Incidental Mutation 'IGL02212:Mrpl9'
ID 285572
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl9
Ensembl Gene ENSMUSG00000028140
Gene Name mitochondrial ribosomal protein L9
Synonyms C330013D18Rik, 8030480E20Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # IGL02212
Quality Score
Status
Chromosome 3
Chromosomal Location 94350631-94355831 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 94351124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029786] [ENSMUST00000196143] [ENSMUST00000203883] [ENSMUST00000204548]
AlphaFold Q99N94
Predicted Effect probably null
Transcript: ENSMUST00000029786
SMART Domains Protein: ENSMUSP00000029786
Gene: ENSMUSG00000028140

DomainStartEndE-ValueType
Pfam:Ribosomal_L9_N 91 138 4.3e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000196143
SMART Domains Protein: ENSMUSP00000142859
Gene: ENSMUSG00000028140

DomainStartEndE-ValueType
Pfam:Ribosomal_L9_N 91 138 5.2e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199009
Predicted Effect probably null
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
Coding Region Coverage
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,079,233 (GRCm39) D1079V probably damaging Het
Adam18 T C 8: 25,127,195 (GRCm39) H467R probably benign Het
Ambra1 T G 2: 91,747,706 (GRCm39) D1056E probably damaging Het
Aoah A C 13: 21,187,071 (GRCm39) N456T probably benign Het
Batf2 T A 19: 6,221,991 (GRCm39) F267Y probably damaging Het
Bbs7 C T 3: 36,648,558 (GRCm39) V397I probably benign Het
Bbs9 T A 9: 22,723,808 (GRCm39) D824E probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Brip1 A T 11: 86,029,841 (GRCm39) V601E possibly damaging Het
Bub1 A G 2: 127,647,271 (GRCm39) F773L probably damaging Het
Cadps A T 14: 12,522,345 (GRCm38) D606E possibly damaging Het
Cenps T G 4: 149,213,303 (GRCm39) D54A probably damaging Het
Cep170 T A 1: 176,563,502 (GRCm39) N1504I probably damaging Het
Cttnbp2 A G 6: 18,382,748 (GRCm39) V1340A possibly damaging Het
D630003M21Rik A T 2: 158,052,091 (GRCm39) S667T probably benign Het
Defa38 C T 8: 21,585,276 (GRCm39) probably benign Het
Dgkb A G 12: 38,189,413 (GRCm39) Y272C probably damaging Het
Dlx3 A G 11: 95,011,467 (GRCm39) D107G probably benign Het
Drd3 A T 16: 43,582,675 (GRCm39) N56I probably benign Het
Elavl4 T A 4: 110,063,609 (GRCm39) I331F probably damaging Het
Fam167a T G 14: 63,700,078 (GRCm39) S213A probably damaging Het
Fasn A T 11: 120,698,729 (GRCm39) I2489N probably damaging Het
Fbxo43 T C 15: 36,151,957 (GRCm39) K587E probably damaging Het
Fscn2 A G 11: 120,252,881 (GRCm39) D116G probably damaging Het
Galm T C 17: 80,457,546 (GRCm39) V194A probably benign Het
Gpr180 T A 14: 118,397,588 (GRCm39) F361I probably damaging Het
Gpx2 A T 12: 76,839,682 (GRCm39) C105* probably null Het
Gsdmc2 A T 15: 63,699,911 (GRCm39) probably benign Het
Hes2 T G 4: 152,244,982 (GRCm39) S150R probably damaging Het
Ighv1-56 C T 12: 115,206,417 (GRCm39) probably benign Het
Inhbb A T 1: 119,345,713 (GRCm39) V192D probably benign Het
Itgal A T 7: 126,900,152 (GRCm39) M137L probably benign Het
Jak2 A G 19: 29,265,382 (GRCm39) N470D probably benign Het
Jph1 T C 1: 17,161,981 (GRCm39) E227G probably damaging Het
Kcnj6 A T 16: 94,633,346 (GRCm39) I237N probably damaging Het
Kctd8 G T 5: 69,498,031 (GRCm39) P205Q probably benign Het
Klhdc1 A T 12: 69,297,540 (GRCm39) N37I probably damaging Het
Lrp2 T A 2: 69,281,608 (GRCm39) H3921L probably benign Het
Lrp8os2 T C 4: 107,664,245 (GRCm39) probably benign Het
Man2a2 A C 7: 80,012,056 (GRCm39) D700E probably benign Het
Mast1 A T 8: 85,648,026 (GRCm39) L485Q probably damaging Het
Mmp3 A G 9: 7,450,165 (GRCm39) D299G probably damaging Het
Mptx2 T A 1: 173,102,248 (GRCm39) D147V possibly damaging Het
Mup21 T G 4: 62,066,829 (GRCm39) E137A probably damaging Het
Mutyh T A 4: 116,672,803 (GRCm39) V52D probably damaging Het
Nalcn T A 14: 123,752,742 (GRCm39) S340C probably damaging Het
Neb A G 2: 52,198,323 (GRCm39) Y474H probably damaging Het
Nol8 A G 13: 49,815,626 (GRCm39) E560G possibly damaging Het
Ntn4 A G 10: 93,480,711 (GRCm39) D145G possibly damaging Het
Nup93 G A 8: 95,038,290 (GRCm39) probably null Het
Or1j17 A G 2: 36,578,194 (GRCm39) Y60C probably damaging Het
Or2n1b C A 17: 38,459,746 (GRCm39) T89K probably benign Het
Or2y14 A T 11: 49,404,737 (GRCm39) I91F probably damaging Het
Or52b2 C T 7: 104,986,350 (GRCm39) C191Y probably damaging Het
Pcdhb8 T A 18: 37,489,465 (GRCm39) V40E possibly damaging Het
Peg3 C T 7: 6,714,415 (GRCm39) R269H probably benign Het
Piwil1 T A 5: 128,827,334 (GRCm39) F648I possibly damaging Het
Psd4 A T 2: 24,295,326 (GRCm39) K827* probably null Het
Retsat T A 6: 72,578,693 (GRCm39) L135* probably null Het
Rtp3 A G 9: 110,816,389 (GRCm39) probably benign Het
Samd14 A G 11: 94,914,176 (GRCm39) Y305C probably damaging Het
Satb1 T A 17: 52,082,319 (GRCm39) Q445L possibly damaging Het
Shbg A G 11: 69,508,035 (GRCm39) L110P probably damaging Het
Slc17a6 T A 7: 51,317,218 (GRCm39) I413N possibly damaging Het
Slu7 A T 11: 43,331,469 (GRCm39) Q201L probably benign Het
Spg11 T C 2: 121,938,638 (GRCm39) T439A probably benign Het
Sstr5 A T 17: 25,710,647 (GRCm39) L194Q possibly damaging Het
Tjp2 A T 19: 24,116,150 (GRCm39) L13Q probably damaging Het
Tnk2 G A 16: 32,498,960 (GRCm39) V758I probably damaging Het
Ttll8 C A 15: 88,801,450 (GRCm39) V413L probably benign Het
Wiz T C 17: 32,587,109 (GRCm39) D67G probably 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
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
R7705:Mrpl9 UTSW 3 94,351,075 (GRCm39) missense possibly damaging 0.52
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
Posted On 2015-04-16