Incidental Mutation 'IGL00088:Rpl13a'
ID1494
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpl13a
Ensembl Gene ENSMUSG00000074129
Gene Nameribosomal protein L13A
SynonymsTstap198-7, tum-transplantation antigen P198, tum-antigen, 1810026N22Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.941) question?
Stock #IGL00088
Quality Score
Status
Chromosome7
Chromosomal Location45125558-45128761 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to A at 45127071 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003521] [ENSMUST00000146760] [ENSMUST00000150350] [ENSMUST00000209212] [ENSMUST00000209238] [ENSMUST00000209467] [ENSMUST00000209711] [ENSMUST00000209812] [ENSMUST00000209815] [ENSMUST00000209927] [ENSMUST00000210191] [ENSMUST00000210818] [ENSMUST00000210918] [ENSMUST00000210931] [ENSMUST00000210967] [ENSMUST00000211037] [ENSMUST00000211429] [ENSMUST00000211725]
Predicted Effect probably null
Transcript: ENSMUST00000003521
SMART Domains Protein: ENSMUSP00000003521
Gene: ENSMUSG00000003429

DomainStartEndE-ValueType
Pfam:Ribosomal_S17_N 5 73 1.9e-40 PFAM
Pfam:Ribosomal_S17 75 144 1.4e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083694
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083944
Predicted Effect possibly damaging
Transcript: ENSMUST00000124300
AA Change: R279L

PolyPhen 2 Score 0.590 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122044
Gene: ENSMUSG00000074129
AA Change: R279L

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Flt3_lig 30 162 3.8e-65 PFAM
transmembrane domain 189 211 N/A INTRINSIC
Pfam:Ribosomal_L13 226 338 1e-10 PFAM
low complexity region 389 400 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146760
SMART Domains Protein: ENSMUSP00000123506
Gene: ENSMUSG00000110206

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Flt3_lig 28 162 1.9e-94 PFAM
transmembrane domain 189 211 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150350
AA Change: R59L

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115722
Gene: ENSMUSG00000074129
AA Change: R59L

DomainStartEndE-ValueType
Pfam:Ribosomal_L13 6 122 7e-27 PFAM
low complexity region 169 180 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198528
Predicted Effect possibly damaging
Transcript: ENSMUST00000209212
AA Change: R55L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000209238
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209340
Predicted Effect probably damaging
Transcript: ENSMUST00000209467
AA Change: R302L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209626
Predicted Effect probably benign
Transcript: ENSMUST00000209711
Predicted Effect silent
Transcript: ENSMUST00000209812
Predicted Effect possibly damaging
Transcript: ENSMUST00000209815
AA Change: R55L

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably null
Transcript: ENSMUST00000209838
Predicted Effect possibly damaging
Transcript: ENSMUST00000209927
AA Change: R33L

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210073
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210134
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210175
Predicted Effect probably damaging
Transcript: ENSMUST00000210191
AA Change: R59L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210792
Predicted Effect probably benign
Transcript: ENSMUST00000210818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210832
Predicted Effect possibly damaging
Transcript: ENSMUST00000210918
AA Change: R59L

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000210931
Predicted Effect probably damaging
Transcript: ENSMUST00000210967
AA Change: R59L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211037
AA Change: R55L

