Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01729:Xrn2'

105421

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: 0.966) question?

Stock #

IGL01729

Quality Score

Status

Chromosome

Chromosomal Location

147012996-147078000 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 147036797 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028921 (fasta)

Gene Model

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

AlphaFold

Q9DBR1

Predicted Effect

probably null
Transcript: ENSMUST00000028921

SMART Domains

Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	A	G	15: 83,228,325	F86L	probably damaging	Het
Acer3	A	G	7: 98,216,865	V217A	probably benign	Het
Adcy10	T	C	1: 165,513,168		probably null	Het
Adcy8	C	T	15: 64,806,662	V481I	probably damaging	Het
Ano3	C	T	2: 110,781,394		probably null	Het
Arhgap23	C	T	11: 97,453,961	T583I	probably damaging	Het
Atp2a1	A	G	7: 126,457,934	L173P	probably damaging	Het
Clgn	T	C	8: 83,397,650	W74R	probably damaging	Het
Clstn3	T	C	6: 124,449,794	S523G	probably benign	Het
Dnah10	A	C	5: 124,787,465	K2245Q	probably benign	Het
Dsg1b	G	T	18: 20,405,238	V634L	possibly damaging	Het
Dzip3	A	T	16: 48,928,363	V864E	possibly damaging	Het
Ear2	A	T	14: 44,103,244	R120*	probably null	Het
Fam171b	T	C	2: 83,855,537		probably benign	Het
Fam186b	G	A	15: 99,280,251	S398L	probably benign	Het
Gabrp	T	C	11: 33,552,689	K392E	probably damaging	Het
Gm10355	G	A	3: 101,306,683		noncoding transcript	Het
Gm3424	T	C	14: 5,829,323	Y90C	probably damaging	Het
Gm8165	A	G	14: 43,672,729	V212A	unknown	Het
Grm7	G	A	6: 111,246,184	R395Q	probably benign	Het
Il1r1	T	A	1: 40,294,826	N185K	probably damaging	Het
Jam3	A	G	9: 27,105,525	F80L	probably damaging	Het
Map1s	T	C	8: 70,913,068	Y206H	probably damaging	Het
Mettl11b	T	A	1: 163,725,003	D18V	probably damaging	Het
Mroh7	A	G	4: 106,704,205	Y614H	possibly damaging	Het
Pate2	T	C	9: 35,670,592	Y61H	probably damaging	Het
Prox1	T	A	1: 190,161,175	T358S	probably benign	Het
Prpf6	T	A	2: 181,654,917	D876E	probably damaging	Het
Rpf1	G	A	3: 146,507,149	R311C	probably damaging	Het
Rpusd2	T	A	2: 119,035,356	V178D	probably damaging	Het
Stx2	A	G	5: 128,990,978	F222L	probably benign	Het
Themis	T	A	10: 28,761,591	Y230*	probably null	Het
Tmem132e	T	C	11: 82,435,116	L314P	possibly damaging	Het
Tmtc3	T	C	10: 100,447,155	E846G	probably benign	Het
Trem1	T	C	17: 48,244,575	V88A	possibly damaging	Het
Trim21	G	A	7: 102,563,893	A66V	probably damaging	Het
Trip4	A	C	9: 65,874,892	V186G	probably benign	Het
Vps9d1	T	C	8: 123,247,000	E348G	probably damaging	Het
Zfp36	A	G	7: 28,378,463	S7P	probably damaging	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
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
R8912:Xrn2	UTSW	2	147049993	missense	probably benign	0.04
R8969:Xrn2	UTSW	2	147029384	missense	probably damaging	1.00
R9083:Xrn2	UTSW	2	147038279	missense	probably damaging	1.00
R9179:Xrn2	UTSW	2	147013161	missense	probably benign	0.04
Z1177:Xrn2	UTSW	2	147028206	missense	possibly damaging	0.83

Posted On

2014-01-21