Incidental Mutation 'IGL02524:Rrp7a'
ID297008
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: 0.929) question?
Stock #IGL02524
Quality Score
Status
Chromosome15
Chromosomal Location83113433-83122801 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 83118178 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000018184] [ENSMUST00000078218] [ENSMUST00000166019] [ENSMUST00000166427] [ENSMUST00000167483]
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: ENSMUST00000167750
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169461
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
4930415O20Rik G A 15: 98,571,125 probably null Het
Abca8a A G 11: 110,078,815 probably benign Het
Acvr1 T C 2: 58,448,307 probably benign Het
Asap3 A T 4: 136,238,616 T453S probably damaging Het
Ccdc110 C T 8: 45,941,942 P290L probably benign Het
Ccdc127 A G 13: 74,352,897 N11S probably damaging Het
Cd80 T C 16: 38,482,683 V164A probably benign Het
Ctnna3 T C 10: 64,260,826 I381T possibly damaging Het
Epha7 A T 4: 28,821,494 T220S possibly damaging Het
Etnppl A G 3: 130,630,671 probably benign Het
Far2 T A 6: 148,150,658 L145Q probably damaging Het
Fdxr A G 11: 115,271,260 probably null Het
Jmy A G 13: 93,472,760 V347A probably damaging Het
Kcns2 A G 15: 34,838,835 I115V probably benign Het
Kif2a A G 13: 106,964,355 L627S possibly damaging Het
Krtap26-1 A G 16: 88,647,479 S85P possibly damaging Het
Ldlr C A 9: 21,733,681 D168E probably damaging Het
Lrrc8e T G 8: 4,235,392 L539R probably damaging Het
Mmp8 A G 9: 7,560,505 E61G probably damaging Het
Msh2 T C 17: 87,678,357 F121L probably benign Het
Myh4 A G 11: 67,249,240 K638E possibly damaging Het
Ndufaf6 A G 4: 11,059,091 F246S probably benign Het
Nynrin C T 14: 55,871,474 A1346V possibly damaging Het
Olfr1055 A C 2: 86,347,342 C141W probably damaging Het
P2rx1 C T 11: 73,009,648 P196L probably damaging Het
Pbx3 T C 2: 34,370,818 probably benign Het
Psen2 A T 1: 180,245,667 S30T probably benign Het
Rack1 T C 11: 48,803,471 V166A probably benign Het
Rpgrip1 A G 14: 52,121,054 T206A probably benign Het
Slco1b2 C T 6: 141,671,072 T377I probably benign Het
Sult2a6 A T 7: 14,236,686 S162T possibly damaging Het
Syt2 A G 1: 134,741,965 K115E probably benign Het
Tet1 A G 10: 62,878,646 S457P probably damaging Het
Trbv3 A G 6: 41,048,665 E63G possibly damaging Het
Unc13d T C 11: 116,070,319 Y404C probably damaging Het
Usp32 G A 11: 85,010,011 R1128* probably null Het
Vps4a G A 8: 107,036,751 probably benign Het
Ythdc2 T A 18: 44,847,854 H505Q probably damaging Het
Ywhab T A 2: 164,016,137 L208Q probably damaging Het
Zfyve16 T C 13: 92,504,514 K1241E probably benign Het
Other mutations in Rrp7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Rrp7a APN 15 83118081 missense probably benign 0.34
IGL02335:Rrp7a APN 15 83122691 missense probably benign 0.00
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
Z1177:Rrp7a UTSW 15 83122138 intron probably benign
Posted On2015-04-16