Incidental Mutation 'IGL02807:Mrps36'
ID 360468
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps36
Ensembl Gene ENSMUSG00000061474
Gene Name mitochondrial ribosomal protein S36
Synonyms 1110018B13Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02807
Quality Score
Status
Chromosome 13
Chromosomal Location 100872463-100881167 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 100877674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078573] [ENSMUST00000109333]
AlphaFold Q9CQX8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000076037
Predicted Effect probably null
Transcript: ENSMUST00000078573
SMART Domains Protein: ENSMUSP00000104954
Gene: ENSMUSG00000061474

DomainStartEndE-ValueType
Pfam:DUF2638 2 99 1.2e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109333
SMART Domains Protein: ENSMUSP00000104957
Gene: ENSMUSG00000061474

DomainStartEndE-ValueType
Pfam:DUF2638 2 101 1.9e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150113
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. The mitochondrial ribosome (mitoribosome) consists 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. Pseudogenes corresponding to this gene are found on chromosomes 3p, 4q, 8p, 11q, 12q, and 20p. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 C A 13: 70,886,897 (GRCm39) probably null Het
Ankra2 T C 13: 98,408,250 (GRCm39) L73P probably damaging Het
Ankrd63 G T 2: 118,533,789 (GRCm39) probably benign Het
Cars1 A T 7: 143,123,209 (GRCm39) I469N possibly damaging Het
Chn2 A G 6: 54,272,898 (GRCm39) E183G possibly damaging Het
Fstl4 A T 11: 53,077,501 (GRCm39) T753S probably benign Het
Igf2r G T 17: 12,938,770 (GRCm39) N511K probably damaging Het
Il12rb2 A T 6: 67,328,300 (GRCm39) I310N probably damaging Het
Kcnc3 C A 7: 44,245,381 (GRCm39) P557Q probably damaging Het
Mug1 A G 6: 121,863,531 (GRCm39) T1410A probably damaging Het
Nme8 C A 13: 19,860,001 (GRCm39) probably benign Het
Or1l4 A C 2: 37,091,586 (GRCm39) N111T probably damaging Het
Or4d11 A G 19: 12,013,648 (GRCm39) F153L probably benign Het
Or51v14 A T 7: 103,261,198 (GRCm39) S121T probably benign Het
Or8b36 C T 9: 37,937,485 (GRCm39) P128S probably damaging Het
Pcm1 A G 8: 41,783,919 (GRCm39) E2005G probably damaging Het
Phtf1 T G 3: 103,904,869 (GRCm39) S506A probably benign Het
Plpp5 G T 8: 26,211,192 (GRCm39) probably benign Het
Rapgef4 G T 2: 72,035,993 (GRCm39) probably benign Het
Syt15 G A 14: 33,944,870 (GRCm39) G139D probably benign Het
Trpm8 T C 1: 88,275,830 (GRCm39) L476P probably damaging Het
Virma G A 4: 11,507,079 (GRCm39) probably benign Het
Vmn1r170 T A 7: 23,305,760 (GRCm39) I54N probably damaging Het
Vmn2r98 G A 17: 19,301,283 (GRCm39) A762T probably damaging Het
Other mutations in Mrps36
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7264:Mrps36 UTSW 13 100,875,707 (GRCm39) missense probably benign 0.01
R9051:Mrps36 UTSW 13 100,877,715 (GRCm39) missense probably damaging 1.00
Z1088:Mrps36 UTSW 13 100,875,641 (GRCm39) missense possibly damaging 0.56
Z1177:Mrps36 UTSW 13 100,872,778 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18