Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02830:Xrn1'

361411

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xrn1

Ensembl Gene

ENSMUSG00000032410

Gene Name

5'-3' exoribonuclease 1

Synonyms

mXrn1, Dhm2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.917) question?

Stock #

IGL02830

Quality Score

Status

Chromosome

Chromosomal Location

95836813-95939856 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 95900234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140278 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000034981

SMART Domains

Protein: ENSMUSP00000034981
Gene: ENSMUSG00000032410

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 null
Transcript: ENSMUST00000185633

SMART Domains

Protein: ENSMUSP00000140278
Gene: ENSMUSG00000032410

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: ENSMUST00000186632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190970

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 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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	A	17: 48,348,235 (GRCm39)	E67D	possibly damaging	Het
Acad11	T	A	9: 103,953,118 (GRCm39)	F116I	probably damaging	Het
Acox2	G	A	14: 8,255,298 (GRCm38)	T160I	probably damaging	Het
Anxa7	A	T	14: 20,506,608 (GRCm39)	M444K	possibly damaging	Het
Atg2a	A	G	19: 6,297,711 (GRCm39)	D423G	probably benign	Het
Cela3a	T	C	4: 137,128,946 (GRCm39)	N282S	probably benign	Het
Cyp2c50	G	A	19: 40,086,500 (GRCm39)	V296I	probably benign	Het
Fcgbpl1	C	A	7: 27,862,348 (GRCm39)	H2471Q	probably damaging	Het
Fgd3	A	G	13: 49,418,107 (GRCm39)		probably benign	Het
Gfus	C	T	15: 75,797,437 (GRCm39)	V275I	probably benign	Het
Gimap8	G	A	6: 48,633,239 (GRCm39)	A353T	probably benign	Het
Grin3a	T	A	4: 49,702,787 (GRCm39)	M900L	possibly damaging	Het
H1f0	T	G	15: 78,913,511 (GRCm39)		probably benign	Het
Heatr1	T	C	13: 12,441,093 (GRCm39)	V1456A	possibly damaging	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Kbtbd3	T	A	9: 4,330,096 (GRCm39)	S157T	possibly damaging	Het
Kif19a	C	T	11: 114,672,034 (GRCm39)	T207M	probably damaging	Het
Klc1	T	C	12: 111,743,341 (GRCm39)	Y223H	probably damaging	Het
Klhl33	C	T	14: 51,129,214 (GRCm39)	V672M	probably damaging	Het
Lrrc49	G	A	9: 60,592,393 (GRCm39)	L34F	probably damaging	Het
Nalcn	C	T	14: 123,530,881 (GRCm39)	V1386I	probably damaging	Het
Or14c39	T	G	7: 86,344,382 (GRCm39)	C239W	probably damaging	Het
Or4b13	A	T	2: 90,083,125 (GRCm39)	I69N	probably damaging	Het
Or51b6	C	T	7: 103,555,651 (GRCm39)	P2S	probably benign	Het
Or5ac19	A	G	16: 59,089,416 (GRCm39)	S205P	possibly damaging	Het
Orc5	A	T	5: 22,734,265 (GRCm39)	L173Q	probably damaging	Het
Otud4	T	G	8: 80,399,930 (GRCm39)	D880E	probably benign	Het
Pde12	T	C	14: 26,389,740 (GRCm39)	Y323C	probably damaging	Het
Pde8b	G	T	13: 95,189,409 (GRCm39)	D198E	probably benign	Het
Prom2	T	A	2: 127,376,989 (GRCm39)	I542F	possibly damaging	Het
Ptprj	G	A	2: 90,283,488 (GRCm39)	T952I	probably benign	Het
Ribc2	T	A	15: 85,016,458 (GRCm39)		probably benign	Het
Sec31b	C	T	19: 44,520,142 (GRCm39)	R214K	probably damaging	Het
Senp5	G	A	16: 31,802,303 (GRCm39)		probably benign	Het
Sh3pxd2a	G	A	19: 47,271,517 (GRCm39)	R249W	probably damaging	Het
Sorcs3	G	A	19: 48,711,441 (GRCm39)		probably null	Het
Spata31d1c	A	G	13: 65,183,180 (GRCm39)	T241A	probably benign	Het
Tac1	G	A	6: 7,555,650 (GRCm39)	V13I	probably benign	Het
Tnnc2	T	A	2: 164,619,430 (GRCm39)	D138V	probably null	Het
Tspan32	T	A	7: 142,571,329 (GRCm39)	M159K	possibly damaging	Het
Ttc28	A	T	5: 111,434,105 (GRCm39)	T2380S	probably benign	Het
Ubc	T	A	5: 125,464,377 (GRCm39)	I317F	probably damaging	Het
Usp24	T	C	4: 106,204,584 (GRCm39)	S268P	possibly damaging	Het
Vmn2r91	C	A	17: 18,356,884 (GRCm39)	H850Q	probably benign	Het
Zfp329	A	C	7: 12,544,043 (GRCm39)	C494G	probably damaging	Het
Zfp54	T	C	17: 21,653,718 (GRCm39)	S71P	probably damaging	Het

