Incidental Mutation 'IGL02819:Rpl6'
ID 360934
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpl6
Ensembl Gene ENSMUSG00000029614
Gene Name ribosomal protein L6
Synonyms Taxreb107
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # IGL02819
Quality Score
Status
Chromosome 5
Chromosomal Location 121342564-121347304 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 121345264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031617] [ENSMUST00000201155]
AlphaFold P47911
Predicted Effect probably benign
Transcript: ENSMUST00000031617
SMART Domains Protein: ENSMUSP00000031617
Gene: ENSMUSG00000029614

DomainStartEndE-ValueType
Pfam:Ribosomal_L6e_N 43 103 4.5e-36 PFAM
Pfam:Ribosomal_L6e 189 296 2.7e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082907
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140515
Predicted Effect probably benign
Transcript: ENSMUST00000201155
SMART Domains Protein: ENSMUSP00000143981
Gene: ENSMUSG00000029614

DomainStartEndE-ValueType
Blast:Zn_pept 1 33 7e-11 BLAST
PDB:3J39|E 2 45 3e-13 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146579
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik C T 13: 54,712,033 (GRCm39) probably benign Het
Abcb8 T A 5: 24,611,422 (GRCm39) N470K probably benign Het
Adamtsl3 A T 7: 82,223,329 (GRCm39) N1037Y probably damaging Het
Adcy3 T C 12: 4,256,986 (GRCm39) probably benign Het
Ankrd35 A G 3: 96,597,524 (GRCm39) D983G possibly damaging Het
Asf1a A G 10: 53,483,920 (GRCm39) T118A probably benign Het
Atp2a3 T C 11: 72,868,033 (GRCm39) Y389H probably damaging Het
Atp5f1b T C 10: 127,919,821 (GRCm39) I63T probably damaging Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Caprin2 A G 6: 148,749,756 (GRCm39) V518A probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clcn2 C A 16: 20,528,006 (GRCm39) E487* probably null Het
Cog6 T A 3: 52,916,966 (GRCm39) K184M probably damaging Het
Cpn1 A G 19: 43,956,907 (GRCm39) Y286H probably damaging Het
Cpne9 A T 6: 113,277,624 (GRCm39) S448C probably damaging Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Cys1 T C 12: 24,717,169 (GRCm39) E132G possibly damaging Het
Depdc7 T C 2: 104,555,071 (GRCm39) M280V probably benign Het
Fhad1 C T 4: 141,646,069 (GRCm39) D298N probably benign Het
Golga1 T A 2: 38,929,090 (GRCm39) N318Y probably null Het
Hsd3b6 A G 3: 98,718,262 (GRCm39) V34A probably benign Het
Krt9 A G 11: 100,082,346 (GRCm39) I193T probably damaging Het
Lama4 A T 10: 38,902,565 (GRCm39) I180F possibly damaging Het
Lamc1 T C 1: 153,126,407 (GRCm39) T458A probably damaging Het
Lin28b A T 10: 45,346,155 (GRCm39) M1K probably null Het
Myo16 T C 8: 10,372,600 (GRCm39) C100R probably damaging Het
Nt5c3 A T 6: 56,860,718 (GRCm39) M279K probably damaging Het
Ppfia2 A G 10: 106,742,255 (GRCm39) Y1016C probably damaging Het
Rpn2 G T 2: 157,158,130 (GRCm39) probably null Het
Rspry1 T C 8: 95,380,884 (GRCm39) V396A probably benign Het
Serpina3i C T 12: 104,234,761 (GRCm39) T364I probably damaging Het
Shprh A G 10: 11,030,509 (GRCm39) K242R possibly damaging Het
Slit3 A G 11: 35,062,417 (GRCm39) N72S possibly damaging Het
Syt17 G A 7: 118,009,143 (GRCm39) probably benign Het
Tatdn3 C A 1: 190,787,541 (GRCm39) A114S probably benign Het
Tjp2 A G 19: 24,091,469 (GRCm39) V564A probably damaging Het
Tmem117 T C 15: 94,777,253 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 144,995,703 (GRCm39) E452G probably damaging Het
Tns1 T C 1: 73,976,407 (GRCm39) D1147G probably damaging Het
Traf6 T C 2: 101,515,134 (GRCm39) S97P probably damaging Het
Ttc28 A T 5: 111,414,449 (GRCm39) E1321D probably benign Het
Other mutations in Rpl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0095:Rpl6 UTSW 5 121,343,902 (GRCm39) missense possibly damaging 0.62
R0095:Rpl6 UTSW 5 121,343,902 (GRCm39) missense possibly damaging 0.62
R0197:Rpl6 UTSW 5 121,346,541 (GRCm39) missense probably benign 0.18
R0346:Rpl6 UTSW 5 121,346,554 (GRCm39) missense possibly damaging 0.52
R0883:Rpl6 UTSW 5 121,346,541 (GRCm39) missense probably benign 0.18
R0972:Rpl6 UTSW 5 121,346,565 (GRCm39) missense possibly damaging 0.75
R6005:Rpl6 UTSW 5 121,343,577 (GRCm39) unclassified probably benign
R6278:Rpl6 UTSW 5 121,346,912 (GRCm39) missense possibly damaging 0.94
R7021:Rpl6 UTSW 5 121,346,972 (GRCm39) missense probably benign 0.35
R7426:Rpl6 UTSW 5 121,343,655 (GRCm39) missense possibly damaging 0.69
R7488:Rpl6 UTSW 5 121,346,591 (GRCm39) missense probably benign 0.01
R9305:Rpl6 UTSW 5 121,346,516 (GRCm39) missense possibly damaging 0.81
Z1177:Rpl6 UTSW 5 121,344,860 (GRCm39) missense probably benign 0.01
Posted On 2015-12-18