Incidental Mutation 'IGL02422:Rpl3l'
ID292711
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpl3l
Ensembl Gene ENSMUSG00000002500
Gene Nameribosomal protein L3-like
Synonyms1110057H16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.165) question?
Stock #IGL02422
Quality Score
Status
Chromosome17
Chromosomal Location24727820-24736143 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 24733988 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 307 (Y307*)
Ref Sequence ENSEMBL: ENSMUSP00000129325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045186] [ENSMUST00000101800] [ENSMUST00000115262] [ENSMUST00000170239] [ENSMUST00000183214]
Predicted Effect probably null
Transcript: ENSMUST00000045186
AA Change: Y140*
SMART Domains Protein: ENSMUSP00000038326
Gene: ENSMUSG00000002500
AA Change: Y140*

DomainStartEndE-ValueType
Pfam:Ribosomal_L3 1 181 5.1e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101800
SMART Domains Protein: ENSMUSP00000099300
Gene: ENSMUSG00000075705

DomainStartEndE-ValueType
Pfam:SelR 5 105 9.7e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115262
SMART Domains Protein: ENSMUSP00000110917
Gene: ENSMUSG00000075705

DomainStartEndE-ValueType
Pfam:SelR 7 106 6.9e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000170239
AA Change: Y307*
SMART Domains Protein: ENSMUSP00000129325
Gene: ENSMUSG00000002500
AA Change: Y307*

DomainStartEndE-ValueType
Pfam:Ribosomal_L3 1 375 1.2e-178 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183214
SMART Domains Protein: ENSMUSP00000138489
Gene: ENSMUSG00000002500

DomainStartEndE-ValueType
Pfam:Ribosomal_L3 1 133 1.1e-43 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of expression, with the highest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019M22Rik T C 12: 96,047,047 noncoding transcript Het
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Aak1 A T 6: 86,982,616 T846S unknown Het
Adgrl1 A G 8: 83,937,486 D1149G probably damaging Het
AI661453 C T 17: 47,467,092 probably benign Het
Ap4b1 T C 3: 103,812,854 V139A possibly damaging Het
Arhgef16 G A 4: 154,287,065 R224* probably null Het
Ash1l T A 3: 89,069,079 probably null Het
Atm A T 9: 53,500,792 V988D probably damaging Het
C3 T C 17: 57,226,823 E47G probably damaging Het
Cdkn2aip G A 8: 47,711,499 S393L probably damaging Het
Cyp2c68 A C 19: 39,734,452 N217K probably damaging Het
Dapp1 A T 3: 137,961,499 S101T probably benign Het
Ddx25 T C 9: 35,551,364 I242V probably null Het
Dpy19l4 T C 4: 11,265,803 N715S possibly damaging Het
Dync1h1 A G 12: 110,640,210 E2511G possibly damaging Het
Fopnl T G 16: 14,300,206 D150A probably benign Het
Gm9839 T A 1: 32,519,862 probably benign Het
Grn A G 11: 102,436,258 probably benign Het
Haus5 T C 7: 30,660,146 T196A possibly damaging Het
Ik A G 18: 36,753,260 probably null Het
Inpp5d T G 1: 87,708,132 F473C probably damaging Het
Kif19a C A 11: 114,789,361 S841R probably damaging Het
Lipn G A 19: 34,068,663 C12Y probably benign Het
Ltbp4 G T 7: 27,319,672 P1074Q probably damaging Het
Mfap2 T C 4: 141,014,224 S65P probably benign Het
Mtbp T C 15: 55,563,043 F127S possibly damaging Het
Olfr1084 A G 2: 86,639,216 F164S probably damaging Het
Pappa2 T C 1: 158,936,933 D336G probably damaging Het
Plekhh2 A G 17: 84,563,809 probably benign Het
Plekhm3 A T 1: 64,921,866 C410* probably null Het
Ppm1f T A 16: 16,917,716 H265Q probably damaging Het
Pramef25 T A 4: 143,949,883 Y217F probably benign Het
Rasal3 T C 17: 32,398,973 T207A probably benign Het
Rnf17 T A 14: 56,482,135 N947K probably damaging Het
Sema4d A G 13: 51,703,088 S703P probably benign Het
Slc12a7 T C 13: 73,806,161 M857T probably benign Het
Slc34a3 T C 2: 25,232,263 D110G probably benign Het
Spata32 A T 11: 103,208,880 N266K probably benign Het
Spata9 A G 13: 75,993,074 I147V probably benign Het
Supt16 T C 14: 52,179,543 Y326C possibly damaging Het
Tpx2 T C 2: 152,873,144 I95T probably benign Het
Usp17ld T A 7: 103,250,760 M322L probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Other mutations in Rpl3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00984:Rpl3l APN 17 24735471 missense probably damaging 0.96
IGL01364:Rpl3l APN 17 24732430 missense probably benign 0.07
IGL02009:Rpl3l APN 17 24732433 missense probably damaging 0.98
IGL03309:Rpl3l APN 17 24736024 missense possibly damaging 0.64
R1466:Rpl3l UTSW 17 24730871 missense probably benign
R1466:Rpl3l UTSW 17 24730871 missense probably benign
R1782:Rpl3l UTSW 17 24733456 missense probably benign 0.02
R2019:Rpl3l UTSW 17 24735516 unclassified probably benign
R2509:Rpl3l UTSW 17 24732386 missense possibly damaging 0.94
R3844:Rpl3l UTSW 17 24733942 missense probably benign 0.02
R4574:Rpl3l UTSW 17 24734010 missense possibly damaging 0.70
R4675:Rpl3l UTSW 17 24733610 missense probably benign 0.43
R5097:Rpl3l UTSW 17 24733461 missense probably damaging 1.00
R5106:Rpl3l UTSW 17 24732437 missense probably damaging 1.00
R5187:Rpl3l UTSW 17 24732455 missense possibly damaging 0.95
R6073:Rpl3l UTSW 17 24730887 missense probably benign
R6295:Rpl3l UTSW 17 24733992 missense probably benign
Posted On2015-04-16