Incidental Mutation 'R5594:Rpl22'
ID 486832
Institutional Source Beutler Lab
Gene Symbol Rpl22
Ensembl Gene ENSMUSG00000028936
Gene Name ribosomal protein L22
Synonyms 2700038K18Rik
MMRRC Submission 043146-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5594 (G1)
Quality Score 74
Status Validated
Chromosome 4
Chromosomal Location 152410199-152418528 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 152410259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103191] [ENSMUST00000139685] [ENSMUST00000188151]
AlphaFold P67984
Predicted Effect probably benign
Transcript: ENSMUST00000103191
SMART Domains Protein: ENSMUSP00000099480
Gene: ENSMUSG00000028936

DomainStartEndE-ValueType
Pfam:Ribosomal_L22e 16 124 6.9e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127659
Predicted Effect probably benign
Transcript: ENSMUST00000139685
SMART Domains Protein: ENSMUSP00000118787
Gene: ENSMUSG00000028936

DomainStartEndE-ValueType
Pfam:Ribosomal_L22e 13 127 1.3e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150485
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156445
Predicted Effect probably benign
Transcript: ENSMUST00000188151
SMART Domains Protein: ENSMUSP00000140276
Gene: ENSMUSG00000028936

DomainStartEndE-ValueType
Pfam:Ribosomal_L22e 13 127 1.3e-57 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.4%
Validation Efficiency 100% (80/80)
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 cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22E family of ribosomal proteins. Its initiating methionine residue is post-translationally removed. The protein can bind specifically to Epstein-Barr virus-encoded RNAs (EBERs) 1 and 2. The mouse protein has been shown to be capable of binding to heparin. Transcript variants utilizing alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. It was previously thought that this gene mapped to 3q26 and that it was fused to the acute myeloid leukemia 1 (AML1) gene located at 21q22 in some therapy-related myelodysplastic syndrome patients with 3;21 translocations; however, these fusions actually involve a ribosomal protein L22 pseudogene located at 3q26, and this gene actually maps to 1p36.3-p36.2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit arrested alpha beta lineage T cell differentiation at the beta selection stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik C T 11: 3,888,027 (GRCm39) V120I unknown Het
4931414P19Rik A G 14: 54,822,441 (GRCm39) Y399H probably damaging Het
Abca9 G T 11: 110,035,688 (GRCm39) P644Q probably damaging Het
Acly T C 11: 100,412,946 (GRCm39) probably null Het
Adamts14 A T 10: 61,062,880 (GRCm39) probably null Het
Ankdd1a T C 9: 65,409,523 (GRCm39) N471S probably damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Arhgef28 T C 13: 98,076,000 (GRCm39) T1345A probably benign Het
Arhgef40 T A 14: 52,233,614 (GRCm39) L820H probably damaging Het
Atp2b4 A G 1: 133,658,248 (GRCm39) V554A probably damaging Het
Birc7 G A 2: 180,575,129 (GRCm39) probably null Het
Ccdc80 C T 16: 44,936,626 (GRCm39) R684C probably benign Het
Cdc25b C A 2: 131,033,538 (GRCm39) P159Q probably damaging Het
Cdcp3 T A 7: 130,841,252 (GRCm39) D647E probably benign Het
Chek2 G T 5: 111,003,700 (GRCm39) probably null Het
Chil6 C T 3: 106,301,745 (GRCm39) probably null Het
Cr2 A G 1: 194,839,498 (GRCm39) I643T probably damaging Het
Cwf19l2 C A 9: 3,418,773 (GRCm39) Q187K probably benign Het
Cyth4 A G 15: 78,491,275 (GRCm39) probably null Het
Depdc5 A G 5: 33,058,834 (GRCm39) T268A possibly damaging Het
