Mutagenetix > Incidental Mutation

Incidental Mutation 'R5950:Dis3l2'

472362

Institutional Source

Beutler Lab

Gene Symbol

Dis3l2

Ensembl Gene

ENSMUSG00000053333

Gene Name

DIS3 like 3'-5' exoribonuclease 2

Synonyms

8030493P09Rik, 4930429A22Rik

MMRRC Submission

044140-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.357) question?

Stock #

R5950 (G1)

Quality Score

151

Status

Validated

Chromosome

Chromosomal Location

86631530-86977817 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86948830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 589 (D589G)

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: D575G

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000070506
Gene: ENSMUSG00000053333
AA Change: D575G

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 damaging
Transcript: ENSMUST00000168237
AA Change: D589G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132673
Gene: ENSMUSG00000053333
AA Change: D589G

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: ENSMUST00000185304

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

93% (75/81)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	G	A	7: 119,981,879 (GRCm39)	G1065R	probably damaging	Het
Acox2	A	T	14: 8,255,793 (GRCm38)	Y113N	probably benign	Het
Arid4b	T	A	13: 14,365,849 (GRCm39)		probably benign	Het
Atf6	C	T	1: 170,662,448 (GRCm39)	G271R	probably damaging	Het
Bnip5	T	A	17: 29,124,729 (GRCm39)	Q256L	possibly damaging	Het
Cct8l1	C	A	5: 25,722,741 (GRCm39)	F485L	probably benign	Het
Cdk5r2	A	G	1: 74,894,561 (GRCm39)	E102G	probably damaging	Het
Celsr1	A	T	15: 85,916,701 (GRCm39)	V424E	probably damaging	Het
Ces1h	T	C	8: 94,089,587 (GRCm39)	T271A	probably benign	Het
Cfap44	T	C	16: 44,300,210 (GRCm39)	I1738T	probably damaging	Het
Cntnap3	G	A	13: 64,935,583 (GRCm39)	L427F	probably damaging	Het
Crybg3	T	C	16: 59,313,934 (GRCm39)		probably benign	Het
Dlg1	A	G	16: 31,484,401 (GRCm39)	R10G	probably damaging	Het
Dnajc1	A	C	2: 18,311,752 (GRCm39)		probably benign	Het
Dpy19l2	T	A	9: 24,492,430 (GRCm39)	T723S	probably benign	Het
Dsg3	A	T	18: 20,671,586 (GRCm39)	N764Y	probably damaging	Het
Dst	G	T	1: 34,301,141 (GRCm39)	R3654L	probably damaging	Het
Dynlt5	T	G	4: 102,861,447 (GRCm39)	L147R	probably damaging	Het
Evl	C	T	12: 108,641,812 (GRCm39)	T198I	probably benign	Het
Hectd2	A	G	19: 36,574,639 (GRCm39)		probably benign	Het
Hsp90b1	A	G	10: 86,537,609 (GRCm39)	V232A	possibly damaging	Het
Igsf5	T	C	16: 96,174,072 (GRCm39)	V34A	probably benign	Het
Ikzf2	A	T	1: 69,722,403 (GRCm39)	N41K	probably damaging	Het
Kif6	G	T	17: 50,022,116 (GRCm39)	A339S	probably damaging	Het
Klhl1	T	A	14: 96,477,790 (GRCm39)	D426V	probably damaging	Het
Knop1	A	C	7: 118,452,557 (GRCm39)	V54G	probably damaging	Het
Lama4	T	A	10: 38,906,444 (GRCm39)	V270D	probably benign	Het
Lnx2	A	G	5: 146,961,160 (GRCm39)		probably null	Het
