Incidental Mutation 'IGL01073:Rrp7a'
ID52772
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rrp7a
Ensembl Gene ENSMUSG00000018040
Gene Nameribosomal RNA processing 7 homolog A (S. cerevisiae)
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.837) question?
Stock #IGL01073
Quality Score
Status
Chromosome15
Chromosomal Location83113433-83122801 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 83118081 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 185 (A185V)
Ref Sequence ENSEMBL: ENSMUSP00000018184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018184] [ENSMUST00000078218] [ENSMUST00000166019] [ENSMUST00000166427] [ENSMUST00000167483]
Predicted Effect probably benign
Transcript: ENSMUST00000018184
AA Change: A185V

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000018184
Gene: ENSMUSG00000018040
AA Change: A185V

DomainStartEndE-ValueType
SCOP:d1l3ka1 56 140 2e-6 SMART
Pfam:RRP7 151 280 8.3e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078218
SMART Domains Protein: ENSMUSP00000077345
Gene: ENSMUSG00000058586

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 28 282 1.4e-10 PFAM
Pfam:Abhydrolase_6 29 295 2.9e-28 PFAM
Pfam:Abhydrolase_1 53 260 1.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166019
SMART Domains Protein: ENSMUSP00000129142
Gene: ENSMUSG00000018040

DomainStartEndE-ValueType
SCOP:d1l3ka1 71 144 4e-5 SMART
Blast:RRM 75 145 1e-38 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000166427
SMART Domains Protein: ENSMUSP00000132686
Gene: ENSMUSG00000058586

DomainStartEndE-ValueType
Pfam:Hydrolase_4 33 194 7.4e-11 PFAM
Pfam:Abhydrolase_1 37 299 4e-20 PFAM
Pfam:Abhydrolase_5 38 292 4.4e-10 PFAM
Pfam:Abhydrolase_6 39 305 6.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166766
SMART Domains Protein: ENSMUSP00000127001
Gene: ENSMUSG00000018040

DomainStartEndE-ValueType
Pfam:RRP7 1 51 8.9e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167483
SMART Domains Protein: ENSMUSP00000128380
Gene: ENSMUSG00000018040

DomainStartEndE-ValueType
SCOP:d1l3ka1 56 90 6e-5 SMART
Blast:RRM 60 114 1e-25 BLAST
low complexity region 122 143 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167750
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169461
Predicted Effect probably benign
Transcript: ENSMUST00000169814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170891
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd24 A G 10: 81,639,322 D110G possibly damaging Het
Ccnd3 A G 17: 47,594,845 T104A probably benign Het
Cntnap5b A T 1: 100,076,030 D245V probably benign Het
Cryab A G 9: 50,754,555 K82R probably damaging Het
Dnmt3b G A 2: 153,670,842 probably benign Het
Eif2b5 A T 16: 20,500,296 K99* probably null Het
Fam222b A G 11: 78,154,488 I292V probably damaging Het
Itpr1 A C 6: 108,413,820 N1560T probably benign Het
Lca5 T A 9: 83,395,475 K605N probably damaging Het
Letm1 T C 5: 33,748,800 D424G possibly damaging Het
Mtif3 C A 5: 146,958,980 R99L probably damaging Het
Nrxn3 A G 12: 89,254,740 M430V probably benign Het
Olfr1226 A T 2: 89,193,137 L299Q possibly damaging Het
Pgap2 T A 7: 102,226,454 probably benign Het
Phf11c A T 14: 59,389,348 S129T probably benign Het
Ptpro A G 6: 137,377,088 N154S probably damaging Het
Rfng C T 11: 120,783,921 R81H probably benign Het
Rnf38 A G 4: 44,137,645 M280T probably benign Het
Slc22a2 C A 17: 12,584,349 F23L probably benign Het
Slc35f1 A G 10: 53,021,960 T156A probably benign Het
Slfn1 A T 11: 83,121,337 Y93F probably benign Het
Snrnp200 A T 2: 127,214,912 probably benign Het
Sos1 A G 17: 80,422,747 F701S probably damaging Het
Tmem203 A C 2: 25,255,724 I19L probably benign Het
Usp8 A T 2: 126,718,114 K18N probably damaging Het
Vmn2r115 G A 17: 23,345,997 R286K probably benign Het
Vmn2r23 A C 6: 123,712,800 T212P possibly damaging Het
Other mutations in Rrp7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02335:Rrp7a APN 15 83122691 missense probably benign 0.00
IGL02524:Rrp7a APN 15 83118178 unclassified probably benign
R4944:Rrp7a UTSW 15 83119809 unclassified probably benign
R6284:Rrp7a UTSW 15 83121860 missense probably damaging 1.00
R7284:Rrp7a UTSW 15 83121870 missense probably damaging 0.96
R7548:Rrp7a UTSW 15 83117670 missense possibly damaging 0.85
R8018:Rrp7a UTSW 15 83116924 missense possibly damaging 0.49
R8437:Rrp7a UTSW 15 83117572 missense probably damaging 1.00
Z1177:Rrp7a UTSW 15 83122138 intron probably benign
Posted On2013-06-21