Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01328:Xrn2'

74389

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xrn2

Ensembl Gene

ENSMUSG00000027433

Gene Name

5'-3' exoribonuclease 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL01328

Quality Score

Status

Chromosome

Chromosomal Location

147012996-147078000 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 147029930 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 396 (V396A)

Ref Sequence

ENSEMBL: ENSMUSP00000028921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028921]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028921
AA Change: V396A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: V396A

Domain	Start	End	E-Value	Type
Pfam:XRN_N	1	254	1.5e-104	PFAM
ZnF_C2HC	262	278	7.99e-1	SMART
low complexity region	415	427	N/A	INTRINSIC
PDB:3FQD\|A	469	785	8e-75	PDB
low complexity region	913	932	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147057

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 5'-3' exonuclease that promotes transcription termination at cotranscriptional cleavage sites. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	C	T	18: 59,048,882	S1131F	possibly damaging	Het
Alg14	G	A	3: 121,361,583	V151I	probably benign	Het
Ano5	G	A	7: 51,556,271		probably null	Het
Arhgef28	A	T	13: 97,970,323	C698S	probably damaging	Het
Cacnb4	T	C	2: 52,464,625	H247R	probably damaging	Het
Clec12b	A	T	6: 129,379,554	W216R	probably damaging	Het
Clnk	C	T	5: 38,784,528	S35N	possibly damaging	Het
Cnot4	T	A	6: 35,078,114	N80I	probably damaging	Het
Cntn5	C	T	9: 9,781,768	M635I	probably damaging	Het
Dlg5	A	G	14: 24,202,351	V107A	probably damaging	Het
Dsc2	A	T	18: 20,048,286	F155I	probably damaging	Het
Dtwd1	A	G	2: 126,164,819	I254V	probably damaging	Het
Dzip3	A	T	16: 48,972,258	D221E	probably damaging	Het
F13b	T	A	1: 139,508,082		probably benign	Het
Fam131b	G	A	6: 42,318,272	L324F	probably damaging	Het
Fam83a	A	T	15: 57,986,505	R148S	probably damaging	Het
Farsb	T	C	1: 78,471,092	I236V	probably benign	Het
Fat4	T	A	3: 38,980,658	F2820I	probably damaging	Het
Fat4	T	A	3: 38,889,991	V1011E	probably damaging	Het
Fgf7	A	G	2: 126,088,244	E99G	probably damaging	Het
Fign	T	C	2: 63,978,872	T685A	probably damaging	Het
Fubp1	G	A	3: 152,220,218	G289E	probably damaging	Het
Gata6	G	T	18: 11,064,530	M477I	probably damaging	Het
Gm14496	A	G	2: 181,995,880	Y249C	probably damaging	Het
Hectd1	T	C	12: 51,761,121	D1768G	probably damaging	Het
Htatip2	T	A	7: 49,770,949		probably null	Het
Irs2	C	A	8: 11,004,792	Q1213H	probably damaging	Het
Jak3	C	T	8: 71,679,620	R210C	probably damaging	Het
Klk1b27	T	C	7: 44,055,879	S157P	probably damaging	Het
Klri1	T	C	6: 129,698,837	S157G	probably damaging	Het
Mtmr2	G	T	9: 13,801,927	G395*	probably null	Het
Mx1	T	A	16: 97,455,632	I116F	probably damaging	Het
Oip5	A	C	2: 119,611,833	M200R	possibly damaging	Het
Olfr1118	T	A	2: 87,309,581	L284Q	possibly damaging	Het
Olfr1285	A	G	2: 111,409,219	Y268C	probably damaging	Het
Olfr1512	T	C	14: 52,372,510	D181G	probably damaging	Het
Olfr32	T	C	2: 90,139,074	K22E	probably benign	Het
Pamr1	T	A	2: 102,642,137	S594T	probably benign	Het
Phf13	C	T	4: 151,995,828	E13K	probably benign	Het
Plekha6	A	T	1: 133,272,336		probably null	Het
Rad17	A	C	13: 100,617,803	N636K	probably benign	Het
Rad21	T	A	15: 51,973,124	D217V	probably damaging	Het
Slc7a10	A	G	7: 35,186,492	D4G	possibly damaging	Het
Stc1	A	G	14: 69,038,277	D173G	probably benign	Het
Supt16	C	T	14: 52,177,032	E438K	probably benign	Het
Tex15	C	T	8: 33,571,396	Q559*	probably null	Het
Trim44	T	A	2: 102,400,020	E222V	probably benign	Het
Ubr5	T	C	15: 37,981,523	E2343G	possibly damaging	Het
Vmn2r86	T	C	10: 130,452,496	T379A	possibly damaging	Het
Vmn2r93	A	G	17: 18,325,557	T564A	probably benign	Het
Vsir	C	A	10: 60,367,760		probably benign	Het
Vwc2l	T	A	1: 70,729,004		probably null	Het
Zbbx	T	A	3: 75,093,075	K208*	probably null	Het
Zfhx4	C	A	3: 5,244,284	L857M	probably damaging	Het
Zfp180	A	G	7: 24,101,479	D53G	probably benign	Het

