Incidental Mutation 'PIT4402001:Mrps9'
ID 555506
Institutional Source Beutler Lab
Gene Symbol Mrps9
Ensembl Gene ENSMUSG00000060679
Gene Name mitochondrial ribosomal protein S9
Synonyms 2310002A08Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.895) question?
Stock # PIT4402001 (G1)
Quality Score 195.009
Status Not validated
Chromosome 1
Chromosomal Location 42890393-42944843 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42935258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 188 (L188P)
Ref Sequence ENSEMBL: ENSMUSP00000056855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057208]
AlphaFold Q9D7N3
Predicted Effect probably benign
Transcript: ENSMUST00000057208
AA Change: L188P

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000056855
Gene: ENSMUSG00000060679
AA Change: L188P

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
Coding Region Coverage
  • 1x: 92.8%
  • 3x: 90.3%
  • 10x: 83.2%
  • 20x: 68.1%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T G 14: 59,380,084 (GRCm39) L71F probably damaging Het
Adamts9 C T 6: 92,849,328 (GRCm39) V1044I probably benign Het
Alcam T C 16: 52,115,497 (GRCm39) Y207C probably damaging Het
Aldh4a1 C A 4: 139,369,502 (GRCm39) S351* probably null Het
Aoah C A 13: 20,978,680 (GRCm39) S39R probably benign Het
Arcn1 A T 9: 44,656,899 (GRCm39) V421E possibly damaging Het
Ccdc18 A G 5: 108,306,485 (GRCm39) E300G possibly damaging Het
Cdk2ap2 C A 19: 4,148,557 (GRCm39) R126S probably damaging Het
Dcun1d4 A G 5: 73,668,276 (GRCm39) I39V probably benign Het
Fam53b A T 7: 132,361,746 (GRCm39) I94N probably damaging Het
Fam83g A G 11: 61,594,422 (GRCm39) H652R probably damaging Het
Fanca A T 8: 124,039,803 (GRCm39) M157K possibly damaging Het
Flt1 A T 5: 147,615,049 (GRCm39) I299N probably damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gns A G 10: 121,212,611 (GRCm39) Y191C probably damaging Het
Grin2a T C 16: 9,462,063 (GRCm39) T690A possibly damaging Het
Gsk3b C T 16: 37,909,763 (GRCm39) probably benign Het
Igsf10 A G 3: 59,233,000 (GRCm39) V1911A probably benign Het
Igsf3 A G 3: 101,334,393 (GRCm39) K157E probably benign Het
Inpp5a T C 7: 139,091,369 (GRCm39) Y118H probably benign Het
Kmt2a A G 9: 44,752,359 (GRCm39) V1413A unknown Het
Mettl9 T A 7: 120,656,440 (GRCm39) V190E probably damaging Het
Myo9a A T 9: 59,777,719 (GRCm39) R1158S possibly damaging Het
Nacad T G 11: 6,548,621 (GRCm39) Q1371P probably benign Het
Ncoa1 T C 12: 4,344,987 (GRCm39) M787V probably benign Het
Noxred1 A T 12: 87,273,855 (GRCm39) I62K probably benign Het
Or1j4 A T 2: 36,740,316 (GRCm39) H86L probably benign Het
Or2d3b T A 7: 106,514,294 (GRCm39) D296E possibly damaging Het
Or2y17 A G 11: 49,232,226 (GRCm39) Y289C probably damaging Het
Or52d1 A G 7: 103,755,657 (GRCm39) Y57C probably damaging Het
Otud6b A G 4: 14,818,185 (GRCm39) Y239H probably damaging Het
Pank1 A G 19: 34,818,366 (GRCm39) Y233H probably damaging Het
Pccb G T 9: 100,877,645 (GRCm39) D286E probably benign Het
Plek A C 11: 16,940,121 (GRCm39) L196R probably benign Het
Pou6f2 T C 13: 18,299,931 (GRCm39) H576R Het
Rbm47 T A 5: 66,184,354 (GRCm39) Y83F probably damaging Het
Rbm6 A T 9: 107,665,049 (GRCm39) Y787N probably damaging Het
Slc8a2 C A 7: 15,868,419 (GRCm39) A217E probably damaging Het
Suox G A 10: 128,507,164 (GRCm39) A288V probably damaging Het
Tbccd1 T C 16: 22,640,873 (GRCm39) I501M probably damaging Het
Tjp2 C A 19: 24,075,493 (GRCm39) G1042* probably null Het
Tmtc2 T C 10: 105,249,268 (GRCm39) Y155C probably damaging Het
Usp7 T C 16: 8,516,359 (GRCm39) N600S probably benign Het
Zer1 T C 2: 29,991,132 (GRCm39) I699V probably damaging Het
Zfp142 A G 1: 74,618,687 (GRCm39) F227S 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
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
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
(F):5'- GCGCTTACAGCAAAATGTTTAC -3'
(R):5'- ACAAGGCTAAGTGTCTGGGG -3'

Sequencing Primer
(F):5'- ACTCAGAGTGTCTTTTCTCAGG -3'
(R):5'- TAAGTGTCTGGGGCACACCTG -3'
Posted On 2019-06-07