Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01805:Xrn2'

155653

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xrn2

Ensembl Gene

ENSMUSG00000027433

Gene Name

5'-3' exoribonuclease 2

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL01805

Quality Score

Status

Chromosome

Chromosomal Location

146854916-146919920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146870063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 251 (I251V)

Ref Sequence

ENSEMBL: ENSMUSP00000028921 (fasta)

Gene Model

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

AlphaFold

Q9DBR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028921
AA Change: I251V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: I251V

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,964,677 (GRCm39)	D17G	possibly damaging	Het
Adam28	G	T	14: 68,879,540 (GRCm39)	S169R	probably benign	Het
Aox1	T	C	1: 58,120,672 (GRCm39)	M855T	possibly damaging	Het
Apc	C	A	18: 34,451,271 (GRCm39)	N2688K	probably benign	Het
Arhgap23	T	A	11: 97,383,428 (GRCm39)		probably benign	Het
Bpifa6	A	G	2: 153,826,832 (GRCm39)	T66A	probably benign	Het
C1qtnf1	T	A	11: 118,338,993 (GRCm39)	L221Q	probably damaging	Het
Ccdc175	T	A	12: 72,176,003 (GRCm39)		probably benign	Het
Ccl1	C	A	11: 82,068,958 (GRCm39)	M26I	possibly damaging	Het
Dnah10	T	A	5: 124,860,985 (GRCm39)	F2123I	probably damaging	Het
Fancm	T	C	12: 65,160,635 (GRCm39)		probably null	Het
Fstl4	C	A	11: 53,077,184 (GRCm39)	A647E	probably damaging	Het
Hmgb4	G	T	4: 128,154,015 (GRCm39)		probably benign	Het
Hr	A	T	14: 70,802,737 (GRCm39)		probably benign	Het
Ilrun	C	T	17: 27,986,880 (GRCm39)		probably benign	Het
Kcna4	G	T	2: 107,126,843 (GRCm39)	V526L	probably damaging	Het
Mas1	T	C	17: 13,061,117 (GRCm39)	Y102C	probably damaging	Het
Mucl3	T	A	17: 35,948,535 (GRCm39)	T355S	possibly damaging	Het
Mul1	C	T	4: 138,166,974 (GRCm39)	P343S	possibly damaging	Het
Obscn	T	C	11: 59,023,422 (GRCm39)	S652G	probably damaging	Het
Or8g55	T	C	9: 39,785,075 (GRCm39)	F168S	probably damaging	Het
Pjvk	A	T	2: 76,487,858 (GRCm39)	N250I	probably benign	Het
Pkd2	T	C	5: 104,630,959 (GRCm39)	I461T	probably benign	Het
Psen2	T	C	1: 180,057,403 (GRCm39)		probably null	Het
Ralb	T	C	1: 119,403,725 (GRCm39)	E81G	probably benign	Het
Slc15a4	T	C	5: 127,685,900 (GRCm39)	T261A	possibly damaging	Het
Vmn2r77	G	A	7: 86,460,395 (GRCm39)	V574M	probably benign	Het
Zfp974	G	A	7: 27,611,689 (GRCm39)		probably benign	Het

