Incidental Mutation 'R7705:Mrpl9'
ID 594220
Institutional Source Beutler Lab
Gene Symbol Mrpl9
Ensembl Gene ENSMUSG00000028140
Gene Name mitochondrial ribosomal protein L9
Synonyms C330013D18Rik, 8030480E20Rik
MMRRC Submission 045766-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R7705 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 94350631-94355831 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94351075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 85 (H85R)
Ref Sequence ENSEMBL: ENSMUSP00000142859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029786] [ENSMUST00000196143] [ENSMUST00000203883] [ENSMUST00000204548]
AlphaFold Q99N94
Predicted Effect probably benign
Transcript: ENSMUST00000029786
AA Change: H85R

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029786
Gene: ENSMUSG00000028140
AA Change: H85R

DomainStartEndE-ValueType
Pfam:Ribosomal_L9_N 91 138 4.3e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000196143
AA Change: H85R

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142859
Gene: ENSMUSG00000028140
AA Change: H85R

DomainStartEndE-ValueType
Pfam:Ribosomal_L9_N 91 138 5.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203883
SMART Domains Protein: ENSMUSP00000145484
Gene: ENSMUSG00000028141

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
Pfam:ODC_AZ 91 189 4.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204548
SMART Domains Protein: ENSMUSP00000145079
Gene: ENSMUSG00000028141

