Mutagenetix > Incidental Mutations

Incidental Mutation 'R5273:Dis3'

403783

Institutional Source

Beutler Lab

Gene Symbol

Dis3

Ensembl Gene

ENSMUSG00000033166

Gene Name

DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease

Synonyms

2810028N01Rik

MMRRC Submission

042862-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99075206-99099770 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99098806 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 88 (V88A)

Ref Sequence

ENSEMBL: ENSMUSP00000154479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022650] [ENSMUST00000042471] [ENSMUST00000227022] [ENSMUST00000228643]

Predicted Effect

probably benign
Transcript: ENSMUST00000022650

SMART Domains

Protein: ENSMUSP00000022650
Gene: ENSMUSG00000022064

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
coiled coil region	58	165	N/A	INTRINSIC
coiled coil region	200	364	N/A	INTRINSIC
coiled coil region	396	444	N/A	INTRINSIC
coiled coil region	474	553	N/A	INTRINSIC
coiled coil region	586	679	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000042471
AA Change: V88A

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000041906
Gene: ENSMUSG00000033166
AA Change: V88A

Domain	Start	End	E-Value	Type
low complexity region	30	47	N/A	INTRINSIC
PINc	64	182	2.8e-24	SMART
low complexity region	425	436	N/A	INTRINSIC
RNB	467	797	5.56e-141	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227001

Predicted Effect

unknown
Transcript: ENSMUST00000227022
AA Change: S111P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228598

Predicted Effect

probably benign
Transcript: ENSMUST00000228643
AA Change: V88A

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,244,341	S2603P	probably damaging	Het
2410089E03Rik	T	C	15: 8,262,938	S3012P	unknown	Het
Abcc4	T	C	14: 118,594,821	N799S	possibly damaging	Het
Arhgap20	A	G	9: 51,848,616	N589S	probably damaging	Het
Armc10	C	T	5: 21,653,428	A157V	possibly damaging	Het
Atp2b2	A	G	6: 113,759,232	L958P	probably damaging	Het
Bhmt2	G	A	13: 93,666,578	A149V	possibly damaging	Het
C77080	T	C	4: 129,224,212	T208A	possibly damaging	Het
Ccdc7a	CATCAGCTGATAT	CAT	8: 129,061,609		probably null	Het
Cntnap4	A	G	8: 112,733,438	D141G	probably damaging	Het
Dnajc21	A	T	15: 10,454,807	C316S	probably damaging	Het
Dnhd1	A	G	7: 105,714,482	T4084A	probably damaging	Het
Dock3	A	C	9: 106,900,705		probably null	Het
Eml5	T	C	12: 98,790,688	H1894R	probably damaging	Het
Galc	T	C	12: 98,252,071	Y174C	probably damaging	Het
Gm4841	C	T	18: 60,270,743	V93I	probably benign	Het
Gm7995	T	C	14: 42,311,456	Y98H	probably damaging	Het
Gnrhr	T	A	5: 86,182,246	H305L	possibly damaging	Het
Gpr179	A	T	11: 97,347,430	F323I	probably damaging	Het
Kdm6b	G	T	11: 69,404,201	P1080Q	unknown	Het
Man2a1	C	T	17: 64,733,785	T126I	probably damaging	Het
Mdm4	G	A	1: 132,994,582	T274M	probably benign	Het
Mug1	T	A	6: 121,873,789	V748E	probably damaging	Het
Nav3	A	T	10: 109,693,038		probably null	Het
Olfr957	A	G	9: 39,511,499	S74P	possibly damaging	Het
Olfr974	T	C	9: 39,942,557	V99A	probably benign	Het
Pcdhb1	T	C	18: 37,265,713	V239A	probably benign	Het
Ppic	T	A	18: 53,409,258	H126L	probably damaging	Het
Sdk1	T	C	5: 141,998,828	F463L	probably damaging	Het
Shroom1	A	G	11: 53,463,844	E197G	possibly damaging	Het
Slc22a14	A	G	9: 119,170,638	S496P	probably benign	Het
Slc27a1	G	A	8: 71,584,256	G379S	probably benign	Het
Slco1a5	T	C	6: 142,242,098	E505G	probably benign	Het
Snrpe	A	C	1: 133,609,780		probably benign	Het
Sp100	G	T	1: 85,709,104	V299F	possibly damaging	Het
Stard9	A	G	2: 120,705,087	S3942G	possibly damaging	Het
Ttn	A	G	2: 76,814,604	V12969A	probably damaging	Het
Txndc11	T	C	16: 11,128,623	Q108R	probably benign	Het
Wnk4	A	T	11: 101,263,869	I295F	probably damaging	Het