Other mutations in Xrn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Xrn2	APN	2	146,878,670 (GRCm39)	missense	probably benign	0.00
IGL00950:Xrn2	APN	2	146,870,066 (GRCm39)	nonsense	probably null
IGL01323:Xrn2	APN	2	146,876,767 (GRCm39)	splice site	probably benign
IGL01328:Xrn2	APN	2	146,871,850 (GRCm39)	missense	possibly damaging	0.90
IGL01545:Xrn2	APN	2	146,880,099 (GRCm39)	missense	probably benign
IGL01729:Xrn2	APN	2	146,878,717 (GRCm39)	critical splice donor site	probably null
IGL02326:Xrn2	APN	2	146,889,633 (GRCm39)	missense	probably benign	0.32
IGL02332:Xrn2	APN	2	146,868,510 (GRCm39)	missense	probably damaging	1.00
IGL02556:Xrn2	APN	2	146,880,216 (GRCm39)	splice site	probably benign
IGL02609:Xrn2	APN	2	146,891,945 (GRCm39)	missense	probably benign	0.00
IGL02941:Xrn2	APN	2	146,868,444 (GRCm39)	missense	probably damaging	1.00
IGL03119:Xrn2	APN	2	146,884,792 (GRCm39)	missense	probably damaging	1.00
R0052:Xrn2	UTSW	2	146,882,885 (GRCm39)	splice site	probably benign
R0114:Xrn2	UTSW	2	146,871,699 (GRCm39)	missense	probably damaging	0.98
R0196:Xrn2	UTSW	2	146,889,580 (GRCm39)	missense	probably damaging	0.99
R0799:Xrn2	UTSW	2	146,871,818 (GRCm39)	missense	probably benign	0.03
R0991:Xrn2	UTSW	2	146,884,002 (GRCm39)	missense	probably benign	0.40
R1444:Xrn2	UTSW	2	146,903,408 (GRCm39)	missense	probably damaging	0.99
R1727:Xrn2	UTSW	2	146,903,436 (GRCm39)	missense	probably benign	0.00
R1735:Xrn2	UTSW	2	146,903,343 (GRCm39)	missense	probably damaging	1.00
R1885:Xrn2	UTSW	2	146,891,281 (GRCm39)	nonsense	probably null
R2199:Xrn2	UTSW	2	146,866,670 (GRCm39)	missense	probably damaging	0.96
R2884:Xrn2	UTSW	2	146,889,576 (GRCm39)	missense	probably damaging	1.00
R3730:Xrn2	UTSW	2	146,866,729 (GRCm39)	missense	probably benign	0.09
R3771:Xrn2	UTSW	2	146,903,207 (GRCm39)	missense	probably benign	0.12
R3772:Xrn2	UTSW	2	146,903,207 (GRCm39)	missense	probably benign	0.12
R3773:Xrn2	UTSW	2	146,903,207 (GRCm39)	missense	probably benign	0.12
R3816:Xrn2	UTSW	2	146,870,120 (GRCm39)	missense	probably damaging	1.00
R3927:Xrn2	UTSW	2	146,880,109 (GRCm39)	missense	probably benign
R4173:Xrn2	UTSW	2	146,889,612 (GRCm39)	missense	probably damaging	0.96
R4659:Xrn2	UTSW	2	146,903,394 (GRCm39)	missense	probably benign	0.01
R4928:Xrn2	UTSW	2	146,893,638 (GRCm39)	missense	possibly damaging	0.80
R5452:Xrn2	UTSW	2	146,866,633 (GRCm39)	critical splice acceptor site	probably null
R5527:Xrn2	UTSW	2	146,871,675 (GRCm39)	missense	probably benign	0.02
R6297:Xrn2	UTSW	2	146,868,490 (GRCm39)	missense	probably damaging	1.00
R6301:Xrn2	UTSW	2	146,905,262 (GRCm39)	missense	probably benign	0.05
R6316:Xrn2	UTSW	2	146,883,930 (GRCm39)	missense	probably damaging	1.00
R6705:Xrn2	UTSW	2	146,878,582 (GRCm39)	critical splice acceptor site	probably null
R7173:Xrn2	UTSW	2	146,884,013 (GRCm39)	missense	probably damaging	1.00
R7408:Xrn2	UTSW	2	146,884,017 (GRCm39)	critical splice donor site	probably null
R7412:Xrn2	UTSW	2	146,891,266 (GRCm39)	missense	probably damaging	0.99
R7501:Xrn2	UTSW	2	146,871,676 (GRCm39)	missense	probably damaging	1.00
R7856:Xrn2	UTSW	2	146,910,393 (GRCm39)	splice site	probably null
R8912:Xrn2	UTSW	2	146,891,913 (GRCm39)	missense	probably benign	0.04
R8969:Xrn2	UTSW	2	146,871,304 (GRCm39)	missense	probably damaging	1.00
R9083:Xrn2	UTSW	2	146,880,199 (GRCm39)	missense	probably damaging	1.00
R9179:Xrn2	UTSW	2	146,855,081 (GRCm39)	missense	probably benign	0.04
Z1177:Xrn2	UTSW	2	146,870,126 (GRCm39)	missense	possibly damaging	0.83

Posted On

2014-02-04