Mutagenetix > Incidental Mutations

Incidental Mutation 'R8422:Dis3l2'

653231

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: 0.342) question?

Stock #

R8422 (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 G at 86854377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 219 (T219A)

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: T205A

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

SMART Domains

Protein: ENSMUSP00000070506
Gene: ENSMUSG00000053333
AA Change: T205A

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: T219A

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

SMART Domains

Protein: ENSMUSP00000132673
Gene: ENSMUSG00000053333
AA Change: T219A

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: 99.7%
20x: 99.2%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,662,297	S570R	possibly damaging	Het
4921517D22Rik	T	C	13: 59,691,629	M1V	probably null	Het
4921524J17Rik	T	G	8: 85,412,289	K57T	possibly damaging	Het
4930596D02Rik	G	T	14: 35,810,052	Q189K	probably benign	Het
Anapc1	T	C	2: 128,675,837	T296A	probably benign	Het
Aqp7	T	A	4: 41,035,622	M78L	probably benign	Het
C1qtnf5	C	A	9: 44,108,664	A195E	possibly damaging	Het
Calhm2	T	C	19: 47,133,140	I197V	probably benign	Het
Ccdc186	G	A	19: 56,813,185	L167F	probably benign	Het
Ccr3	T	C	9: 124,028,762	Y45H	probably damaging	Het
Cct3	G	C	3: 88,300,819	R38P	probably damaging	Het
Clstn2	T	C	9: 97,458,186	D711G	probably benign	Het
Dab2ip	T	A	2: 35,707,755	I157N	probably damaging	Het
Dchs2	T	C	3: 83,325,263	V2185A	probably benign	Het
F2rl3	G	T	8: 72,763,185	V347L	probably benign	Het
Fastkd1	A	G	2: 69,702,434	S530P	probably damaging	Het
Fgfr3	T	A	5: 33,734,905	Y689*	probably null	Het
Gm10521	A	G	1: 171,896,459	I112M	unknown	Het
Gm9736	C	A	10: 77,750,880	V159F	unknown	Het
Hba-x	A	T	11: 32,277,736	H88L	probably benign	Het
Il12rb2	A	T	6: 67,360,816	V27E	probably benign	Het
Imp4	G	T	1: 34,443,916	G196V	probably damaging	Het
Itga11	A	C	9: 62,767,678	I831L	probably benign	Het
Macf1	C	T	4: 123,409,486	V408I	possibly damaging	Het
Nedd4	T	A	9: 72,742,682	D771E	probably damaging	Het
Noc3l	T	C	19: 38,807,103	Y413C	probably benign	Het
Npas3	C	A	12: 54,068,509	T738K	probably benign	Het
Ntrk2	A	T	13: 58,985,901	D498V	probably damaging	Het
Nyap1	T	C	5: 137,735,821	T317A	probably benign	Het
Olfr1212	T	C	2: 88,958,997	M177T	probably benign	Het
Olfr294	T	A	7: 86,616,258	H129L	probably benign	Het
Olfr74	T	A	2: 87,973,799	I289L	probably benign	Het
Olfr978	T	C	9: 39,994,554	L248P	probably damaging	Het
Pcdhb20	A	T	18: 37,504,796	D125V	probably damaging	Het
Phc3	G	A	3: 30,929,890	Q692*	probably null	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Ppp1r12a	T	A	10: 108,241,181	H339Q	probably benign	Het
Ppp1r3a	G	A	6: 14,718,435	Q827*	probably null	Het
Ptpra	T	A	2: 130,532,171	I265N	possibly damaging	Het
Rabggta	G	T	14: 55,718,458	H447Q	probably benign	Het
Ralgps1	T	C	2: 33,172,430	D277G	possibly damaging	Het
Riok3	A	T	18: 12,136,812	E100V	probably null	Het
Rtcb	C	T	10: 85,943,304	V362M	probably benign	Het
Scd2	G	T	19: 44,301,304	C246F	probably benign	Het
Slco6c1	T	C	1: 97,125,783	E131G	probably damaging	Het
Tanc2	A	G	11: 105,835,188	M393V	probably benign	Het
Tas2r136	A	T	6: 132,777,327	I279N	probably damaging	Het
Tbx3	G	T	5: 119,680,516	K405N	possibly damaging	Het
Thumpd2	A	T	17: 81,026,944	V405D	probably damaging	Het
Tlr12	A	G	4: 128,616,634	S608P	probably damaging	Het
Wfs1	T	C	5: 36,973,875	K165E	probably benign	Het
Zfp810	C	A	9: 22,283,222	E57*	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
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
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

PCR Primer
(F):5'- TGGCCTTATCCAAACCACTG -3'
(R):5'- GGTCCTACACCTGAAGATGC -3'

Sequencing Primer
(F):5'- TGCCCAACAGCTGCCTCTG -3'
(R):5'- AGTTACAGAAATCCTATCCATTTCCC -3'

Posted On

2020-10-20