Incidental Mutation 'IGL02723:Rpl13a-ps1'
ID305061
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpl13a-ps1
Ensembl Gene ENSMUSG00000062083
Gene Nameribosomal protein 13A, pseudogene 1
SynonymsGm5520
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.877) question?
Stock #IGL02723
Quality Score
Status
Chromosome19
Chromosomal Location50030124-50030735 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 50030672 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 22 (I22F)
Ref Sequence ENSEMBL: ENSMUSP00000071763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071866]
Predicted Effect possibly damaging
Transcript: ENSMUST00000071866
AA Change: I22F

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000071763
Gene: ENSMUSG00000062083
AA Change: I22F

DomainStartEndE-ValueType
Pfam:Ribosomal_L13 5 118 1.9e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik T C 14: 8,516,507 N347S probably benign Het
Capn9 A T 8: 124,609,183 probably benign Het
Cchcr1 A C 17: 35,530,802 K761Q probably benign Het
Csk G T 9: 57,631,389 probably benign Het
Cyp2j7 T C 4: 96,230,129 K76E probably benign Het
Dpep1 G A 8: 123,194,149 A23T possibly damaging Het
Dpp8 T A 9: 65,042,267 M98K possibly damaging Het
Dspp C A 5: 104,175,175 N61K probably benign Het
Eno2 T C 6: 124,761,663 Y364C probably damaging Het
Gfra1 A G 19: 58,453,251 S83P probably benign Het
Gramd1b T C 9: 40,306,831 E563G probably damaging Het
Kcns2 G T 15: 34,838,815 W108L probably damaging Het
Mroh4 T C 15: 74,608,237 probably benign Het
Obscn A T 11: 59,124,620 S1009T probably benign Het
Olfr1381 A G 11: 49,552,679 R311G probably benign Het
Olfr1475 A G 19: 13,479,335 Y288H probably damaging Het
Olfr850 T C 9: 19,477,509 H244R probably damaging Het
Olfr890 A G 9: 38,143,411 K92R probably benign Het
Plcb2 G A 2: 118,717,019 probably benign Het
Skil A G 3: 31,117,524 E599G probably damaging Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Spata31 T C 13: 64,920,649 S204P probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tenm3 A T 8: 48,276,903 V1356E probably benign Het
Trpc3 T A 3: 36,650,228 I527F probably benign Het
Vmn2r69 A G 7: 85,410,208 W498R probably damaging Het
Vwde T A 6: 13,205,760 I263L probably damaging Het
Vwf G T 6: 125,642,930 V1524L possibly damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Other mutations in Rpl13a-ps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0453:Rpl13a-ps1 UTSW 19 50030206 nonsense probably null
R2351:Rpl13a-ps1 UTSW 19 50030429 missense probably benign
R5319:Rpl13a-ps1 UTSW 19 50030152 missense possibly damaging 0.69
Posted On2015-04-16