Incidental Mutation 'R7297:Exosc5'
ID 566737
Institutional Source Beutler Lab
Gene Symbol Exosc5
Ensembl Gene ENSMUSG00000061286
Gene Name exosome component 5
Synonyms D7Wsu180e
MMRRC Submission 045401-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R7297 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 25358578-25367457 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25365751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 200 (L200P)
Ref Sequence ENSEMBL: ENSMUSP00000078580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079439] [ENSMUST00000079634] [ENSMUST00000108404] [ENSMUST00000108405] [ENSMUST00000205743] [ENSMUST00000205966] [ENSMUST00000206561]
AlphaFold Q9CRA8
Predicted Effect probably benign
Transcript: ENSMUST00000079439
SMART Domains Protein: ENSMUSP00000078407
Gene: ENSMUSG00000061702

DomainStartEndE-ValueType
low complexity region 74 85 N/A INTRINSIC
Pfam:CD225 86 158 2.9e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079634
AA Change: L200P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000078580
Gene: ENSMUSG00000061286
AA Change: L200P

DomainStartEndE-ValueType
Pfam:RNase_PH 27 147 1.3e-25 PFAM
Pfam:RNase_PH_C 150 216 2.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108404
SMART Domains Protein: ENSMUSP00000104041
Gene: ENSMUSG00000061702

DomainStartEndE-ValueType
Pfam:Dispanin 82 121 1.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108405
SMART Domains Protein: ENSMUSP00000104042
Gene: ENSMUSG00000061702

DomainStartEndE-ValueType
Pfam:Dispanin 82 134 6.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150883
SMART Domains Protein: ENSMUSP00000115089
Gene: ENSMUSG00000061702

