Incidental Mutation 'R6534:Exosc7'
ID 520295
Institutional Source Beutler Lab
Gene Symbol Exosc7
Ensembl Gene ENSMUSG00000025785
Gene Name exosome component 7
Synonyms 2610002K22Rik
MMRRC Submission 044660-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R6534 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 122942310-122965194 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122961077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 248 (D248G)
Ref Sequence ENSEMBL: ENSMUSP00000026891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026891] [ENSMUST00000215377]
AlphaFold Q9D0M0
Predicted Effect probably benign
Transcript: ENSMUST00000026891
AA Change: D248G

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000026891
Gene: ENSMUSG00000025785
AA Change: D248G

DomainStartEndE-ValueType
Pfam:RNase_PH 31 166 5.8e-27 PFAM
Pfam:RNase_PH_C 196 262 1.4e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214741
Predicted Effect probably benign
Transcript: ENSMUST00000215377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215590
Meta Mutation Damage Score 0.1446 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer3 A T 7: 97,875,655 (GRCm39) L142M probably benign Het
Adgrb2 T C 4: 129,916,012 (GRCm39) F1435L probably damaging Het
Anapc13 T C 9: 102,511,292 (GRCm39) L60P probably damaging Het
Apaf1 T C 10: 90,891,862 (GRCm39) D497G probably damaging Het
Arpc1b A T 5: 145,059,377 (GRCm39) I34F probably damaging Het
Atp2a2 A T 5: 122,595,261 (GRCm39) W1030R possibly damaging Het
Cdk5rap2 T C 4: 70,273,050 (GRCm39) E241G probably damaging Het
Cyp4a14 T A 4: 115,347,156 (GRCm39) probably null Het
Ddx10 A G 9: 53,134,988 (GRCm39) Y399H probably damaging Het
Dnah9 T C 11: 65,846,074 (GRCm39) E2988G probably damaging Het
Dock10 T C 1: 80,481,388 (GRCm39) I536M probably benign Het
Drc7 T C 8: 95,797,910 (GRCm39) Y443H probably damaging Het
Ecel1 A G 1: 87,082,564 (GRCm39) S50P probably benign Het
Esco1 T A 18: 10,594,794 (GRCm39) Q164L possibly damaging Het
Galnt3 A G 2: 65,932,875 (GRCm39) L201P probably damaging Het
Hand2 C A 8: 57,775,071 (GRCm39) H44N probably benign Het
Kcnq1 C T 7: 142,748,064 (GRCm39) P411S probably benign Het
Lonp2 A G 8: 87,443,086 (GRCm39) D429G probably benign Het
Magi3 A G 3: 103,992,536 (GRCm39) I312T possibly damaging Het
Mansc4 A T 6: 146,988,371 (GRCm39) I31N probably damaging Het
Mill2 T A 7: 18,590,521 (GRCm39) D200E possibly damaging Het
Or5d47 G A 2: 87,804,385 (GRCm39) A208V probably benign Het
Pde4d A G 13: 109,769,435 (GRCm39) K41R probably benign Het
Pik3r5 G A 11: 68,381,443 (GRCm39) D210N possibly damaging Het
Plcl1 C T 1: 55,735,907 (GRCm39) T416I probably damaging Het
Plekhd1 T C 12: 80,754,031 (GRCm39) Y166H probably damaging Het
Prrc1 A G 18: 57,522,346 (GRCm39) T393A probably damaging Het
Scaper A T 9: 55,791,260 (GRCm39) C213S probably benign Het
Sfxn4 T C 19: 60,827,461 (GRCm39) I298V probably damaging Het
Slc36a2 A T 11: 55,075,693 (GRCm39) D31E probably benign Het
Stra6l G A 4: 45,860,041 (GRCm39) probably null Het
Tnpo3 A T 6: 29,572,702 (GRCm39) probably null Het
Tonsl A G 15: 76,513,877 (GRCm39) Y1231H probably damaging Het
Ush2a C A 1: 188,183,999 (GRCm39) Y1434* probably null Het
Zfp69 T C 4: 120,788,394 (GRCm39) Y307C probably benign Het
Other mutations in Exosc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01936:Exosc7 APN 9 122,964,956 (GRCm39) splice site probably benign
R0029:Exosc7 UTSW 9 122,948,302 (GRCm39) splice site probably benign
R0029:Exosc7 UTSW 9 122,948,302 (GRCm39) splice site probably benign
R0268:Exosc7 UTSW 9 122,948,025 (GRCm39) missense probably benign 0.08
R0319:Exosc7 UTSW 9 122,960,025 (GRCm39) unclassified probably benign
R0830:Exosc7 UTSW 9 122,948,358 (GRCm39) missense probably benign 0.00
R1593:Exosc7 UTSW 9 122,961,058 (GRCm39) missense probably benign
R5388:Exosc7 UTSW 9 122,947,972 (GRCm39) missense probably damaging 1.00
R6886:Exosc7 UTSW 9 122,965,023 (GRCm39) missense probably benign 0.04
R7313:Exosc7 UTSW 9 122,948,013 (GRCm39) missense probably benign 0.43
R7833:Exosc7 UTSW 9 122,959,984 (GRCm39) missense probably benign
R8313:Exosc7 UTSW 9 122,956,942 (GRCm39) missense probably damaging 0.96
R8981:Exosc7 UTSW 9 122,942,365 (GRCm39) missense probably benign
R9789:Exosc7 UTSW 9 122,959,990 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGATCTGAGAAGGCGTTTCTTG -3'
(R):5'- AAACAGTCACTAGCAGGGCC -3'

Sequencing Primer
(F):5'- CTGAGAAGGCGTTTCTTGTATAGTC -3'
(R):5'- TCACTAGCAGGGCCTGACG -3'
Posted On 2018-06-06