Incidental Mutation 'R7877:Mrps31'
ID 608508
Institutional Source Beutler Lab
Gene Symbol Mrps31
Ensembl Gene ENSMUSG00000031533
Gene Name mitochondrial ribosomal protein S31
Synonyms Imogen44, 1500002D03Rik
MMRRC Submission 045929-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R7877 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 22901377-22919681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22914367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 238 (Y238N)
Ref Sequence ENSEMBL: ENSMUSP00000033934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033934]
AlphaFold Q61733
Predicted Effect probably benign
Transcript: ENSMUST00000033934
AA Change: Y238N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033934
Gene: ENSMUSG00000031533
AA Change: Y238N

DomainStartEndE-ValueType
Pfam:MRP-S31 85 378 3.8e-118 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G A 17: 9,220,665 (GRCm39) C388Y probably damaging Het
4930522L14Rik G A 5: 109,884,230 (GRCm39) H543Y probably damaging Het
Abca1 A T 4: 53,046,135 (GRCm39) V1711E possibly damaging Het
Abca3 A T 17: 24,602,997 (GRCm39) K531* probably null Het
Adgrf5 A T 17: 43,752,729 (GRCm39) D557V possibly damaging Het
Adgrl3 A G 5: 81,842,467 (GRCm39) E865G probably benign Het
Adprhl1 T A 8: 13,275,316 (GRCm39) R481* probably null Het
Afap1l1 T A 18: 61,879,853 (GRCm39) D339V probably damaging Het
Atp9b T A 18: 80,890,412 (GRCm39) H309L Het
Baiap3 A G 17: 25,470,112 (GRCm39) V122A probably damaging Het
Btg4 T C 9: 51,029,240 (GRCm39) S142P probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cdca2 T A 14: 67,914,665 (GRCm39) T865S probably benign Het
Cdk12 A G 11: 98,131,661 (GRCm39) Y964C unknown Het
Cenpo A T 12: 4,264,573 (GRCm39) F273Y probably damaging Het
Cfap96 T A 8: 46,423,436 (GRCm39) K92M probably damaging Het
Chac1 T A 2: 119,183,987 (GRCm39) D196E probably damaging Het
Clec4n T C 6: 123,209,063 (GRCm39) F43L probably benign Het
Colgalt1 T A 8: 72,074,508 (GRCm39) C407S probably damaging Het
Csnk1g1 T A 9: 65,906,830 (GRCm39) probably null Het
Cyp2b23 T A 7: 26,385,851 (GRCm39) E2V probably damaging Het
Cyp51 T A 5: 4,152,929 (GRCm39) K91M probably damaging Het
Cyria A C 12: 12,414,798 (GRCm39) Y263S probably benign Het
Dnah8 G T 17: 30,882,348 (GRCm39) G640V probably benign Het
Dnajc2 G T 5: 21,965,637 (GRCm39) S505R possibly damaging Het
Fam124b A T 1: 80,191,053 (GRCm39) L110H probably damaging Het
Fem1b T A 9: 62,703,844 (GRCm39) Y472F probably benign Het
Frem1 A G 4: 82,932,049 (GRCm39) probably null Het
Gabrg1 A T 5: 70,973,415 (GRCm39) D46E probably damaging Het
Gbp4 T C 5: 105,266,161 (GRCm39) K627E probably benign Het
Glis1 A G 4: 107,491,900 (GRCm39) D776G probably damaging Het
Gm4847 A G 1: 166,467,575 (GRCm39) V207A possibly damaging Het
Gm7298 T A 6: 121,759,741 (GRCm39) Y1213* probably null Het
Gm8229 T A 14: 44,604,033 (GRCm39) L74* probably null Het
Hc A T 2: 34,887,411 (GRCm39) Y1364* probably null Het
Hnrnpa2b1 A T 6: 51,443,302 (GRCm39) S186R unknown Het
Hrh4 A G 18: 13,155,582 (GRCm39) I374V possibly damaging Het
Ighmbp2 A G 19: 3,311,490 (GRCm39) L975P probably damaging Het
Intu G A 3: 40,654,222 (GRCm39) V905I probably benign Het
Large1 T A 8: 73,843,071 (GRCm39) R151W probably damaging Het
Limd2 G A 11: 106,050,004 (GRCm39) T24M probably benign Het
Med16 A T 10: 79,734,206 (GRCm39) C569* probably null Het
Mettl1 T G 10: 126,880,390 (GRCm39) V104G possibly damaging Het
Mgat4c A G 10: 102,220,900 (GRCm39) T61A probably benign Het
Mrs2 T C 13: 25,181,113 (GRCm39) E236G probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Noxred1 G A 12: 87,271,761 (GRCm39) A136V probably benign Het
Obscn T A 11: 59,024,588 (GRCm39) D484V probably damaging Het
Picalm C A 7: 89,779,876 (GRCm39) H32Q probably benign Het
Pik3r5 G A 11: 68,381,431 (GRCm39) G206R probably damaging Het
Plekhh2 G A 17: 84,882,434 (GRCm39) C680Y probably benign Het
Plxna1 A G 6: 89,300,241 (GRCm39) F1614S probably damaging Het
Ppip5k1 T C 2: 121,147,235 (GRCm39) M1129V probably benign Het
Prp2 C T 6: 132,572,928 (GRCm39) T7I unknown Het
Rrbp1 A T 2: 143,789,815 (GRCm39) probably benign Het
Sdhaf3 C T 6: 7,038,855 (GRCm39) T59M probably benign Het
Slc17a6 T A 7: 51,275,253 (GRCm39) I104N probably benign Het
Slc35c1 A T 2: 92,289,402 (GRCm39) W48R probably damaging Het
Slc5a4b A T 10: 75,910,886 (GRCm39) C317S probably damaging Het
Smim13 G T 13: 41,403,650 (GRCm39) probably benign Het
Snrpg T C 6: 86,355,761 (GRCm39) V76A probably benign Het
Sntb2 C T 8: 107,738,164 (GRCm39) T509I probably benign Het
Sptbn1 T C 11: 30,079,601 (GRCm39) D1276G possibly damaging Het
Sptbn2 A G 19: 4,794,290 (GRCm39) E1498G possibly damaging Het
Stau1 T A 2: 166,792,787 (GRCm39) N393Y possibly damaging Het
Tars2 A T 3: 95,653,401 (GRCm39) S500T probably damaging Het
Tbc1d23 A T 16: 56,993,488 (GRCm39) D559E probably benign Het
Trav14-2 T C 14: 53,878,508 (GRCm39) Y64H possibly damaging Het
Trpm3 A C 19: 22,882,148 (GRCm39) E838D probably benign Het
Vmn1r23 G A 6: 57,903,541 (GRCm39) A79V probably benign Het
Vmn1r48 G T 6: 90,013,431 (GRCm39) N131K probably benign Het
Vmn2r18 A T 5: 151,508,437 (GRCm39) M229K probably damaging Het
Zbtb4 G A 11: 69,666,863 (GRCm39) R56K probably benign Het
Zfp616 G T 11: 73,975,188 (GRCm39) G486W probably damaging Het
Zkscan8 A T 13: 21,704,580 (GRCm39) F453Y 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
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
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'- CACAAGTGTTGGCCTTACCG -3'
(R):5'- TCGTCTGGCTGTACTGATCC -3'

Sequencing Primer
(F):5'- CCTACAACACTGAGTTTTCTAGAAC -3'
(R):5'- CGACCCAAATCAGCAGTTTTATTC -3'
Posted On 2019-12-20