Incidental Mutation 'IGL00472:Rpl39l'
ID 5800
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpl39l
Ensembl Gene ENSMUSG00000039209
Gene Name ribosomal protein L39-like
Synonyms 4930517K11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # IGL00472
Quality Score
Status
Chromosome 16
Chromosomal Location 9988090-9992775 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9992258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 29 (M29V)
Ref Sequence ENSEMBL: ENSMUSP00000112791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044103] [ENSMUST00000121292]
AlphaFold Q9CQD0
Predicted Effect probably benign
Transcript: ENSMUST00000044103
AA Change: M29V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000041794
Gene: ENSMUSG00000039209
AA Change: M29V

DomainStartEndE-ValueType
Pfam:Ribosomal_L39 9 51 3.5e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121292
AA Change: M29V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112791
Gene: ENSMUSG00000039209
AA Change: M29V

DomainStartEndE-ValueType
Pfam:Ribosomal_L39 9 50 1.5e-27 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg2a A G 3: 37,490,793 (GRCm39) H446R probably benign Het
Alpk3 C T 7: 80,745,401 (GRCm39) probably benign Het
Atp8b1 T A 18: 64,697,501 (GRCm39) I448F probably benign Het
C2cd2l A G 9: 44,228,400 (GRCm39) L156P probably damaging Het
Cbll1 G A 12: 31,537,832 (GRCm39) P308S probably damaging Het
Ccl3 C T 11: 83,539,467 (GRCm39) S39N possibly damaging Het
Cnih4 G T 1: 180,989,659 (GRCm39) G30C probably damaging Het
Endod1 A T 9: 14,268,049 (GRCm39) F479I possibly damaging Het
Gm572 T G 4: 148,751,849 (GRCm39) V238G possibly damaging Het
Grhl1 G T 12: 24,662,169 (GRCm39) R536L probably damaging Het
Itgae A G 11: 73,004,520 (GRCm39) K269R probably benign Het
Nin C A 12: 70,076,862 (GRCm39) M1064I probably damaging Het
Pnkd A G 1: 74,325,081 (GRCm39) K50E probably damaging Het
Strip2 C T 6: 29,931,213 (GRCm39) A388V probably benign Het
Tex21 A T 12: 76,253,571 (GRCm39) N447K probably damaging Het
Zfp760 A G 17: 21,942,457 (GRCm39) Y544C possibly damaging Het
Other mutations in Rpl39l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0963:Rpl39l UTSW 16 9,992,162 (GRCm39) splice site probably null
R2393:Rpl39l UTSW 16 9,992,328 (GRCm39) makesense probably null
Posted On 2012-04-20