Mutagenetix > Incidental Mutations

Incidental Mutation 'R7270:Dis3l2'

565199

Institutional Source

Beutler Lab

Gene Symbol

Dis3l2

Ensembl Gene

ENSMUSG00000053333

Gene Name

DIS3 like 3'-5' exoribonuclease 2

Synonyms

4930429A22Rik, 8030493P09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R7270 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86703808-87050095 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86990303 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 558 (D558V)

Ref Sequence

ENSEMBL: ENSMUSP00000132673 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000065694
AA Change: D544V

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000070506
Gene: ENSMUSG00000053333
AA Change: D544V

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

possibly damaging
Transcript: ENSMUST00000168237
AA Change: D558V

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132673
Gene: ENSMUSG00000053333
AA Change: D558V

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	A	T	10: 42,425,249	Y193N	probably damaging	Het
Ahnak2	A	T	12: 112,780,802	V70E		Het
Aimp1	T	C	3: 132,677,011	K44E	probably damaging	Het
Arid1b	T	A	17: 4,996,043	Y369N	unknown	Het
Art5	A	T	7: 102,097,873	V233D	probably damaging	Het
Baz2b	T	A	2: 59,962,492	N431Y	possibly damaging	Het
Bik	T	A	15: 83,544,163	F131I	possibly damaging	Het
Bmpr1a	A	G	14: 34,441,125	Y103H	probably damaging	Het
Cabp7	C	T	11: 4,746,676	V18M	possibly damaging	Het
Cacna1a	C	A	8: 84,571,237	T1240N	probably damaging	Het
Cacna1h	A	G	17: 25,384,765	V1311A	probably damaging	Het
Cbarp	A	C	10: 80,137,317	S16A	possibly damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ces2b	A	T	8: 104,837,840	H494L	possibly damaging	Het
Cfap43	T	A	19: 47,739,785	H1511L	possibly damaging	Het
Cfap54	A	G	10: 92,839,458	V2867A	probably benign	Het
Col5a1	C	T	2: 27,997,585	P956L	unknown	Het
Dcakd	T	G	11: 103,000,206	Q19P	possibly damaging	Het
Ddx47	T	A	6: 135,023,338	D432E	probably benign	Het
Dhrs7b	T	C	11: 60,844,229	F29L	probably benign	Het
Dtx3l	T	A	16: 35,933,657	D193V	probably damaging	Het
Epha4	G	A	1: 77,399,785	R486C	probably damaging	Het
Fam186a	T	C	15: 99,944,152	T1404A	possibly damaging	Het
Fat1	A	G	8: 45,037,438	T3796A	probably damaging	Het
Ffar2	A	T	7: 30,819,504	W204R	probably benign	Het
Ftmt	A	G	18: 52,332,019	I136V	probably benign	Het
Gm10300	T	C	4: 132,074,856	W54R	unknown	Het
Gm10518	C	T	1: 179,803,384	P3L	unknown	Het
Gm5788	T	C	12: 87,494,893	L58P	probably damaging	Het
Gm9733	A	T	3: 15,320,644	I66N	probably benign	Het
Grm2	G	A	9: 106,651,058	T209M	probably damaging	Het
Gtdc1	C	T	2: 44,635,310	M176I	probably benign	Het
Insrr	T	C	3: 87,803,133	L382P	probably damaging	Het
Jade2	A	G	11: 51,817,184	V734A	possibly damaging	Het
Kcnh4	C	T	11: 100,747,646	R586H	probably benign	Het
Kdm1a	A	T	4: 136,552,527	D721E	probably damaging	Het
Knl1	G	A	2: 119,102,522	C2054Y	possibly damaging	Het
Lrrk2	C	T	15: 91,700,441	P354S	probably benign	Het
Luzp2	A	G	7: 55,075,026	I112V	probably damaging	Het
Mgl2	T	C	11: 70,135,680	S105P	probably damaging	Het
Mocs1	T	A	17: 49,449,115	M200K	possibly damaging	Het
Oat	T	A	7: 132,567,198	I98L	probably benign	Het
Obscn	T	C	11: 59,029,486	Y8C		Het
Olfr1462	G	A	19: 13,191,404	V246I	possibly damaging	Het
Olfr786	T	G	10: 129,437,450	F213V	probably benign	Het
Pde1b	T	A	15: 103,521,655	M137K	possibly damaging	Het
Phf21a	T	C	2: 92,327,139	I204T	probably damaging	Het
Plcd4	A	G	1: 74,554,679	E321G	possibly damaging	Het
Plpp7	C	T	2: 32,095,650		probably benign	Het
Prdm1	A	G	10: 44,441,570	I419T	probably benign	Het
Sec16b	A	T	1: 157,564,462	R855W	probably damaging	Het
Sec16b	G	T	1: 157,564,463	R855M	probably damaging	Het
Sec31b	T	C	19: 44,523,043	T640A	probably benign	Het
Siglec1	T	C	2: 131,081,551	T425A	possibly damaging	Het
Skil	T	C	3: 31,097,175		probably benign	Het
Slc1a5	G	A	7: 16,785,698	V200M	probably damaging	Het
Slc25a12	T	C	2: 71,324,025	H139R	probably benign	Het
Slc25a32	A	T	15: 39,098,235	V187D	probably damaging	Het
Slc35a3	G	A	3: 116,711,806		probably benign	Het
Smap2	C	A	4: 120,972,067	M328I	probably benign	Het
Spef2	C	T	15: 9,599,980		probably null	Het
Srarp	A	G	4: 141,433,078	V148A	possibly damaging	Het
Stard9	T	A	2: 120,634,274	Y73*	probably null	Het
Tars	A	G	15: 11,392,019	C236R	probably benign	Het
Tchh	G	C	3: 93,444,530	D426H	unknown	Het
Tnks2	T	C	19: 36,859,145	F17S		Het
Ube2g1	T	C	11: 72,663,113	I30T	possibly damaging	Het
Ube2o	C	T	11: 116,543,935	D567N	possibly damaging	Het
Unc5b	A	T	10: 60,772,223	Y710*	probably null	Het
Vmn1r215	T	C	13: 23,075,919	V43A	possibly damaging	Het
Xkr8	A	G	4: 132,728,337	F242L	probably benign	Het
Zfp526	T	A	7: 25,225,920	C535S	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
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
R7438:Dis3l2	UTSW	1	86745500	critical splice donor site	probably null
X0027:Dis3l2	UTSW	1	86760351	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TTGCACCAAACTGAGCTACG -3'
(R):5'- TGGACACAGGTTTTCCAGGTAAG -3'

Sequencing Primer
(F):5'- TGAGCTACGACCATGCCCAG -3'
(R):5'- TTTCCAGGTAAGAGCAGCTG -3'

Posted On

2019-06-26