Mutagenetix > Incidental Mutation

Incidental Mutation 'R8696:Dis3l2'

668667

Institutional Source

Beutler Lab

Gene Symbol

Dis3l2

Ensembl Gene

ENSMUSG00000053333

Gene Name

DIS3 like 3'-5' exoribonuclease 2

Synonyms

4930429A22Rik, 8030493P09Rik

MMRRC Submission

068550-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.422) question?

Stock #

R8696 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86703808-87050095 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 86791440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 131 (G131*)

Ref Sequence

ENSEMBL: ENSMUSP00000132673 (fasta)

Gene Model

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

AlphaFold

Q8CI75

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 null
Transcript: ENSMUST00000168237
AA Change: G131*

SMART Domains

Protein: ENSMUSP00000132673
Gene: ENSMUSG00000053333
AA Change: G131*

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

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	C	15: 64,815,386	N423S	probably benign	Het
Adgrl4	T	C	3: 151,542,707	L672P	probably damaging	Het
Akr1b10	C	T	6: 34,392,132	T182I	possibly damaging	Het
Ankrd33	A	G	15: 101,116,983	I84V	probably benign	Het
Arhgap32	A	G	9: 32,248,503	Y272C	possibly damaging	Het
Arid4a	T	C	12: 71,063,316	S144P	probably damaging	Het
Bicd1	A	G	6: 149,513,787	D666G	probably damaging	Het
Blk	A	T	14: 63,380,700		probably benign	Het
Btbd2	C	T	10: 80,644,681	R366Q	possibly damaging	Het
Cacna1i	T	C	15: 80,381,974	V1554A	probably damaging	Het
Camsap3	T	C	8: 3,603,614	L428P	probably damaging	Het
Ccdc30	T	G	4: 119,377,308	Y69S	possibly damaging	Het
Ccdc7a	T	A	8: 128,988,763	E280V	probably damaging	Het
Cdk11b	T	C	4: 155,648,322	V539A	unknown	Het
Ceacam3	A	T	7: 17,160,012	N483Y		Het
Cenpf	C	T	1: 189,657,997	A1213T	probably benign	Het
Chrna6	G	T	8: 27,407,167	Y227*	probably null	Het
Cntnap5c	A	T	17: 58,294,299	D814V	probably damaging	Het
Csl	A	T	10: 99,758,964	Y80N	probably damaging	Het
Ctsm	A	G	13: 61,537,707	L297P	probably damaging	Het
Cyp4a31	G	A	4: 115,565,028	E70K	probably benign	Het
Dhx8	T	C	11: 101,733,132	V31A	unknown	Het
Dkk1	G	A	19: 30,549,288	A31V	probably damaging	Het
Dlx3	C	T	11: 95,121,770	R130*	probably null	Het
Dnajc24	T	C	2: 106,001,970	M23V	probably benign	Het
Dnmbp	T	A	19: 43,874,223	N76I	probably damaging	Het
Ezh1	T	C	11: 101,209,479	N226S	probably benign	Het
Fabp9	C	T	3: 10,193,987	V120M	possibly damaging	Het
Fcrlb	A	G	1: 170,912,079	C85R	probably damaging	Het
Gnai2	A	C	9: 107,619,769	L131R		Het
Gprin1	A	G	13: 54,737,951	W837R	probably damaging	Het
Grm3	C	T	5: 9,512,311	C513Y	probably damaging	Het
H60c	T	A	10: 3,260,265	I95F	possibly damaging	Het
Hecw1	A	G	13: 14,357,158	V177A	possibly damaging	Het
Herc6	T	A	6: 57,647,149	C635S	probably benign	Het
Itga4	A	T	2: 79,281,781	M347L	probably benign	Het
Kif20b	A	G	19: 34,937,352	H436R	probably benign	Het
Klrg2	G	T	6: 38,636,495	P191Q	possibly damaging	Het
Krt5	A	G	15: 101,710,307	Y340H	probably damaging	Het
Map9	T	A	3: 82,363,361	H77Q	possibly damaging	Het
Mfsd13a	A	G	19: 46,368,118	T221A	probably benign	Het
Myo10	C	G	15: 25,799,486	H1378Q	probably damaging	Het
Nkx6-1	T	C	5: 101,659,647	T290A	possibly damaging	Het
Nlgn3	T	C	X: 101,308,784	V179A	probably damaging	Het
Notch1	T	A	2: 26,477,992		probably benign	Het
Nr1d2	A	T	14: 18,216,661	M169K	probably damaging	Het
Olfr1329	C	T	4: 118,917,438	V10I	probably benign	Het
Olfr157	A	G	4: 43,836,193	V99A	probably benign	Het
Olfr738	A	G	14: 50,413,963	M140V	possibly damaging	Het
Olfr810	A	T	10: 129,790,693	F299I	possibly damaging	Het
Olfr890	A	G	9: 38,143,137	M1V	probably null	Het
Pdia6	T	A	12: 17,279,661	I266K	probably damaging	Het
Phactr4	T	C	4: 132,363,794		probably null	Het
Polr1b	T	A	2: 129,125,651	L988Q	probably damaging	Het
Por	A	T	5: 135,734,258	M541L	probably benign	Het
Ppid	T	C	3: 79,591,382		probably benign	Het
Prp2	A	T	6: 132,600,359	Q203L	unknown	Het
Psme4	T	G	11: 30,809,896	F340V	probably damaging	Het
Ptges2	T	C	2: 32,400,065	S164P	probably damaging	Het
Rab18	G	A	18: 6,788,635	G201S	probably damaging	Het
Rbm19	A	G	5: 120,127,067	E391G	probably damaging	Het
Rcbtb2	T	G	14: 73,166,865	V259G	probably damaging	Het
Rpn1	C	A	6: 88,103,377	Q553K	possibly damaging	Het
Sash1	A	G	10: 8,733,695	S697P	probably damaging	Het
Sdad1	T	G	5: 92,289,786	H603P	probably damaging	Het
Serpini1	T	C	3: 75,613,237	L47P	probably damaging	Het
Sorbs2	T	A	8: 45,795,649	S646T	possibly damaging	Het
Spdye4a	T	A	5: 143,224,999	E105D	probably benign	Het
Srsf12	G	A	4: 33,231,181	C230Y	possibly damaging	Het
Stard9	A	T	2: 120,701,114	R2617S	probably benign	Het
Tas2r118	G	T	6: 23,969,345	T239K	probably damaging	Het
Tlr1	A	G	5: 64,926,751	L161P	probably benign	Het
Ttc21a	T	G	9: 119,943,911	V218G	possibly damaging	Het
Ttc6	T	C	12: 57,737,706	S1854P	probably benign	Het
Unc93a	A	G	17: 13,122,965	L93P	probably damaging	Het
Vcan	A	T	13: 89,691,098	I2109N	probably benign	Het
Vmn1r225	A	T	17: 20,503,157	S287C	probably damaging	Het
Vmn1r43	A	G	6: 89,870,339	F55S	probably damaging	Het
Zfp72	A	G	13: 74,372,480	Y160H	probably damaging	Het
Zfp772	T	C	7: 7,205,519	T109A	possibly 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
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
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'- GCAGCAATAGTTCAGGCAGG -3'
(R):5'- GGCTTTGAAAATAAGGCCCC -3'

Sequencing Primer
(F):5'- CAGCAATAGTTCAGGCAGGTTTTC -3'
(R):5'- GGCTTTGAAAATAAGGCCCCCATAAG -3'

Posted On

2021-04-30