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

8030493P09Rik, 4930429A22Rik

MMRRC Submission

068550-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.319) question?

Stock #

R8696 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86631530-86977817 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 86719162 bp (GRCm39)

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: 64,687,235 (GRCm39)	N423S	probably benign	Het
Adgrl4	T	C	3: 151,248,344 (GRCm39)	L672P	probably damaging	Het
Akr1b10	C	T	6: 34,369,067 (GRCm39)	T182I	possibly damaging	Het
Ankrd33	A	G	15: 101,014,864 (GRCm39)	I84V	probably benign	Het
Arhgap32	A	G	9: 32,159,799 (GRCm39)	Y272C	possibly damaging	Het
Arid4a	T	C	12: 71,110,090 (GRCm39)	S144P	probably damaging	Het
Bicd1	A	G	6: 149,415,285 (GRCm39)	D666G	probably damaging	Het
Blk	A	T	14: 63,618,149 (GRCm39)		probably benign	Het
Btbd2	C	T	10: 80,480,515 (GRCm39)	R366Q	possibly damaging	Het
Cacna1i	T	C	15: 80,266,175 (GRCm39)	V1554A	probably damaging	Het
Camsap3	T	C	8: 3,653,614 (GRCm39)	L428P	probably damaging	Het
Ccdc30	T	G	4: 119,234,505 (GRCm39)	Y69S	possibly damaging	Het
Ccdc7a	T	A	8: 129,715,244 (GRCm39)	E280V	probably damaging	Het
Cdk11b	T	C	4: 155,732,779 (GRCm39)	V539A	unknown	Het
Ceacam3	A	T	7: 16,893,937 (GRCm39)	N483Y		Het
Cenpf	C	T	1: 189,390,194 (GRCm39)	A1213T	probably benign	Het
Chrna6	G	T	8: 27,897,195 (GRCm39)	Y227*	probably null	Het
Cntnap5c	A	T	17: 58,601,294 (GRCm39)	D814V	probably damaging	Het
Csl	A	T	10: 99,594,826 (GRCm39)	Y80N	probably damaging	Het
Ctsm	A	G	13: 61,685,521 (GRCm39)	L297P	probably damaging	Het
Cyp4a31	G	A	4: 115,422,225 (GRCm39)	E70K	probably benign	Het
Dhx8	T	C	11: 101,623,958 (GRCm39)	V31A	unknown	Het
Dkk1	G	A	19: 30,526,688 (GRCm39)	A31V	probably damaging	Het
Dlx3	C	T	11: 95,012,596 (GRCm39)	R130*	probably null	Het
Dnajc24	T	C	2: 105,832,315 (GRCm39)	M23V	probably benign	Het
Dnmbp	T	A	19: 43,862,662 (GRCm39)	N76I	probably damaging	Het
Ezh1	T	C	11: 101,100,305 (GRCm39)	N226S	probably benign	Het
Fabp9	C	T	3: 10,259,047 (GRCm39)	V120M	possibly damaging	Het
Fcrlb	A	G	1: 170,739,648 (GRCm39)	C85R	probably damaging	Het
Gnai2	A	C	9: 107,496,968 (GRCm39)	L131R		Het
Gprin1	A	G	13: 54,885,764 (GRCm39)	W837R	probably damaging	Het
Grm3	C	T	5: 9,562,311 (GRCm39)	C513Y	probably damaging	Het
H60c	T	A	10: 3,210,265 (GRCm39)	I95F	possibly damaging	Het
Hecw1	A	G	13: 14,531,743 (GRCm39)	V177A	possibly damaging	Het
Herc6	T	A	6: 57,624,134 (GRCm39)	C635S	probably benign	Het
Itga4	A	T	2: 79,112,125 (GRCm39)	M347L	probably benign	Het
Kif20b	A	G	19: 34,914,752 (GRCm39)	H436R	probably benign	Het
