Incidental Mutation 'R7113:Rpl35'
ID 551603
Institutional Source Beutler Lab
Gene Symbol Rpl35
Ensembl Gene ENSMUSG00000062997
Gene Name ribosomal protein L35
Synonyms 2410039E09Rik
MMRRC Submission 045205-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R7113 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 38891593-38895143 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 38894168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 58 (L58R)
Ref Sequence ENSEMBL: ENSMUSP00000079672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039535] [ENSMUST00000080861] [ENSMUST00000090993] [ENSMUST00000112862] [ENSMUST00000112872]
AlphaFold Q6ZWV7
Predicted Effect probably benign
Transcript: ENSMUST00000039535
SMART Domains Protein: ENSMUSP00000043834
Gene: ENSMUSG00000035295

DomainStartEndE-ValueType
WD40 15 54 9.67e-7 SMART
WD40 57 96 9.22e-13 SMART
WD40 99 138 4.4e-10 SMART
WD40 141 180 1.21e-7 SMART
WD40 186 224 9.97e-9 SMART
WD40 227 266 4.34e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000080861
AA Change: L58R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079672
Gene: ENSMUSG00000062997
AA Change: L58R

DomainStartEndE-ValueType
Pfam:Ribosomal_L29 7 63 2.7e-22 PFAM
low complexity region 95 108 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090993
SMART Domains Protein: ENSMUSP00000088516
Gene: ENSMUSG00000026755

DomainStartEndE-ValueType
Pfam:P16-Arc 8 153 4.6e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112862
SMART Domains Protein: ENSMUSP00000108483
Gene: ENSMUSG00000026755

DomainStartEndE-ValueType
Pfam:P16-Arc 9 153 2.4e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112872
SMART Domains Protein: ENSMUSP00000108493
Gene: ENSMUSG00000035295

