Incidental Mutation 'IGL00936:Mrps22'
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
Chromosomal Location98588730-98601660 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 98596981 bp
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

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