Mutagenetix > Incidental Mutation

Incidental Mutation 'R2029:Dis3l2'

220885

Institutional Source

Beutler Lab

Gene Symbol

Dis3l2

Ensembl Gene

ENSMUSG00000053333

Gene Name

DIS3 like 3'-5' exoribonuclease 2

Synonyms

4930429A22Rik, 8030493P09Rik

MMRRC Submission

040036-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.349) question?

Stock #

R2029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86703808-87050095 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 86854467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139579 (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 benign
Transcript: ENSMUST00000168237

SMART Domains

Protein: ENSMUSP00000132673
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	383	733	8.9e-140	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189044

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (97/99)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	G	T	17: 33,067,624 (GRCm38)	S68*	probably null	Het
9130409I23Rik	T	A	1: 181,054,931 (GRCm38)	I86K	probably benign	Het
Adam18	C	G	8: 24,650,877 (GRCm38)	G286A	probably damaging	Het
Adcy1	G	A	11: 7,139,142 (GRCm38)	A519T	probably benign	Het
AI314180	G	A	4: 58,844,165 (GRCm38)	R534*	probably null	Het
Anxa2	T	A	9: 69,464,480 (GRCm38)	S2T	possibly damaging	Het
Ap3m1	G	A	14: 21,039,149 (GRCm38)	S261L	possibly damaging	Het
Asna1	A	T	8: 85,019,774 (GRCm38)	Y148*	probably null	Het
Baz2b	A	T	2: 59,912,723 (GRCm38)		probably benign	Het
Brdt	T	A	5: 107,359,224 (GRCm38)	S497T	probably benign	Het
Cdh11	A	G	8: 102,679,772 (GRCm38)	F23S	probably benign	Het
Cdh16	A	C	8: 104,617,802 (GRCm38)	L540R	probably damaging	Het
Ces5a	A	T	8: 93,534,577 (GRCm38)	L74Q	probably damaging	Het
Cfap69	A	G	5: 5,604,306 (GRCm38)	S543P	probably damaging	Het
Cfap74	T	C	4: 155,442,081 (GRCm38)	I763T	possibly damaging	Het
Cma1	T	A	14: 55,943,734 (GRCm38)	R58S	possibly damaging	Het
Csmd3	C	T	15: 47,838,579 (GRCm38)	D1599N	probably damaging	Het
Cyld	A	G	8: 88,745,312 (GRCm38)	K857R	probably benign	Het
Cyp3a16	T	C	5: 145,451,857 (GRCm38)	D270G	probably damaging	Het
D1Pas1	T	C	1: 186,968,089 (GRCm38)	S72P	possibly damaging	Het
Ddx3y	T	C	Y: 1,266,389 (GRCm38)	E331G	probably benign	Het
Dopey1	G	T	9: 86,521,365 (GRCm38)	W1539C	probably damaging	Het
Dopey2	A	G	16: 93,769,435 (GRCm38)	K917E	probably benign	Het
Efcab3	T	C	11: 105,100,025 (GRCm38)	I5462T	probably damaging	Het
Epo	A	G	5: 137,485,185 (GRCm38)		probably benign	Het
Figla	T	A	6: 86,020,642 (GRCm38)		probably benign	Het
Flvcr1	T	C	1: 191,021,156 (GRCm38)	D273G	probably benign	Het
Fryl	T	A	5: 73,022,122 (GRCm38)	R304*	probably null	Het
Gcm1	T	G	9: 78,065,044 (GRCm38)	D422E	possibly damaging	Het
Ggt6	A	G	11: 72,437,541 (GRCm38)	D251G	possibly damaging	Het
Git2	A	G	5: 114,766,450 (GRCm38)		probably null	Het
Gm18856	A	T	13: 13,964,791 (GRCm38)		probably benign	Het
Gm20939	T	A	17: 94,875,824 (GRCm38)		probably benign	Het
Gm5039	A	T	12: 88,321,421 (GRCm38)	S21T	unknown	Het
Gm7534	T	C	4: 134,202,358 (GRCm38)	K212R	possibly damaging	Het
Gpr176	A	G	2: 118,279,432 (GRCm38)	Y449H	probably benign	Het
H2-Eb1	A	G	17: 34,314,392 (GRCm38)	E196G	probably damaging	Het
H2-M10.6	A	G	17: 36,813,907 (GRCm38)	T239A	possibly damaging	Het
Haus5	T	C	7: 30,659,400 (GRCm38)	N237S	possibly damaging	Het
Hectd3	T	C	4: 117,000,685 (GRCm38)	M605T	probably damaging	Het
Hps3	T	C	3: 20,030,527 (GRCm38)	I166V	probably benign	Het
Ighv5-21	A	T	12: 114,322,814 (GRCm38)		probably benign	Het