Dnah17 G T 11: 117,934,055 (GRCm39) probably null Het
Dnah3 T C 7: 119,570,844 (GRCm39) Y2210C possibly damaging Het
Elmod3 G A 6: 72,571,799 (GRCm39) probably benign Het
Eogt T A 6: 97,092,996 (GRCm39) T394S probably benign Het
Evi5 A G 5: 107,968,317 (GRCm39) V182A possibly damaging Het
Fbxo30 T C 10: 11,166,223 (GRCm39) I315T probably benign Het
Fibcd1 T C 2: 31,728,629 (GRCm39) N76S probably damaging Het
Gcc2 G T 10: 58,123,064 (GRCm39) R1190M probably damaging Het
Gfm2 T C 13: 97,301,546 (GRCm39) S450P probably damaging Het
Glg1 G A 8: 111,914,513 (GRCm39) R424C probably damaging Het
Gm11543 T A 11: 94,719,380 (GRCm39) noncoding transcript Het
Hhip G T 8: 80,723,492 (GRCm39) D387E probably damaging Het
Hif1a T A 12: 73,984,566 (GRCm39) Y46* probably null Het
Hivep3 G T 4: 119,980,245 (GRCm39) probably null Het
Kif13a T A 13: 46,906,338 (GRCm39) E535V probably damaging Het
Lrch3 T C 16: 32,734,554 (GRCm39) Y15H probably damaging Het
Lyst T G 13: 13,917,918 (GRCm39) I3326S probably damaging Het
Lyst T A 13: 13,933,982 (GRCm39) V3560E probably benign Het
Megf11 T C 9: 64,593,755 (GRCm39) F613L probably damaging Het
Misp G A 10: 79,662,977 (GRCm39) V465M probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Ms4a6c T A 19: 11,455,537 (GRCm39) D115E probably benign Het
Msh6 A G 17: 88,293,497 (GRCm39) T751A probably benign Het
Ntrk3 T A 7: 78,101,647 (GRCm39) T429S probably benign Het
Oplah A C 15: 76,180,837 (GRCm39) *1289G probably null Het
Or14j7 T A 17: 38,234,502 (GRCm39) M15K probably benign Het
Or7e166 T C 9: 19,624,302 (GRCm39) Y60H probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhga6 A T 18: 37,841,581 (GRCm39) T434S probably benign Het
Pign A G 1: 105,574,594 (GRCm39) probably benign Het
Poteg A T 8: 27,937,996 (GRCm39) I51F probably benign Het
Prrc2c C A 1: 162,526,600 (GRCm39) V204F unknown Het
Rhbdd3 T C 11: 5,055,710 (GRCm39) S325P probably damaging Het
Rit1 T A 3: 88,636,444 (GRCm39) L116Q probably damaging Het
Rttn A G 18: 89,108,560 (GRCm39) E1588G possibly damaging Het
Sardh A G 2: 27,110,735 (GRCm39) F577S probably damaging Het
Slc12a7 T A 13: 73,933,258 (GRCm39) D105E probably benign Het
Slc22a23 T A 13: 34,489,240 (GRCm39) D215V probably damaging Het
Slc4a8 C A 15: 100,693,768 (GRCm39) P438T probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Stk19 C T 17: 35,039,538 (GRCm39) probably benign Het
Stx5a T C 19: 8,725,829 (GRCm39) I143T probably damaging Het
Tep1 T C 14: 51,067,339 (GRCm39) H2232R possibly damaging Het
Trmt9b A G 8: 36,979,452 (GRCm39) T352A probably benign Het
Ttc21b A G 2: 66,066,579 (GRCm39) I358T probably benign Het
Tuba8 A G 6: 121,202,863 (GRCm39) D392G possibly damaging Het
Vmn1r1 G A 1: 181,984,972 (GRCm39) P231L probably damaging Het
Zfp330 A G 8: 83,493,941 (GRCm39) W107R probably damaging Het
Zfp715 T A 7: 42,949,116 (GRCm39) Q281H possibly damaging Het
Zfp9 T C 6: 118,442,000 (GRCm39) T221A probably damaging Het
Zgpat T C 2: 181,007,420 (GRCm39) probably benign Het
Other mutations in Rpl22
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2921:Rpl22 UTSW 4 152,412,002 (GRCm39) missense possibly damaging 0.90
R2923:Rpl22 UTSW 4 152,412,002 (GRCm39) missense possibly damaging 0.90
R6225:Rpl22 UTSW 4 152,414,536 (GRCm39) missense probably benign 0.07
R8177:Rpl22 UTSW 4 152,411,968 (GRCm39) missense probably damaging 0.96
R8680:Rpl22 UTSW 4 152,416,763 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTAGAGCTGACCCCTTTATTTC -3'
(R):5'- AACAGCAGTTTCCTCGAGGG -3'

Sequencing Primer
(F):5'- CTCTTTGGGCTCGTCCAG -3'
(R):5'- TGGAGGGCCATTTCCACTC -3'
Posted On 2017-08-23