Incidental Mutation 'R3852:Mrps11'
ID 275971
Institutional Source Beutler Lab
Gene Symbol Mrps11
Ensembl Gene ENSMUSG00000030611
Gene Name mitochondrial ribosomal protein S11
Synonyms
MMRRC Submission 040784-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R3852 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 78432879-78442736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78440393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 94 (I94T)
Ref Sequence ENSEMBL: ENSMUSP00000032840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032840] [ENSMUST00000133553]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032840
AA Change: I94T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032840
Gene: ENSMUSG00000030611
AA Change: I94T

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
Meta Mutation Damage Score 0.9077 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 96% (45/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T C 16: 20,379,189 (GRCm39) V685A probably damaging Het
Abhd4 T C 14: 54,502,824 (GRCm39) Y44H probably damaging Het
AI429214 A G 8: 37,461,596 (GRCm39) D248G probably damaging Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
AY358078 A G 14: 52,043,010 (GRCm39) T233A unknown Het
Calcr T C 6: 3,693,735 (GRCm39) Y353C probably damaging Het
Ccdc34 A G 2: 109,862,773 (GRCm39) K193E possibly damaging Het
Dhcr24 A G 4: 106,431,070 (GRCm39) E253G probably benign Het
Dnah6 A G 6: 73,104,910 (GRCm39) V1841A possibly damaging Het
Dpp10 A T 1: 123,413,653 (GRCm39) Y186* probably null Het
Dpysl4 C T 7: 138,680,851 (GRCm39) T575M probably damaging Het
Dusp7 T A 9: 106,251,092 (GRCm39) S406T probably benign Het
Gga3 T A 11: 115,478,368 (GRCm39) T475S probably benign Het
Gm10271 T A 10: 116,792,779 (GRCm39) K36* probably null Het
Gm572 G A 4: 148,753,329 (GRCm39) E325K possibly damaging Het
Golga2 A G 2: 32,195,623 (GRCm39) E806G probably benign Het
Igf1 A T 10: 87,751,181 (GRCm39) K126* probably null Het
Itpkc A T 7: 26,927,037 (GRCm39) N292K probably benign Het
Klhl1 A T 14: 96,517,641 (GRCm39) M345K probably benign Het
Lrp2 A G 2: 69,367,909 (GRCm39) V201A probably damaging Het
Lrrc8a C T 2: 30,151,972 (GRCm39) T757M probably benign Het
Mios T A 6: 8,216,453 (GRCm39) I459K probably benign Het
Ms4a4c T A 19: 11,393,759 (GRCm39) S68T probably benign Het
Mstn C T 1: 53,101,130 (GRCm39) T69I possibly damaging Het
Myo10 A G 15: 25,779,712 (GRCm39) K28E probably damaging Het
Nol6 A G 4: 41,117,452 (GRCm39) S914P probably damaging Het
Ntn1 C G 11: 68,276,619 (GRCm39) D110H probably damaging Het
Or51f1e T C 7: 102,747,391 (GRCm39) S148P probably damaging Het
Or52b4 C A 7: 102,184,487 (GRCm39) H178N probably benign Het
Pcdh17 C T 14: 84,684,699 (GRCm39) Q389* probably null Het
Pik3r2 G A 8: 71,223,065 (GRCm39) R452C probably benign Het
Prr14l T C 5: 32,987,689 (GRCm39) E602G probably damaging Het
Rusc2 C A 4: 43,416,424 (GRCm39) Q577K probably benign Het
Sacm1l T A 9: 123,416,641 (GRCm39) M534K probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slco4a1 C T 2: 180,105,884 (GRCm39) T22M probably benign Het
Tas2r104 A T 6: 131,661,888 (GRCm39) C274S probably benign Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Trim43c T A 9: 88,722,454 (GRCm39) H33Q probably damaging Het
Ttc17 A T 2: 94,199,758 (GRCm39) I411K possibly damaging Het
Ttn G T 2: 76,581,678 (GRCm39) L23072I possibly damaging Het
Ttn A C 2: 76,785,368 (GRCm39) V669G possibly damaging Het
Vmn1r60 A T 7: 5,548,026 (GRCm39) F25I possibly damaging Het
Vmn2r9 A G 5: 108,995,997 (GRCm39) I217T probably damaging Het
Other mutations in Mrps11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02642:Mrps11 APN 7 78,438,522 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- AAGTGGTTCCTTCGGGTGAC -3'
(R):5'- CTGGTTTAATGAGACTTCCCCAC -3'

Sequencing Primer
(F):5'- CTGTTGGGTGACGCTCTCC -3'
(R):5'- TTAATGAGACTTCCCCACTGTAAGC -3'
Posted On 2015-04-06