Mutagenetix > Incidental Mutations

Incidental Mutation 'R2186:Dis3l'

237769

Institutional Source

Beutler Lab

Gene Symbol

Dis3l

Ensembl Gene

ENSMUSG00000032396

Gene Name

DIS3 like exosome 3'-5' exoribonuclease

Synonyms

MMRRC Submission

040188-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.244) question?

Stock #

R2186 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64306756-64341288 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 64339612 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 54 (E54*)

Ref Sequence

ENSEMBL: ENSMUSP00000129772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068367] [ENSMUST00000113890] [ENSMUST00000120760] [ENSMUST00000154076] [ENSMUST00000168844]

Predicted Effect

probably benign
Transcript: ENSMUST00000068367

SMART Domains

Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396

Domain	Start	End	E-Value	Type
low complexity region	125	137	N/A	INTRINSIC
RNB	382	734	4.82e-127	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113890

SMART Domains

Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396

Domain	Start	End	E-Value	Type
low complexity region	125	137	N/A	INTRINSIC
RNB	382	734	4.82e-127	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120760

SMART Domains

Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396

Domain	Start	End	E-Value	Type
low complexity region	125	137	N/A	INTRINSIC
RNB	382	734	4.82e-127	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144257

Predicted Effect

probably benign
Transcript: ENSMUST00000154076

Predicted Effect

probably null
Transcript: ENSMUST00000168844
AA Change: E54*

SMART Domains

Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396
AA Change: E54*

Domain	Start	End	E-Value	Type
low complexity region	208	220	N/A	INTRINSIC
RNB	465	817	4.82e-127	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cytoplasmic RNA exosome complex degrades unstable mRNAs and is involved in the regular turnover of other mRNAs. The protein encoded by this gene contains 3'-5' exoribonuclease activity and is a catalytic component of this complex. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,208,514	N29S	probably damaging	Het
4931409K22Rik	C	T	5: 24,554,526	G82E	probably damaging	Het
Ap1b1	T	C	11: 5,015,737	V92A	possibly damaging	Het
Asgr1	G	A	11: 70,056,249	R66Q	probably benign	Het
Atp8b4	T	A	2: 126,358,860	Q796L	probably damaging	Het
Camk4	A	C	18: 33,182,341	D307A	probably damaging	Het
Catsperb	T	A	12: 101,480,782	I223K	probably benign	Het
Ccdc80	A	G	16: 45,118,105	Y725C	probably damaging	Het
Cep164	T	A	9: 45,768,578	Q1119L	probably damaging	Het
Cep85l	G	A	10: 53,348,618	P292S	probably damaging	Het
Cfap53	A	G	18: 74,329,505		probably null	Het
Cts8	C	A	13: 61,251,731	C138F	probably damaging	Het
Dnaja1	T	A	4: 40,732,853	D367E	probably benign	Het
Duoxa2	T	C	2: 122,299,174	I45T	probably damaging	Het
EU599041	C	T	7: 43,225,909		noncoding transcript	Het
Exoc5	T	C	14: 49,015,479	M561V	probably benign	Het
Fam184a	T	C	10: 53,638,194	I296V	probably damaging	Het
Fbxl18	C	T	5: 142,878,761	V686M	probably damaging	Het
Fryl	A	G	5: 73,064,975	S2088P	probably damaging	Het
Fus	G	A	7: 127,985,534		probably benign	Het
Gm38394	A	G	1: 133,658,079	S507P	probably damaging	Het
Gpr183	T	A	14: 121,954,315	I265L	probably benign	Het
Herc1	T	G	9: 66,439,901	L2013V	probably benign	Het
Ick	C	T	9: 78,131,487	T6M	probably benign	Het
Iqca	T	C	1: 90,081,344	K430R	probably benign	Het
Itpripl2	A	G	7: 118,491,277	C20R	probably damaging	Het
Kmt2c	C	A	5: 25,287,112	C852F	probably damaging	Het
Lamb1	A	T	12: 31,318,467	K1199*	probably null	Het
Lrba	A	G	3: 86,304,336	Y421C	probably damaging	Het
Lrig2	A	G	3: 104,468,598	L96P	probably benign	Het
Mcc	A	G	18: 44,812,078	F29S	possibly damaging	Het
Mlh1	T	C	9: 111,258,566		probably benign	Het
Mpp5	T	C	12: 78,819,371		probably benign	Het
Rbm33	A	G	5: 28,394,230	T867A	unknown	Het
Sdk1	T	A	5: 142,046,292	S1041T	probably benign	Het
Serpinb2	A	G	1: 107,523,964		probably null	Het
Serpinb9d	A	G	13: 33,203,047	N366S	possibly damaging	Het
Sf3b1	A	G	1: 55,007,633	S251P	probably benign	Het
Slc45a1	T	C	4: 150,638,251	Y392C	probably benign	Het
Tlr4	T	A	4: 66,839,983	C338S	possibly damaging	Het
Trio	A	G	15: 27,823,975		probably null	Het
Vnn1	A	T	10: 23,897,401	I109L	probably benign	Het
Wnk1	A	G	6: 119,948,567	V1312A	probably benign	Het
Zfp28	A	G	7: 6,394,498	H644R	probably damaging	Het
Zfp286	A	G	11: 62,780,461	V262A	probably damaging	Het
Zfp292	A	T	4: 34,807,962	M1694K	probably benign	Het

