Incidental Mutation 'R4195:Mrps9'
ID 318514
Institutional Source Beutler Lab
Gene Symbol Mrps9
Ensembl Gene ENSMUSG00000060679
Gene Name mitochondrial ribosomal protein S9
Synonyms 2310002A08Rik
MMRRC Submission 041026-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.895) question?
Stock # R4195 (G1)
Quality Score 221
Status Validated
Chromosome 1
Chromosomal Location 42890393-42944843 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to G at 42940254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000057208]
AlphaFold Q9D7N3
Predicted Effect probably benign
Transcript: ENSMUST00000057208
SMART Domains Protein: ENSMUSP00000056855
Gene: ENSMUSG00000060679

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: ENSMUST00000185376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187414
Predicted Effect probably benign
Transcript: ENSMUST00000201108
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202358
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (40/41)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd T G 1: 127,676,931 (GRCm39) L152R probably damaging Het
Actg2 T G 6: 83,500,155 (GRCm39) T39P probably damaging Het
Agap1 A G 1: 89,762,261 (GRCm39) E531G probably damaging Het
Alox12b A G 11: 69,060,426 (GRCm39) S661G probably benign Het
Apod T C 16: 31,116,392 (GRCm39) M113V probably benign Het
Atl3 A G 19: 7,495,911 (GRCm39) I171V possibly damaging Het
Atrn C A 2: 130,775,332 (GRCm39) T145K probably damaging Het
Cacna1f A G X: 7,475,169 (GRCm39) H57R probably damaging Het
Cdhr18 C A 14: 13,829,772 (GRCm38) V657L probably benign Het
Cldn9 T C 17: 23,902,148 (GRCm39) E159G probably damaging Het
Cnnm4 C A 1: 36,538,589 (GRCm39) H590Q probably benign Het
Col19a1 G A 1: 24,573,133 (GRCm39) S213L unknown Het
Cse1l A G 2: 166,771,899 (GRCm39) T387A probably damaging Het
Eif4enif1 T C 11: 3,193,186 (GRCm39) V675A possibly damaging Het
Fbll1 A G 11: 35,688,493 (GRCm39) S257P possibly damaging Het
Fbll1 T A 11: 35,688,699 (GRCm39) H188L possibly damaging Het
Frem2 A G 3: 53,446,689 (GRCm39) F2360L possibly damaging Het
G3bp2 A G 5: 92,203,275 (GRCm39) S349P probably damaging Het
Gm2396 A G 9: 88,799,715 (GRCm39) noncoding transcript Het
Gm6569 C T 15: 73,708,092 (GRCm39) P22L probably damaging Het
Itih2 T C 2: 10,120,096 (GRCm39) N314D probably damaging Het
Lman2l A C 1: 36,464,022 (GRCm39) I266M probably damaging Het
Mtmr11 T C 3: 96,075,207 (GRCm39) probably benign Het
Neb G T 2: 52,161,571 (GRCm39) R2074S probably damaging Het
Neb A T 2: 52,180,847 (GRCm39) H1226Q probably damaging Het
Nmi A C 2: 51,838,632 (GRCm39) S301A probably benign Het
Or11i1 A T 3: 106,729,328 (GRCm39) C182* probably null Het
Pclo A G 5: 14,727,577 (GRCm39) probably benign Het
Pkd1l1 T A 11: 8,859,929 (GRCm39) I560F probably damaging Het
Polr1e T C 4: 45,019,327 (GRCm39) Y59H probably damaging Het
Slc30a4 G A 2: 122,527,190 (GRCm39) T401M probably damaging Het
Tas1r3 T C 4: 155,947,442 (GRCm39) E81G probably damaging Het
Zfp990 A T 4: 145,263,547 (GRCm39) probably null Het
Zzz3 A G 3: 152,134,102 (GRCm39) T387A probably benign 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
R4196:Mrps9 UTSW 1 42,940,254 (GRCm39) intron probably benign
R4695:Mrps9 UTSW 1 42,901,675 (GRCm39) missense possibly damaging 0.59
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

Sequencing Primer
Posted On 2015-06-10