Incidental Mutation 'R7439:Xrn1'
ID 576827
Institutional Source Beutler Lab
Gene Symbol Xrn1
Ensembl Gene ENSMUSG00000032410
Gene Name 5'-3' exoribonuclease 1
Synonyms mXrn1, Dhm2
MMRRC Submission 045515-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.917) question?
Stock # R7439 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 95836813-95939856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95933682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1584 (S1584P)
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: S1584P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034981
Gene: ENSMUSG00000032410
AA Change: S1584P

DomainStartEndE-ValueType
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: S1580P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140278
Gene: ENSMUSG00000032410
AA Change: S1580P

DomainStartEndE-ValueType
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: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 T C 4: 144,504,332 (GRCm39) D273G probably damaging Het
Acacb T C 5: 114,333,703 (GRCm39) V542A possibly damaging Het
Adprhl1 C T 8: 13,273,069 (GRCm39) V1230I probably benign Het
Agpat1 T A 17: 34,829,883 (GRCm39) Y77N probably damaging Het
Apc T A 18: 34,445,126 (GRCm39) I674K probably damaging Het
Arpc5 T C 1: 152,647,187 (GRCm39) S97P probably damaging Het
Arrdc5 A G 17: 56,604,931 (GRCm39) F119L probably benign Het
Asap1 A G 15: 64,002,105 (GRCm39) V402A probably damaging Het
Aspg T C 12: 112,091,255 (GRCm39) V479A possibly damaging Het
B3galnt2 G A 13: 14,169,070 (GRCm39) V368M probably benign Het
Bcl3 T C 7: 19,556,536 (GRCm39) T23A probably benign Het
Bpifb5 A G 2: 154,070,853 (GRCm39) K215E possibly damaging Het
Coa4 T A 7: 100,188,478 (GRCm39) C64S probably damaging Het
Dcun1d4 T C 5: 73,648,879 (GRCm39) probably null Het
Dnaaf5 T G 5: 139,151,868 (GRCm39) C506W probably damaging Het
Dock3 A G 9: 106,900,931 (GRCm39) Y345H probably damaging Het
Dscaml1 A G 9: 45,621,624 (GRCm39) N1024S possibly damaging Het
Dsp T C 13: 38,360,478 (GRCm39) probably null Het
Dsp A G 13: 38,379,425 (GRCm39) T2057A probably benign Het
Dync1h1 T G 12: 110,602,887 (GRCm39) L2176R probably damaging Het
Eif5b A C 1: 38,090,718 (GRCm39) D1192A probably benign Het
Epn2 A T 11: 61,437,674 (GRCm39) probably benign Het
Exoc1 T A 5: 76,693,195 (GRCm39) N360K probably benign Het
Fam135b A T 15: 71,335,529 (GRCm39) V555E probably damaging Het
Fmn1 A T 2: 113,271,956 (GRCm39) Q108L unknown Het
Gcc2 A G 10: 58,092,723 (GRCm39) T48A probably benign Het
Gm6619 T G 6: 131,467,354 (GRCm39) I73S possibly damaging Het
Gm8267 T A 14: 44,960,397 (GRCm39) D116V probably damaging Het
Hapln3 T A 7: 78,767,017 (GRCm39) T341S probably benign Het
Lamb3 C A 1: 193,014,474 (GRCm39) D544E possibly damaging Het
Lhx5 T A 5: 120,578,349 (GRCm39) S390T probably benign Het
Lrrc63 A G 14: 75,363,697 (GRCm39) S145P possibly damaging Het
Lrriq1 T C 10: 103,050,380 (GRCm39) M791V probably benign Het
Lyg2 A G 1: 37,950,218 (GRCm39) Y37H possibly damaging Het
Lyz3 G A 10: 117,074,602 (GRCm39) probably benign Het
Nrbp1 T A 5: 31,402,300 (GRCm39) M172K probably damaging Het
Or2l13b T G 16: 19,349,650 (GRCm39) S7R probably benign Het
Or4c126 A G 2: 89,824,183 (GRCm39) I149V probably benign Het
Or8u9 T A 2: 86,001,354 (GRCm39) D269V probably damaging Het
Pcyt2 A T 11: 120,502,209 (GRCm39) Y308N possibly damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Phf21b A G 15: 84,689,104 (GRCm39) S141P probably damaging Het
Pigh G A 12: 79,136,324 (GRCm39) P24S probably benign Het
Plekhg3 A G 12: 76,623,259 (GRCm39) D834G probably damaging Het
Plekhg5 T A 4: 152,198,392 (GRCm39) V860D probably benign Het
Pon1 A G 6: 5,177,399 (GRCm39) I170T probably damaging Het
Ptpn9 T A 9: 56,934,717 (GRCm39) Y160* probably null Het
Ptprj T C 2: 90,280,163 (GRCm39) K1045R possibly damaging Het
Rilpl2 T A 5: 124,601,851 (GRCm39) H196L probably benign Het
Rnf112 C T 11: 61,341,854 (GRCm39) V317I possibly damaging Het
Rundc3a G T 11: 102,290,872 (GRCm39) probably null Het
Sgsm1 T C 5: 113,422,187 (GRCm39) Y489C probably damaging Het
Sis G A 3: 72,816,374 (GRCm39) H1531Y possibly damaging Het
Slc26a9 A G 1: 131,690,556 (GRCm39) Y520C probably damaging Het
Smc5 A G 19: 23,220,064 (GRCm39) V467A probably damaging Het
Spata20 G A 11: 94,374,867 (GRCm39) A245V probably benign Het
Steap3 A C 1: 120,169,248 (GRCm39) F350V probably benign Het
Sucnr1 A G 3: 59,994,117 (GRCm39) Q215R probably benign Het
Supv3l1 G A 10: 62,266,394 (GRCm39) A594V probably damaging Het
Swt1 A T 1: 151,286,815 (GRCm39) F226I probably benign Het
Taar7f A G 10: 23,925,885 (GRCm39) T160A possibly damaging Het
Tada2a A T 11: 84,017,812 (GRCm39) probably null Het
Taok3 C A 5: 117,388,974 (GRCm39) Q460K probably damaging Het
Tasor T A 14: 27,193,602 (GRCm39) V934E probably damaging Het
Twf2 A G 9: 106,091,597 (GRCm39) E268G probably damaging Het
Upf2 A T 2: 6,023,743 (GRCm39) I698F unknown Het
Vmn2r35 T A 7: 7,820,013 (GRCm39) N86Y probably damaging Het
Vmn2r84 T C 10: 130,227,982 (GRCm39) T85A possibly damaging Het
Vps13d A G 4: 144,832,426 (GRCm39) S2833P Het
Zfp354b T C 11: 50,813,224 (GRCm39) Y567C probably damaging Het
Zfp52 A T 17: 21,781,132 (GRCm39) R327* probably null Het
Other mutations in Xrn1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TAGTGTGCTAAGAGAGGAGCCC -3'
(R):5'- AGTCAGTACTGGTTCTTCTTAGTAG -3'

Sequencing Primer
(F):5'- CCCAGGGCTGACTGATACAATAG -3'
(R):5'- TGAACTGACTGTGCACTC -3'
Posted On 2019-10-07