Klrg2	G	T	6: 38,613,430 (GRCm39)	P191Q	possibly damaging	Het
Krt5	A	G	15: 101,618,742 (GRCm39)	Y340H	probably damaging	Het
Map9	T	A	3: 82,270,668 (GRCm39)	H77Q	possibly damaging	Het
Mfsd13a	A	G	19: 46,356,557 (GRCm39)	T221A	probably benign	Het
Myo10	C	G	15: 25,799,572 (GRCm39)	H1378Q	probably damaging	Het
Nkx6-1	T	C	5: 101,807,513 (GRCm39)	T290A	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Notch1	T	A	2: 26,368,004 (GRCm39)		probably benign	Het
Nr1d2	A	T	14: 18,216,661 (GRCm38)	M169K	probably damaging	Het
Or10ak8	C	T	4: 118,774,635 (GRCm39)	V10I	probably benign	Het
Or11g1	A	G	14: 50,651,420 (GRCm39)	M140V	possibly damaging	Het
Or13c7c	A	G	4: 43,836,193 (GRCm39)	V99A	probably benign	Het
Or6c69b	A	T	10: 129,626,562 (GRCm39)	F299I	possibly damaging	Het
Or8b41	A	G	9: 38,054,433 (GRCm39)	M1V	probably null	Het
Pdia6	T	A	12: 17,329,662 (GRCm39)	I266K	probably damaging	Het
Phactr4	T	C	4: 132,091,105 (GRCm39)		probably null	Het
Polr1b	T	A	2: 128,967,571 (GRCm39)	L988Q	probably damaging	Het
Por	A	T	5: 135,763,112 (GRCm39)	M541L	probably benign	Het
Ppid	T	C	3: 79,498,689 (GRCm39)		probably benign	Het
Prp2	A	T	6: 132,577,322 (GRCm39)	Q203L	unknown	Het
Psme4	T	G	11: 30,759,896 (GRCm39)	F340V	probably damaging	Het
Ptges2	T	C	2: 32,290,077 (GRCm39)	S164P	probably damaging	Het
Rab18	G	A	18: 6,788,635 (GRCm39)	G201S	probably damaging	Het
Rbm19	A	G	5: 120,265,132 (GRCm39)	E391G	probably damaging	Het
Rcbtb2	T	G	14: 73,404,305 (GRCm39)	V259G	probably damaging	Het
Rpn1	C	A	6: 88,080,359 (GRCm39)	Q553K	possibly damaging	Het
Sash1	A	G	10: 8,609,459 (GRCm39)	S697P	probably damaging	Het
Sdad1	T	G	5: 92,437,645 (GRCm39)	H603P	probably damaging	Het
Serpini1	T	C	3: 75,520,544 (GRCm39)	L47P	probably damaging	Het
Sorbs2	T	A	8: 46,248,686 (GRCm39)	S646T	possibly damaging	Het
Spdye4a	T	A	5: 143,210,754 (GRCm39)	E105D	probably benign	Het
Srsf12	G	A	4: 33,231,181 (GRCm39)	C230Y	possibly damaging	Het
Stard9	A	T	2: 120,531,595 (GRCm39)	R2617S	probably benign	Het
Tas2r118	G	T	6: 23,969,344 (GRCm39)	T239K	probably damaging	Het
Tlr1	A	G	5: 65,084,094 (GRCm39)	L161P	probably benign	Het
Ttc21a	T	G	9: 119,772,977 (GRCm39)	V218G	possibly damaging	Het
Ttc6	T	C	12: 57,784,492 (GRCm39)	S1854P	probably benign	Het
Unc93a	A	G	17: 13,341,852 (GRCm39)	L93P	probably damaging	Het
Vcan	A	T	13: 89,839,217 (GRCm39)	I2109N	probably benign	Het
Vmn1r225	A	T	17: 20,723,419 (GRCm39)	S287C	probably damaging	Het
Vmn1r43	A	G	6: 89,847,321 (GRCm39)	F55S	probably damaging	Het
Zfp772	T	C	7: 7,208,518 (GRCm39)	T109A	possibly damaging	Het
Zfp87	A	G	13: 74,520,599 (GRCm39)	Y160H	probably damaging	Het

