A	INTRINSIC
RNB	369	719	8.9e-140	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168237
AA Change: D507N

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000132673
Gene: ENSMUSG00000053333
AA Change: D507N

Domain	Start	End	E-Value	Type
low complexity region	12	33	N/A	INTRINSIC
low complexity region	35	48	N/A	INTRINSIC
RNB	383	733	8.9e-140	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185304

Predicted Effect

probably benign
Transcript: ENSMUST00000190618

SMART Domains

Protein: ENSMUSP00000139579
Gene: ENSMUSG00000053333

Domain	Start	End	E-Value	Type
low complexity region	12	33	N/A	INTRINSIC
low complexity region	35	48	N/A	INTRINSIC
PDB:2VNU\|D	50	123	4e-10	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195266

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.4%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,295,061		probably benign	Het
Agbl4	G	C	4: 110,478,594		probably benign	Het
Ano6	T	C	15: 95,949,962		probably null	Het
B3gnt8	C	G	7: 25,628,311	N55K	probably damaging	Het
Brox	A	G	1: 183,282,488	Y252H	probably damaging	Het
Cfap100	T	A	6: 90,403,908	K605*	probably null	Het
Chd7	A	G	4: 8,866,458	T877A	probably benign	Het
Csmd3	T	A	15: 47,695,755	I2371F	probably damaging	Het
Cwc22	T	A	2: 77,924,480		probably benign	Het
Cyp2s1	A	T	7: 25,805,997	D347E	probably damaging	Het
Dab1	C	A	4: 104,328,572		probably benign	Het
Gm10354	T	C	5: 14,978,790	D29G	probably benign	Het
Got1l1	A	G	8: 27,197,979	W341R	probably damaging	Het
Gps2	A	G	11: 69,915,224		probably benign	Het
Haus1	A	C	18: 77,766,853		probably benign	Het
Itgam	T	C	7: 128,080,264	S193P	probably damaging	Het
Itpr2	C	A	6: 146,350,045	A1034S	probably damaging	Het
Lrp5	T	C	19: 3,649,476	R270G	probably benign	Het
Ltbr	G	A	6: 125,312,740		probably benign	Het
Mdga2	T	C	12: 66,506,102		probably benign	Het
Mug1	T	A	6: 121,885,854	M1387K	probably damaging	Het
Nwd2	C	T	5: 63,806,574	S1167L	probably damaging	Het
Olfr187	T	A	16: 59,036,263	H158L	probably damaging	Het
Pfkm	T	C	15: 98,131,665	V719A	probably benign	Het
Ppfia3	C	G	7: 45,361,758	G16A	probably damaging	Het
Ppp2r3a	G	A	9: 101,153,822	T245I	possibly damaging	Het
Ptprd	T	C	4: 76,133,258	T256A	probably damaging	Het
Ptprg	C	T	14: 11,952,706		probably benign	Het
Rabgap1	T	C	2: 37,469,446	V7A	probably damaging	Het
Rnh1	T	G	7: 141,163,369	Q231P	probably benign	Het
Rwdd2b	C	T	16: 87,436,558		probably benign	Het
Saal1	T	C	7: 46,689,459		probably benign	Het
Sap130	G	A	18: 31,650,620		probably benign	Het
Serpina1d	T	G	12: 103,763,787	M379L	probably benign	Het
Skor2	A	C	18: 76,859,299	S239R	unknown	Het
Slc16a13	A	G	11: 70,219,024	L217P	probably damaging	Het
Slc18b1	T	C	10: 23,803,795	M74T	probably benign	Het
Tacc2	A	T	7: 130,626,497	E1637D	possibly damaging	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tg	A	C	15: 66,684,062	I868L	probably benign	Het
Ttll5	G	A	12: 85,891,079	V395I	possibly damaging	Het
Uba6	C	A	5: 86,127,719	C739F	probably benign	Het
Unc5d	A	C	8: 28,875,630	V109G	possibly damaging	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het
Zfp462	G	T	4: 55,013,000	K507N	probably damaging	Het

Other mutations in Dis3l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Dis3l2	APN	1	86857203	missense	probably benign	0.00
IGL01607:Dis3l2	APN	1	86745487	missense	probably benign	0.04
IGL02233:Dis3l2	APN	1	86990231	missense	probably damaging	1.00
IGL02698:Dis3l2	APN	1	87048829	splice site	probably benign
R0514:Dis3l2	UTSW	1	87047092	missense	probably damaging	1.00
R0893:Dis3l2	UTSW	1	87044206	splice site	probably null
R1140:Dis3l2	UTSW	1	86821438	missense	probably benign	0.00
R1509:Dis3l2	UTSW	1	87021086	missense	possibly damaging	0.91
R2029:Dis3l2	UTSW	1	86854467	splice site	probably benign
R2511:Dis3l2	UTSW	1	86990258	missense	probably benign	0.05
R3772:Dis3l2	UTSW	1	86854408	missense	probably benign
R4163:Dis3l2	UTSW	1	86821237	missense	probably benign	0.00
R4547:Dis3l2	UTSW	1	87049671	missense	probably benign	0.00
R4548:Dis3l2	UTSW	1	87049671	missense	probably benign	0.00
R4650:Dis3l2	UTSW	1	86990321	missense	possibly damaging	0.83
R4810:Dis3l2	UTSW	1	87047574	missense	probably damaging	0.99
R4936:Dis3l2	UTSW	1	87044168	missense	probably benign	0.00
R5010:Dis3l2	UTSW	1	86760321	missense	probably benign	0.21
R5040:Dis3l2	UTSW	1	86857337	missense	probably damaging	0.98
R5272:Dis3l2	UTSW	1	86973404	missense	possibly damaging	0.72
R5500:Dis3l2	UTSW	1	87021119	critical splice donor site	probably null
R5556:Dis3l2	UTSW	1	86973404	missense	possibly damaging	0.72
R5772:Dis3l2	UTSW	1	86878432	missense	probably damaging	1.00
R5808:Dis3l2	UTSW	1	87049638	missense	possibly damaging	0.94
R5950:Dis3l2	UTSW	1	87021108	missense	probably damaging	0.96
R6328:Dis3l2	UTSW	1	86854431	missense	probably benign	0.05
R6553:Dis3l2	UTSW	1	86745494	missense	probably damaging	1.00
R6585:Dis3l2	UTSW	1	86745494	missense	probably damaging	1.00
R6905:Dis3l2	UTSW	1	87044839	missense	probably benign	0.00
R6921:Dis3l2	UTSW	1	86857341	missense	probably benign
R7162:Dis3l2	UTSW	1	87044030	missense	possibly damaging	0.94
R7270:Dis3l2	UTSW	1	86990303	missense	possibly damaging	0.49
R7438:Dis3l2	UTSW	1	86745500	critical splice donor site	probably null
R8422:Dis3l2	UTSW	1	86854377	missense	probably benign
R8696:Dis3l2	UTSW	1	86791440	nonsense	probably null
R9235:Dis3l2	UTSW	1	86821339	missense	possibly damaging	0.95
R9291:Dis3l2	UTSW	1	86973493	missense	possibly damaging	0.82
R9629:Dis3l2	UTSW	1	87047062	missense	probably benign	0.00
X0027:Dis3l2	UTSW	1	86760351	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GCCATTCAGTGCAAGTCTTCCACG -3'
(R):5'- AGGCCACCAGGATATTTCTCACCC -3'

Sequencing Primer
(F):5'- CTAGGGCCTGGTAGTCTAAAC -3'
(R):5'- CTGACCTGATCTAAACGGAGTG -3'

Posted On

2013-11-18