Incidental Mutation 'IGL02134:Mrps35'
ID 281254
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 # IGL02134
Quality Score
Status
Chromosome 6
Chromosomal Location 146944270-146972399 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 146949808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036111] [ENSMUST00000137556]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000036111
SMART Domains Protein: ENSMUSP00000048348
Gene: ENSMUSG00000040112

DomainStartEndE-ValueType
Pfam:MRP-S28 138 262 2.5e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137556
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 T C 17: 42,980,581 (GRCm39) N168S probably damaging Het
Angptl3 A T 4: 98,919,349 (GRCm39) R36S probably damaging Het
Ap5z1 T C 5: 142,460,214 (GRCm39) F514L probably benign Het
Arhgef39 C A 4: 43,497,578 (GRCm39) probably null Het
Aste1 A G 9: 105,275,043 (GRCm39) S11G probably damaging Het
Cadm4 T C 7: 24,198,986 (GRCm39) V87A probably benign Het
Cd177 A G 7: 24,451,777 (GRCm39) I413T probably benign Het
Col5a2 A G 1: 45,430,230 (GRCm39) probably null Het
Dera C T 6: 137,807,269 (GRCm39) A239V probably damaging Het
Ecm1 T C 3: 95,643,499 (GRCm39) E283G probably damaging Het
Eml6 G T 11: 29,709,066 (GRCm39) H24N probably benign Het
Etl4 A G 2: 20,811,240 (GRCm39) K1425E possibly damaging Het
Fgd3 G A 13: 49,450,225 (GRCm39) S8L possibly damaging Het
Gli1 T C 10: 127,172,369 (GRCm39) E228G probably benign Het
Hivep3 A G 4: 119,990,771 (GRCm39) probably benign Het
Iqcc A G 4: 129,512,818 (GRCm39) S11P probably damaging Het
Itpkc G A 7: 26,927,300 (GRCm39) Q205* probably null Het
Jmjd1c T A 10: 67,056,171 (GRCm39) S530R possibly damaging Het
Kcnq1 A G 7: 142,737,453 (GRCm39) H257R possibly damaging Het
Kcnt2 G A 1: 140,304,121 (GRCm39) V164I probably benign Het
Lgr5 T C 10: 115,288,763 (GRCm39) H603R possibly damaging Het
Lrp2 T C 2: 69,343,723 (GRCm39) probably null Het
Lrrn2 A G 1: 132,865,555 (GRCm39) M207V possibly damaging Het
Miip A G 4: 147,949,735 (GRCm39) probably benign Het
Nuf2 A T 1: 169,341,069 (GRCm39) M184K probably benign Het
Or10q1 C A 19: 13,727,165 (GRCm39) R232S probably benign Het
Or14j2 C T 17: 37,886,249 (GRCm39) E22K probably benign Het
Or2f2 A G 6: 42,767,398 (GRCm39) T142A probably benign Het
Or4a15 A T 2: 89,193,172 (GRCm39) N200K probably damaging Het
Or8g32 A T 9: 39,305,830 (GRCm39) I248F probably damaging Het
Os9 T C 10: 126,956,861 (GRCm39) I42V possibly damaging Het
Rapgef4 A C 2: 72,010,405 (GRCm39) Q177P probably damaging Het
Rhpn2 T C 7: 35,070,536 (GRCm39) probably benign Het
Scn5a T C 9: 119,314,958 (GRCm39) R1916G probably damaging Het
Serpine1 T A 5: 137,095,889 (GRCm39) probably benign Het
Snd1 C T 6: 28,880,278 (GRCm39) P684L possibly damaging Het
Tgds T C 14: 118,350,534 (GRCm39) N340D probably benign Het
Trpc4 A T 3: 54,223,075 (GRCm39) Y706F possibly damaging Het
Ttn T A 2: 76,584,166 (GRCm39) D22314V probably damaging Het
Utrn G A 10: 12,519,163 (GRCm39) T2263I probably damaging Het
Vmn1r11 A T 6: 57,115,022 (GRCm39) T229S possibly damaging Het
Zfp142 T G 1: 74,609,022 (GRCm39) H1488P probably damaging Het
Zfp219 A G 14: 52,246,758 (GRCm39) L78P probably damaging Het
Zfp629 T A 7: 127,211,042 (GRCm39) T256S 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
IGL03382:Mrps35 APN 6 146,951,373 (GRCm39) nonsense probably null
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 2015-04-16