Other mutations in Xrn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Xrn1	APN	9	95,921,002 (GRCm39)	missense	probably benign	0.05
IGL00778:Xrn1	APN	9	95,855,500 (GRCm39)	splice site	probably benign
IGL01936:Xrn1	APN	9	95,930,397 (GRCm39)	missense	probably damaging	0.98
IGL01983:Xrn1	APN	9	95,855,421 (GRCm39)	critical splice donor site	probably null
IGL02106:Xrn1	APN	9	95,859,858 (GRCm39)	missense	probably benign	0.28
IGL02330:Xrn1	APN	9	95,855,401 (GRCm39)	nonsense	probably null
IGL02338:Xrn1	APN	9	95,859,880 (GRCm39)	missense	probably benign	0.42
R0063:Xrn1	UTSW	9	95,851,588 (GRCm39)	missense	probably damaging	1.00
R0063:Xrn1	UTSW	9	95,851,588 (GRCm39)	missense	probably damaging	1.00
R0467:Xrn1	UTSW	9	95,906,244 (GRCm39)	missense	probably damaging	1.00
R0508:Xrn1	UTSW	9	95,933,789 (GRCm39)	missense	probably benign	0.00
R0605:Xrn1	UTSW	9	95,908,930 (GRCm39)	nonsense	probably null
R0670:Xrn1	UTSW	9	95,873,109 (GRCm39)	missense	probably damaging	1.00
R0691:Xrn1	UTSW	9	95,855,592 (GRCm39)	missense	probably damaging	0.96
R0781:Xrn1	UTSW	9	95,873,322 (GRCm39)	missense	probably benign	0.00
R0947:Xrn1	UTSW	9	95,880,316 (GRCm39)	missense	possibly damaging	0.60
R1034:Xrn1	UTSW	9	95,921,790 (GRCm39)	missense	probably damaging	1.00
R1124:Xrn1	UTSW	9	95,885,918 (GRCm39)	missense	probably benign	0.02
R1171:Xrn1	UTSW	9	95,873,064 (GRCm39)	missense	possibly damaging	0.47
R1199:Xrn1	UTSW	9	95,863,814 (GRCm39)	splice site	probably benign
R1609:Xrn1	UTSW	9	95,856,946 (GRCm39)	missense	probably benign	0.03
R1921:Xrn1	UTSW	9	95,881,550 (GRCm39)	missense	probably benign	0.04
R1953:Xrn1	UTSW	9	95,906,274 (GRCm39)	critical splice donor site	probably null
R2000:Xrn1	UTSW	9	95,927,616 (GRCm39)	nonsense	probably null
R2109:Xrn1	UTSW	9	95,861,273 (GRCm39)	missense	probably benign	0.13
R2111:Xrn1	UTSW	9	95,921,885 (GRCm39)	missense	probably benign	0.03
R2164:Xrn1	UTSW	9	95,888,873 (GRCm39)	missense	possibly damaging	0.95
R2266:Xrn1	UTSW	9	95,888,765 (GRCm39)	missense	possibly damaging	0.64
R3754:Xrn1	UTSW	9	95,849,841 (GRCm39)	missense	probably damaging	1.00
R3783:Xrn1	UTSW	9	95,851,338 (GRCm39)	missense	probably benign	0.10
R3921:Xrn1	UTSW	9	95,851,337 (GRCm39)	missense	probably benign	0.01
R3929:Xrn1	UTSW	9	95,870,926 (GRCm39)	missense	possibly damaging	0.89
R4011:Xrn1	UTSW	9	95,867,278 (GRCm39)	nonsense	probably null
R4082:Xrn1	UTSW	9	95,863,973 (GRCm39)	missense	probably benign	0.02
R4455:Xrn1	UTSW	9	95,855,698 (GRCm39)	intron	probably benign
R4736:Xrn1	UTSW	9	95,915,689 (GRCm39)	missense	probably damaging	1.00
R4756:Xrn1	UTSW	9	95,921,862 (GRCm39)	missense	probably benign	0.00
