Incidental Mutation 'R8550:Mrpl35'
ID 659819
Institutional Source Beutler Lab
Gene Symbol Mrpl35
Ensembl Gene ENSMUSG00000052962
Gene Name mitochondrial ribosomal protein L35
Synonyms 1110066C01Rik
MMRRC Submission 068515-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R8550 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 71789981-71800768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71793259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 131 (K131E)
Ref Sequence ENSEMBL: ENSMUSP00000066493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065103] [ENSMUST00000205435]
AlphaFold Q9CQL6
Predicted Effect probably damaging
Transcript: ENSMUST00000065103
AA Change: K131E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066493
Gene: ENSMUSG00000052962
AA Change: K131E

DomainStartEndE-ValueType
Pfam:Ribosomal_L35p 102 162 1.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205435
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (39/39)
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
4930402F06Rik T A 2: 35,265,786 (GRCm39) K295* probably null Het
AB124611 A T 9: 21,451,882 (GRCm39) D146V probably damaging Het
Adgrl3 A T 5: 81,942,599 (GRCm39) T1469S possibly damaging Het
Anxa7 G A 14: 20,506,593 (GRCm39) T449M probably damaging Het
Birc6 T G 17: 74,864,949 (GRCm39) S236R probably benign Het
C1qc C T 4: 136,617,587 (GRCm39) V170I possibly damaging Het
Ccl25 A G 8: 4,377,890 (GRCm39) E50G possibly damaging Het
Clk1 A T 1: 58,451,835 (GRCm39) Y427N probably damaging Het
Cul9 C A 17: 46,830,772 (GRCm39) C1707F probably damaging Het
Cyp4f17 G A 17: 32,746,936 (GRCm39) V413I probably benign Het
Ddc A G 11: 11,785,743 (GRCm39) W315R probably damaging Het
Degs1l A T 1: 180,887,324 (GRCm39) D303V probably damaging Het
Eif1ad15 T C 12: 88,290,652 (GRCm39) probably benign Het
Eogt A C 6: 97,089,033 (GRCm39) H524Q probably benign Het
Eya4 G A 10: 22,982,157 (GRCm39) H601Y probably damaging Het
Hexa G A 9: 59,468,182 (GRCm39) A270T probably benign Het
Hmcn2 T C 2: 31,240,654 (GRCm39) probably null Het
Ighv5-17 A T 12: 113,822,904 (GRCm39) S72R possibly damaging Het
Itgad A G 7: 127,803,064 (GRCm39) T7A probably damaging Het
Mapk8 A T 14: 33,124,615 (GRCm39) I139N probably damaging Het
Metap1 G A 3: 138,172,077 (GRCm39) A280V possibly damaging Het
Neb A G 2: 52,188,924 (GRCm39) V802A probably benign Het
Nlrp3 T G 11: 59,440,097 (GRCm39) V558G probably damaging Het
Nr3c1 A T 18: 39,619,842 (GRCm39) N148K possibly damaging Het
Or3a1c A C 11: 74,046,015 (GRCm39) I12L probably benign Het
Padi6 T C 4: 140,460,014 (GRCm39) K359R probably benign Het
Rexo5 A G 7: 119,400,568 (GRCm39) T118A probably benign Het
Serpine1 A G 5: 137,092,352 (GRCm39) V385A probably damaging Het
Slc25a25 A G 2: 32,306,205 (GRCm39) I485T probably damaging Het
Slc26a3 A T 12: 31,511,739 (GRCm39) L441F probably damaging Het
Spta1 A T 1: 174,014,774 (GRCm39) D418V probably damaging Het
Supt20 T C 3: 54,623,063 (GRCm39) V511A possibly damaging Het
Tfap2a T C 13: 40,882,225 (GRCm39) T21A probably damaging Het
Tia1 A G 6: 86,402,684 (GRCm39) M232V probably benign Het
Tmem132a T C 19: 10,837,745 (GRCm39) T522A probably benign Het
Top2a A T 11: 98,886,744 (GRCm39) D1336E probably benign Het
Trav3-1 A C 14: 52,818,390 (GRCm39) R21S probably benign Het
Utrn C A 10: 12,689,329 (GRCm39) probably benign Het
Vmn1r119 A T 7: 20,745,980 (GRCm39) V134D probably benign Het
Zfta T C 19: 7,400,320 (GRCm39) M262T 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
R2200:Mrpl35 UTSW 6 71,794,723 (GRCm39) missense probably benign 0.03
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
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'- CTATACTCGTAGGTTTGTTCGATCG -3'
(R):5'- GCTCTGCAGTCTGTGTTCA -3'

Sequencing Primer
(F):5'- CGATCGTGGTACATCTGGTAAGGATC -3'
(R):5'- ATGGATAGTTGTAAGCCACCTG -3'
Posted On 2021-01-18