Mutagenetix > Incidental Mutation

Incidental Mutation 'R1124:Xrn1'

95984

Institutional Source

Beutler Lab

Gene Symbol

Xrn1

Ensembl Gene

ENSMUSG00000032410

Gene Name

5'-3' exoribonuclease 1

Synonyms

Dhm2, mXrn1

MMRRC Submission

039197-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R1124 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95954760-96057803 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96003865 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 880 (I880V)

Ref Sequence

ENSEMBL: ENSMUSP00000140278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034981] [ENSMUST00000185633] [ENSMUST00000190665]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034981
AA Change: I880V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000034981
Gene: ENSMUSG00000032410
AA Change: I880V

Domain	Start	End	E-Value	Type
Pfam:XRN_N	1	227	8.4e-99	PFAM
low complexity region	372	389	N/A	INTRINSIC
low complexity region	414	430	N/A	INTRINSIC
low complexity region	662	673	N/A	INTRINSIC
low complexity region	1054	1066	N/A	INTRINSIC
low complexity region	1555	1566	N/A	INTRINSIC
low complexity region	1665	1684	N/A	INTRINSIC
low complexity region	1696	1711	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185633
AA Change: I880V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000140278
Gene: ENSMUSG00000032410
AA Change: I880V

Domain	Start	End	E-Value	Type
Pfam:XRN_N	1	228	1.2e-103	PFAM
low complexity region	372	389	N/A	INTRINSIC
low complexity region	414	430	N/A	INTRINSIC
low complexity region	662	673	N/A	INTRINSIC
low complexity region	1054	1066	N/A	INTRINSIC
low complexity region	1551	1562	N/A	INTRINSIC
low complexity region	1661	1680	N/A	INTRINSIC
low complexity region	1692	1707	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189612

Predicted Effect

probably benign
Transcript: ENSMUST00000190665
AA Change: I772V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000139510
Gene: ENSMUSG00000032410
AA Change: I772V

Domain	Start	End	E-Value	Type
Pfam:XRN_N	1	228	4.9e-104	PFAM
low complexity region	372	389	N/A	INTRINSIC
low complexity region	414	430	N/A	INTRINSIC
PDB:2Y35\|A	654	939	2e-36	PDB
low complexity region	946	958	N/A	INTRINSIC

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.7%
20x: 86.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 5'-3' exonuclease family. The encoded protein may be involved in replication-dependent histone mRNA degradation, and interacts directly with the enhancer of mRNA-decapping protein 4. In addition to mRNA metabolism, a similar protein in yeast has been implicated in a variety of nuclear and cytoplasmic functions, including homologous recombination, meiosis, telomere maintenance, and microtubule assembly. Mutations in this gene are associated with osteosarcoma, suggesting that the encoded protein may also play a role in bone formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	C	T	14: 32,662,082	R642Q	possibly damaging	Het
9430007A20Rik	A	G	4: 144,528,624	T205A	probably benign	Het
Anxa10	C	T	8: 62,061,004		probably null	Het
Bcl11a	A	T	11: 24,163,928	M424L	probably damaging	Het
Bhlhe41	A	G	6: 145,863,730	S119P	probably damaging	Het
C2cd3	A	G	7: 100,422,681	D1033G	probably benign	Het
Ccdc174	T	C	6: 91,899,580	V466A	probably benign	Het
Drd2	T	C	9: 49,395,640	Y9H	probably damaging	Het
Fbxw14	T	A	9: 109,276,168	I310F	possibly damaging	Het
Gm436	T	C	4: 144,670,275	S296G	probably benign	Het
Gm8298	A	G	3: 59,865,218	T48A	probably benign	Het
Grm3	C	T	5: 9,570,297	V316I	probably benign	Het
Gys2	A	G	6: 142,446,013	Y508H	probably damaging	Het
Lrp1b	T	A	2: 40,875,051	D2921V	probably damaging	Het
Lrrc6	T	A	15: 66,438,415	T335S	possibly damaging	Het
Macrod2	A	G	2: 140,452,627	K71R	probably damaging	Het
Myh7	A	T	14: 54,973,870	V1614E	possibly damaging	Het
Nckap1	C	T	2: 80,517,942	S889N	probably benign	Het
Olfr1056	T	A	2: 86,355,895	K162N	probably damaging	Het
Pirb	T	A	7: 3,719,732	N87I	probably benign	Het
Pmfbp1	A	G	8: 109,530,483		probably null	Het
Rasa4	A	G	5: 136,105,656	N627S	probably benign	Het
Spata31d1b	A	C	13: 59,716,654	M539L	probably benign	Het
Tbc1d23	A	T	16: 57,214,162		probably null	Het
Tnfrsf1b	A	T	4: 145,224,356	L229Q	probably benign	Het
Trip12	A	T	1: 84,737,037	V443E	probably damaging	Het
Ush2a	G	T	1: 188,753,536	V2948L	probably damaging	Het
Vmn1r204	A	T	13: 22,557,039	Y280F	possibly damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,359,988		probably benign	Het
Vmn2r93	G	T	17: 18,298,448	K56N	probably benign	Het
Zfp106	C	T	2: 120,534,714	G404E	probably benign	Het

