Incidental Mutation 'R8188:Exosc5'
ID 634979
Institutional Source Beutler Lab
Gene Symbol Exosc5
Ensembl Gene ENSMUSG00000061286
Gene Name exosome component 5
Synonyms D7Wsu180e
MMRRC Submission 067611-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R8188 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 25358578-25367457 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25358790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 44 (S44T)
Ref Sequence ENSEMBL: ENSMUSP00000078580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071329] [ENSMUST00000079634] [ENSMUST00000205743] [ENSMUST00000205966] [ENSMUST00000206561]
AlphaFold Q9CRA8
Predicted Effect probably benign
Transcript: ENSMUST00000071329
SMART Domains Protein: ENSMUSP00000071292
Gene: ENSMUSG00000060376

DomainStartEndE-ValueType
low complexity region 14 36 N/A INTRINSIC
Pfam:E1_dh 107 407 2.9e-117 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000079634
AA Change: S44T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078580
Gene: ENSMUSG00000061286
AA Change: S44T

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: ENSMUST00000205743
AA Change: S44T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably damaging
Transcript: ENSMUST00000205966
AA Change: S44T

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000206561
AA Change: S44T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 C G 4: 40,180,284 (GRCm39) A395G probably benign Het
Adgrf5 G A 17: 43,741,503 (GRCm39) C380Y probably damaging Het
Astn2 T C 4: 65,977,418 (GRCm39) T422A unknown Het
Baz1b G T 5: 135,233,916 (GRCm39) V148F probably benign Het
Bicd1 A C 6: 149,451,854 (GRCm39) S823R probably damaging Het
Bltp3b C T 10: 89,647,928 (GRCm39) T1330M possibly damaging Het
Blvra A C 2: 126,937,047 (GRCm39) S167R probably damaging Het
Camsap2 G T 1: 136,225,132 (GRCm39) probably null Het
Card14 T C 11: 119,228,623 (GRCm39) S650P probably damaging Het
Ccdc121rt2 A G 5: 112,597,993 (GRCm39) D180G possibly damaging Het
Cdh2 A G 18: 16,781,593 (GRCm39) I166T probably damaging Het
Cdnf T C 2: 3,514,228 (GRCm39) V22A probably benign Het
Cfhr4 T A 1: 139,625,868 (GRCm39) I869F probably damaging Het
Chd2 T A 7: 73,079,504 (GRCm39) K1799* probably null Het
Col20a1 G A 2: 180,658,126 (GRCm39) probably null Het
Cyp4a31 T C 4: 115,426,943 (GRCm39) I182T probably benign Het
Dap3 A T 3: 88,843,543 (GRCm39) F25L probably benign Het
Dcc T A 18: 71,943,928 (GRCm39) Y241F probably benign Het
Ddx46 A G 13: 55,814,029 (GRCm39) I662V possibly damaging Het
Dzip3 T C 16: 48,772,499 (GRCm39) D390G probably damaging Het
Eif1 A G 11: 100,211,624 (GRCm39) D55G probably benign Het
Fat2 A G 11: 55,163,997 (GRCm39) V3086A probably damaging Het
Fcamr T A 1: 130,730,665 (GRCm39) probably null Het
Gcg T C 2: 62,309,004 (GRCm39) D50G probably damaging Het
Gm7298 A G 6: 121,763,537 (GRCm39) probably null Het
Hfe A G 13: 23,892,175 (GRCm39) V63A probably damaging Het
Hoxd11 T A 2: 74,514,298 (GRCm39) I276N probably damaging Het
Htt T C 5: 34,919,287 (GRCm39) S13P probably benign Het
Il12a T A 3: 68,598,872 (GRCm39) C18S unknown Het
Itk G T 11: 46,222,776 (GRCm39) Y564* probably null Het
Lrrc46 A T 11: 96,931,705 (GRCm39) L39Q probably damaging Het
Myom3 T A 4: 135,507,231 (GRCm39) L537Q probably damaging Het
Nrap A C 19: 56,325,010 (GRCm39) Y1234* probably null Het
Or51q1 T C 7: 103,628,743 (GRCm39) S121P probably damaging Het
Or8b9 A T 9: 37,766,407 (GRCm39) M98L probably benign Het
Parn T C 16: 13,359,020 (GRCm39) D574G probably benign Het
Pbrm1 A G 14: 30,789,773 (GRCm39) I807V probably damaging Het
Pclo T A 5: 14,725,193 (GRCm39) S1350R unknown Het
Pira13 T C 7: 3,826,126 (GRCm39) H289R unknown Het
Plaa T C 4: 94,474,586 (GRCm39) Q272R probably damaging Het
Rfx6 T A 10: 51,594,292 (GRCm39) I174N probably benign Het
Ripk2 T A 4: 16,139,218 (GRCm39) K226N probably damaging Het
Scgb1b2 T C 7: 30,990,946 (GRCm39) D54G possibly damaging Het
Slc45a4 T C 15: 73,456,383 (GRCm39) Y599C probably benign Het
Slc7a13 T C 4: 19,819,082 (GRCm39) V94A probably benign Het
Slc7a8 A G 14: 54,972,579 (GRCm39) F281L probably benign Het
Slco4c1 T A 1: 96,772,261 (GRCm39) T243S probably damaging Het
Smim30 C T 6: 13,870,541 (GRCm39) G57E probably damaging Het
Stat5b A G 11: 100,692,262 (GRCm39) I174T probably damaging Het
Styk1 C A 6: 131,281,848 (GRCm39) V257L probably benign Het
Tmem268 T C 4: 63,498,209 (GRCm39) F210L probably damaging Het
Ugt2b35 T A 5: 87,149,302 (GRCm39) S184R probably damaging Het
Vps50 T A 6: 3,562,297 (GRCm39) L464* probably null Het
Zfhx2 A T 14: 55,301,898 (GRCm39) S2029T probably benign Het
Zfp235 T A 7: 23,841,296 (GRCm39) F572I probably damaging Het
Zfp280d T C 9: 72,267,615 (GRCm39) I766T probably benign Het
Zfr T G 15: 12,171,904 (GRCm39) C933W probably 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
R7297:Exosc5 UTSW 7 25,365,751 (GRCm39) missense probably benign 0.00
R7448:Exosc5 UTSW 7 25,358,734 (GRCm39) missense probably benign
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'- TTAGTAAACGCTGAGCCACGTG -3'
(R):5'- ATTTCTTCTCGAGACGGGAGG -3'

Sequencing Primer
(F):5'- GCATGCGCAATAGGTACGC -3'
(R):5'- CGGGAGGTGGGTATACTCAACATC -3'
Posted On 2020-07-13