DomainStartEndE-ValueType
Pfam:CD225 32 68 5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205743
Predicted Effect probably benign
Transcript: ENSMUST00000205966
Predicted Effect probably benign
Transcript: ENSMUST00000206561
AA Change: L200P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,332,088 (GRCm39) D1400G probably benign Het
Abca6 C T 11: 110,073,852 (GRCm39) probably null Het
Adh4 A G 3: 138,134,901 (GRCm39) I358M possibly damaging Het
Akap6 T G 12: 52,934,147 (GRCm39) D546E probably benign Het
Arap3 G A 18: 38,106,616 (GRCm39) A1409V possibly damaging Het
Arhgap22 C T 14: 32,993,890 (GRCm39) R68* probably null Het
Arhgef4 A T 1: 34,846,273 (GRCm39) D207V probably damaging Het
Asb15 A G 6: 24,566,462 (GRCm39) T472A probably damaging Het
Ascl1 A T 10: 87,328,326 (GRCm39) S209T probably damaging Het
Asxl1 T C 2: 153,239,355 (GRCm39) V382A probably benign Het
Atp11a T C 8: 12,856,774 (GRCm39) probably null Het
Calu C T 6: 29,356,554 (GRCm39) R27* probably null Het
Cdh20 A G 1: 104,898,598 (GRCm39) T442A probably benign Het
Chrm3 T A 13: 9,927,869 (GRCm39) Q389L probably benign Het
Cntnap1 A G 11: 101,079,460 (GRCm39) T1233A probably benign Het
Cwc15 G A 9: 14,421,525 (GRCm39) C197Y probably damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dennd3 C T 15: 73,429,459 (GRCm39) T914I probably damaging Het
Dlx3 C A 11: 95,011,276 (GRCm39) Y43* probably null Het
Dnah17 A T 11: 117,946,556 (GRCm39) probably null Het
Dnah17 A G 11: 117,994,182 (GRCm39) F1081S probably damaging Het
Dpp10 G A 1: 123,281,157 (GRCm39) Q631* probably null Het
Dsel T A 1: 111,789,506 (GRCm39) D343V probably damaging Het
Efcab12 T C 6: 115,787,997 (GRCm39) D655G possibly damaging Het
Epha8 T A 4: 136,673,224 (GRCm39) I187L probably damaging Het
Exosc10 A G 4: 148,664,834 (GRCm39) K781E probably damaging Het
Faiml T C 9: 99,111,666 (GRCm39) E131G probably damaging Het
Gm5145 G A 17: 20,790,993 (GRCm39) V124I probably benign Het
Grm7 T C 6: 110,622,974 (GRCm39) V49A probably benign Het
Gtf2e1 T C 16: 37,356,427 (GRCm39) D35G probably damaging Het
Heatr1 C T 13: 12,435,941 (GRCm39) Q1160* probably null Het
Herc2 T A 7: 55,786,406 (GRCm39) C1584S probably benign Het
Hsd17b3 T C 13: 64,224,165 (GRCm39) I88V probably damaging Het
Hspa14 A C 2: 3,499,179 (GRCm39) L205R possibly damaging Het
Ifna11 A C 4: 88,738,662 (GRCm39) E156A possibly damaging Het
Krt87 T C 15: 101,387,528 (GRCm39) D170G probably benign Het
Mas1 T C 17: 13,060,745 (GRCm39) Y226C probably damaging Het
Micall1 T C 15: 79,005,097 (GRCm39) F190L unknown Het
Msi2 A T 11: 88,370,864 (GRCm39) L141Q probably damaging Het
Nfkbib T C 7: 28,465,768 (GRCm39) D27G probably benign Het
Nlrp9b A G 7: 19,783,438 (GRCm39) D927G possibly damaging Het
Nrg3 T C 14: 38,092,896 (GRCm39) D579G probably benign Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or8d1 G A 9: 38,767,245 (GRCm39) D296N probably damaging Het
Or8h6 A T 2: 86,703,980 (GRCm39) V29E probably damaging Het
Parp4 C T 14: 56,885,138 (GRCm39) P1406S not run Het
Pkib A T 10: 57,612,422 (GRCm39) Q101L possibly damaging Het
Plat C T 8: 23,265,713 (GRCm39) T252I probably benign Het
Ppm1d A T 11: 85,236,821 (GRCm39) E533D probably damaging Het
Psd3 T C 8: 68,573,686 (GRCm39) K165R probably damaging Het
Psg29 T A 7: 16,944,616 (GRCm39) Y375* probably null Het
Pus7 A T 5: 23,946,908 (GRCm39) I644N probably damaging Het
Rbbp9 A T 2: 144,385,722 (GRCm39) M181K probably benign Het
Rell1 A T 5: 64,093,418 (GRCm39) N112K possibly damaging Het
Simc1 AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG 13: 54,673,048 (GRCm39) probably benign Het
Skint5 G A 4: 113,400,131 (GRCm39) T1184M unknown Het
Slc27a2 T A 2: 126,420,866 (GRCm39) D452E probably damaging Het
Slc44a4 T A 17: 35,146,888 (GRCm39) I489N probably damaging Het
Slfn14 T A 11: 83,169,821 (GRCm39) K608* probably null Het
Snx15 T A 19: 6,170,537 (GRCm39) I301F probably damaging Het
Sost C T 11: 101,854,929 (GRCm39) G127R probably damaging Het
Stt3b A G 9: 115,106,025 (GRCm39) I150T probably damaging Het
Susd2 T C 10: 75,478,402 (GRCm39) D58G probably benign Het
Tex46 T G 4: 136,340,212 (GRCm39) V99G probably damaging Het
Tgfbi T A 13: 56,779,926 (GRCm39) F492I possibly damaging Het
Tmem132c G A 5: 127,437,281 (GRCm39) A257T probably benign Het
Trim2 A T 3: 84,117,540 (GRCm39) I51K probably damaging Het
Tsn A T 1: 118,228,591 (GRCm39) Y210* probably null Het
Umodl1 G A 17: 31,227,639 (GRCm39) R1324H probably benign Het
Utp3 G C 5: 88,702,376 (GRCm39) probably benign Het
Vmn1r5 A T 6: 56,963,204 (GRCm39) N293I possibly damaging Het
Vmn2r124 A T 17: 18,293,835 (GRCm39) I641F probably damaging Het
Vmn2r84 T C 10: 130,227,119 (GRCm39) N240D probably benign Het
Wbp1l A G 19: 46,642,839 (GRCm39) D264G possibly damaging Het
Other mutations in Exosc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02582:Exosc5 APN 7 25,364,988 (GRCm39) critical splice donor site probably null
IGL02730:Exosc5 APN 7 25,362,622 (GRCm39) missense possibly damaging 0.92
R2267:Exosc5 UTSW 7 25,363,809 (GRCm39) missense possibly damaging 0.89
R5251:Exosc5 UTSW 7 25,367,180 (GRCm39) missense probably damaging 1.00
R7175:Exosc5 UTSW 7 25,363,794 (GRCm39) missense probably damaging 0.96
R7448:Exosc5 UTSW 7 25,358,734 (GRCm39) missense probably benign
R8188:Exosc5 UTSW 7 25,358,790 (GRCm39) missense probably damaging 1.00
R8190:Exosc5 UTSW 7 25,365,769 (GRCm39) critical splice donor site probably null
R8922:Exosc5 UTSW 7 25,363,673 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCCATGGTATTGCCTTGCC -3'
(R):5'- TGTGCGTGTCATGCAAGAC -3'

Sequencing Primer
(F):5'- TGACCAGCACTGTGGTTC -3'
(R):5'- GTGTCATGCAAGACCTTCATGAC -3'
Posted On 2019-06-26