Other mutations in Xrn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Xrn1	APN	9	96038949	missense	probably benign	0.05
IGL00778:Xrn1	APN	9	95973447	splice site	probably benign
IGL01936:Xrn1	APN	9	96048344	missense	probably damaging	0.98
IGL01983:Xrn1	APN	9	95973368	critical splice donor site	probably null
IGL02106:Xrn1	APN	9	95977805	missense	probably benign	0.28
IGL02330:Xrn1	APN	9	95973348	nonsense	probably null
IGL02338:Xrn1	APN	9	95977827	missense	probably benign	0.42
IGL02830:Xrn1	APN	9	96018181	critical splice donor site	probably null
R0063:Xrn1	UTSW	9	95969535	missense	probably damaging	1.00
R0063:Xrn1	UTSW	9	95969535	missense	probably damaging	1.00
R0467:Xrn1	UTSW	9	96024191	missense	probably damaging	1.00
R0508:Xrn1	UTSW	9	96051736	missense	probably benign	0.00
R0605:Xrn1	UTSW	9	96026877	nonsense	probably null
R0670:Xrn1	UTSW	9	95991056	missense	probably damaging	1.00
R0691:Xrn1	UTSW	9	95973539	missense	probably damaging	0.96
R0781:Xrn1	UTSW	9	95991269	missense	probably benign	0.00
R0947:Xrn1	UTSW	9	95998263	missense	possibly damaging	0.60
R1034:Xrn1	UTSW	9	96039737	missense	probably damaging	1.00
R1171:Xrn1	UTSW	9	95991011	missense	possibly damaging	0.47
R1199:Xrn1	UTSW	9	95981761	splice site	probably benign
R1609:Xrn1	UTSW	9	95974893	missense	probably benign	0.03
R1921:Xrn1	UTSW	9	95999497	missense	probably benign	0.04
R1953:Xrn1	UTSW	9	96024221	critical splice donor site	probably null
R2000:Xrn1	UTSW	9	96045563	nonsense	probably null
R2109:Xrn1	UTSW	9	95979220	missense	probably benign	0.13
R2111:Xrn1	UTSW	9	96039832	missense	probably benign	0.03
R2164:Xrn1	UTSW	9	96006820	missense	possibly damaging	0.95
R2266:Xrn1	UTSW	9	96006712	missense	possibly damaging	0.64
R3754:Xrn1	UTSW	9	95967788	missense	probably damaging	1.00
R3783:Xrn1	UTSW	9	95969285	missense	probably benign	0.10
R3921:Xrn1	UTSW	9	95969284	missense	probably benign	0.01
R3929:Xrn1	UTSW	9	95988873	missense	possibly damaging	0.89
R4011:Xrn1	UTSW	9	95985225	nonsense	probably null
R4082:Xrn1	UTSW	9	95981920	missense	probably benign	0.02
R4455:Xrn1	UTSW	9	95973645	intron	probably benign
R4736:Xrn1	UTSW	9	96033636	missense	probably damaging	1.00
R4756:Xrn1	UTSW	9	96039809	missense	probably benign	0.00
R4780:Xrn1	UTSW	9	95974744	intron	probably benign
R5152:Xrn1	UTSW	9	95964065	missense	probably benign	0.40
R5261:Xrn1	UTSW	9	96045543	missense	probably benign	0.00
R5741:Xrn1	UTSW	9	96045551	missense	probably benign	0.24
R6108:Xrn1	UTSW	9	95974427	missense	possibly damaging	0.91
R6127:Xrn1	UTSW	9	95969489	missense	probably damaging	0.99
R6268:Xrn1	UTSW	9	95964014	missense	probably damaging	1.00
R6418:Xrn1	UTSW	9	96033710	splice site	probably null
R7002:Xrn1	UTSW	9	96047790	missense	probably benign	0.00
R7067:Xrn1	UTSW	9	95969512	missense	probably damaging	0.98
R7155:Xrn1	UTSW	9	95979145	missense	possibly damaging	0.92
R7439:Xrn1	UTSW	9	96051629	missense	probably benign
R7447:Xrn1	UTSW	9	96045494	missense	probably benign
R7454:Xrn1	UTSW	9	96048358	missense	probably benign	0.03
R7473:Xrn1	UTSW	9	95979141	missense	probably benign	0.07
R7561:Xrn1	UTSW	9	95999458	missense	probably benign	0.18
R7580:Xrn1	UTSW	9	96011679	missense	not run
R7642:Xrn1	UTSW	9	96021853	missense	possibly damaging	0.95
R7763:Xrn1	UTSW	9	95998348	critical splice donor site	probably null
R8225:Xrn1	UTSW	9	96035667	missense	probably benign
R8372:Xrn1	UTSW	9	96024113	missense	probably benign	0.42
R8516:Xrn1	UTSW	9	96048391	nonsense	probably null
R8710:Xrn1	UTSW	9	96002232	missense
R8850:Xrn1	UTSW	9	96038679	missense	probably benign
R8865:Xrn1	UTSW	9	95991193	missense	probably benign	0.00
R8951:Xrn1	UTSW	9	95988946	missense	probably benign	0.00
R9013:Xrn1	UTSW	9	96038928	missense	probably benign	0.00
R9162:Xrn1	UTSW	9	96033607	missense	probably benign	0.01
R9163:Xrn1	UTSW	9	95998221	missense	probably benign	0.00
R9415:Xrn1	UTSW	9	95969474	missense	probably damaging	1.00
R9438:Xrn1	UTSW	9	96011234	missense	probably benign	0.30
R9544:Xrn1	UTSW	9	96038703	missense	probably benign
R9588:Xrn1	UTSW	9	96038703	missense	probably benign
R9674:Xrn1	UTSW	9	95973592	missense	probably damaging	0.99
R9674:Xrn1	UTSW	9	95973594	missense	possibly damaging	0.65
R9716:Xrn1	UTSW	9	96045579	missense	possibly damaging	0.71
Z1176:Xrn1	UTSW	9	95964190	missense	probably damaging	1.00
Z1177:Xrn1	UTSW	9	95991005	missense	probably benign	0.00

Predicted Primers

Posted On

2014-01-05