Incidental Mutation 'R8421:Mrpl35'
ID 653191
Institutional Source Beutler Lab
Gene Symbol Mrpl35
Ensembl Gene ENSMUSG00000052962
Gene Name mitochondrial ribosomal protein L35
Synonyms 1110066C01Rik
MMRRC Submission 067898-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R8421 (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 71793151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 167 (K167E)
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: K167E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066493
Gene: ENSMUSG00000052962
AA Change: K167E

DomainStartEndE-ValueType
Pfam:Ribosomal_L35p 102 162 1.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205435
Meta Mutation Damage Score 0.5694 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 98% (56/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 T C 14: 54,880,486 (GRCm39) E1239G unknown Het
Actn3 T C 19: 4,911,741 (GRCm39) M806V probably benign Het
Adcy7 A G 8: 89,048,812 (GRCm39) T676A probably benign Het
Ankef1 C A 2: 136,379,085 (GRCm39) Q12K probably damaging Het
Ankrd40 G T 11: 94,225,662 (GRCm39) G231V probably damaging Het
Atad5 T A 11: 79,985,384 (GRCm39) V157D probably damaging Het
Atp6v1b1 T A 6: 83,730,791 (GRCm39) M163K probably damaging Het
Atp7b A T 8: 22,518,487 (GRCm39) M117K probably benign Het
Ccdc87 T C 19: 4,891,313 (GRCm39) Y602H possibly damaging Het
Cdh16 C T 8: 105,348,602 (GRCm39) R142K probably benign Het
Chrnb3 G A 8: 27,886,718 (GRCm39) V431I probably damaging Het
Csf1r A G 18: 61,260,966 (GRCm39) D719G probably damaging Het
Ctsll3 A G 13: 60,948,595 (GRCm39) F88S probably damaging Het
Dglucy A G 12: 100,808,938 (GRCm39) Y212C probably damaging Het
Dnase1l3 T C 14: 7,968,122 (GRCm38) D261G possibly damaging Het
Dync2h1 T C 9: 7,102,477 (GRCm39) D2641G probably damaging Het
Fat3 A T 9: 15,909,480 (GRCm39) V2174D probably damaging Het
Gtf3c1 A G 7: 125,298,142 (GRCm39) L244P probably damaging Het
Hcn4 T A 9: 58,765,379 (GRCm39) D620E unknown Het
Ide A G 19: 37,255,403 (GRCm39) V800A Het
Ikbkb A T 8: 23,168,804 (GRCm39) probably null Het
Lin9 T A 1: 180,493,365 (GRCm39) F197Y probably damaging Het
Lrp1b T A 2: 40,615,435 (GRCm39) Y3656F Het
Mapkbp1 C A 2: 119,849,431 (GRCm39) N708K probably damaging Het
Marveld3 A G 8: 110,675,279 (GRCm39) M179T probably benign Het
Mrpl1 C G 5: 96,374,226 (GRCm39) A167G probably benign Het
Myo3a T C 2: 22,366,935 (GRCm39) V594A probably benign Het
Nav2 A G 7: 49,102,269 (GRCm39) T356A probably benign Het
Nup210l A G 3: 90,111,174 (GRCm39) Y1692C probably damaging Het
Or8k22 T A 2: 86,163,247 (GRCm39) Y151F possibly damaging Het
Otoa G A 7: 120,698,491 (GRCm39) probably null Het
Oxnad1 T G 14: 31,821,431 (GRCm39) I172S probably benign Het
Padi4 C A 4: 140,475,533 (GRCm39) C544F probably damaging Het
Pard3 A C 8: 127,867,158 (GRCm39) probably benign Het
Plvap G A 8: 71,964,176 (GRCm39) T62M probably damaging Het
Potefam1 T A 2: 111,048,955 (GRCm39) K275* probably null Het
Prdm8 C T 5: 98,333,822 (GRCm39) A463V probably damaging Het
Prss21 T A 17: 24,088,342 (GRCm39) D102E possibly damaging Het
Psmb10 G T 8: 106,663,342 (GRCm39) Q182K probably benign Het
Rasgrf1 C T 9: 89,849,968 (GRCm39) P319S probably damaging Het
Rock1 G A 18: 10,072,863 (GRCm39) Q1161* probably null Het
Ryr3 T C 2: 112,826,929 (GRCm39) E112G probably benign Het
Samm50 A G 15: 84,094,786 (GRCm39) T393A probably benign Het
Slc9c1 A G 16: 45,413,734 (GRCm39) E954G probably damaging Het
Sulf2 T A 2: 165,958,972 (GRCm39) I79F probably benign Het
Tbx21 T C 11: 97,005,561 (GRCm39) K135E probably benign Het
Ube2q2l T C 6: 136,378,350 (GRCm39) E160G probably damaging Het
Unc13b A G 4: 43,178,304 (GRCm39) E3044G unknown Het
Usf3 A T 16: 44,037,572 (GRCm39) Q684L possibly damaging Het
Vmn1r114 A T 7: 20,545,459 (GRCm39) M218K possibly damaging Het
Vmn1r203 T G 13: 22,709,154 (GRCm39) *312G probably null Het
Vmn2r67 A C 7: 84,785,893 (GRCm39) L704R probably damaging Het
Zfp618 A G 4: 63,051,483 (GRCm39) T755A probably damaging Het
Zp3 A G 5: 136,017,331 (GRCm39) T381A probably benign Het
Zscan20 T C 4: 128,479,620 (GRCm39) D957G probably damaging 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
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'- CTAAGCTTGCCGATCAGCTG -3'
(R):5'- CCAATCTCTGTAGGTCTGGCTTTG -3'

Sequencing Primer
(F):5'- TGGTACAGTTTACAGTTTAACGC -3'
(R):5'- GGCTTTGCTCTTTGGGCCTATATAC -3'
Posted On 2020-10-20