Incidental Mutation 'IGL01818:Mrps31'
ID 154432
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps31
Ensembl Gene ENSMUSG00000031533
Gene Name mitochondrial ribosomal protein S31
Synonyms Imogen44, 1500002D03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # IGL01818
Quality Score
Status
Chromosome 8
Chromosomal Location 22901377-22919681 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 22901483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000033934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033934]
AlphaFold Q61733
Predicted Effect probably null
Transcript: ENSMUST00000033934
AA Change: M1T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033934
Gene: ENSMUSG00000031533
AA Change: M1T

DomainStartEndE-ValueType
Pfam:MRP-S31 85 378 3.8e-118 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211758
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. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that has also been associated with type 1 diabetes; however, its relationship to the etiology of this disease remains to be clarified. Pseudogenes corresponding to this gene have been found on chromosomes 3 and 13. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp T C 8: 106,294,018 (GRCm39) D35G probably benign Het
C3ar1 T C 6: 122,827,378 (GRCm39) N280D probably benign Het
Ccpg1 A G 9: 72,904,735 (GRCm39) T15A probably damaging Het
Chmp7 A G 14: 69,956,616 (GRCm39) V361A probably damaging Het
Dnmbp T A 19: 43,889,604 (GRCm39) K721M probably damaging Het
Elmod3 T C 6: 72,563,490 (GRCm39) E46G possibly damaging Het
Gm4922 T C 10: 18,660,701 (GRCm39) D7G unknown Het
H2-T24 C A 17: 36,328,128 (GRCm39) probably benign Het
Hal A T 10: 93,326,846 (GRCm39) T161S probably damaging Het
Htr1d A G 4: 136,170,197 (GRCm39) E142G probably benign Het
Minar1 T C 9: 89,483,366 (GRCm39) E677G probably damaging Het
Nckap1l T C 15: 103,386,709 (GRCm39) L628P probably damaging Het
Oosp2 T C 19: 11,627,053 (GRCm39) N90S probably benign Het
Pitpnm3 A G 11: 72,003,077 (GRCm39) probably benign Het
Ppox A T 1: 171,108,318 (GRCm39) I6K probably benign Het
Skint6 G T 4: 112,805,766 (GRCm39) Q690K probably benign Het
Stat1 T C 1: 52,190,437 (GRCm39) I564T probably damaging Het
Tiam1 T A 16: 89,664,592 (GRCm39) I539F probably damaging Het
Tmem191 A G 16: 17,095,594 (GRCm39) R35G possibly damaging Het
Trim30d A T 7: 104,121,267 (GRCm39) C343S probably damaging Het
Trpm3 T C 19: 22,891,838 (GRCm39) L736S probably damaging Het
Vmn2r73 T A 7: 85,519,109 (GRCm39) probably benign Het
Other mutations in Mrps31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00670:Mrps31 APN 8 22,919,206 (GRCm39) missense probably damaging 1.00
IGL00909:Mrps31 APN 8 22,917,841 (GRCm39) missense probably damaging 1.00
R0304:Mrps31 UTSW 8 22,911,354 (GRCm39) missense probably benign 0.06
R1230:Mrps31 UTSW 8 22,909,759 (GRCm39) missense possibly damaging 0.60
R4702:Mrps31 UTSW 8 22,909,754 (GRCm39) missense probably damaging 1.00
R5947:Mrps31 UTSW 8 22,904,991 (GRCm39) missense possibly damaging 0.95
R6143:Mrps31 UTSW 8 22,901,539 (GRCm39) missense probably benign 0.22
R6473:Mrps31 UTSW 8 22,904,881 (GRCm39) missense probably benign 0.01
R7404:Mrps31 UTSW 8 22,911,429 (GRCm39) missense probably benign 0.28
R7554:Mrps31 UTSW 8 22,911,445 (GRCm39) missense possibly damaging 0.79
R7877:Mrps31 UTSW 8 22,914,367 (GRCm39) missense probably benign
R9381:Mrps31 UTSW 8 22,904,752 (GRCm39) missense probably damaging 1.00
R9627:Mrps31 UTSW 8 22,901,558 (GRCm39) missense probably benign 0.00
RF007:Mrps31 UTSW 8 22,909,880 (GRCm39) missense possibly damaging 0.94
Posted On 2014-02-04