Other mutations in Dis3l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Dis3l2	APN	1	86,784,925 (GRCm39)	missense	probably benign	0.00
IGL01607:Dis3l2	APN	1	86,673,209 (GRCm39)	missense	probably benign	0.04
IGL02233:Dis3l2	APN	1	86,917,953 (GRCm39)	missense	probably damaging	1.00
IGL02698:Dis3l2	APN	1	86,976,551 (GRCm39)	splice site	probably benign
R0514:Dis3l2	UTSW	1	86,974,814 (GRCm39)	missense	probably damaging	1.00
R0893:Dis3l2	UTSW	1	86,971,928 (GRCm39)	splice site	probably null
R1086:Dis3l2	UTSW	1	86,917,871 (GRCm39)	missense	probably benign	0.36
R1140:Dis3l2	UTSW	1	86,749,160 (GRCm39)	missense	probably benign	0.00
R1509:Dis3l2	UTSW	1	86,948,808 (GRCm39)	missense	possibly damaging	0.91
R2029:Dis3l2	UTSW	1	86,782,189 (GRCm39)	splice site	probably benign
R2511:Dis3l2	UTSW	1	86,917,980 (GRCm39)	missense	probably benign	0.05
R3772:Dis3l2	UTSW	1	86,782,130 (GRCm39)	missense	probably benign
R4163:Dis3l2	UTSW	1	86,748,959 (GRCm39)	missense	probably benign	0.00
R4547:Dis3l2	UTSW	1	86,977,393 (GRCm39)	missense	probably benign	0.00
R4548:Dis3l2	UTSW	1	86,977,393 (GRCm39)	missense	probably benign	0.00
R4650:Dis3l2	UTSW	1	86,918,043 (GRCm39)	missense	possibly damaging	0.83
R4810:Dis3l2	UTSW	1	86,975,296 (GRCm39)	missense	probably damaging	0.99
R4936:Dis3l2	UTSW	1	86,971,890 (GRCm39)	missense	probably benign	0.00
R5010:Dis3l2	UTSW	1	86,688,043 (GRCm39)	missense	probably benign	0.21
R5040:Dis3l2	UTSW	1	86,785,059 (GRCm39)	missense	probably damaging	0.98
R5272:Dis3l2	UTSW	1	86,901,126 (GRCm39)	missense	possibly damaging	0.72
R5500:Dis3l2	UTSW	1	86,948,841 (GRCm39)	critical splice donor site	probably null
R5556:Dis3l2	UTSW	1	86,901,126 (GRCm39)	missense	possibly damaging	0.72
R5772:Dis3l2	UTSW	1	86,806,154 (GRCm39)	missense	probably damaging	1.00
R5808:Dis3l2	UTSW	1	86,977,360 (GRCm39)	missense	possibly damaging	0.94
R5950:Dis3l2	UTSW	1	86,948,830 (GRCm39)	missense	probably damaging	0.96
R6328:Dis3l2	UTSW	1	86,782,153 (GRCm39)	missense	probably benign	0.05
R6553:Dis3l2	UTSW	1	86,673,216 (GRCm39)	missense	probably damaging	1.00
R6585:Dis3l2	UTSW	1	86,673,216 (GRCm39)	missense	probably damaging	1.00
R6905:Dis3l2	UTSW	1	86,972,561 (GRCm39)	missense	probably benign	0.00
R6921:Dis3l2	UTSW	1	86,785,063 (GRCm39)	missense	probably benign
R7162:Dis3l2	UTSW	1	86,971,752 (GRCm39)	missense	possibly damaging	0.94
R7270:Dis3l2	UTSW	1	86,918,025 (GRCm39)	missense	possibly damaging	0.49
R7438:Dis3l2	UTSW	1	86,673,222 (GRCm39)	critical splice donor site	probably null
R8422:Dis3l2	UTSW	1	86,782,099 (GRCm39)	missense	probably benign
R9235:Dis3l2	UTSW	1	86,749,061 (GRCm39)	missense	possibly damaging	0.95
R9291:Dis3l2	UTSW	1	86,901,215 (GRCm39)	missense	possibly damaging	0.82
R9629:Dis3l2	UTSW	1	86,974,784 (GRCm39)	missense	probably benign	0.00
X0027:Dis3l2	UTSW	1	86,688,073 (GRCm39)	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