Lrp5	A	T	19: 3,652,333 (GRCm39)	V1179E	probably benign	Het
Lrpprc	T	G	17: 85,047,598 (GRCm39)	D878A	possibly damaging	Het
Lrrc14	A	T	15: 76,599,510 (GRCm39)		probably benign	Het
Ltbp1	A	T	17: 75,580,865 (GRCm39)	D660V	probably damaging	Het
Macf1	C	G	4: 123,333,229 (GRCm39)		probably null	Het
Map3k21	C	A	8: 126,668,499 (GRCm39)	T695K	possibly damaging	Het
Mcm3ap	T	A	10: 76,324,253 (GRCm39)	D895E	possibly damaging	Het
Mink1	T	A	11: 70,500,412 (GRCm39)	D779E	possibly damaging	Het
Mkrn3	T	C	7: 62,069,467 (GRCm39)	E108G	probably damaging	Het
Mtcl3	T	C	10: 29,019,644 (GRCm39)		probably benign	Het
Nars1	A	G	18: 64,643,556 (GRCm39)	V141A	possibly damaging	Het
Or8g34	T	C	9: 39,373,633 (GRCm39)	V299A	probably benign	Het
Pard3b	T	A	1: 62,255,690 (GRCm39)	Y572N	probably benign	Het
Pcnx3	A	C	19: 5,717,186 (GRCm39)	M1599R	possibly damaging	Het
Pitx2	A	G	3: 129,012,169 (GRCm39)	S180G	probably damaging	Het
Pkd2l1	A	C	19: 44,140,529 (GRCm39)	V608G	probably benign	Het
Pkhd1l1	A	G	15: 44,396,361 (GRCm39)	D1961G	probably benign	Het
Pxylp1	T	C	9: 96,721,179 (GRCm39)	T109A	probably damaging	Het
Rai1	T	A	11: 60,078,419 (GRCm39)	C828S	probably damaging	Het
Ralgapa1	T	A	12: 55,785,050 (GRCm39)	T737S	possibly damaging	Het
Scn11a	A	G	9: 119,640,190 (GRCm39)	V235A	probably damaging	Het
Sfxn1	A	T	13: 54,245,306 (GRCm39)	T134S	probably benign	Het
Skint1	A	G	4: 111,876,532 (GRCm39)	Y151C	probably benign	Het
Slc11a1	G	T	1: 74,416,335 (GRCm39)	W54L	probably benign	Het
Slc49a3	A	T	5: 108,593,351 (GRCm39)	H162Q	probably damaging	Het
Synpo2l	T	A	14: 20,716,003 (GRCm39)	Q191L	probably benign	Het
Tank	A	G	2: 61,483,913 (GRCm39)		probably benign	Het
Terb1	A	T	8: 105,215,117 (GRCm39)		probably null	Het
Trdc	T	C	14: 54,381,768 (GRCm39)		probably benign	Het
Tsen34	A	G	7: 3,697,787 (GRCm39)	I63V	probably null	Het
Ust	T	C	10: 8,123,865 (GRCm39)	H257R	probably benign	Het
Vmn2r6	T	C	3: 64,472,652 (GRCm39)	Q23R	probably benign	Het
Wdr93	A	T	7: 79,423,179 (GRCm39)	H481L	probably damaging	Het
Xirp2	A	G	2: 67,341,664 (GRCm39)	T1302A	possibly damaging	Het
Zc3h6	C	A	2: 128,839,710 (GRCm39)	Y174*	probably null	Het
Zcchc7	T	G	4: 44,931,244 (GRCm39)	D144E	possibly damaging	Het
Zfp472	T	A	17: 33,196,481 (GRCm39)	H185Q	possibly damaging	Het
Zfp523	C	A	17: 28,421,532 (GRCm39)	P66H	probably benign	Het
Zfp712	A	T	13: 67,192,881 (GRCm39)	L57Q	probably damaging	Het
Zik1	G	A	7: 10,224,498 (GRCm39)	Q200*	probably null	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
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
R8696:Dis3l2	UTSW	1	86,719,162 (GRCm39)	nonsense	probably null
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'- TGGCGTTTCCACAGCACATC -3'
(R):5'- CACCTTCCACAGTGTTTGGC -3'

Sequencing Primer
(F):5'- ATCCACTGCAGGGAGCTGAC -3'
(R):5'- GGGGTTAAAACTCAGGTCCTTACAC -3'

Posted On

2017-03-31