Kdm6b	C	T	11: 69,403,592 (GRCm38)	G1218D	unknown	Het
Klhl30	A	G	1: 91,357,914 (GRCm38)		probably null	Het
Kmt2a	A	T	9: 44,818,450 (GRCm38)	S3523R	probably benign	Het
Lnpep	A	T	17: 17,568,399 (GRCm38)	N481K	probably damaging	Het
Lrp1b	T	C	2: 41,341,849 (GRCm38)	H1203R	probably benign	Het
Lrrc8a	C	T	2: 30,256,649 (GRCm38)	R492W	probably damaging	Het
Magel2	T	A	7: 62,380,594 (GRCm38)	V1082D	unknown	Het
Memo1	A	C	17: 74,245,054 (GRCm38)	H82Q	probably null	Het
Myh13	A	T	11: 67,361,289 (GRCm38)	T1408S	probably benign	Het
Myh2	A	T	11: 67,194,625 (GRCm38)	N1792Y	possibly damaging	Het
Myo1e	A	T	9: 70,368,687 (GRCm38)	N728I	possibly damaging	Het
Myo1e	T	C	9: 70,378,715 (GRCm38)		probably benign	Het
Myo5c	T	C	9: 75,289,055 (GRCm38)		probably benign	Het
Olfr1205	T	A	2: 88,831,405 (GRCm38)	M96K	possibly damaging	Het
Olfr323	T	A	11: 58,625,493 (GRCm38)	L184F	probably damaging	Het
Olfr378	A	G	11: 73,425,362 (GRCm38)	V207A	probably benign	Het
Olfr578	T	A	7: 102,984,271 (GRCm38)	T298S	probably damaging	Het
Olfr594	T	C	7: 103,219,760 (GRCm38)	F14S	probably damaging	Het
Olfr715b	T	C	7: 107,106,436 (GRCm38)	I142V	probably benign	Het
Parp2	C	T	14: 50,810,086 (GRCm38)	A18V	probably benign	Het
Peli1	T	A	11: 21,148,110 (GRCm38)	C282S	probably damaging	Het
Piezo2	T	C	18: 63,118,935 (GRCm38)	M404V	possibly damaging	Het
Pkn1	T	A	8: 83,677,963 (GRCm38)	Q496L	possibly damaging	Het
Pla2r1	A	T	2: 60,431,973 (GRCm38)	F1093L	probably damaging	Het
Ppp2r3a	A	G	9: 101,145,481 (GRCm38)	V323A	probably damaging	Het
Pramef25	T	A	4: 143,949,883 (GRCm38)	Y217F	probably benign	Het
Prg2	C	T	2: 84,981,998 (GRCm38)		probably benign	Het
Ptprb	G	A	10: 116,347,053 (GRCm38)	G1545S	probably benign	Het
Rbm19	A	G	5: 120,120,242 (GRCm38)	D174G	possibly damaging	Het
Rhbdf2	T	A	11: 116,601,148 (GRCm38)	T526S	probably damaging	Het
Rpusd4	A	G	9: 35,268,014 (GRCm38)	N42S	probably benign	Het
Ryr3	T	A	2: 112,647,016 (GRCm38)	Q4455L	possibly damaging	Het
Sema4a	G	T	3: 88,451,361 (GRCm38)	H30Q	probably damaging	Het
Skint1	G	A	4: 112,021,456 (GRCm38)		probably null	Het
Slc1a3	A	G	15: 8,645,669 (GRCm38)	V284A	probably benign	Het
Slc30a9	A	T	5: 67,339,975 (GRCm38)	K288*	probably null	Het
Slc36a1	G	T	11: 55,228,338 (GRCm38)	A380S	probably benign	Het
Slc47a1	G	A	11: 61,378,007 (GRCm38)		probably benign	Het
Snx19	A	T	9: 30,429,000 (GRCm38)	E478V	probably benign	Het
Spag6	T	C	2: 18,734,105 (GRCm38)		probably benign	Het
Stag1	A	T	9: 100,786,687 (GRCm38)	T223S	probably damaging	Het
Terb1	A	T	8: 104,498,100 (GRCm38)		probably benign	Het
Terf1	A	G	1: 15,805,946 (GRCm38)	D90G	possibly damaging	Het
Tex15	A	G	8: 33,571,274 (GRCm38)	D518G	probably damaging	Het
Tmem174	T	A	13: 98,637,038 (GRCm38)	M95L	possibly damaging	Het
Tnnt3	GTCCAGGCATCTC	GTC	7: 142,512,627 (GRCm38)		probably benign	Het
Usp28	A	G	9: 48,985,503 (GRCm38)	D8G	probably benign	Het
Vmn2r105	T	C	17: 20,224,578 (GRCm38)	T551A	probably damaging	Het
Vmn2r107	A	G	17: 20,375,287 (GRCm38)	I701V	probably benign	Het
Vmn2r13	A	C	5: 109,192,077 (GRCm38)	F11V	probably benign	Het
Vmn2r85	G	C	10: 130,425,574 (GRCm38)	S298*	probably null	Het
Wdr6	C	G	9: 108,575,355 (GRCm38)	W443S	probably damaging	Het
Wipi1	A	G	11: 109,583,190 (GRCm38)	V210A	probably damaging	Het
Zfp317	A	G	9: 19,645,236 (GRCm38)	T47A	probably benign	Het
Zfp61	T	C	7: 24,292,289 (GRCm38)	T146A	probably benign	Het
Zfp964	A	G	8: 69,663,917 (GRCm38)	E389G	unknown	Het
Zfyve16	T	C	13: 92,504,477 (GRCm38)	D1253G	probably damaging	Het
Zswim7	G	A	11: 62,267,473 (GRCm38)		probably benign	Het

