Incidental Mutation 'IGL01068:Rpl26'
ID 52214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpl26
Ensembl Gene ENSMUSG00000060938
Gene Name ribosomal protein L26
Synonyms SIG-20
Accession Numbers
Essential gene? Not available question?
Stock # IGL01068
Quality Score
Status
Chromosome 11
Chromosomal Location 68901583-68906989 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68902398 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 42 (Y42H)
Ref Sequence ENSEMBL: ENSMUSP00000098576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073471] [ENSMUST00000101014] [ENSMUST00000128952] [ENSMUST00000167436]
AlphaFold P61255
Predicted Effect probably benign
Transcript: ENSMUST00000073471
AA Change: Y42H

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000073175
Gene: ENSMUSG00000060938
AA Change: Y42H

DomainStartEndE-ValueType
KOW 48 76 9.99e-4 SMART
low complexity region 108 122 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101014
AA Change: Y42H

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000098576
Gene: ENSMUSG00000060938
AA Change: Y42H

DomainStartEndE-ValueType
Pfam:KOW 54 105 7.2e-8 PFAM
low complexity region 106 120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128952
AA Change: Y42H

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000119329
Gene: ENSMUSG00000060938
AA Change: Y42H

DomainStartEndE-ValueType
KOW 48 76 9.99e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138973
Predicted Effect probably benign
Transcript: ENSMUST00000167436
AA Change: Y42H

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000129072
Gene: ENSMUSG00000060938
AA Change: Y42H

DomainStartEndE-ValueType
KOW 48 76 9.99e-4 SMART
low complexity region 108 122 N/A INTRINSIC
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 ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24P 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. Mutations in this gene result in Diamond-Blackfan anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,504,175 probably benign Het
Adgra1 A G 7: 139,845,625 E18G probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Atg16l1 C T 1: 87,774,824 S269L probably damaging Het
Atp8a1 A G 5: 67,667,337 V853A probably benign Het
Bicral T C 17: 46,825,391 I298V probably damaging Het
Cad A G 5: 31,061,770 probably benign Het
Chd9 A T 8: 91,042,116 Y2448F probably benign Het
Clstn3 A G 6: 124,462,139 L16S probably damaging Het
Cmtr2 G A 8: 110,222,869 V604M possibly damaging Het
Ctcf A T 8: 105,681,485 probably benign Het
Eif2ak2 A G 17: 78,865,371 I295T probably damaging Het
Foxm1 G A 6: 128,370,967 R284H possibly damaging Het
Gabra2 T C 5: 70,962,072 I362M probably benign Het
Hivep1 C A 13: 42,159,984 P1900Q probably benign Het
Klhl25 G T 7: 75,866,149 E268* probably null Het
Klk1b16 T C 7: 44,140,678 L124P probably damaging Het
Ltf A T 9: 111,035,812 probably null Het
Mpped2 T A 2: 106,864,746 H248Q probably damaging Het
Mrpl1 T A 5: 96,224,036 probably benign Het
Mthfd1l T A 10: 4,028,428 S429R probably damaging Het
Myl2 G A 5: 122,106,704 V146I probably benign Het
Myo10 T A 15: 25,739,309 I527N possibly damaging Het
Ncoa3 T C 2: 166,052,795 S333P probably damaging Het
Olfr1297 T G 2: 111,621,340 T245P probably damaging Het
Olfr350 T G 2: 36,850,270 S75A probably damaging Het
Oxct1 T C 15: 4,053,764 F155S probably damaging Het
P4ha1 T C 10: 59,339,335 V39A probably damaging Het
Padi6 G T 4: 140,730,953 T514N possibly damaging Het
Pgm1 G A 5: 64,107,796 V387I probably damaging Het
Ppt1 G A 4: 122,844,007 C46Y probably damaging Het
Rnf225 T C 7: 12,928,900 probably benign Het
Rundc1 A G 11: 101,434,142 N558S probably damaging Het
Sema3e T G 5: 14,233,718 probably null Het
Slc8a1 T C 17: 81,388,942 I888V probably benign Het
Thsd7b T C 1: 129,596,146 C306R probably damaging Het
Tmem209 A C 6: 30,502,086 L197R probably benign Het
Tmem38b T G 4: 53,849,024 V119G probably damaging Het
Trpc1 T C 9: 95,726,494 D82G probably damaging Het
Zfp292 A G 4: 34,806,763 F2094L probably damaging Het
Zfp638 C T 6: 83,934,994 R453W probably damaging Het
Other mutations in Rpl26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02490:Rpl26 APN 11 68904390 missense probably damaging 1.00
R2074:Rpl26 UTSW 11 68903273 missense probably benign 0.03
R5308:Rpl26 UTSW 11 68904458 missense probably damaging 0.98
Z1188:Rpl26 UTSW 11 68903243 missense probably benign 0.29
Posted On 2013-06-21