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000211429
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211438
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211494
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211542
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211583
Predicted Effect probably null
Transcript: ENSMUST00000211725
Coding Region Coverage
Validation Efficiency
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 member of the L13P family of ribosomal proteins that is a component of the 60S subunit. The encoded protein also plays a role in the repression of inflammatory genes as a component of the IFN-gamma-activated inhibitor of translation (GAIT) complex. This gene is co-transcribed with the small nucleolar RNA genes U32, U33, U34, and U35, which are located in the second, fourth, fifth, and sixth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygotes lacking snoRNAs encoded by introns of this gene show altered mitochondrial metabolism, lower reactive oxygen species tone, enhanced glucose-stimulated insulin secretion and glucose tolerance, reduced oxidative stress responses in pancreatic islets, and resistance to diabetogenic stimuli. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930572O03Rik C A 5: 15,656,886 probably benign Het
Ankhd1 A G 18: 36,665,459 probably benign Het
Anpep A G 7: 79,825,736 V879A possibly damaging Het
Asb13 T G 13: 3,643,476 V78G probably null Het
Atad2b A G 12: 5,024,593 R1051G probably damaging Het
Bdp1 T C 13: 100,098,510 Y192C probably damaging Het
C1ql2 G T 1: 120,341,670 G185C probably damaging Het
C87499 T A 4: 88,629,070 K121N probably benign Het
Catsperg2 A G 7: 29,705,404 S745P possibly damaging Het
Col19a1 A T 1: 24,561,306 S52T unknown Het
Col4a2 G T 8: 11,443,685 G1418V probably damaging Het
Crnkl1 C T 2: 145,918,468 D677N possibly damaging Het
Cyp2j8 T A 4: 96,503,842 N125I probably benign Het
Cyp2t4 A T 7: 27,155,298 M68L probably benign Het
Dclk2 T A 3: 86,799,090 probably null Het
Dmxl2 T C 9: 54,401,704 D1921G probably benign Het
Dnah10 G A 5: 124,828,603 G4104S probably damaging Het
Echdc2 T C 4: 108,178,911 I273T probably damaging Het
Extl1 T C 4: 134,358,019 K596E probably damaging Het
Fads3 A T 19: 10,052,299 D108V probably null Het
Fam135b A G 15: 71,450,494 L1274P probably damaging Het
Fat1 T A 8: 45,024,602 H2228Q possibly damaging Het
Gcc2 C T 10: 58,292,680 H1341Y probably damaging Het
Gls2 A G 10: 128,200,971 probably null Het
Gm13119 T A 4: 144,362,530 H139Q possibly damaging Het
Gpr137 A C 19: 6,939,704 V139G probably damaging Het
Ikbke A G 1: 131,270,012 probably null Het
Irak2 A T 6: 113,678,675 N285Y probably benign Het
Kcnu1 G A 8: 25,897,856 C566Y probably benign Het
Klhl29 G A 12: 5,140,705 P97S probably benign Het
Lama4 T C 10: 39,065,595 probably benign Het
Lhx6 G A 2: 36,091,716 probably benign Het
Mdn1 T C 4: 32,723,651 L2529P probably damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Naa15 T A 3: 51,438,405 V19D probably damaging Het
Ncbp3 A T 11: 73,073,529 probably benign Het
Nckipsd G A 9: 108,814,969 V530I probably benign Het
Neb A G 2: 52,308,747 I394T possibly damaging Het
Nnmt A T 9: 48,591,924 probably benign Het
Nupl1 T A 14: 60,242,577 I207L probably benign Het
Olfr113 A T 17: 37,574,917 C169S probably damaging Het
Olfr180 C T 16: 58,915,850 E264K probably benign Het
Olfr290 T A 7: 84,916,370 M197K probably damaging Het
Otud4 T A 8: 79,672,881 N741K probably damaging Het
Pard6a T A 8: 105,703,201 C264S probably benign Het
Plch2 T C 4: 155,006,642 N276S probably damaging Het
Racgap1 T C 15: 99,636,122 probably benign Het
Rad51d T C 11: 82,889,746 D70G probably damaging Het
Recql4 C T 15: 76,707,336 A484T possibly damaging Het
Reg3g A T 6: 78,466,779 S149T probably benign Het
Scn10a T C 9: 119,672,226 Y164C probably damaging Het
Scn2a A G 2: 65,764,440 I1878V probably benign Het
Sgcg T A 14: 61,240,347 R98* probably null Het
Tas2r137 A T 6: 40,491,340 I35F probably benign Het
Tex19.2 A G 11: 121,116,812 F270S possibly damaging Het
Traip C T 9: 107,970,550 R391W probably benign Het
Trim7 A G 11: 48,845,571 N251D probably damaging Het
Trmt2a T A 16: 18,249,487 V8D probably benign Het
Ubr3 A C 2: 69,988,810 I9L probably benign Het
Usp42 A G 5: 143,717,142 S575P probably benign Het
Vmn2r52 G T 7: 10,169,096 H468Q probably benign Het
Vmn2r59 T A 7: 42,012,064 T776S possibly damaging Het
Zcchc6 T C 13: 59,816,698 E221G probably damaging Het
Other mutations in Rpl13a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1972:Rpl13a UTSW 7 45125995 nonsense probably null
R1973:Rpl13a UTSW 7 45125995 nonsense probably null
R4501:Rpl13a UTSW 7 45126140 missense probably benign 0.13
R4674:Rpl13a UTSW 7 45126818 unclassified probably benign
R4675:Rpl13a UTSW 7 45126818 unclassified probably benign
R5151:Rpl13a UTSW 7 45125961 missense probably benign 0.35
R7565:Rpl13a UTSW 7 45127042 missense probably benign 0.05
Z1088:Rpl13a UTSW 7 45127513 missense probably damaging 1.00
Posted On2011-07-12