Incidental Mutation 'R5875:Exosc9'
ID 455442
Institutional Source Beutler Lab
Gene Symbol Exosc9
Ensembl Gene ENSMUSG00000027714
Gene Name exosome component 9
Synonyms p5, PM/Scl-75, p6, Pmscl1, RRP45
MMRRC Submission 044082-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5875 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 36606755-36619876 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 36615342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000029269] [ENSMUST00000029270] [ENSMUST00000136890] [ENSMUST00000147380] [ENSMUST00000155866] [ENSMUST00000196316]
AlphaFold Q9JHI7
Predicted Effect probably null
Transcript: ENSMUST00000029269
SMART Domains Protein: ENSMUSP00000029269
Gene: ENSMUSG00000027714

DomainStartEndE-ValueType
Pfam:RNase_PH 31 163 1.7e-25 PFAM
Pfam:RNase_PH_C 189 255 3.4e-14 PFAM
low complexity region 308 324 N/A INTRINSIC
low complexity region 348 366 N/A INTRINSIC
low complexity region 396 406 N/A INTRINSIC
low complexity region 425 435 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000029270
SMART Domains Protein: ENSMUSP00000029270
Gene: ENSMUSG00000027715

DomainStartEndE-ValueType
Pfam:Cyclin_N2 22 157 7.2e-50 PFAM
CYCLIN 206 290 1.07e-28 SMART
Cyclin_C 299 417 4.09e-31 SMART
CYCLIN 303 386 1.02e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131316
SMART Domains Protein: ENSMUSP00000117235
Gene: ENSMUSG00000027714

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
low complexity region 47 65 N/A INTRINSIC
low complexity region 95 105 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133854
Predicted Effect probably benign
Transcript: ENSMUST00000136890
SMART Domains Protein: ENSMUSP00000121047
Gene: ENSMUSG00000027714

DomainStartEndE-ValueType
Pfam:RNase_PH 1 79 3e-16 PFAM
Pfam:RNase_PH_C 105 147 3.3e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138636
Predicted Effect probably benign
Transcript: ENSMUST00000147380
Predicted Effect probably benign
Transcript: ENSMUST00000155866
SMART Domains Protein: ENSMUSP00000122189
Gene: ENSMUSG00000027714

DomainStartEndE-ValueType
Pfam:RNase_PH 31 163 2.6e-25 PFAM
Pfam:RNase_PH_C 189 241 1e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000156100
Predicted Effect probably null
Transcript: ENSMUST00000156100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149041
Predicted Effect probably benign
Transcript: ENSMUST00000196316
SMART Domains Protein: ENSMUSP00000142946
Gene: ENSMUSG00000027715

