Incidental Mutation 'R2200:Mrpl35'
ID 238604
Institutional Source Beutler Lab
Gene Symbol Mrpl35
Ensembl Gene ENSMUSG00000052962
Gene Name mitochondrial ribosomal protein L35
Synonyms 1110066C01Rik
MMRRC Submission 040202-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R2200 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 71789981-71800768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 71794723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 82 (L82V)
Ref Sequence ENSEMBL: ENSMUSP00000066493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065103] [ENSMUST00000205435]
AlphaFold Q9CQL6
Predicted Effect probably benign
Transcript: ENSMUST00000065103
AA Change: L82V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000066493
Gene: ENSMUSG00000052962
AA Change: L82V

DomainStartEndE-ValueType
Pfam:Ribosomal_L35p 102 162 1.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205435
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205758
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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 39S subunit protein. Sequence analysis identified three transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p, 10q, and Xp. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer1 T C 17: 57,265,423 (GRCm39) I135M probably benign Het
Ano7 A G 1: 93,308,158 (GRCm39) E63G possibly damaging Het
Asah1 A G 8: 41,796,765 (GRCm39) probably null Het
B3gat2 C T 1: 23,801,873 (GRCm39) P53L probably benign Het
Bmp8b A T 4: 123,016,815 (GRCm39) M339L possibly damaging Het
Bpifb9b C A 2: 154,155,574 (GRCm39) Q358K probably benign Het
Cbs T C 17: 31,843,238 (GRCm39) D231G probably damaging Het
Chd6 A G 2: 160,825,673 (GRCm39) Y1144H probably damaging Het
Clca3a2 T A 3: 144,519,685 (GRCm39) I230L probably benign Het
Clec2d A T 6: 129,161,831 (GRCm39) T155S possibly damaging Het
Cpxm1 G T 2: 130,235,117 (GRCm39) F567L probably damaging Het
Cyp4f16 G T 17: 32,756,078 (GRCm39) A36S probably damaging Het
Dnah17 T C 11: 117,993,235 (GRCm39) probably benign Het
Eml5 T C 12: 98,791,676 (GRCm39) D1280G probably damaging Het
Ergic1 C A 17: 26,860,566 (GRCm39) A218D possibly damaging Het
Eva1a A G 6: 82,068,894 (GRCm39) R74G probably benign Het
Fhip1a A G 3: 85,637,628 (GRCm39) S224P probably damaging Het
Fus T A 7: 127,576,400 (GRCm39) N273K probably damaging Het
Ipo13 A C 4: 117,762,100 (GRCm39) probably null Het
Itgb3 T A 11: 104,531,812 (GRCm39) probably null Het
Lrif1 T A 3: 106,641,874 (GRCm39) S63R probably damaging Het
Lrig3 A G 10: 125,832,478 (GRCm39) probably null Het
Lrp1b A T 2: 41,174,177 (GRCm39) N1547K probably benign Het
Mme A T 3: 63,287,713 (GRCm39) N738I possibly damaging Het
Morc2a A G 11: 3,633,919 (GRCm39) N677S probably benign Het
Mybpc1 A T 10: 88,391,557 (GRCm39) N313K probably damaging Het
Podn T C 4: 107,879,787 (GRCm39) D66G probably damaging Het
Ptpru A T 4: 131,548,124 (GRCm39) N52K probably damaging Het
Pyroxd1 G T 6: 142,304,808 (GRCm39) R345L probably benign Het
Qser1 A G 2: 104,619,358 (GRCm39) S485P probably damaging Het
Rbm46 A T 3: 82,771,351 (GRCm39) D421E probably benign Het
Rgs10 T C 7: 127,990,761 (GRCm39) E109G probably damaging Het
Samd8 C T 14: 21,825,388 (GRCm39) P178S probably benign Het
Scaf11 T C 15: 96,318,404 (GRCm39) K387E probably damaging Het
Sccpdh G T 1: 179,498,171 (GRCm39) V72F possibly damaging Het
Sec22a A T 16: 35,134,527 (GRCm39) V285E probably damaging Het
Slc19a3 A G 1: 83,000,664 (GRCm39) S118P probably damaging Het
Sun1 C A 5: 139,216,974 (GRCm39) R338S probably benign Het
Taf1c A G 8: 120,325,417 (GRCm39) F815S probably benign Het
Zcchc14 A T 8: 122,332,167 (GRCm39) probably benign Het
Other mutations in Mrpl35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02811:Mrpl35 APN 6 71,795,804 (GRCm39) missense probably benign 0.02
IGL03117:Mrpl35 APN 6 71,793,263 (GRCm39) nonsense probably null
R5620:Mrpl35 UTSW 6 71,794,720 (GRCm39) missense probably benign
R6228:Mrpl35 UTSW 6 71,800,661 (GRCm39) intron probably benign
R7210:Mrpl35 UTSW 6 71,794,722 (GRCm39) missense possibly damaging 0.63
R8421:Mrpl35 UTSW 6 71,793,151 (GRCm39) missense probably damaging 1.00
R8550:Mrpl35 UTSW 6 71,793,259 (GRCm39) missense probably damaging 1.00
R8888:Mrpl35 UTSW 6 71,793,271 (GRCm39) missense possibly damaging 0.90
R8895:Mrpl35 UTSW 6 71,793,271 (GRCm39) missense possibly damaging 0.90
R9665:Mrpl35 UTSW 6 71,795,704 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGAGTGCACACCATGGCTAG -3'
(R):5'- TCTCTCTTAATGGTCAAGTGGG -3'

Sequencing Primer
(F):5'- ACACCATGGCTAGGCTCACG -3'
(R):5'- TGACCCTAAAGTCTTGTATGTGC -3'
Posted On 2014-10-02