Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02609:Xrn2'

300403

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: 0.964) question?

Stock #

IGL02609

Quality Score

Status

Chromosome

Chromosomal Location

147012996-147078000 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 147050025 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 721 (T721S)

Ref Sequence

ENSEMBL: ENSMUSP00000028921 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000028921
AA Change: T721S

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

SMART Domains

Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: T721S

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: ENSMUST00000136136

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	A	T	11: 58,612,616	C29S	probably damaging	Het
A930011G23Rik	A	G	5: 99,233,995		probably benign	Het
Adcy10	T	G	1: 165,538,475	Y520*	probably null	Het
Agrn	A	T	4: 156,175,223		probably benign	Het
AI661453	A	T	17: 47,468,372		probably benign	Het
Arhgap6	A	G	X: 169,178,066		probably benign	Het
Asxl2	T	C	12: 3,500,018	S587P	probably damaging	Het
B3gntl1	A	G	11: 121,644,601		probably benign	Het
Bahcc1	T	C	11: 120,289,398	F2527L	possibly damaging	Het
Baz2b	T	A	2: 59,917,369	M1317L	possibly damaging	Het
Bcas3	A	T	11: 85,457,894	K204I	probably damaging	Het
C1qtnf1	T	C	11: 118,448,004	F167L	probably damaging	Het
Cfap58	C	T	19: 47,975,502	T523M	possibly damaging	Het
Ddb1	T	A	19: 10,622,466	C680S	possibly damaging	Het
Eef1d	T	C	15: 75,896,313	Q200R	probably null	Het
Gm10717	A	T	9: 3,026,287	Y195F	probably damaging	Het
Gm28557	T	A	13: 67,071,019	K214*	probably null	Het
Gm438	T	A	4: 144,779,737	D128V	probably damaging	Het
Gm8229	A	C	14: 44,366,625	E90D	probably benign	Het
Hhla1	T	C	15: 65,930,614		probably benign	Het
Hivep1	C	T	13: 42,155,654	H457Y	probably damaging	Het
Htr2c	T	C	X: 147,193,760		probably benign	Het
Ifi44	A	T	3: 151,732,497	S384R	probably damaging	Het
Impad1	T	A	4: 4,767,763	R338*	probably null	Het
Kirrel2	T	C	7: 30,448,340	T628A	probably benign	Het
Kmt2d	T	C	15: 98,851,793		probably benign	Het
Larp4b	T	A	13: 9,170,680	I655N	probably damaging	Het
Lrrd1	G	A	5: 3,858,803	V692I	probably benign	Het
Mum1	A	T	10: 80,230,083	E57V	probably damaging	Het
Nes	T	C	3: 87,977,221	I929T	probably benign	Het
Ogfr	T	C	2: 180,592,515		probably benign	Het
Rfx2	G	T	17: 56,805,404	P43Q	probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sh3tc1	T	C	5: 35,707,172	K495R	probably damaging	Het
Slit1	A	T	19: 41,602,304	C1310S	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stk35	T	C	2: 129,801,801	V235A	probably damaging	Het
Syde2	T	G	3: 145,998,520	V142G	probably benign	Het
Tgfb3	A	G	12: 86,077,839	F32L	probably benign	Het
Tmem35a	T	C	X: 134,304,697	F121L	probably damaging	Het
Trp53bp2	T	A	1: 182,453,724	D963E	probably benign	Het
Vmn1r26	A	G	6: 58,008,875	S110P	probably damaging	Het
Vpreb2	T	C	16: 17,980,694		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
IGL01328:Xrn2	APN	2	147029930	missense	possibly damaging	0.90
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
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

2015-04-16