Incidental Mutation 'IGL02335:Rrp7a'
ID289702
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: 0.911) question?
Stock #IGL02335
Quality Score
Status
Chromosome15
Chromosomal Location83113433-83122801 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 83122691 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 15 (E15G)
Ref Sequence ENSEMBL: ENSMUSP00000128380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018184] [ENSMUST00000058793] [ENSMUST00000100375] [ENSMUST00000166019] [ENSMUST00000167483]
Predicted Effect probably benign
Transcript: ENSMUST00000018184
AA Change: E15G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018184
Gene: ENSMUSG00000018040
AA Change: E15G

DomainStartEndE-ValueType
SCOP:d1l3ka1 56 140 2e-6 SMART
Pfam:RRP7 151 280 8.3e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058793
SMART Domains Protein: ENSMUSP00000054548
Gene: ENSMUSG00000041815

DomainStartEndE-ValueType
low complexity region 183 196 N/A INTRINSIC
low complexity region 214 223 N/A INTRINSIC
low complexity region 260 272 N/A INTRINSIC
RRM 281 347 5.05e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100375
SMART Domains Protein: ENSMUSP00000097944
Gene: ENSMUSG00000041815

DomainStartEndE-ValueType
low complexity region 154 167 N/A INTRINSIC
low complexity region 185 194 N/A INTRINSIC
low complexity region 231 243 N/A INTRINSIC
RRM 252 318 5.05e-11 SMART
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: ENSMUST00000167483
AA Change: E15G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000128380
Gene: ENSMUSG00000018040
AA Change: E15G

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A T 7: 140,296,540 N526Y probably damaging Het
A4gnt C T 9: 99,620,213 T142I probably benign Het
Acaca A G 11: 84,214,258 T147A possibly damaging Het
Agbl3 A G 6: 34,799,750 D397G probably damaging Het
Ank1 C T 8: 23,135,638 T1597M possibly damaging Het
Arl4d A G 11: 101,666,929 T94A possibly damaging Het
Cd22 A G 7: 30,876,134 I161T probably damaging Het
Clcn7 C T 17: 25,146,847 L166F probably benign Het
Cnbd1 G T 4: 19,055,095 N110K possibly damaging Het
Col14a1 A T 15: 55,463,769 probably benign Het
Col6a6 C T 9: 105,784,101 V270M probably damaging Het
Cox8b C A 7: 140,899,077 G42W probably damaging Het
Csn1s1 A T 5: 87,680,845 D275V probably benign Het
Cubn T A 2: 13,427,834 probably null Het
Dctn2 T C 10: 127,275,821 probably benign Het
Dnm1l A G 16: 16,342,740 probably benign Het
Dpp4 T C 2: 62,334,644 E687G probably benign Het
Fbxw20 T C 9: 109,223,309 K249E possibly damaging Het
Fhl2 C T 1: 43,128,390 W181* probably null Het
G2e3 T A 12: 51,369,158 M559K probably benign Het
Gdap1l1 A T 2: 163,447,595 Y160F possibly damaging Het
Gm1110 T C 9: 26,881,763 I572M probably benign Het
Gm5538 G A 3: 59,743,605 M49I probably benign Het
Gpatch2l T A 12: 86,256,937 probably benign Het
Kcnq4 A G 4: 120,715,854 L250P probably damaging Het
Lamc2 A T 1: 153,166,216 N57K probably benign Het
Lingo1 A G 9: 56,620,081 L408P probably damaging Het
Mmrn1 A T 6: 60,977,147 N804I possibly damaging Het
Mroh7 A G 4: 106,707,782 L545S probably damaging Het
Nup188 T A 2: 30,323,636 probably null Het
Olfr1442 T C 19: 12,674,238 I11T probably damaging Het
Olfr1494 A G 19: 13,749,934 D276G probably benign Het
Olfr96 A G 17: 37,225,326 N67S probably damaging Het
Pls1 A T 9: 95,784,183 N138K probably benign Het
Prkch C A 12: 73,702,512 N345K probably benign Het
Reps1 T C 10: 18,056,117 probably null Het
Scn1a T A 2: 66,277,661 T1557S possibly damaging Het
Smtn T C 11: 3,526,215 E602G probably damaging Het
Syvn1 T C 19: 6,050,093 probably null Het
Tbxas1 A G 6: 39,023,080 D267G probably damaging Het
Topbp1 A G 9: 103,328,523 N787D probably damaging Het
Vmn2r22 T G 6: 123,638,092 S180R probably damaging Het
Zfp345 T A 2: 150,474,543 E48D possibly damaging Het
Zfp608 G A 18: 54,897,437 Q1144* probably null Het
Zfp936 T A 7: 43,187,267 L34Q probably damaging Het
Other mutations in Rrp7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Rrp7a APN 15 83118081 missense probably benign 0.34
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
Z1177:Rrp7a UTSW 15 83122138 intron probably benign
Posted On2015-04-16