Mutagenetix > Incidental Mutations

Incidental Mutation 'R6328:Dis3l2'

510782

Institutional Source

Beutler Lab

Gene Symbol

Dis3l2

Ensembl Gene

ENSMUSG00000053333

Gene Name

DIS3 like 3'-5' exoribonuclease 2

Synonyms

4930429A22Rik, 8030493P09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.389) question?

Stock #

R6328 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86703808-87050095 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86854431 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 223 (S223T)

Ref Sequence

ENSEMBL: ENSMUSP00000070506 (fasta)

Gene Model

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

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000065694
AA Change: S223T

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000070506
Gene: ENSMUSG00000053333
AA Change: S223T

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: S237T

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

SMART Domains

Protein: ENSMUSP00000132673
Gene: ENSMUSG00000053333
AA Change: S237T

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: ENSMUST00000186682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189044

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

Meta Mutation Damage Score

0.1207

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (57/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,602,436		probably benign	Het
Abcb10	G	A	8: 123,962,017	R507W	probably damaging	Het
Actg1	T	C	11: 120,347,760	D80G	possibly damaging	Het
Actr5	A	G	2: 158,635,344	D405G	possibly damaging	Het
Ahnak	C	T	19: 9,007,148	T1932I	probably benign	Het
Ankk1	T	A	9: 49,416,071	T603S	possibly damaging	Het
Atp13a3	A	T	16: 30,336,235	F964I	probably damaging	Het
Atp6v1g3	A	G	1: 138,287,832	T77A	probably benign	Het
Bccip	A	G	7: 133,717,774	H198R	probably damaging	Het
Bsx	A	T	9: 40,874,223	R16W	probably damaging	Het
Ccdc88b	C	T	19: 6,849,038	R1103Q	probably damaging	Het
Cd59a	A	C	2: 104,110,758	Y27S	probably damaging	Het
Cdk20	A	G	13: 64,436,599	H162R	probably damaging	Het
Col6a2	C	T	10: 76,614,378	E240K	possibly damaging	Het
Ddr2	A	G	1: 169,987,065	V603A	possibly damaging	Het
Dgkz	A	G	2: 91,942,635	V359A	probably benign	Het
Dpysl4	A	G	7: 139,099,818	S535G	probably benign	Het
Dsp	A	T	13: 38,197,006	K1977*	probably null	Het
Dync2h1	A	T	9: 7,165,717	S515T	probably benign	Het
Epg5	A	G	18: 78,028,964	E2397G	possibly damaging	Het
Fam83d	G	A	2: 158,785,176	G262S	probably damaging	Het
Frmd4a	A	T	2: 4,590,698	T477S	probably damaging	Het
Gbp3	A	G	3: 142,569,058	E382G	probably benign	Het
Gltp	A	T	5: 114,670,511	C157S	possibly damaging	Het
Grb10	A	G	11: 11,937,905	S378P	probably damaging	Het
Gulo	G	T	14: 66,002,631	T126K	probably damaging	Het
H2-M10.6	T	A	17: 36,813,944	M251K	probably damaging	Het
Hecw1	T	C	13: 14,247,620	D967G	possibly damaging	Het
Htr3b	A	T	9: 48,947,633	D68E	probably damaging	Het
Igkv5-39	G	T	6: 69,900,505	S89*	probably null	Het
Kctd4	C	A	14: 75,962,597		probably benign	Het
Lmna	T	C	3: 88,486,506	Q255R	probably damaging	Het
Lsmem1	A	G	12: 40,180,657	I82T	possibly damaging	Het
Lyg2	T	A	1: 37,911,113	M45L	probably benign	Het
Myo5b	G	A	18: 74,616,993	A176T	probably damaging	Het
Nudt5	A	T	2: 5,864,437	K158I	possibly damaging	Het
Nufip1	C	T	14: 76,111,054	P41L	possibly damaging	Het
Olfr1307	A	T	2: 111,945,394	W21R	probably null	Het
Olfr618	A	T	7: 103,597,866	E183D	probably damaging	Het
Pcp2	T	C	8: 3,624,887	D22G	probably damaging	Het
Pdk2	G	C	11: 95,039,402	N69K	possibly damaging	Het
Pdlim7	G	T	13: 55,508,092		probably benign	Het
Ptprc	C	A	1: 138,113,678	E148*	probably null	Het
Rassf5	A	T	1: 131,180,668	V225E	probably damaging	Het
Rbm6	A	T	9: 107,787,259	M725K	probably benign	Het
Scn1a	T	A	2: 66,273,316	I1867F	probably damaging	Het
Sdk2	T	A	11: 113,793,755	Q1960L	probably damaging	Het
Setx	A	G	2: 29,174,462		probably benign	Het
Sgo2b	T	A	8: 63,928,311	R496*	probably null	Het
Slco1a1	C	T	6: 141,932,450	V222I	probably damaging	Het
Sntg2	A	C	12: 30,258,014	L224R	probably damaging	Het
Syt16	C	A	12: 74,266,693	C464*	probably null	Het
Tapbpl	T	A	6: 125,224,918	S420C	probably benign	Het
Tax1bp1	A	G	6: 52,746,709	E528G	probably benign	Het
Tmem168	T	C	6: 13,602,711	T219A	probably benign	Het
Zfp180	T	C	7: 24,105,556	F467L	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
R1086:Dis3l2	UTSW	1	86990149	missense	probably benign	0.36
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
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
X0027:Dis3l2	UTSW	1	86760351	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGTGCCGTGGAGTACTTGAC -3'
(R):5'- AGCCAACTGTGTTTGGTCC -3'

Sequencing Primer
(F):5'- GTGGAGTACTTGACCTCCATGAAC -3'
(R):5'- TGGTCCTACACCTGAAGATGC -3'

Posted On

2018-04-02