Incidental Mutation 'IGL01557:Mrps9'
ID 90743
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps9
Ensembl Gene ENSMUSG00000060679
Gene Name mitochondrial ribosomal protein S9
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.930) question?
Stock # IGL01557
Quality Score
Status
Chromosome 1
Chromosomal Location 42851233-42905683 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42851350 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 20 (V20A)
Ref Sequence ENSEMBL: ENSMUSP00000056855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057208]
AlphaFold Q9D7N3
Predicted Effect probably benign
Transcript: ENSMUST00000057208
AA Change: V20A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056855
Gene: ENSMUSG00000060679
AA Change: V20A

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: ENSMUST00000185376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188174
Coding Region Coverage
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 58,968,720 probably null Het
Arl9 T G 5: 77,004,101 probably null Het
Ces3a C A 8: 105,057,751 T439K probably damaging Het
Cyp3a25 A G 5: 145,984,901 W408R probably damaging Het
Defb22 T G 2: 152,486,079 D62A possibly damaging Het
Dnah17 C T 11: 118,073,686 R2422Q probably damaging Het
Ehd3 A G 17: 73,805,280 K13R probably benign Het
Fndc1 T C 17: 7,756,389 E1406G probably damaging Het
Gak A C 5: 108,584,337 Y762D probably damaging Het
Igf2r A G 17: 12,704,635 S1187P possibly damaging Het
Ighmbp2 T C 19: 3,281,472 E68G probably benign Het
Itpr2 T C 6: 146,158,976 T2448A probably damaging Het
Lrrk2 T G 15: 91,699,989 C317W probably damaging Het
Morc1 T A 16: 48,498,766 S278T probably damaging Het
Nutm1 A T 2: 112,251,818 N304K probably benign Het
Olfr761 G A 17: 37,952,851 P58S probably damaging Het
Pcdhb9 T C 18: 37,403,047 V698A probably damaging Het
Pitrm1 C A 13: 6,552,684 D70E probably benign Het
Pkhd1 T C 1: 20,116,979 T3702A possibly damaging Het
Ppm1h A T 10: 122,782,181 probably null Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Ptpn5 T C 7: 47,081,888 Y411C probably damaging Het
Spon2 G A 5: 33,216,703 A112V probably damaging Het
Zfp648 T A 1: 154,204,680 V195D probably benign Het
Other mutations in Mrps9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Mrps9 APN 1 42905459 missense probably damaging 1.00
IGL01134:Mrps9 APN 1 42903397 missense probably damaging 0.97
IGL02541:Mrps9 APN 1 42862654 splice site probably null
PIT4402001:Mrps9 UTSW 1 42896098 missense probably benign 0.10
R0598:Mrps9 UTSW 1 42905417 missense probably damaging 1.00
R1718:Mrps9 UTSW 1 42903399 missense probably damaging 1.00
R4195:Mrps9 UTSW 1 42901094 intron probably benign
R4196:Mrps9 UTSW 1 42901094 intron probably benign
R4695:Mrps9 UTSW 1 42862515 missense possibly damaging 0.59
R4840:Mrps9 UTSW 1 42898415 intron probably benign
R5033:Mrps9 UTSW 1 42895331 splice site probably null
R5489:Mrps9 UTSW 1 42898433 splice site probably benign
R5876:Mrps9 UTSW 1 42895378 missense probably damaging 0.99
R6891:Mrps9 UTSW 1 42905413 missense probably damaging 1.00
R7015:Mrps9 UTSW 1 42898546 missense probably benign 0.04
R7940:Mrps9 UTSW 1 42862648 missense probably damaging 0.98
R8679:Mrps9 UTSW 1 42879755 missense probably damaging 0.99
R9117:Mrps9 UTSW 1 42903377 missense probably benign 0.22
Z1177:Mrps9 UTSW 1 42899458 missense probably benign 0.09
Posted On 2013-12-09