Other mutations in Dis3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Dis3	APN	14	99082674	missense	probably damaging	1.00
IGL00821:Dis3	APN	14	99091486	missense	probably benign	0.00
IGL00975:Dis3	APN	14	99079234	missense	probably damaging	1.00
IGL01536:Dis3	APN	14	99079423	missense	probably damaging	1.00
IGL01538:Dis3	APN	14	99097745	missense	probably benign	0.00
IGL02143:Dis3	APN	14	99091318	splice site	probably benign
IGL02270:Dis3	APN	14	99078354	missense	probably benign	0.01
IGL02354:Dis3	APN	14	99079712	nonsense	probably null
IGL02361:Dis3	APN	14	99079712	nonsense	probably null
IGL02650:Dis3	APN	14	99098785	missense	probably benign	0.00
IGL03053:Dis3	APN	14	99098734	missense	probably benign	0.00
IGL03057:Dis3	APN	14	99089990	missense	possibly damaging	0.95
IGL03389:Dis3	APN	14	99095347	splice site	probably benign
R0415:Dis3	UTSW	14	99087456	missense	probably damaging	1.00
R0504:Dis3	UTSW	14	99081390	splice site	probably benign
R1535:Dis3	UTSW	14	99079426	missense	probably damaging	1.00
R1756:Dis3	UTSW	14	99086103	missense	probably damaging	1.00
R1767:Dis3	UTSW	14	99084142	missense	probably damaging	1.00
R1883:Dis3	UTSW	14	99091469	missense	probably benign	0.21
R1938:Dis3	UTSW	14	99097590	missense	probably benign	0.09
R2056:Dis3	UTSW	14	99098815	missense	possibly damaging	0.90
R2133:Dis3	UTSW	14	99079877	missense	probably benign	0.18
R2448:Dis3	UTSW	14	99087412	missense	probably damaging	0.99
R3407:Dis3	UTSW	14	99098776	missense	probably benign	0.15
R4052:Dis3	UTSW	14	99095316	missense	probably benign	0.00
R4207:Dis3	UTSW	14	99095316	missense	probably benign	0.00
R4208:Dis3	UTSW	14	99095316	missense	probably benign	0.00
R4465:Dis3	UTSW	14	99084114	missense	possibly damaging	0.88
R4612:Dis3	UTSW	14	99091435	missense	probably benign	0.07
R4859:Dis3	UTSW	14	99087790	missense	probably damaging	1.00
R4932:Dis3	UTSW	14	99088904	missense	probably damaging	1.00
R5335:Dis3	UTSW	14	99097653	missense	possibly damaging	0.72
R5409:Dis3	UTSW	14	99085932	missense	possibly damaging	0.95
R5802:Dis3	UTSW	14	99099664	missense	probably damaging	1.00
R6156:Dis3	UTSW	14	99098779	missense	probably benign	0.10
R6309:Dis3	UTSW	14	99085922	missense	probably benign	0.00
R7275:Dis3	UTSW	14	99087489	missense	probably damaging	1.00
R7511:Dis3	UTSW	14	99099606	missense	possibly damaging	0.94
R7535:Dis3	UTSW	14	99089979	missense	probably benign	0.15
R7794:Dis3	UTSW	14	99098797	missense	probably benign	0.04
R8013:Dis3	UTSW	14	99077399	missense	possibly damaging	0.50
R8014:Dis3	UTSW	14	99077399	missense	possibly damaging	0.50
R8077:Dis3	UTSW	14	99090035	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGTCTTCCACACAACCAGG -3'
(R):5'- TTTTCTGCAGCCAAGTACCAC -3'

Sequencing Primer
(F):5'- CAGGAAGCTACAGCCTGTGTTTG -3'
(R):5'- TACCACTTTGGCCTAACGGAGAG -3'

Posted On

2016-07-22