Incidental Mutation 'IGL00909:Mrps31'
ID 28000
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 # IGL00909
Quality Score
Status
Chromosome 8
Chromosomal Location 22901377-22919681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 22917841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 287 (F287V)
Ref Sequence ENSEMBL: ENSMUSP00000033934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033934]
AlphaFold Q61733
Predicted Effect probably damaging
Transcript: ENSMUST00000033934
AA Change: F287V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033934
Gene: ENSMUSG00000031533
AA Change: F287V

DomainStartEndE-ValueType
Pfam:MRP-S31 85 378 3.8e-118 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211083
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik T A 9: 46,220,250 (GRCm39) D94V possibly damaging Het
Adamts20 T C 15: 94,277,694 (GRCm39) Y256C probably damaging Het
Ajm1 A G 2: 25,469,419 (GRCm39) L164P probably damaging Het
Ampd1 A C 3: 102,995,744 (GRCm39) D218A probably benign Het
Arcn1 T C 9: 44,662,651 (GRCm39) N332D probably damaging Het
Arpp21 T A 9: 112,005,191 (GRCm39) I219F probably damaging Het
Bicra A T 7: 15,730,502 (GRCm39) D5E possibly damaging Het
Birc2 A C 9: 7,833,666 (GRCm39) W272G probably damaging Het
Cd2ap A T 17: 43,141,005 (GRCm39) probably benign Het
Celsr1 G A 15: 85,806,436 (GRCm39) R974W probably damaging Het
Col4a2 A C 8: 11,498,167 (GRCm39) T1659P possibly damaging Het
Coq9 C T 8: 95,578,530 (GRCm39) L215F possibly damaging Het
Cped1 A G 6: 22,122,426 (GRCm39) probably benign Het
Elapor2 A T 5: 9,430,282 (GRCm39) D64V probably damaging Het
Gga3 T A 11: 115,482,567 (GRCm39) R105W probably damaging Het
Hmcn1 C T 1: 150,514,620 (GRCm39) R3584Q probably benign Het
Hs6st3 T A 14: 119,376,446 (GRCm39) L207Q probably damaging Het
Ift43 A G 12: 86,208,807 (GRCm39) E141G probably damaging Het
Naca A G 10: 127,877,551 (GRCm39) probably benign Het
Nrf1 C T 6: 30,098,477 (GRCm39) T135M probably damaging Het
Or5p81 A G 7: 108,266,907 (GRCm39) I95V possibly damaging Het
Pfas A T 11: 68,894,640 (GRCm39) Y8* probably null Het
Ppip5k1 G A 2: 121,177,839 (GRCm39) R323W probably damaging Het
Rasal1 A G 5: 120,802,872 (GRCm39) E376G probably damaging Het
Rfc1 A G 5: 65,437,042 (GRCm39) L546P probably benign Het
Rheb A T 5: 25,012,073 (GRCm39) I129N probably damaging Het
Scpep1 A T 11: 88,843,303 (GRCm39) F52I probably damaging Het
Six2 A T 17: 85,995,319 (GRCm39) L21Q probably damaging Het
Slit1 G T 19: 41,590,694 (GRCm39) T1326K possibly damaging Het
Spata2l T C 8: 123,960,716 (GRCm39) D191G possibly damaging Het
Susd4 C A 1: 182,719,552 (GRCm39) A389D probably damaging Het
Tcaf2 A T 6: 42,601,510 (GRCm39) F850I probably damaging Het
Teddm1b T C 1: 153,750,391 (GRCm39) S67P probably damaging Het
Tiparp T A 3: 65,439,530 (GRCm39) V100D probably damaging Het
Zdhhc14 A G 17: 5,803,067 (GRCm39) H390R probably benign Het
Other mutations in Mrps31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00670:Mrps31 APN 8 22,919,206 (GRCm39) missense probably damaging 1.00
IGL01818:Mrps31 APN 8 22,901,483 (GRCm39) start codon destroyed probably null 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 2013-04-17