Incidental Mutation 'R4695:Mrps9'
ID 355599
Institutional Source Beutler Lab
Gene Symbol Mrps9
Ensembl Gene ENSMUSG00000060679
Gene Name mitochondrial ribosomal protein S9
Synonyms 2310002A08Rik
MMRRC Submission 042016-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.895) question?
Stock # R4695 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 42890393-42944843 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42901675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 61 (V61D)
Ref Sequence ENSEMBL: ENSMUSP00000056855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057208]
AlphaFold Q9D7N3
Predicted Effect possibly damaging
Transcript: ENSMUST00000057208
AA Change: V61D

PolyPhen 2 Score 0.589 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000056855
Gene: ENSMUSG00000060679
AA Change: V61D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 194 207 N/A INTRINSIC
Pfam:Ribosomal_S9 268 390 7.3e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104260
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187414
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188174
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
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. This gene encodes a 28S subunit protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts10 T A 17: 33,750,713 (GRCm39) M251K possibly damaging Het
Adcy2 A T 13: 68,875,962 (GRCm39) H513Q possibly damaging Het
Afg2a T G 3: 37,512,474 (GRCm39) F713C probably damaging Het
Ahctf1 A G 1: 179,580,619 (GRCm39) L1861P possibly damaging Het
Apc2 C A 10: 80,146,877 (GRCm39) R615S probably damaging Het
Arhgap45 A C 10: 79,861,364 (GRCm39) D509A probably damaging Het
Atp6v1c2 T C 12: 17,351,208 (GRCm39) T108A probably benign Het
Blm T A 7: 80,143,976 (GRCm39) D821V probably damaging Het
C3 T A 17: 57,528,057 (GRCm39) I721L probably benign Het
Ccdc13 A T 9: 121,649,826 (GRCm39) V207E probably damaging Het
Ccndbp1 C T 2: 120,845,208 (GRCm39) probably benign Het
Cd180 A C 13: 102,842,268 (GRCm39) Q438P probably benign Het
Cd248 C T 19: 5,118,473 (GRCm39) T107M probably damaging Het
Cdan1 G A 2: 120,558,864 (GRCm39) R445C probably damaging Het
Cic C A 7: 24,973,013 (GRCm39) H915N possibly damaging Het
Cox8c T C 12: 102,865,742 (GRCm39) S40P possibly damaging Het
Cyp2d34 A T 15: 82,501,092 (GRCm39) C347S probably benign Het
Dhx30 A T 9: 109,914,356 (GRCm39) F974I probably damaging Het
Dlec1 A T 9: 118,972,221 (GRCm39) T1414S probably benign Het
Dlg2 C A 7: 92,087,170 (GRCm39) probably null Het
Dynlt5 T A 4: 102,861,426 (GRCm39) I136K probably damaging Het
Dzip1l T A 9: 99,529,258 (GRCm39) M329K probably benign Het
Dzip3 A T 16: 48,771,924 (GRCm39) L582I probably damaging Het
Emilin2 T C 17: 71,559,773 (GRCm39) Y1068C probably damaging Het
Fam221b T A 4: 43,659,622 (GRCm39) probably null Het
Fbxw22 A G 9: 109,207,939 (GRCm39) I444T probably damaging Het
Flnc T A 6: 29,440,428 (GRCm39) N245K probably damaging Het
Fnip1 T A 11: 54,390,245 (GRCm39) I380N probably damaging Het
Gbf1 C T 19: 46,247,606 (GRCm39) R181* probably null Het
Igkv6-17 T A 6: 70,348,486 (GRCm39) F12I probably benign Het
Itln1 C A 1: 171,358,645 (GRCm39) G174V probably damaging Het
Lrrc52 A G 1: 167,293,660 (GRCm39) probably null Het
LTO1 T C 7: 144,482,715 (GRCm39) probably null Het
Matn2 A G 15: 34,403,071 (GRCm39) Y432C probably damaging Het
Metap1d A G 2: 71,355,305 (GRCm39) *336W probably null Het
Mgam2-ps T A 6: 40,779,489 (GRCm39) noncoding transcript Het
