Incidental Mutation 'IGL02524:Rrp7a'
ID 297008
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rrp7a
Ensembl Gene ENSMUSG00000018040
Gene Name ribosomal RNA processing 7 homolog A
Synonyms 1110014J01Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # IGL02524
Quality Score
Status
Chromosome 15
Chromosomal Location 83000047-83007002 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 83002379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000018184] [ENSMUST00000078218] [ENSMUST00000166019] [ENSMUST00000166427] [ENSMUST00000167483]
AlphaFold Q9D1C9
Predicted Effect probably benign
Transcript: ENSMUST00000018184
SMART Domains Protein: ENSMUSP00000018184
Gene: ENSMUSG00000018040

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: ENSMUST00000169461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167750
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170891
Predicted Effect probably benign
Transcript: ENSMUST00000169814
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Acvr1 T C 2: 58,338,319 (GRCm39) probably benign Het
Asap3 A T 4: 135,965,927 (GRCm39) T453S probably damaging Het
Ccdc110 C T 8: 46,394,979 (GRCm39) P290L probably benign Het
Ccdc127 A G 13: 74,501,016 (GRCm39) N11S probably damaging Het
Cd80 T C 16: 38,303,045 (GRCm39) V164A probably benign Het
Ctnna3 T C 10: 64,096,605 (GRCm39) I381T possibly damaging Het
Epha7 A T 4: 28,821,494 (GRCm39) T220S possibly damaging Het
Etnppl A G 3: 130,424,320 (GRCm39) probably benign Het
Far2 T A 6: 148,052,156 (GRCm39) L145Q probably damaging Het
Fdxr A G 11: 115,162,086 (GRCm39) probably null Het
Jmy A G 13: 93,609,268 (GRCm39) V347A probably damaging Het
Kcns2 A G 15: 34,838,981 (GRCm39) I115V probably benign Het
Kif2a A G 13: 107,100,863 (GRCm39) L627S possibly damaging Het
Krtap26-1 A G 16: 88,444,367 (GRCm39) S85P possibly damaging Het
Ldlr C A 9: 21,644,977 (GRCm39) D168E probably damaging Het
Lrrc8e T G 8: 4,285,392 (GRCm39) L539R probably damaging Het
Mmp8 A G 9: 7,560,506 (GRCm39) E61G probably damaging Het
Msh2 T C 17: 87,985,785 (GRCm39) F121L probably benign Het
Myh4 A G 11: 67,140,066 (GRCm39) K638E possibly damaging Het
Ndufaf6 A G 4: 11,059,091 (GRCm39) F246S probably benign Het
Nynrin C T 14: 56,108,931 (GRCm39) A1346V possibly damaging Het
Or8k53 A C 2: 86,177,686 (GRCm39) C141W probably damaging Het
P2rx1 C T 11: 72,900,474 (GRCm39) P196L probably damaging Het
Pbx3 T C 2: 34,260,830 (GRCm39) probably benign Het
Psen2 A T 1: 180,073,232 (GRCm39) S30T probably benign Het
Rack1 T C 11: 48,694,298 (GRCm39) V166A probably benign Het
Rpgrip1 A G 14: 52,358,511 (GRCm39) T206A probably benign Het
Slco1b2 C T 6: 141,616,798 (GRCm39) T377I probably benign Het
Spmip11 G A 15: 98,469,006 (GRCm39) probably null Het
Sult2a6 A T 7: 13,970,611 (GRCm39) S162T possibly damaging Het
Syt2 A G 1: 134,669,703 (GRCm39) K115E probably benign Het
Tet1 A G 10: 62,714,425 (GRCm39) S457P probably damaging Het
Trbv3 A G 6: 41,025,599 (GRCm39) E63G possibly damaging Het
Unc13d T C 11: 115,961,145 (GRCm39) Y404C probably damaging Het
Usp32 G A 11: 84,900,837 (GRCm39) R1128* probably null Het
Vps4a G A 8: 107,763,383 (GRCm39) probably benign Het
Ythdc2 T A 18: 44,980,921 (GRCm39) H505Q probably damaging Het
Ywhab T A 2: 163,858,057 (GRCm39) L208Q probably damaging Het
Zfyve16 T C 13: 92,641,022 (GRCm39) K1241E probably benign Het
Other mutations in Rrp7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Rrp7a APN 15 83,002,282 (GRCm39) missense probably benign 0.34
IGL02335:Rrp7a APN 15 83,006,892 (GRCm39) missense probably benign 0.00
R4944:Rrp7a UTSW 15 83,004,010 (GRCm39) unclassified probably benign
R6284:Rrp7a UTSW 15 83,006,061 (GRCm39) missense probably damaging 1.00
R7284:Rrp7a UTSW 15 83,006,071 (GRCm39) missense probably damaging 0.96
R7548:Rrp7a UTSW 15 83,001,871 (GRCm39) missense possibly damaging 0.85
R8018:Rrp7a UTSW 15 83,001,125 (GRCm39) missense possibly damaging 0.49
R8437:Rrp7a UTSW 15 83,001,773 (GRCm39) missense probably damaging 1.00
R9445:Rrp7a UTSW 15 83,004,084 (GRCm39) nonsense probably null
R9650:Rrp7a UTSW 15 83,004,091 (GRCm39) critical splice donor site probably null
Z1177:Rrp7a UTSW 15 83,006,339 (GRCm39) intron probably benign
Posted On 2015-04-16