DomainStartEndE-ValueType
WD40 15 54 9.67e-7 SMART
WD40 57 96 9.22e-13 SMART
WD40 99 138 4.4e-10 SMART
WD40 141 180 1.21e-7 SMART
WD40 186 224 9.97e-9 SMART
WD40 227 266 4.34e-9 SMART
Meta Mutation Damage Score 0.9312 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 95% (53/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T C 13: 104,449,267 (GRCm39) S226P probably benign Het
Adarb2 T C 13: 8,781,881 (GRCm39) Y586H probably damaging Het
Ano7 A T 1: 93,313,342 (GRCm39) E160V probably benign Het
Apob G C 12: 8,045,539 (GRCm39) A895P probably damaging Het
Ccdc157 T C 11: 4,098,889 (GRCm39) T206A possibly damaging Het
Ceacam18 A G 7: 43,291,400 (GRCm39) N281D probably benign Het
Chil4 T C 3: 106,110,083 (GRCm39) D337G probably damaging Het
Chil4 T G 3: 106,121,664 (GRCm39) K62Q probably benign Het
Cic A T 7: 24,972,869 (GRCm39) I867F probably benign Het
Cntln A G 4: 84,968,064 (GRCm39) E761G probably damaging Het
Cyp2d26 T A 15: 82,674,403 (GRCm39) Y493F probably benign Het
Dync2h1 A T 9: 7,075,788 (GRCm39) F3026L probably benign Het
Ehd3 T A 17: 74,137,179 (GRCm39) D449E probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Herc2 T G 7: 55,853,597 (GRCm39) D3696E probably damaging Het
Hivep3 T A 4: 119,955,566 (GRCm39) I1294N probably damaging Het
Il19 T C 1: 130,862,732 (GRCm39) I139V probably benign Het
Jmjd1c T A 10: 66,993,780 (GRCm39) I87N probably damaging Het
Kcnma1 A G 14: 23,513,224 (GRCm39) Y392H probably damaging Het
Kcnv2 T C 19: 27,301,448 (GRCm39) L433P probably damaging Het
Kif9 A T 9: 110,335,732 (GRCm39) N378Y probably damaging Het
Lonrf1 A T 8: 36,697,664 (GRCm39) V440E probably benign Het
Lrrc37 A G 11: 103,509,625 (GRCm39) I781T unknown Het
Manea A T 4: 26,336,718 (GRCm39) L186Q probably damaging Het
Mas1 A G 17: 13,061,324 (GRCm39) I33T probably benign Het
Med13l A G 5: 118,864,330 (GRCm39) S389G probably benign Het
Nxph3 T C 11: 95,401,892 (GRCm39) N174S possibly damaging Het
Or1l4 T A 2: 37,091,568 (GRCm39) F105Y possibly damaging Het
Or8g52 G C 9: 39,630,973 (GRCm39) C150S probably benign Het
Pcdha5 A G 18: 37,094,757 (GRCm39) D422G probably benign Het
Pias4 A C 10: 80,990,287 (GRCm39) V416G possibly damaging Het
Pik3cg T A 12: 32,255,666 (GRCm39) Y107F probably damaging Het
Plcg1 T A 2: 160,590,203 (GRCm39) W156R possibly damaging Het
Plcl2 A G 17: 50,913,492 (GRCm39) D167G probably damaging Het
Podxl T A 6: 31,501,668 (GRCm39) probably null Het
Ppp1r2 T C 16: 31,073,536 (GRCm39) D197G probably benign Het
Ptprs C G 17: 56,758,697 (GRCm39) V175L probably benign Het
Rad17 A T 13: 100,766,025 (GRCm39) S368T probably benign Het
Rdh8 G T 9: 20,736,623 (GRCm39) R230L probably benign Het
Rtp3 A C 9: 110,815,767 (GRCm39) C199W probably damaging Het
S100pbp G A 4: 129,075,896 (GRCm39) T143I probably damaging Het
Scarf1 A G 11: 75,416,904 (GRCm39) E782G probably damaging Het
Slc30a9 T C 5: 67,484,205 (GRCm39) V114A probably benign Het
Speer1c G A 5: 10,292,977 (GRCm39) P189S Het
Stpg2 G A 3: 139,407,535 (GRCm39) probably null Het
Tdpoz1 T C 3: 93,578,113 (GRCm39) S224G possibly damaging Het
Triml2 T A 8: 43,636,370 (GRCm39) Y52N probably benign Het
Trpm2 A T 10: 77,783,765 (GRCm39) I236N probably damaging Het
Unc5c A G 3: 141,507,054 (GRCm39) D602G probably benign Het
Upk1a A G 7: 30,309,236 (GRCm39) S29P probably damaging Het
Vmn2r54 A G 7: 12,350,001 (GRCm39) L527P probably damaging Het
Vmn2r72 A T 7: 85,399,011 (GRCm39) probably null Het
Vstm2l G T 2: 157,756,649 (GRCm39) probably benign Het
Vwf G T 6: 125,632,007 (GRCm39) G1952V Het
Zfand6 A C 7: 84,265,077 (GRCm39) I208S probably damaging Het
Zfp236 A G 18: 82,638,462 (GRCm39) I1386T possibly damaging Het
Other mutations in Rpl35
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2064:Rpl35 UTSW 2 38,894,753 (GRCm39) missense possibly damaging 0.88
R6011:Rpl35 UTSW 2 38,894,813 (GRCm39) splice site probably null
R6334:Rpl35 UTSW 2 38,891,754 (GRCm39) missense possibly damaging 0.59
Predicted Primers PCR Primer
(F):5'- ACTCCTGTCAGTTCGGGAAG -3'
(R):5'- CTTGAAGGCATGGTCTCAGTC -3'

Sequencing Primer
(F):5'- GCTGGTAACTGGGCAAACTC -3'
(R):5'- AAGTTCTTGGGCCAAATCTGC -3'
Posted On 2019-05-15