Myh7b T C 2: 155,456,097 (GRCm39) Y161H probably damaging Het
Myh9 T A 15: 77,653,053 (GRCm39) D1428V probably damaging Het
N4bp3 A T 11: 51,535,306 (GRCm39) probably null Het
Nat9 T A 11: 115,075,416 (GRCm39) Q75L probably benign Het
Nop2 T C 6: 125,121,519 (GRCm39) V767A probably benign Het
Ntrk2 A G 13: 59,274,307 (GRCm39) K728E probably damaging Het
Or51e1 T G 7: 102,358,764 (GRCm39) C99W probably damaging Het
Or5p72 G A 7: 108,022,196 (GRCm39) M139I probably benign Het
Or7g21 T A 9: 19,032,306 (GRCm39) H15Q probably null Het
Pcdhgb2 A G 18: 37,825,375 (GRCm39) T789A probably benign Het
Pcyt2 T C 11: 120,502,000 (GRCm39) D321G probably benign Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rbbp8 A T 18: 11,854,839 (GRCm39) K355* probably null Het
Rhag T C 17: 41,147,358 (GRCm39) Y407H probably damaging Het
Robo4 G A 9: 37,314,495 (GRCm39) V161M probably damaging Het
Rpl27-ps3 C A 18: 6,332,922 (GRCm39) N97K probably benign Het
Slc45a4 A G 15: 73,453,924 (GRCm39) I691T possibly damaging Het
Slc9a9 A T 9: 94,818,502 (GRCm39) probably benign Het
Stard13 A G 5: 150,984,280 (GRCm39) F619L probably benign Het
Stt3b A T 9: 115,083,862 (GRCm39) V438E probably damaging Het
Tacr3 C T 3: 134,535,182 (GRCm39) T50I probably benign Het
Tacr3 G T 3: 134,635,690 (GRCm39) C298F probably damaging Het
Taok3 C T 5: 117,366,131 (GRCm39) T394M probably benign Het
Tgfb1i1 A G 7: 127,848,348 (GRCm39) D128G probably damaging Het
Tgfbr3l G T 8: 4,300,574 (GRCm39) V251L probably benign Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Top3a A G 11: 60,633,238 (GRCm39) S953P probably benign Het
Trappc10 T C 10: 78,033,697 (GRCm39) K957E probably damaging Het
Ttn T A 2: 76,565,668 (GRCm39) E28228V probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vdr A T 15: 97,756,801 (GRCm39) probably null Het
Zfp42 A T 8: 43,749,168 (GRCm39) L111Q probably damaging Het
Other mutations in Mrps9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Mrps9 APN 1 42,944,619 (GRCm39) missense probably damaging 1.00
IGL01134:Mrps9 APN 1 42,942,557 (GRCm39) missense probably damaging 0.97
IGL01557:Mrps9 APN 1 42,890,510 (GRCm39) missense probably benign
IGL02541:Mrps9 APN 1 42,901,814 (GRCm39) splice site probably null
PIT4402001:Mrps9 UTSW 1 42,935,258 (GRCm39) missense probably benign 0.10
R0598:Mrps9 UTSW 1 42,944,577 (GRCm39) missense probably damaging 1.00
R1718:Mrps9 UTSW 1 42,942,559 (GRCm39) missense probably damaging 1.00
R4195:Mrps9 UTSW 1 42,940,254 (GRCm39) intron probably benign
R4196:Mrps9 UTSW 1 42,940,254 (GRCm39) intron probably benign
R4840:Mrps9 UTSW 1 42,937,575 (GRCm39) intron probably benign
R5033:Mrps9 UTSW 1 42,934,491 (GRCm39) splice site probably null
R5489:Mrps9 UTSW 1 42,937,593 (GRCm39) splice site probably benign
R5876:Mrps9 UTSW 1 42,934,538 (GRCm39) missense probably damaging 0.99
R6891:Mrps9 UTSW 1 42,944,573 (GRCm39) missense probably damaging 1.00
R7015:Mrps9 UTSW 1 42,937,706 (GRCm39) missense probably benign 0.04
R7940:Mrps9 UTSW 1 42,901,808 (GRCm39) missense probably damaging 0.98
R8679:Mrps9 UTSW 1 42,918,915 (GRCm39) missense probably damaging 0.99
R9117:Mrps9 UTSW 1 42,942,537 (GRCm39) missense probably benign 0.22
Z1177:Mrps9 UTSW 1 42,938,618 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- GAGCAGAGGTTATGTCTAGCAC -3'
(R):5'- AAGAGCAGTGCTGTTCAGAC -3'

Sequencing Primer
(F):5'- AGCAGAGGTTATGTCTAGCACTTTGG -3'
(R):5'- AGTGCTGTTCAGACCCACAG -3'
Posted On 2015-10-21