Incidental Mutation 'IGL00930:Rpl10a'
ID 29280
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpl10a
Ensembl Gene ENSMUSG00000037805
Gene Name ribosomal protein L10A
Synonyms Nedd6, CsA-19
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # IGL00930
Quality Score
Status
Chromosome 17
Chromosomal Location 28547557-28550007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28547981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 41 (Y41H)
Ref Sequence ENSEMBL: ENSMUSP00000114141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042334] [ENSMUST00000088007] [ENSMUST00000114799] [ENSMUST00000114801] [ENSMUST00000114803] [ENSMUST00000114804] [ENSMUST00000129935] [ENSMUST00000146104] [ENSMUST00000123248] [ENSMUST00000219703] [ENSMUST00000154873] [ENSMUST00000156505] [ENSMUST00000156862]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000042334
AA Change: Y41H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048469
Gene: ENSMUSG00000037805
AA Change: Y41H

DomainStartEndE-ValueType
Pfam:Ribosomal_L1 12 213 3.5e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088007
SMART Domains Protein: ENSMUSP00000085322
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 212 5.9e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114799
SMART Domains Protein: ENSMUSP00000110447
Gene: ENSMUSG00000002249

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
TEA 52 123 9.04e-52 SMART
low complexity region 150 165 N/A INTRINSIC
low complexity region 181 202 N/A INTRINSIC
low complexity region 208 222 N/A INTRINSIC
low complexity region 227 244 N/A INTRINSIC
PDB:3KYS|C 248 465 1e-120 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000114801
SMART Domains Protein: ENSMUSP00000110449
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 7 98 1.8e-32 PFAM
Pfam:FA_FANCE 93 125 7.6e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114803
SMART Domains Protein: ENSMUSP00000110451
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 7 167 1.5e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114804
SMART Domains Protein: ENSMUSP00000110452
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 140 3.7e-56 PFAM
Pfam:FA_FANCE 137 170 6e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129935
AA Change: Y41H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114141
Gene: ENSMUSG00000037805
AA Change: Y41H

DomainStartEndE-ValueType
Pfam:Ribosomal_L1 3 57 1.3e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128758
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127212
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146668
Predicted Effect probably benign
Transcript: ENSMUST00000146104
SMART Domains Protein: ENSMUSP00000114386
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 96 7.2e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123248
SMART Domains Protein: ENSMUSP00000119663
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 154 3.1e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156569
Predicted Effect probably benign
Transcript: ENSMUST00000219703
Predicted Effect probably benign
Transcript: ENSMUST00000154873
SMART Domains Protein: ENSMUSP00000118582
Gene: ENSMUSG00000002249

DomainStartEndE-ValueType
Pfam:TEA 1 366 3.8e-149 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156505
SMART Domains Protein: ENSMUSP00000118622
Gene: ENSMUSG00000007570

DomainStartEndE-ValueType
Pfam:FA_FANCE 1 67 4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156862
SMART Domains Protein: ENSMUSP00000115443
Gene: ENSMUSG00000002249

DomainStartEndE-ValueType
Pfam:TEA 1 366 3.8e-149 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L1P family of ribosomal proteins. It is located in the cytoplasm. The expression of this gene is downregulated in the thymus by cyclosporin-A (CsA), an immunosuppressive drug. Studies in mice have shown that the expression of the ribosomal protein L10a gene is downregulated in neural precursor cells during development. This gene previously was referred to as NEDD6 (neural precursor cell expressed, developmentally downregulated 6), but it has been renamed RPL10A (ribosomal protein 10a). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T C 7: 119,191,533 (GRCm39) S534P possibly damaging Het
Adamts15 G A 9: 30,813,349 (GRCm39) P939S probably damaging Het
Alms1 T C 6: 85,578,292 (GRCm39) S207P probably damaging Het
Chd7 A G 4: 8,805,181 (GRCm39) K747E probably damaging Het
Dock5 G T 14: 68,008,526 (GRCm39) N1457K probably damaging Het
Donson T C 16: 91,479,479 (GRCm39) E323G possibly damaging Het
Epc1 T A 18: 6,449,196 (GRCm39) M434L probably benign Het
Fcer1a A G 1: 173,050,100 (GRCm39) probably benign Het
Hemgn A T 4: 46,396,383 (GRCm39) C284* probably null Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Or7g34 A G 9: 19,478,471 (GRCm39) S67P probably damaging Het
Pcdh15 G A 10: 74,466,530 (GRCm39) E1450K probably benign Het
Pfpl A T 19: 12,407,009 (GRCm39) H420L probably benign Het
Pitpnm2 A G 5: 124,259,726 (GRCm39) probably benign Het
Pole2 A G 12: 69,273,219 (GRCm39) probably benign Het
Prmt3 T A 7: 49,441,757 (GRCm39) Y245N probably damaging Het
Tpst1 A T 5: 130,130,975 (GRCm39) K148N probably benign Het
Vmn1r199 A G 13: 22,567,029 (GRCm39) T108A possibly damaging Het
Wdr7 T A 18: 63,873,315 (GRCm39) C525* probably null Het
Zfp646 A G 7: 127,478,302 (GRCm39) T160A possibly damaging Het
Other mutations in Rpl10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02955:Rpl10a APN 17 28,547,967 (GRCm39) missense probably damaging 0.99
R4106:Rpl10a UTSW 17 28,549,933 (GRCm39) missense probably benign 0.01
R4921:Rpl10a UTSW 17 28,549,826 (GRCm39) missense probably benign 0.15
R5057:Rpl10a UTSW 17 28,549,607 (GRCm39) missense probably benign 0.00
R6352:Rpl10a UTSW 17 28,549,820 (GRCm39) missense possibly damaging 0.56
R6932:Rpl10a UTSW 17 28,548,424 (GRCm39) missense probably benign
R9374:Rpl10a UTSW 17 28,548,006 (GRCm39) missense possibly damaging 0.50
R9731:Rpl10a UTSW 17 28,547,594 (GRCm39) unclassified probably benign
Posted On 2013-04-17