Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02698:Dis3l2'

304044

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dis3l2

Ensembl Gene

ENSMUSG00000053333

Gene Name

DIS3 like 3'-5' exoribonuclease 2

Synonyms

4930429A22Rik, 8030493P09Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.387) question?

Stock #

IGL02698

Quality Score

Status

Chromosome

Chromosomal Location

86703808-87050095 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 87048829 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139579 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000065694

SMART Domains

Protein: ENSMUSP00000070506
Gene: ENSMUSG00000053333

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

SMART Domains

Protein: ENSMUSP00000132673
Gene: ENSMUSG00000053333

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

Coding Region Coverage

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arpp21	T	A	9: 112,185,744		probably benign	Het
Car8	A	T	4: 8,185,598	I186N	probably benign	Het
Ccdc174	G	A	6: 91,890,853	S183N	probably benign	Het
Ccdc66	T	A	14: 27,490,792	K525*	probably null	Het
Cebpz	A	G	17: 78,935,574	V217A	probably benign	Het
Cfap36	C	A	11: 29,247,014		probably null	Het
Cpne4	T	C	9: 105,032,785	V527A	probably damaging	Het
Crh	T	G	3: 19,694,190	D96A	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dcp1a	A	T	14: 30,505,542		probably benign	Het
Ddhd1	A	T	14: 45,605,206		probably benign	Het
Dopey1	T	C	9: 86,524,359		probably benign	Het
Etv3	A	G	3: 87,536,578	T490A	possibly damaging	Het
Fastkd2	A	G	1: 63,747,999	T531A	probably benign	Het
Fat1	C	T	8: 45,023,164	A1749V	probably benign	Het
Fgfr1	T	A	8: 25,573,608	L761*	probably null	Het
Gcc2	A	G	10: 58,271,290	K683E	possibly damaging	Het
Gm17677	T	C	9: 35,741,120		probably benign	Het
Gm5117	C	T	8: 31,739,739		noncoding transcript	Het
Hif1a	T	C	12: 73,930,771		probably null	Het
Inha	A	G	1: 75,509,883	E274G	probably damaging	Het
Itih2	G	T	2: 10,130,501	P26H	probably damaging	Het
Kif23	G	A	9: 61,925,001	T620I	possibly damaging	Het
Klhl30	T	C	1: 91,353,707	F10S	probably damaging	Het
Kmt2b	T	C	7: 30,578,693		probably benign	Het
Lmf2	A	C	15: 89,354,154	L174R	probably damaging	Het
Med13l	T	C	5: 118,762,829	L2216P	probably damaging	Het
Mmp1b	T	A	9: 7,384,877	L257F	probably damaging	Het
Net1	A	G	13: 3,887,569		probably null	Het
Nfasc	A	G	1: 132,634,737	V100A	probably benign	Het
Nr4a2	A	G	2: 57,108,160	F535S	probably damaging	Het
Ntn4	G	T	10: 93,644,659	A45S	probably benign	Het
Olfr1141	T	A	2: 87,753,844	K50*	probably null	Het
Olfr1197	T	A	2: 88,729,471	I43F	probably damaging	Het
Olfr1386	T	A	11: 49,470,863	F237L	probably benign	Het
Olfr243	T	C	7: 103,717,278	V228A	probably damaging	Het
Olfr25	A	G	9: 38,330,210	T208A	probably benign	Het
Pappa	A	T	4: 65,181,020	E592V	probably damaging	Het
Pi4ka	A	T	16: 17,291,168	I1630N	probably damaging	Het
Ptprb	A	G	10: 116,363,280	D1997G	probably benign	Het
Rc3h2	A	T	2: 37,405,300	S235T	probably damaging	Het
S1pr1	T	A	3: 115,712,097	K283*	probably null	Het
Scn5a	T	A	9: 119,521,097	T904S	probably damaging	Het
Sema6d	T	C	2: 124,653,723	L30P	possibly damaging	Het
Slc26a7	A	C	4: 14,593,867	S83A	possibly damaging	Het
Slco1a6	C	A	6: 142,103,011	G348*	probably null	Het
Srgap3	C	T	6: 112,746,928	V524I	probably damaging	Het
Stxbp3-ps	A	T	19: 9,558,324		noncoding transcript	Het
Sv2b	C	T	7: 75,140,978		probably null	Het
Sympk	T	C	7: 19,045,634	I663T	probably benign	Het
Ttn	C	A	2: 76,944,771	V1976L	probably damaging	Het
Uqcrc1	T	C	9: 108,947,943		probably null	Het
Vmn2r111	T	C	17: 22,571,245	Y260C	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
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
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
X0027:Dis3l2	UTSW	1	86760351	missense	possibly damaging	0.93

Posted On

2015-04-16