Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00487:Xrn1'

4832

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 #

IGL00487

Quality Score

Status

Chromosome

Chromosomal Location

95836813-95939856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95921002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1371 (H1371L)

Ref Sequence

ENSEMBL: ENSMUSP00000034981 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034981
AA Change: H1371L

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000034981
Gene: ENSMUSG00000032410
AA Change: H1371L

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: H1371L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000140278
Gene: ENSMUSG00000032410
AA Change: H1371L

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: ENSMUST00000189281

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,200,276 (GRCm39)		probably null	Het
Cfap251	T	G	5: 123,412,240 (GRCm39)	I84S	probably damaging	Het
Dusp23	T	C	1: 172,459,199 (GRCm39)		probably benign	Het
Invs	C	T	4: 48,407,689 (GRCm39)	Q555*	probably null	Het
Mak16	T	C	8: 31,656,778 (GRCm39)	N9D	probably benign	Het
Mrps7	T	C	11: 115,495,684 (GRCm39)	I74T	possibly damaging	Het
Nlrp4a	T	G	7: 26,149,410 (GRCm39)	V339G	possibly damaging	Het
Nucb1	A	G	7: 45,151,075 (GRCm39)	L102P	probably damaging	Het
Pdp2	T	C	8: 105,320,829 (GRCm39)	M226T	probably benign	Het
Pik3r2	T	C	8: 71,223,073 (GRCm39)	D449G	probably damaging	Het
Rnf157	G	A	11: 116,253,181 (GRCm39)	P76S	probably benign	Het
Senp6	C	A	9: 80,021,120 (GRCm39)	Q267K	probably damaging	Het
Slc9a2	A	G	1: 40,781,818 (GRCm39)	E349G	probably damaging	Het
Snx14	G	T	9: 88,284,243 (GRCm39)	S475Y	probably damaging	Het
Vmn1r180	A	T	7: 23,651,948 (GRCm39)	H37L	probably benign	Het

Other mutations in Xrn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02830:Xrn1	APN	9	95,900,234 (GRCm39)	critical splice donor site	probably null
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

2012-04-20