Mutagenetix > Incidental Mutation

Incidental Mutation 'R8372:Xrn1'

646498

Institutional Source

Beutler Lab

Gene Symbol

Xrn1

Ensembl Gene

ENSMUSG00000032410

Gene Name

5'-3' exoribonuclease 1

Synonyms

mXrn1, Dhm2

MMRRC Submission

067875-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.917) question?

Stock #

R8372 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95836813-95939856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95906166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1186 (T1186A)

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: T1186A

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034981
Gene: ENSMUSG00000032410
AA Change: T1186A

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

possibly damaging
Transcript: ENSMUST00000185633
AA Change: T1186A

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140278
Gene: ENSMUSG00000032410
AA Change: T1186A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,682,152 (GRCm39)	D155G	probably damaging	Het
Adgrg7	T	A	16: 56,616,114 (GRCm39)		probably benign	Het
Agap2	T	C	10: 126,925,185 (GRCm39)	S833P	unknown	Het
B4galnt2	T	C	11: 95,760,106 (GRCm39)	E307G	possibly damaging	Het
Bcl9l	A	G	9: 44,418,528 (GRCm39)	M826V	probably benign	Het
C2cd3	C	T	7: 100,104,487 (GRCm39)	Q2167*	probably null	Het
Ccdc7a	T	C	8: 129,547,585 (GRCm39)	E1289G	possibly damaging	Het
Cep290	T	C	10: 100,385,203 (GRCm39)	V1893A	probably benign	Het
Clec4g	T	C	8: 3,757,990 (GRCm39)		probably benign	Het
Cspg4	A	G	9: 56,794,479 (GRCm39)	E738G	probably damaging	Het
Cyth4	A	G	15: 78,481,335 (GRCm39)		probably benign	Het
Dab2	A	C	15: 6,446,406 (GRCm39)	S8R	possibly damaging	Het
Dclk3	A	G	9: 111,314,081 (GRCm39)	D719G	probably damaging	Het
Dync2h1	A	G	9: 7,111,514 (GRCm39)	V2540A	possibly damaging	Het
Elavl1	T	C	8: 4,339,664 (GRCm39)	N306S	probably damaging	Het
Ercc6l2	T	C	13: 64,001,563 (GRCm39)	V459A	probably damaging	Het
Fcgr2b	A	G	1: 170,793,330 (GRCm39)	V233A	probably benign	Het
Gfm2	T	C	13: 97,301,552 (GRCm39)	S452P	possibly damaging	Het
Gpr15	A	G	16: 58,538,850 (GRCm39)	F80L	probably benign	Het
Ighv13-2	A	T	12: 114,321,681 (GRCm39)	C19*	probably null	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Klhl33	C	T	14: 51,129,689 (GRCm39)	R312Q	probably damaging	Het
Klhl9	A	G	4: 88,639,596 (GRCm39)	L215P	probably damaging	Het
Krtap20-1	G	C	16: 88,812,385 (GRCm39)	G57R	unknown	Het
Or9k2b	A	G	10: 130,016,656 (GRCm39)	F31S	probably damaging	Het
Parp8	T	A	13: 116,991,786 (GRCm39)	Q872H	probably damaging	Het
Plxnb2	A	G	15: 89,042,696 (GRCm39)	S1531P	probably damaging	Het
Psg16	A	G	7: 16,829,240 (GRCm39)	T275A	probably benign	Het
Ptprk	A	G	10: 28,230,688 (GRCm39)	T260A	possibly damaging	Het
Rapgef1	G	A	2: 29,600,243 (GRCm39)	G655S	probably damaging	Het
Rbm15b	T	C	9: 106,762,762 (GRCm39)	M19V		Het
Rbm42	A	G	7: 30,340,631 (GRCm39)	S447P	unknown	Het
Rsf1	T	C	7: 97,311,624 (GRCm39)	S785P		Het
Scnn1a	A	G	6: 125,320,681 (GRCm39)	N578S	probably damaging	Het
Slc39a7	T	C	17: 34,249,639 (GRCm39)	N169D	probably damaging	Het
Spp1	A	G	5: 104,588,122 (GRCm39)	T175A	probably benign	Het
Tigd5	A	G	15: 75,782,337 (GRCm39)	H233R	probably benign	Het
Tmprss3	C	T	17: 31,403,671 (GRCm39)	V377I	probably benign	Het
Vmn1r75	A	T	7: 11,614,657 (GRCm39)	I130F	probably benign	Het
Xpo4	A	G	14: 57,835,341 (GRCm39)		probably null	Het
Zcchc4	T	C	5: 52,953,506 (GRCm39)	Y172H	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGACCTACATTGAATTCCTGACC -3'
(R):5'- GTGTCTTTACATCATGATCTGTACCAC -3'

Sequencing Primer
(F):5'- ACATTGAATTCCTGACCTTCCCAC -3'
(R):5'- GGAACTTACCTGAGTAGGAA -3'

Posted On

2020-09-02