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
Meta Mutation Damage Score 0.2375 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This is a nuclear gene encoding a protein component of the 39S subunit of the mitochondrial ribosome. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 G A 3: 59,784,168 (GRCm39) A214T probably benign Het
Abcb9 G T 5: 124,220,018 (GRCm39) Y342* probably null Het
Acad9 C T 3: 36,142,675 (GRCm39) T470M probably benign Het
Ankmy2 A G 12: 36,245,107 (GRCm39) E379G probably benign Het
Cand1 A G 10: 119,048,343 (GRCm39) probably null Het
Ccdc171 A G 4: 83,476,193 (GRCm39) T203A possibly damaging Het
Cpeb4 A G 11: 31,822,327 (GRCm39) T14A probably damaging Het
Cplane1 T G 15: 8,211,736 (GRCm39) F359V probably damaging Het
Crtap A T 9: 114,210,747 (GRCm39) C276S probably damaging Het
Csf2rb2 T C 15: 78,168,774 (GRCm39) I794V probably benign Het
Ctsf T G 19: 4,906,567 (GRCm39) F165V probably damaging Het
Cux2 T A 5: 122,007,736 (GRCm39) M642L probably benign Het
Dpep1 T C 8: 123,927,460 (GRCm39) V338A possibly damaging Het
Dytn A G 1: 63,717,948 (GRCm39) L29P probably damaging Het
E2f3 G A 13: 30,169,306 (GRCm39) R116C probably benign Het
Edc3 T C 9: 57,647,197 (GRCm39) V282A probably benign Het
Epha1 A G 6: 42,339,602 (GRCm39) V630A probably damaging Het
Erc1 A G 6: 119,801,564 (GRCm39) I151T probably benign Het
Fam83h C T 15: 75,875,699 (GRCm39) R546H probably damaging Het
Fbxl14 A T 6: 119,457,742 (GRCm39) K308* probably null Het
Fbxw24 A T 9: 109,437,516 (GRCm39) probably null Het
Gldn T A 9: 54,245,976 (GRCm39) M509K probably benign Het
Gpr139 T C 7: 118,743,866 (GRCm39) I240V probably benign Het
Herc1 G T 9: 66,347,116 (GRCm39) M1990I possibly damaging Het
Hmgcr A G 13: 96,793,231 (GRCm39) I467T probably benign Het
Isl2 T C 9: 55,449,685 (GRCm39) F85L probably benign Het
Lat T C 7: 125,963,612 (GRCm39) N197D probably damaging Het
Marchf1 T C 8: 66,921,169 (GRCm39) V282A probably benign Het
Meiosin T A 7: 18,835,044 (GRCm39) D393V unknown Het
Mterf2 G T 10: 84,956,381 (GRCm39) A81E probably damaging Het
Mtr A G 13: 12,264,782 (GRCm39) C107R probably benign Het
Nlrp4c T A 7: 6,075,635 (GRCm39) V642E probably damaging Het
Or5b12b A G 19: 12,861,871 (GRCm39) I209V probably benign Het
Or6c212 T A 10: 129,559,018 (GRCm39) I132F probably benign Het
Pdik1l A G 4: 134,006,804 (GRCm39) S112P unknown Het
Pex19 GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC 1: 171,956,150 (GRCm39) probably null Het
Rest T A 5: 77,416,119 (GRCm39) L111Q probably damaging Het
Slc28a2b A C 2: 122,352,110 (GRCm39) probably null Het
Spg7 A C 8: 123,800,617 (GRCm39) D169A possibly damaging Het
Syt3 T C 7: 44,042,083 (GRCm39) V314A possibly damaging Het
Tbc1d20 G C 2: 152,150,004 (GRCm39) G144R probably damaging Het
Tlk1 A T 2: 70,617,016 (GRCm39) probably null Het
Tmem147 T G 7: 30,427,716 (GRCm39) probably null Het
Trip12 A T 1: 84,755,170 (GRCm39) D401E probably damaging Het
Ulbp1 A G 10: 7,395,685 (GRCm39) S291P unknown Het
Usp19 A G 9: 108,379,112 (GRCm39) D1286G possibly damaging Het
Usp49 T C 17: 47,989,873 (GRCm39) F553L probably damaging Het
Zfp352 A G 4: 90,113,512 (GRCm39) T551A possibly damaging Het
Other mutations in Mrpl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Mrpl9 APN 3 94,351,003 (GRCm39) missense probably damaging 1.00
IGL01609:Mrpl9 APN 3 94,352,001 (GRCm39) missense probably damaging 1.00
IGL02131:Mrpl9 APN 3 94,352,020 (GRCm39) critical splice donor site probably null
IGL02212:Mrpl9 APN 3 94,351,124 (GRCm39) splice site probably null
IGL02976:Mrpl9 APN 3 94,355,084 (GRCm39) unclassified probably benign
PIT4382001:Mrpl9 UTSW 3 94,355,136 (GRCm39) missense probably benign
R0445:Mrpl9 UTSW 3 94,352,198 (GRCm39) unclassified probably benign
R2424:Mrpl9 UTSW 3 94,351,113 (GRCm39) missense probably benign 0.08
R2914:Mrpl9 UTSW 3 94,351,108 (GRCm39) missense probably damaging 0.99
R3119:Mrpl9 UTSW 3 94,355,097 (GRCm39) missense probably damaging 1.00
R3724:Mrpl9 UTSW 3 94,355,073 (GRCm39) splice site probably null
R5801:Mrpl9 UTSW 3 94,355,103 (GRCm39) missense possibly damaging 0.91
R6286:Mrpl9 UTSW 3 94,351,097 (GRCm39) missense probably benign 0.07
R6767:Mrpl9 UTSW 3 94,357,528 (GRCm39) unclassified probably benign
R6824:Mrpl9 UTSW 3 94,350,677 (GRCm39) missense possibly damaging 0.64
R7130:Mrpl9 UTSW 3 94,354,597 (GRCm39) missense probably benign 0.09
R8052:Mrpl9 UTSW 3 94,351,050 (GRCm39) missense probably damaging 0.96
R8744:Mrpl9 UTSW 3 94,355,082 (GRCm39) unclassified probably benign
R8765:Mrpl9 UTSW 3 94,355,129 (GRCm39) missense possibly damaging 0.95
R9084:Mrpl9 UTSW 3 94,354,558 (GRCm39) unclassified probably benign
R9214:Mrpl9 UTSW 3 94,355,126 (GRCm39) missense possibly damaging 0.95
R9701:Mrpl9 UTSW 3 94,351,892 (GRCm39) critical splice acceptor site probably null
Z1177:Mrpl9 UTSW 3 94,350,680 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTCTCATTATCAGGTGAGGGCC -3'
(R):5'- TTTTCTCACCAGAACCACAAAGTAG -3'

Sequencing Primer
(F):5'- TTCGTGCCAGACTCAGACTG -3'
(R):5'- GAACCACAAAGTAGTAAAAACAAAGC -3'
Posted On 2019-11-12