Other mutations in Dis3l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Dis3l2	APN	1	86,857,203 (GRCm38)	missense	probably benign	0.00
IGL01607:Dis3l2	APN	1	86,745,487 (GRCm38)	missense	probably benign	0.04
IGL02233:Dis3l2	APN	1	86,990,231 (GRCm38)	missense	probably damaging	1.00
IGL02698:Dis3l2	APN	1	87,048,829 (GRCm38)	splice site	probably benign
R0514:Dis3l2	UTSW	1	87,047,092 (GRCm38)	missense	probably damaging	1.00
R0893:Dis3l2	UTSW	1	87,044,206 (GRCm38)	splice site	probably null
R1086:Dis3l2	UTSW	1	86,990,149 (GRCm38)	missense	probably benign	0.36
R1140:Dis3l2	UTSW	1	86,821,438 (GRCm38)	missense	probably benign	0.00
R1509:Dis3l2	UTSW	1	87,021,086 (GRCm38)	missense	possibly damaging	0.91
R2511:Dis3l2	UTSW	1	86,990,258 (GRCm38)	missense	probably benign	0.05
R3772:Dis3l2	UTSW	1	86,854,408 (GRCm38)	missense	probably benign
R4163:Dis3l2	UTSW	1	86,821,237 (GRCm38)	missense	probably benign	0.00
R4547:Dis3l2	UTSW	1	87,049,671 (GRCm38)	missense	probably benign	0.00
R4548:Dis3l2	UTSW	1	87,049,671 (GRCm38)	missense	probably benign	0.00
R4650:Dis3l2	UTSW	1	86,990,321 (GRCm38)	missense	possibly damaging	0.83
R4810:Dis3l2	UTSW	1	87,047,574 (GRCm38)	missense	probably damaging	0.99
R4936:Dis3l2	UTSW	1	87,044,168 (GRCm38)	missense	probably benign	0.00
R5010:Dis3l2	UTSW	1	86,760,321 (GRCm38)	missense	probably benign	0.21
R5040:Dis3l2	UTSW	1	86,857,337 (GRCm38)	missense	probably damaging	0.98
R5272:Dis3l2	UTSW	1	86,973,404 (GRCm38)	missense	possibly damaging	0.72
R5500:Dis3l2	UTSW	1	87,021,119 (GRCm38)	critical splice donor site	probably null
R5556:Dis3l2	UTSW	1	86,973,404 (GRCm38)	missense	possibly damaging	0.72
R5772:Dis3l2	UTSW	1	86,878,432 (GRCm38)	missense	probably damaging	1.00
R5808:Dis3l2	UTSW	1	87,049,638 (GRCm38)	missense	possibly damaging	0.94
R5950:Dis3l2	UTSW	1	87,021,108 (GRCm38)	missense	probably damaging	0.96
R6328:Dis3l2	UTSW	1	86,854,431 (GRCm38)	missense	probably benign	0.05
R6553:Dis3l2	UTSW	1	86,745,494 (GRCm38)	missense	probably damaging	1.00
R6585:Dis3l2	UTSW	1	86,745,494 (GRCm38)	missense	probably damaging	1.00
R6905:Dis3l2	UTSW	1	87,044,839 (GRCm38)	missense	probably benign	0.00
R6921:Dis3l2	UTSW	1	86,857,341 (GRCm38)	missense	probably benign
R7162:Dis3l2	UTSW	1	87,044,030 (GRCm38)	missense	possibly damaging	0.94
R7270:Dis3l2	UTSW	1	86,990,303 (GRCm38)	missense	possibly damaging	0.49
R7438:Dis3l2	UTSW	1	86,745,500 (GRCm38)	critical splice donor site	probably null
R8422:Dis3l2	UTSW	1	86,854,377 (GRCm38)	missense	probably benign
R8696:Dis3l2	UTSW	1	86,791,440 (GRCm38)	nonsense	probably null
R9235:Dis3l2	UTSW	1	86,821,339 (GRCm38)	missense	possibly damaging	0.95
R9291:Dis3l2	UTSW	1	86,973,493 (GRCm38)	missense	possibly damaging	0.82
R9629:Dis3l2	UTSW	1	87,047,062 (GRCm38)	missense	probably benign	0.00
X0027:Dis3l2	UTSW	1	86,760,351 (GRCm38)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TGACCTCCATGAACCTTTCTAG -3'
(R):5'- TGCCACCAAGAGTAAGAGCC -3'

Sequencing Primer
(F):5'- CTCCATGAACCTTTCTAGTGTGAAG -3'
(R):5'- TAAGAGCCAACTGTGTTTGGTCCTAC -3'

Posted On

2014-08-25