DomainStartEndE-ValueType
CYCLIN 69 153 6.6e-31 SMART
Cyclin_C 162 280 2e-35 SMART
CYCLIN 166 249 6.1e-14 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 91.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik A G 2: 127,028,737 (GRCm39) V154A possibly damaging Het
Abcc1 A G 16: 14,284,901 (GRCm39) E1250G possibly damaging Het
Ajap1 A C 4: 153,516,798 (GRCm39) I181R probably damaging Het
Akap9 A G 5: 4,127,285 (GRCm39) Y3711C probably benign Het
Ark2c T C 18: 77,650,877 (GRCm39) probably benign Het
Arl1 T C 10: 88,577,841 (GRCm39) S137P probably benign Het
Atp6v0a2 G A 5: 124,793,391 (GRCm39) V583I probably benign Het
Cdca7 T A 2: 72,313,901 (GRCm39) M230K probably benign Het
Chd9 A T 8: 91,778,464 (GRCm39) D2841V probably damaging Het
Chp1 T A 2: 119,402,296 (GRCm39) F90Y probably damaging Het
Ckap5 A G 2: 91,391,206 (GRCm39) T345A probably benign Het
Clca4b A C 3: 144,628,650 (GRCm39) S352R probably benign Het
Cmya5 A G 13: 93,231,692 (GRCm39) V1132A probably benign Het
Crb2 T A 2: 37,677,266 (GRCm39) probably null Het
Crhbp A G 13: 95,580,304 (GRCm39) F99L probably benign Het
Dnmt3l A T 10: 77,889,772 (GRCm39) M210L probably benign Het
Dyrk2 T A 10: 118,696,602 (GRCm39) R219W probably damaging Het
Exosc1 A G 19: 41,916,542 (GRCm39) I78T probably damaging Het
Frmd5 A G 2: 121,388,959 (GRCm39) probably benign Het
Gata2 T C 6: 88,179,473 (GRCm39) L315P probably damaging Het
Gm17067 G A 7: 42,357,470 (GRCm39) T344I probably benign Het
Gm4884 A T 7: 40,692,360 (GRCm39) T110S possibly damaging Het
Hapln3 T C 7: 78,771,721 (GRCm39) E56G probably benign Het
Helq A C 5: 100,944,336 (GRCm39) I258S probably damaging Het
Hoxd10 T C 2: 74,522,426 (GRCm39) Y35H possibly damaging Het
Inpp5b T C 4: 124,674,199 (GRCm39) V302A possibly damaging Het
Inpp5d T A 1: 87,645,696 (GRCm39) I1027N possibly damaging Het
Ints2 T C 11: 86,129,138 (GRCm39) S482G probably benign Het
Itih1 C T 14: 30,651,487 (GRCm39) V902I probably benign Het
Jkampl T C 6: 73,446,028 (GRCm39) I174V possibly damaging Het
Kctd16 T A 18: 40,390,447 (GRCm39) probably benign Het
Kif27 T C 13: 58,458,918 (GRCm39) N971S probably benign Het
Klra17 T C 6: 129,851,791 (GRCm39) D27G probably benign Het
Leo1 G C 9: 75,357,842 (GRCm39) R412S probably damaging Het
Lonrf2 T C 1: 38,846,128 (GRCm39) N348S probably benign Het
Lpp G A 16: 24,427,059 (GRCm39) G62E probably benign Het
Lyn G A 4: 3,745,631 (GRCm39) probably null Het
Macf1 T A 4: 123,326,107 (GRCm39) N5128I possibly damaging Het
Mapk7 T A 11: 61,384,524 (GRCm39) I61L probably benign Het
Mindy1 T C 3: 95,202,125 (GRCm39) V334A probably damaging Het
Muc20 G A 16: 32,614,189 (GRCm39) T396I possibly damaging Het
Myo5b A T 18: 74,840,973 (GRCm39) probably null Het
Noc4l A C 5: 110,799,176 (GRCm39) probably null Het
Oas1c A G 5: 120,943,627 (GRCm39) Y171H probably damaging Het
Pclo A T 5: 14,730,614 (GRCm39) probably benign Het
Pmpcb G A 5: 21,947,944 (GRCm39) E216K probably benign Het
Pskh1 G A 8: 106,639,731 (GRCm39) R137Q possibly damaging Het
Ptprb T G 10: 116,184,071 (GRCm39) W1628G probably benign Het
Ranbp3 T A 17: 57,014,955 (GRCm39) probably null Het
Sart1 T C 19: 5,433,823 (GRCm39) D338G probably damaging Het
Scn8a T A 15: 100,870,703 (GRCm39) Y251* probably null Het
Sdk2 G T 11: 113,720,885 (GRCm39) T1348K probably benign Het
Sec16a A G 2: 26,323,379 (GRCm39) Y1272H probably damaging Het
Slc26a1 A T 5: 108,819,903 (GRCm39) L432Q probably damaging Het
Susd1 A T 4: 59,412,203 (GRCm39) F117I possibly damaging Het
Taf5 A T 19: 47,064,549 (GRCm39) Y465F probably damaging Het
Tcstv1a T A 13: 120,355,630 (GRCm39) M1L probably benign Het
Tectb A G 19: 55,178,058 (GRCm39) D193G possibly damaging Het
Tex56 T G 13: 35,116,429 (GRCm39) C59W probably damaging Het
Tirap G A 9: 35,100,465 (GRCm39) P73L probably damaging Het
Tm6sf2 A G 8: 70,528,039 (GRCm39) D86G possibly damaging Het
Tmem161b A T 13: 84,442,977 (GRCm39) H481L probably damaging Het
Tnrc6c G A 11: 117,650,534 (GRCm39) V1763I probably damaging Het
Ubxn1 T C 19: 8,849,584 (GRCm39) S75P probably benign Het
Uhrf2 A G 19: 30,066,702 (GRCm39) K709E probably damaging Het
Vmn2r101 T A 17: 19,809,092 (GRCm39) Y74N probably damaging Het
Xirp2 A G 2: 67,335,424 (GRCm39) E81G probably benign Het
Zbtb45 A G 7: 12,742,237 (GRCm39) V7A possibly damaging Het
Zfp668 C A 7: 127,465,474 (GRCm39) R570L possibly damaging Het
Zmiz1 T A 14: 25,636,390 (GRCm39) M125K possibly damaging Het
Zmiz2 T C 11: 6,355,072 (GRCm39) L913P probably damaging Het
Other mutations in Exosc9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Exosc9 APN 3 36,607,288 (GRCm39) unclassified probably benign
IGL00949:Exosc9 APN 3 36,617,415 (GRCm39) unclassified probably benign
IGL01718:Exosc9 APN 3 36,608,078 (GRCm39) unclassified probably benign
IGL02072:Exosc9 APN 3 36,608,821 (GRCm39) missense probably damaging 1.00
IGL02217:Exosc9 APN 3 36,606,893 (GRCm39) missense probably damaging 0.99
IGL02439:Exosc9 APN 3 36,607,180 (GRCm39) unclassified probably benign
IGL02871:Exosc9 APN 3 36,619,430 (GRCm39) missense probably benign 0.00
IGL02994:Exosc9 APN 3 36,607,287 (GRCm39) unclassified probably benign
IGL03144:Exosc9 APN 3 36,608,284 (GRCm39) missense probably damaging 1.00
R0909:Exosc9 UTSW 3 36,608,853 (GRCm39) missense probably damaging 1.00
R1192:Exosc9 UTSW 3 36,606,904 (GRCm39) unclassified probably benign
R2516:Exosc9 UTSW 3 36,617,311 (GRCm39) missense probably benign
R4288:Exosc9 UTSW 3 36,617,365 (GRCm39) missense probably benign
R4770:Exosc9 UTSW 3 36,607,984 (GRCm39) missense probably damaging 0.98
R5928:Exosc9 UTSW 3 36,609,774 (GRCm39) intron probably benign
R6120:Exosc9 UTSW 3 36,608,821 (GRCm39) missense probably damaging 1.00
R7077:Exosc9 UTSW 3 36,607,205 (GRCm39) missense probably damaging 1.00
R7340:Exosc9 UTSW 3 36,615,297 (GRCm39) missense possibly damaging 0.86
R7443:Exosc9 UTSW 3 36,607,990 (GRCm39) missense probably damaging 1.00
R7917:Exosc9 UTSW 3 36,607,968 (GRCm39) missense probably damaging 0.99
R8735:Exosc9 UTSW 3 36,609,662 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCTGTATTCCTGAGCACAC -3'
(R):5'- CTCAAGTCAGCTGTAGGGGAAG -3'

Sequencing Primer
(F):5'- GAGCACACTTTATCTGTGATCTCTG -3'
(R):5'- TTGAGCGGCAAACCAGC -3'
Posted On 2017-02-10