Incidental Mutation 'IGL00936:Mrps22'
ID28184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps22
Ensembl Gene ENSMUSG00000032459
Gene Namemitochondrial ribosomal protein S22
Synonyms3100002P07Rik, Rpms22
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00936
Quality Score
Status
Chromosome9
Chromosomal Location98588730-98601660 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 98596981 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 114 (T114A)
Ref Sequence ENSEMBL: ENSMUSP00000035034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035034]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035034
AA Change: T114A

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035034
Gene: ENSMUSG00000032459
AA Change: T114A

DomainStartEndE-ValueType
low complexity region 18 31 N/A INTRINSIC
low complexity region 54 63 N/A INTRINSIC
Pfam:MRP-S22 67 308 7.5e-111 PFAM
low complexity region 311 322 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190150
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 does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,864,646 T1053A probably benign Het
8030411F24Rik A C 2: 148,785,804 T124P probably benign Het
Col13a1 A G 10: 61,876,290 M332T probably damaging Het
Cyth4 A G 15: 78,619,913 E361G probably benign Het
Nup155 T C 15: 8,128,405 probably benign Het
Olfr1467 T A 19: 13,364,624 probably benign Het
Slc35g3 T C 11: 69,760,491 probably null Het
Taar7f T C 10: 24,050,168 V220A probably benign Het
Other mutations in Mrps22
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0562:Mrps22 UTSW 9 98592693 missense probably benign 0.04
R1241:Mrps22 UTSW 9 98594695 missense probably benign 0.01
R1672:Mrps22 UTSW 9 98596816 splice site probably null
R4683:Mrps22 UTSW 9 98598306 splice site probably null
R6332:Mrps22 UTSW 9 98601471 critical splice donor site probably null
R7144:Mrps22 UTSW 9 98601471 critical splice donor site probably null
Posted On2013-04-17