Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02650:Dis3'

302107

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dis3

Ensembl Gene

ENSMUSG00000033166

Gene Name

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

Synonyms

2810028N01Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02650

Quality Score

Status

Chromosome

Chromosomal Location

99075206-99099770 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99098785 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 95 (M95K)

Ref Sequence

ENSEMBL: ENSMUSP00000154479 (fasta)

Gene Model

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

AlphaFold

Q9CSH3

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: M95K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000041906
Gene: ENSMUSG00000033166
AA Change: M95K

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

probably benign
Transcript: ENSMUST00000227022

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: M95K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,741,537	T586A	probably benign	Het
Acads	G	T	5: 115,112,815	T141N	probably benign	Het
Ankmy1	C	T	1: 92,881,023	R721H	probably damaging	Het
Appl1	A	G	14: 26,950,708	V236A	possibly damaging	Het
Arhgef5	C	T	6: 43,272,935	Q207*	probably null	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Atp6v0a2	G	T	5: 124,712,362		probably benign	Het
Cenpf	T	C	1: 189,652,473	K2537E	possibly damaging	Het
Cox7a1	A	T	7: 30,185,137	E32V	possibly damaging	Het
Dnah5	A	T	15: 28,289,047		probably benign	Het
Dock10	T	A	1: 80,574,123	Y665F	probably damaging	Het
Ghsr	A	T	3: 27,374,855	Q343L	probably benign	Het
Gm3252	T	A	14: 4,746,353	V215E	probably damaging	Het
Gm9979	A	G	13: 40,705,749		noncoding transcript	Het
Grik2	A	T	10: 49,101,235	M867K	probably benign	Het
Grm7	A	G	6: 111,358,958	T777A	probably damaging	Het
Hc	T	A	2: 35,000,874	Q1310L	possibly damaging	Het
Ifi44	A	G	3: 151,745,855	F205L	probably damaging	Het
Igkv4-86	T	C	6: 68,910,633	I40V	probably benign	Het
Jag1	T	C	2: 137,115,585	D69G	possibly damaging	Het
Lrch1	T	C	14: 74,813,698	D333G	probably damaging	Het
Mapre3	T	A	5: 30,864,709	I187N	probably damaging	Het
Myo15b	T	C	11: 115,886,511		probably null	Het
Nanos2	C	T	7: 18,987,869	P89S	probably damaging	Het
Olfr1214	T	A	2: 88,988,080	M41L	probably benign	Het
Parp16	G	A	9: 65,233,816	V223I	probably damaging	Het
Rnf123	A	G	9: 108,069,748	M231T	probably benign	Het
Suco	C	A	1: 161,848,753		probably benign	Het
Synj1	G	T	16: 90,976,696	T459N	probably benign	Het
Taf4b	C	T	18: 14,841,983	Q732*	probably null	Het
Tas2r102	A	G	6: 132,762,210	N27S	probably null	Het
Tctex1d1	C	A	4: 102,988,606	Q12K	probably benign	Het
Tll1	C	T	8: 64,046,997		probably benign	Het
Vmn1r168	A	G	7: 23,541,491	I258V	probably benign	Het
Vmn2r71	T	A	7: 85,624,327	M783K	probably damaging	Het
Vmn2r98	G	A	17: 19,080,961	V742I	probably benign	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
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
R5273:Dis3	UTSW	14	99098806	missense	probably benign	0.32
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
R8957:Dis3	UTSW	14	99099591	missense	probably damaging	1.00
R9072:Dis3	UTSW	14	99095211	missense	probably benign	0.44
R9073:Dis3	UTSW	14	99095211	missense	probably benign	0.44
R9345:Dis3	UTSW	14	99081378	missense	probably damaging	1.00
R9542:Dis3	UTSW	14	99079539	missense	probably damaging	1.00

Posted On

2015-04-16