R4780:Xrn1	UTSW	9	95,856,797 (GRCm39)	intron	probably benign
R5152:Xrn1	UTSW	9	95,846,118 (GRCm39)	missense	probably benign	0.40
R5261:Xrn1	UTSW	9	95,927,596 (GRCm39)	missense	probably benign	0.00
R5741:Xrn1	UTSW	9	95,927,604 (GRCm39)	missense	probably benign	0.24
R6108:Xrn1	UTSW	9	95,856,480 (GRCm39)	missense	possibly damaging	0.91
R6127:Xrn1	UTSW	9	95,851,542 (GRCm39)	missense	probably damaging	0.99
R6268:Xrn1	UTSW	9	95,846,067 (GRCm39)	missense	probably damaging	1.00
R6418:Xrn1	UTSW	9	95,915,763 (GRCm39)	splice site	probably null
R7002:Xrn1	UTSW	9	95,929,843 (GRCm39)	missense	probably benign	0.00
R7067:Xrn1	UTSW	9	95,851,565 (GRCm39)	missense	probably damaging	0.98
R7155:Xrn1	UTSW	9	95,861,198 (GRCm39)	missense	possibly damaging	0.92
R7439:Xrn1	UTSW	9	95,933,682 (GRCm39)	missense	probably benign
R7447:Xrn1	UTSW	9	95,927,547 (GRCm39)	missense	probably benign
R7454:Xrn1	UTSW	9	95,930,411 (GRCm39)	missense	probably benign	0.03
R7473:Xrn1	UTSW	9	95,861,194 (GRCm39)	missense	probably benign	0.07
R7561:Xrn1	UTSW	9	95,881,511 (GRCm39)	missense	probably benign	0.18
R7580:Xrn1	UTSW	9	95,893,732 (GRCm39)	missense	not run
R7642:Xrn1	UTSW	9	95,903,906 (GRCm39)	missense	possibly damaging	0.95
R7763:Xrn1	UTSW	9	95,880,401 (GRCm39)	critical splice donor site	probably null
R8225:Xrn1	UTSW	9	95,917,720 (GRCm39)	missense	probably benign
R8372:Xrn1	UTSW	9	95,906,166 (GRCm39)	missense	probably benign	0.42
R8516:Xrn1	UTSW	9	95,930,444 (GRCm39)	nonsense	probably null
R8710:Xrn1	UTSW	9	95,884,285 (GRCm39)	missense
R8850:Xrn1	UTSW	9	95,920,732 (GRCm39)	missense	probably benign
R8865:Xrn1	UTSW	9	95,873,246 (GRCm39)	missense	probably benign	0.00
R8951:Xrn1	UTSW	9	95,870,999 (GRCm39)	missense	probably benign	0.00
R9013:Xrn1	UTSW	9	95,920,981 (GRCm39)	missense	probably benign	0.00
R9162:Xrn1	UTSW	9	95,915,660 (GRCm39)	missense	probably benign	0.01
R9163:Xrn1	UTSW	9	95,880,274 (GRCm39)	missense	probably benign	0.00
R9415:Xrn1	UTSW	9	95,851,527 (GRCm39)	missense	probably damaging	1.00
R9438:Xrn1	UTSW	9	95,893,287 (GRCm39)	missense	probably benign	0.30
R9544:Xrn1	UTSW	9	95,920,756 (GRCm39)	missense	probably benign
R9588:Xrn1	UTSW	9	95,920,756 (GRCm39)	missense	probably benign
R9674:Xrn1	UTSW	9	95,855,647 (GRCm39)	missense	possibly damaging	0.65
R9674:Xrn1	UTSW	9	95,855,645 (GRCm39)	missense	probably damaging	0.99
R9716:Xrn1	UTSW	9	95,927,632 (GRCm39)	missense	possibly damaging	0.71
Z1176:Xrn1	UTSW	9	95,846,243 (GRCm39)	missense	probably damaging	1.00
Z1177:Xrn1	UTSW	9	95,873,058 (GRCm39)	missense	probably benign	0.00

Posted On

2015-12-18