Other mutations in Dis3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01736:Dis3l	APN	9	64319254	critical splice acceptor site	probably null
IGL01812:Dis3l	APN	9	64310237	missense	probably benign	0.00
IGL01838:Dis3l	APN	9	64308299	missense	probably benign	0.41
IGL02104:Dis3l	APN	9	64310329	missense	possibly damaging	0.61
IGL02478:Dis3l	APN	9	64314773	missense	probably benign	0.00
IGL02481:Dis3l	APN	9	64319080	splice site	probably null
IGL02483:Dis3l	APN	9	64319080	splice site	probably null
IGL02965:Dis3l	APN	9	64310484	missense	probably damaging	0.99
IGL03139:Dis3l	APN	9	64311950	missense	probably damaging	0.99
IGL03054:Dis3l	UTSW	9	64310440	critical splice donor site	probably null
R0066:Dis3l	UTSW	9	64319165	missense	probably benign	0.27
R0066:Dis3l	UTSW	9	64319165	missense	probably benign	0.27
R0724:Dis3l	UTSW	9	64307126	missense	possibly damaging	0.92
R0801:Dis3l	UTSW	9	64319154	missense	probably benign
R0925:Dis3l	UTSW	9	64341130	start codon destroyed	probably null	0.97
R1502:Dis3l	UTSW	9	64325787	missense	possibly damaging	0.68
R1541:Dis3l	UTSW	9	64307489	missense	probably benign	0.07
R1794:Dis3l	UTSW	9	64317776	missense	possibly damaging	0.67
R1929:Dis3l	UTSW	9	64330883	missense	probably damaging	0.96
R2007:Dis3l	UTSW	9	64308276	splice site	probably null
R2062:Dis3l	UTSW	9	64339573	missense	probably benign	0.02
R2152:Dis3l	UTSW	9	64307263	missense	probably benign	0.00
R2153:Dis3l	UTSW	9	64307263	missense	probably benign	0.00
R2154:Dis3l	UTSW	9	64307263	missense	probably benign	0.00
R2271:Dis3l	UTSW	9	64330883	missense	probably damaging	0.96
R2280:Dis3l	UTSW	9	64317794	missense	possibly damaging	0.70
R2287:Dis3l	UTSW	9	64307497	missense	probably benign	0.20
R3156:Dis3l	UTSW	9	64311750	missense	probably benign	0.25
R4664:Dis3l	UTSW	9	64330798	missense	unknown
R4775:Dis3l	UTSW	9	64330908	missense	probably benign	0.16
R4977:Dis3l	UTSW	9	64307201	missense	probably benign	0.00
R4997:Dis3l	UTSW	9	64311942	missense	possibly damaging	0.76
R5097:Dis3l	UTSW	9	64319216	missense	probably damaging	1.00
R5579:Dis3l	UTSW	9	64330835	missense	probably benign	0.44
R5623:Dis3l	UTSW	9	64307603	missense	possibly damaging	0.70
R6310:Dis3l	UTSW	9	64322575	missense	probably benign	0.00
R6442:Dis3l	UTSW	9	64307555	missense	probably benign
R6505:Dis3l	UTSW	9	64307513	missense	probably benign	0.15
R6731:Dis3l	UTSW	9	64310438	splice site	probably null
R7008:Dis3l	UTSW	9	64310453	missense	possibly damaging	0.96
R7405:Dis3l	UTSW	9	64314704	missense	probably damaging	1.00
R7555:Dis3l	UTSW	9	64311937	nonsense	probably null
R7798:Dis3l	UTSW	9	64341017	missense	probably benign
R7890:Dis3l	UTSW	9	64322471	missense	probably benign	0.00
R8329:Dis3l	UTSW	9	64311830	missense	possibly damaging	0.50
X0020:Dis3l	UTSW	9	64325734	missense	probably damaging	1.00
X0065:Dis3l	UTSW	9	64307054	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCTCTAACAAGGGACCTTTTCTAAAG -3'
(R):5'- GAACTTTGAGCCTCCACCAAAG -3'

Sequencing Primer
(F):5'- CTTTTCTAAAGGGGGCAGGG -3'
(R):5'- TGAGCCTCCACCAAAGTAGATTTGTC -3'

Posted On

2014-10-02