Incidental Mutation 'IGL02642:Mrps11'
ID 301804
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps11
Ensembl Gene ENSMUSG00000030611
Gene Name mitochondrial ribosomal protein S11
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # IGL02642
Quality Score
Status
Chromosome 7
Chromosomal Location 78432879-78442736 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 78438522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032840] [ENSMUST00000133553]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000032840
SMART Domains Protein: ENSMUSP00000032840
Gene: ENSMUSG00000030611

DomainStartEndE-ValueType
Pfam:Ribosomal_S11 81 190 1.2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133304
Predicted Effect probably benign
Transcript: ENSMUST00000133553
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136001
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 that contains a high level of sequence similarity with ribosomal protein S11P family members. A pseudogene corresponding to this gene is found on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm T C 3: 153,644,720 (GRCm39) D68G probably damaging Het
Amer3 A G 1: 34,625,761 (GRCm39) probably benign Het
Ankrd11 A G 8: 123,617,390 (GRCm39) L2133P probably damaging Het
Bcdin3d G T 15: 99,368,673 (GRCm39) H175Q probably damaging Het
Brd8 C A 18: 34,741,117 (GRCm39) probably benign Het
C1rl C A 6: 124,470,806 (GRCm39) T38N possibly damaging Het
Cd160 T C 3: 96,707,927 (GRCm39) T140A probably benign Het
Cdk16 T G X: 20,563,167 (GRCm39) D381E probably benign Het
Cpq G A 15: 33,381,546 (GRCm39) G303D probably damaging Het
Dmp1 T C 5: 104,359,536 (GRCm39) S71P probably damaging Het
Enc1 A C 13: 97,382,042 (GRCm39) D184A possibly damaging Het
Enkur T C 2: 21,199,198 (GRCm39) D112G probably benign Het
Esrra A T 19: 6,890,218 (GRCm39) V59E possibly damaging Het
F830016B08Rik A G 18: 60,433,058 (GRCm39) N47S probably benign Het
Fads1 T A 19: 10,163,785 (GRCm39) V189D probably damaging Het
Fam167a T A 14: 63,689,721 (GRCm39) I6N probably damaging Het
Fam98b A G 2: 117,090,793 (GRCm39) T164A probably benign Het
Fhip2a A G 19: 57,373,782 (GRCm39) N681D possibly damaging Het
Fryl T A 5: 73,252,809 (GRCm39) I953L probably benign Het
Gm10610 T A 7: 83,198,813 (GRCm39) noncoding transcript Het
Grik5 G T 7: 24,758,408 (GRCm39) N338K possibly damaging Het
Gstt2 A G 10: 75,668,652 (GRCm39) I72T probably benign Het
Gusb T C 5: 130,029,376 (GRCm39) probably null Het
Hccs A G X: 168,098,588 (GRCm39) probably benign Het
Hoxb4 A G 11: 96,211,050 (GRCm39) K217E probably damaging Het
Hpd C T 5: 123,319,503 (GRCm39) V22I possibly damaging Het
Ighv1-47 A G 12: 114,954,844 (GRCm39) Y79H probably damaging Het
Il7r C A 15: 9,513,133 (GRCm39) probably benign Het
Lama1 A T 17: 68,119,361 (GRCm39) M2613L probably benign Het
Lama2 G A 10: 27,343,269 (GRCm39) H68Y probably damaging Het
Lce1c C A 3: 92,587,845 (GRCm39) probably benign Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Lrfn1 T C 7: 28,158,113 (GRCm39) probably benign Het
Lrriq1 T A 10: 103,057,322 (GRCm39) probably null Het
Mri1 A T 8: 84,983,702 (GRCm39) L63Q probably damaging Het
Mtif2 C A 11: 29,494,395 (GRCm39) Q666K probably benign Het
Mtr A T 13: 12,210,118 (GRCm39) probably benign Het
Mug1 A G 6: 121,859,544 (GRCm39) N1181S probably benign Het
Myom1 A T 17: 71,408,093 (GRCm39) E1209V possibly damaging Het
Nhsl1 A G 10: 18,284,138 (GRCm39) I26M possibly damaging Het
Nlrp1a T A 11: 71,014,358 (GRCm39) K297N probably benign Het
Obox5 T C 7: 15,491,972 (GRCm39) V129A probably benign Het
Pex16 C T 2: 92,206,981 (GRCm39) A53V probably damaging Het
Pfpl T C 19: 12,407,107 (GRCm39) F453L probably damaging Het
Pip5k1b G T 19: 24,323,731 (GRCm39) H406N probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Plcxd3 T C 15: 4,546,122 (GRCm39) F42S possibly damaging Het
Pnpla7 T C 2: 24,940,288 (GRCm39) F1056L probably benign Het
Rapgef1 T C 2: 29,590,872 (GRCm39) probably benign Het
Rdh11 G A 12: 79,232,110 (GRCm39) probably benign Het
Serac1 A G 17: 6,096,021 (GRCm39) F576S possibly damaging Het
Slc45a4 A T 15: 73,458,664 (GRCm39) M295K probably benign Het
Taf1c T C 8: 120,325,796 (GRCm39) T689A probably benign Het
Timm10b G T 7: 105,317,645 (GRCm39) probably benign Het
Tle5 A T 10: 81,397,126 (GRCm39) Q34L possibly damaging Het
Tnc A T 4: 63,883,816 (GRCm39) probably benign Het
Toporsl T C 4: 52,611,114 (GRCm39) W336R probably benign Het
Usp54 C A 14: 20,615,140 (GRCm39) probably benign Het
Vmn1r233 T C 17: 21,214,291 (GRCm39) R220G probably damaging Het
Other mutations in Mrps11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03325:Mrps11 APN 7 78,440,453 (GRCm39) missense probably damaging 1.00
R0831:Mrps11 UTSW 7 78,441,611 (GRCm39) splice site probably benign
R1432:Mrps11 UTSW 7 78,433,310 (GRCm39) splice site probably benign
R1733:Mrps11 UTSW 7 78,442,460 (GRCm39) missense probably damaging 1.00
R2909:Mrps11 UTSW 7 78,438,497 (GRCm39) missense probably damaging 1.00
R3852:Mrps11 UTSW 7 78,440,393 (GRCm39) missense probably damaging 1.00
R4623:Mrps11 UTSW 7 78,441,689 (GRCm39) critical splice donor site probably null
R5685:Mrps11 UTSW 7 78,441,628 (GRCm39) missense probably benign 0.06
R5752:Mrps11 UTSW 7 78,433,343 (GRCm39) missense probably benign 0.05
R6091:Mrps11 UTSW 7 78,438,466 (GRCm39) missense possibly damaging 0.87
R8184:Mrps11 UTSW 7 78,433,125 (GRCm39) missense possibly damaging 0.65
R8762:Mrps11 UTSW 7 78,438,487 (GRCm39) missense possibly damaging 0.49
R9178:Mrps11 UTSW 7 78,440,444 (GRCm39) missense probably damaging 1.00
R9453:Mrps11 UTSW 7 78,442,390 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16