Incidental Mutation 'IGL03382:Mrps35'
ID 420714
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps35
Ensembl Gene ENSMUSG00000040112
Gene Name mitochondrial ribosomal protein S35
Synonyms MDSO23, MRPS28, MRP-S28
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # IGL03382
Quality Score
Status
Chromosome 6
Chromosomal Location 146944270-146972399 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 146951373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 76 (C76*)
Ref Sequence ENSEMBL: ENSMUSP00000144920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036111] [ENSMUST00000137556]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000036111
AA Change: C120*
SMART Domains Protein: ENSMUSP00000048348
Gene: ENSMUSG00000040112
AA Change: C120*

DomainStartEndE-ValueType
Pfam:MRP-S28 138 262 2.5e-23 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000137556
AA Change: C76*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149660
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has had confusing nomenclature in the literature. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 3p, 5q, and 10q. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff1 A G 5: 103,988,926 (GRCm39) D831G possibly damaging Het
Amer2 A G 14: 60,617,331 (GRCm39) K509E possibly damaging Het
Ankrd6 T C 4: 32,808,771 (GRCm39) K449E probably damaging Het
Atp8b2 G A 3: 89,855,828 (GRCm39) P459L probably benign Het
Atr C T 9: 95,802,875 (GRCm39) R1846* probably null Het
Brd10 C T 19: 29,694,676 (GRCm39) G1606R probably damaging Het
Ccdc159 C A 9: 21,842,992 (GRCm39) probably null Het
Ccna1 A C 3: 54,954,698 (GRCm39) Y338D probably damaging Het
Cpq A T 15: 33,213,089 (GRCm39) E36V probably damaging Het
Cyp2c23 A G 19: 44,003,371 (GRCm39) I268T probably damaging Het
Dctn2 G T 10: 127,114,057 (GRCm39) Q332H probably damaging Het
Dnah17 T A 11: 117,972,769 (GRCm39) I2055F probably damaging Het
Dnmt3b A G 2: 153,528,279 (GRCm39) H764R probably damaging Het
Gphn T A 12: 78,528,087 (GRCm39) I135K probably damaging Het
Hnrnpul1 A G 7: 25,450,409 (GRCm39) M1T probably null Het
Htra4 T C 8: 25,519,714 (GRCm39) D406G probably benign Het
Klk10 G T 7: 43,433,883 (GRCm39) probably benign Het
Lilrb4a T A 10: 51,367,616 (GRCm39) W53R probably benign Het
Magel2 T C 7: 62,028,461 (GRCm39) V455A probably benign Het
Mrgprb5 T C 7: 47,818,442 (GRCm39) T98A probably benign Het
Myh7b C T 2: 155,465,399 (GRCm39) R701C probably damaging Het
Nbeal1 G A 1: 60,300,745 (GRCm39) probably null Het
Neb T A 2: 52,215,720 (GRCm39) M196L probably benign Het
Nmd3 A G 3: 69,642,421 (GRCm39) K207R probably damaging Het
Plxna4 C T 6: 32,179,129 (GRCm39) R962Q probably benign Het
Pom121 T C 5: 135,421,261 (GRCm39) K230E unknown Het
Psme4 A G 11: 30,757,788 (GRCm39) D307G possibly damaging Het
Rnf41 T G 10: 128,274,149 (GRCm39) M267R possibly damaging Het
Sis T C 3: 72,836,052 (GRCm39) N846D probably benign Het
Slc22a19 T A 19: 7,659,227 (GRCm39) I463L probably benign Het
Slc25a39 A T 11: 102,297,030 (GRCm39) probably null Het
Slc35b2 C T 17: 45,877,571 (GRCm39) R233C probably damaging Het
Slc4a4 T C 5: 89,376,695 (GRCm39) L983P probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Tbc1d10a A G 11: 4,159,984 (GRCm39) Y123C probably damaging Het
Thbs4 A C 13: 92,906,056 (GRCm39) I395S probably benign Het
Triml2 A G 8: 43,646,776 (GRCm39) T422A probably benign Het
Ubn2 T C 6: 38,417,382 (GRCm39) probably benign Het
Vmn1r15 T A 6: 57,235,555 (GRCm39) M141K probably benign Het
Vmn2r80 A G 10: 79,005,362 (GRCm39) E333G probably damaging Het
Zfp169 T C 13: 48,644,639 (GRCm39) probably benign Het
Zfp942 G A 17: 22,148,083 (GRCm39) P182L probably benign Het
Other mutations in Mrps35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00912:Mrps35 APN 6 146,957,419 (GRCm39) missense possibly damaging 0.86
IGL01776:Mrps35 APN 6 146,972,214 (GRCm39) missense probably benign 0.33
IGL02134:Mrps35 APN 6 146,949,808 (GRCm39) splice site probably benign
R0600:Mrps35 UTSW 6 146,972,232 (GRCm39) missense possibly damaging 0.53
R0648:Mrps35 UTSW 6 146,957,443 (GRCm39) nonsense probably null
R1466:Mrps35 UTSW 6 146,957,482 (GRCm39) missense probably damaging 0.98
R1466:Mrps35 UTSW 6 146,957,482 (GRCm39) missense probably damaging 0.98
R1584:Mrps35 UTSW 6 146,957,482 (GRCm39) missense probably damaging 0.98
R1655:Mrps35 UTSW 6 146,961,726 (GRCm39) missense possibly damaging 0.84
R2018:Mrps35 UTSW 6 146,962,982 (GRCm39) nonsense probably null
R2257:Mrps35 UTSW 6 146,972,125 (GRCm39) missense possibly damaging 0.85
R4989:Mrps35 UTSW 6 146,961,645 (GRCm39) missense possibly damaging 0.85
R5174:Mrps35 UTSW 6 146,961,709 (GRCm39) missense possibly damaging 0.93
R5453:Mrps35 UTSW 6 146,972,115 (GRCm39) missense probably benign 0.32
R6682:Mrps35 UTSW 6 146,949,777 (GRCm39) missense possibly damaging 0.86
R7181:Mrps35 UTSW 6 146,957,491 (GRCm39) critical splice donor site probably null
R7409:Mrps35 UTSW 6 146,957,481 (GRCm39) missense possibly damaging 0.71
R8132:Mrps35 UTSW 6 146,949,661 (GRCm39) missense probably benign
X0066:Mrps35 UTSW 6 146,972,218 (GRCm39) missense possibly damaging 0.72
Posted On 2016-08-02