Mutagenetix > Incidental Mutations

Incidental Mutation 'R1140:Dis3l2'

102011

Institutional Source

Beutler Lab

Gene Symbol

Dis3l2

Ensembl Gene

ENSMUSG00000053333

Gene Name

DIS3 like 3'-5' exoribonuclease 2

Synonyms

4930429A22Rik, 8030493P09Rik

MMRRC Submission

039213-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.342) question?

Stock #

R1140 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86703808-87050095 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86821438 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 209 (T209S)

Ref Sequence

ENSEMBL: ENSMUSP00000132673 (fasta)

Gene Model

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

AlphaFold

Q8CI75

Predicted Effect

probably benign
Transcript: ENSMUST00000065694
AA Change: T195S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000070506
Gene: ENSMUSG00000053333
AA Change: T195S

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: T209S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132673
Gene: ENSMUSG00000053333
AA Change: T209S

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: 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194093

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	T	A	8: 120,150,135	S161T	probably damaging	Het
Ahnak	T	A	19: 9,004,245	D964E	probably damaging	Het
Aldh18a1	T	C	19: 40,574,285	I215V	probably benign	Het
Arfgef3	T	A	10: 18,597,348	I1656F	possibly damaging	Het
Aurka	T	C	2: 172,357,229	D285G	probably damaging	Het
Cep83	A	G	10: 94,737,890	K214E	probably damaging	Het
Dock7	A	G	4: 99,065,406	M363T	possibly damaging	Het
Dsc2	C	A	18: 20,032,212	K901N	probably damaging	Het
Fam234b	A	T	6: 135,225,758	H370L	probably benign	Het
Fanca	A	C	8: 123,313,129		probably null	Het
Fastkd5	C	T	2: 130,616,215	V152I	probably benign	Het
Fndc1	T	C	17: 7,775,426	R337G	unknown	Het
Fsip2	T	A	2: 82,975,034	Y566N	probably damaging	Het
Gsc	A	T	12: 104,473,102	M5K	probably damaging	Het
Muc5b	A	G	7: 141,858,996	E1893G	unknown	Het
Myh7	T	C	14: 54,972,882	T1789A	probably damaging	Het
Npr2	A	G	4: 43,648,353	T884A	possibly damaging	Het
Olfr389	T	A	11: 73,776,854	M158L	probably benign	Het
Parg	T	C	14: 32,296,243	S432P	probably benign	Het
Ptdss1	T	C	13: 66,963,356	V162A	probably benign	Het
Samsn1	C	T	16: 75,888,742	E43K	possibly damaging	Het
Sis	C	T	3: 72,951,616	V361I	probably damaging	Het
Speg	A	T	1: 75,429,095	N2981I	probably damaging	Het
Stk32c	C	T	7: 139,125,179	R23Q	probably damaging	Het
Taok3	T	C	5: 117,228,053	S231P	possibly damaging	Het
Tbc1d2b	A	G	9: 90,226,376	V374A	possibly damaging	Het
Xxylt1	T	A	16: 31,007,848		probably null	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
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
X0027:Dis3l2	UTSW	1	86760351	missense	possibly damaging	0.93

Predicted Primers

Posted On

2014-01-15