Incidental Mutation 'R6796:Rpl34'
ID 533000
Institutional Source Beutler Lab
Gene Symbol Rpl34
Ensembl Gene ENSMUSG00000062006
Gene Name ribosomal protein L34
Synonyms 1100001I22Rik
MMRRC Submission 044909-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.929) question?
Stock # R6796 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 130520480-130524047 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 130522926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 6 (T6K)
Ref Sequence ENSEMBL: ENSMUSP00000142486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062601] [ENSMUST00000079085] [ENSMUST00000133802] [ENSMUST00000196202] [ENSMUST00000200517]
AlphaFold Q9D1R9
Predicted Effect probably damaging
Transcript: ENSMUST00000062601
AA Change: T6K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086614
Gene: ENSMUSG00000062006
AA Change: T6K

DomainStartEndE-ValueType
Pfam:Ribosomal_L34e 1 96 2.9e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000079085
AA Change: T6K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078092
Gene: ENSMUSG00000062006
AA Change: T6K

DomainStartEndE-ValueType
Pfam:Ribosomal_L34e 1 96 2.9e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133802
AA Change: T6K

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000142951
Gene: ENSMUSG00000062006
AA Change: T6K

DomainStartEndE-ValueType
Pfam:Ribosomal_L34e 1 90 3.2e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196202
AA Change: T6K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142486
Gene: ENSMUSG00000062006
AA Change: T6K

DomainStartEndE-ValueType
Pfam:Ribosomal_L34e 1 96 2.9e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200517
AA Change: T6K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000143752
Gene: ENSMUSG00000062006
AA Change: T6K

DomainStartEndE-ValueType
Pfam:Ribosomal_L34e 1 60 3.6e-23 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,620,597 (GRCm39) V3950A probably damaging Het
App A G 16: 84,917,455 (GRCm39) I63T probably damaging Het
Bpifb4 A T 2: 153,803,467 (GRCm39) K381N probably damaging Het
Cdc45 C T 16: 18,603,607 (GRCm39) A529T probably damaging Het
Cdh18 T A 15: 23,446,159 (GRCm39) N536K probably damaging Het
Dpy19l1 C A 9: 24,414,158 (GRCm39) R90L possibly damaging Het
E2f3 A G 13: 30,102,568 (GRCm39) V231A possibly damaging Het
F930015N05Rik A T 11: 64,326,229 (GRCm39) probably benign Het
Fcer2a T C 8: 3,739,830 (GRCm39) H47R possibly damaging Het
Hcar2 A G 5: 124,003,330 (GRCm39) S58P probably benign Het
Hivep3 A G 4: 119,953,558 (GRCm39) T625A possibly damaging Het
Insrr C T 3: 87,720,873 (GRCm39) R1044C probably damaging Het
Itgax C T 7: 127,734,236 (GRCm39) A336V probably damaging Het
Lin37 A T 7: 30,256,341 (GRCm39) V140E probably damaging Het
Malrd1 T A 2: 15,874,595 (GRCm39) I1341K unknown Het
Map4k5 T C 12: 69,864,799 (GRCm39) I561V probably benign Het
Mcc A G 18: 44,857,627 (GRCm39) S163P probably benign Het
Nlrp12 T C 7: 3,290,039 (GRCm39) T158A probably damaging Het
Or5an6 A T 19: 12,372,292 (GRCm39) I222F probably damaging Het
Or5b119 A G 19: 13,457,278 (GRCm39) C95R probably damaging Het
Paqr5 C T 9: 61,871,065 (GRCm39) R171Q probably damaging Het
Pax8 A T 2: 24,331,098 (GRCm39) M200K probably benign Het
Plcd4 T C 1: 74,601,229 (GRCm39) S498P probably benign Het
Poglut1 T C 16: 38,349,972 (GRCm39) Y267C probably damaging Het
Pom121l2 T C 13: 22,167,694 (GRCm39) I655T probably benign Het
Proca1 G T 11: 78,085,754 (GRCm39) R19L probably benign Het
Prr30 A G 14: 101,436,380 (GRCm39) S61P probably benign Het
Ranbp17 T C 11: 33,167,398 (GRCm39) S1022G probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpgrip1 A G 14: 52,387,469 (GRCm39) H1037R probably damaging Het
Scaper T C 9: 55,771,711 (GRCm39) T402A probably benign Het
Selenow A T 7: 15,653,996 (GRCm39) V52E probably damaging Het
Septin14 T A 5: 129,774,822 (GRCm39) I118L probably benign Het
Sis A T 3: 72,872,951 (GRCm39) N62K probably benign Het
Sit1 A T 4: 43,482,761 (GRCm39) C133S probably benign Het
Susd3 ACC AC 13: 49,391,041 (GRCm39) probably null Het
Svep1 A G 4: 58,064,275 (GRCm39) V3236A probably benign Het
Taf12 G A 4: 132,016,725 (GRCm39) V168I possibly damaging Het
Tas2r139 A T 6: 42,118,526 (GRCm39) R219S probably damaging Het
Tmc1 A T 19: 20,776,400 (GRCm39) V653D probably damaging Het
Utp23 T A 15: 51,741,007 (GRCm39) L30Q probably damaging Het
Other mutations in Rpl34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02476:Rpl34 APN 3 130,520,613 (GRCm39) unclassified probably benign
R6192:Rpl34 UTSW 3 130,522,716 (GRCm39) missense probably benign 0.01
R6516:Rpl34 UTSW 3 130,522,716 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CACGCCACATGCAGATTTAG -3'
(R):5'- TTAGAGCCCAGGAGCTCTTCATC -3'

Sequencing Primer
(F):5'- ATGCAGATTTAGGTGCTTTCCCAAC -3'
(R):5'- GCCCAGGAGCTCTTCATCTCTAG -3'
Posted On 2018-08-29