Incidental Mutation 'R6143:Mrps31'
ID 488677
Institutional Source Beutler Lab
Gene Symbol Mrps31
Ensembl Gene ENSMUSG00000031533
Gene Name mitochondrial ribosomal protein S31
Synonyms Imogen44, 1500002D03Rik
MMRRC Submission 044290-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R6143 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 22901377-22919681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 22901539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 20 (S20A)
Ref Sequence ENSEMBL: ENSMUSP00000033934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033934]
AlphaFold Q61733
Predicted Effect probably benign
Transcript: ENSMUST00000033934
AA Change: S20A

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000033934
Gene: ENSMUSG00000031533
AA Change: S20A

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730061H03Rik A G 14: 55,797,736 (GRCm39) probably benign Het
Abcd2 A T 15: 91,075,150 (GRCm39) V221E possibly damaging Het
Arhgap39 T A 15: 76,614,606 (GRCm39) K853* probably null Het
Art2a T C 7: 101,204,430 (GRCm39) D36G possibly damaging Het
Atp13a1 C T 8: 70,258,010 (GRCm39) P922S probably benign Het
Brwd1 C T 16: 95,804,156 (GRCm39) G2005R probably benign Het
Bzw2 A T 12: 36,170,725 (GRCm39) M133K probably benign Het
Cacna1s T G 1: 136,004,496 (GRCm39) S346A probably damaging Het
Cebpb C A 2: 167,531,220 (GRCm39) D93E probably benign Het
Cep162 C A 9: 87,094,904 (GRCm39) probably null Het
Col9a2 A T 4: 120,911,060 (GRCm39) Y565F probably damaging Het
Csgalnact1 T A 8: 68,826,202 (GRCm39) N372I probably damaging Het
Csmd1 T C 8: 16,138,315 (GRCm39) D1579G probably damaging Het
Cyfip2 A C 11: 46,144,792 (GRCm39) Y687* probably null Het
Cyp2d34 G A 15: 82,504,977 (GRCm39) R28W probably benign Het
Dbndd2 C A 2: 164,330,206 (GRCm39) Q13K probably damaging Het
Dnah5 T A 15: 28,233,377 (GRCm39) S245R probably benign Het
Dnajb5 A T 4: 42,956,990 (GRCm39) T226S probably damaging Het
Dnmt1 T C 9: 20,838,430 (GRCm39) E211G probably benign Het
Dnpep G A 1: 75,291,872 (GRCm39) H214Y probably damaging Het
Drc3 G A 11: 60,261,406 (GRCm39) V186M possibly damaging Het
Dvl3 A G 16: 20,345,789 (GRCm39) D413G possibly damaging Het
Dyrk4 C T 6: 126,863,614 (GRCm39) probably null Het
Edc4 T A 8: 106,612,506 (GRCm39) D181E probably damaging Het
Enthd1 T C 15: 80,393,487 (GRCm39) Y247C possibly damaging Het
Gm5622 A T 14: 51,892,372 (GRCm39) R50S possibly damaging Het
Gpbp1 G A 13: 111,603,389 (GRCm39) T20I probably damaging Het
Hnrnpdl A T 5: 100,184,410 (GRCm39) Y276* probably null Het
Hsd3b7 A C 7: 127,400,404 (GRCm39) E51A probably damaging Het
Ighv5-16 G T 12: 113,802,238 (GRCm39) F87L probably damaging Het
Iqsec1 C T 6: 90,786,666 (GRCm39) probably null Het
Irgm2 A T 11: 58,111,435 (GRCm39) E387D possibly damaging Het
Klhl23 C A 2: 69,664,040 (GRCm39) P463Q possibly damaging Het
Mast4 A T 13: 102,990,391 (GRCm39) N43K probably damaging Het
Mme T G 3: 63,207,532 (GRCm39) probably null Het
Myo5c A G 9: 75,157,091 (GRCm39) R176G probably damaging Het
Naf1 T C 8: 67,330,347 (GRCm39) V291A possibly damaging Het
Nbeal1 A T 1: 60,290,466 (GRCm39) H1021L possibly damaging Het
Ncaph2 T C 15: 89,248,206 (GRCm39) probably null Het
Neurod4 T G 10: 130,106,869 (GRCm39) Y135S probably damaging Het
Nrp2 A T 1: 62,799,974 (GRCm39) N396I probably damaging Het
Nvl T G 1: 180,962,560 (GRCm39) T137P probably benign Het
Or5p59 A G 7: 107,703,335 (GRCm39) D273G probably damaging Het
Papola T C 12: 105,793,219 (GRCm39) V513A probably benign Het
Pcdhgc4 T A 18: 37,950,653 (GRCm39) S690T possibly damaging Het
Pck1 A T 2: 172,995,805 (GRCm39) D101V probably damaging Het
Pdilt T A 7: 119,094,265 (GRCm39) N329Y probably damaging Het
Pfkl T A 10: 77,825,447 (GRCm39) R648W probably damaging Het
Prtn3 T A 10: 79,716,382 (GRCm39) I63N probably damaging Het
Psg22 C T 7: 18,456,723 (GRCm39) A163V probably benign Het
Pten A G 19: 32,777,485 (GRCm39) T160A possibly damaging Het
Retreg2 A G 1: 75,123,530 (GRCm39) D449G probably damaging Het
Scn9a T C 2: 66,317,868 (GRCm39) Y1531C probably benign Het
Sgk2 T A 2: 162,841,174 (GRCm39) C195S probably damaging Het
Slc19a3 C T 1: 83,004,060 (GRCm39) V14I probably benign Het
Snai2 A T 16: 14,526,107 (GRCm39) R253* probably null Het
Speg G A 1: 75,391,031 (GRCm39) V1512I probably damaging Het
Srsf1 G A 11: 87,940,425 (GRCm39) probably benign Het
Tctn3 G T 19: 40,597,671 (GRCm39) T190N probably benign Het
Tmprss11f T A 5: 86,687,558 (GRCm39) I117L probably benign Het
Ttn G A 2: 76,682,413 (GRCm39) R959* probably null Het
Vmn2r118 G T 17: 55,899,871 (GRCm39) L678I possibly damaging Het
Vps13b T C 15: 35,668,884 (GRCm39) S1594P probably damaging Het
Vps13d G T 4: 144,875,135 (GRCm39) H1791N possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CTACCGGAATCCAAAAGGAGCG -3'
(R):5'- TTCGAACAACCGCTTCCAAG -3'

Sequencing Primer
(F):5'- CGGAACAGTGCAGGCTG -3'
(R):5'- GCTTCCAAGAGCCTACGC -3'
Posted On 2017-10-10