Other mutations in Xrn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Xrn2	APN	2	147036750	missense	probably benign	0.00
IGL00950:Xrn2	APN	2	147028146	nonsense	probably null
IGL01323:Xrn2	APN	2	147034847	splice site	probably benign
IGL01545:Xrn2	APN	2	147038179	missense	probably benign
IGL01729:Xrn2	APN	2	147036797	critical splice donor site	probably null
IGL01805:Xrn2	APN	2	147028143	missense	probably damaging	0.98
IGL02326:Xrn2	APN	2	147047713	missense	probably benign	0.32
IGL02332:Xrn2	APN	2	147026590	missense	probably damaging	1.00
IGL02556:Xrn2	APN	2	147038296	splice site	probably benign
IGL02609:Xrn2	APN	2	147050025	missense	probably benign	0.00
IGL02941:Xrn2	APN	2	147026524	missense	probably damaging	1.00
IGL03119:Xrn2	APN	2	147042872	missense	probably damaging	1.00
R0052:Xrn2	UTSW	2	147040965	splice site	probably benign
R0114:Xrn2	UTSW	2	147029779	missense	probably damaging	0.98
R0196:Xrn2	UTSW	2	147047660	missense	probably damaging	0.99
R0799:Xrn2	UTSW	2	147029898	missense	probably benign	0.03
R0991:Xrn2	UTSW	2	147042082	missense	probably benign	0.40
R1444:Xrn2	UTSW	2	147061488	missense	probably damaging	0.99
R1727:Xrn2	UTSW	2	147061516	missense	probably benign	0.00
R1735:Xrn2	UTSW	2	147061423	missense	probably damaging	1.00
R1885:Xrn2	UTSW	2	147049361	nonsense	probably null
R2199:Xrn2	UTSW	2	147024750	missense	probably damaging	0.96
R2884:Xrn2	UTSW	2	147047656	missense	probably damaging	1.00
R3730:Xrn2	UTSW	2	147024809	missense	probably benign	0.09
R3771:Xrn2	UTSW	2	147061287	missense	probably benign	0.12
R3772:Xrn2	UTSW	2	147061287	missense	probably benign	0.12
R3773:Xrn2	UTSW	2	147061287	missense	probably benign	0.12
R3816:Xrn2	UTSW	2	147028200	missense	probably damaging	1.00
R3927:Xrn2	UTSW	2	147038189	missense	probably benign
R4173:Xrn2	UTSW	2	147047692	missense	probably damaging	0.96
R4659:Xrn2	UTSW	2	147061474	missense	probably benign	0.01
R4928:Xrn2	UTSW	2	147051718	missense	possibly damaging	0.80
R5452:Xrn2	UTSW	2	147024713	critical splice acceptor site	probably null
R5527:Xrn2	UTSW	2	147029755	missense	probably benign	0.02
R6297:Xrn2	UTSW	2	147026570	missense	probably damaging	1.00
R6301:Xrn2	UTSW	2	147063342	missense	probably benign	0.05
R6316:Xrn2	UTSW	2	147042010	missense	probably damaging	1.00
R6705:Xrn2	UTSW	2	147036662	critical splice acceptor site	probably null
R7173:Xrn2	UTSW	2	147042093	missense	probably damaging	1.00
R7408:Xrn2	UTSW	2	147042097	critical splice donor site	probably null
R7412:Xrn2	UTSW	2	147049346	missense	probably damaging	0.99
R7501:Xrn2	UTSW	2	147029756	missense	probably damaging	1.00
R7856:Xrn2	UTSW	2	147068473	splice site	probably null
Z1177:Xrn2	UTSW	2	147028206	missense	possibly damaging	0.83

Posted On

2013-10-07