Incidental Mutation 'R5424:Rpl22l1'
ID 426743
Institutional Source Beutler Lab
Gene Symbol Rpl22l1
Ensembl Gene ENSMUSG00000039221
Gene Name ribosomal protein L22 like 1
Synonyms 3110001N18Rik
MMRRC Submission 042990-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.926) question?
Stock # R5424 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 28859660-28861573 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 28861047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043867] [ENSMUST00000193168] [ENSMUST00000194649]
AlphaFold Q9D7S7
Predicted Effect probably benign
Transcript: ENSMUST00000043867
SMART Domains Protein: ENSMUSP00000043111
Gene: ENSMUSG00000039221

DomainStartEndE-ValueType
Pfam:Ribosomal_L22e 11 118 9e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191667
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192940
Predicted Effect probably benign
Transcript: ENSMUST00000193168
SMART Domains Protein: ENSMUSP00000141360
Gene: ENSMUSG00000039221

DomainStartEndE-ValueType
Pfam:Ribosomal_L22e 8 50 2.4e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194092
Predicted Effect probably benign
Transcript: ENSMUST00000194649
SMART Domains Protein: ENSMUSP00000141510
Gene: ENSMUSG00000039221

DomainStartEndE-ValueType
Pfam:Ribosomal_L22e 7 120 2.2e-53 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (59/59)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal development at E9.5 and die by E12.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C A 1: 130,670,678 (GRCm39) A300D probably damaging Het
Abca14 T C 7: 119,810,777 (GRCm39) Y119H probably benign Het
Actb A G 5: 142,891,306 (GRCm39) probably benign Het
Ada T A 2: 163,570,045 (GRCm39) K323* probably null Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Aire A T 10: 77,872,553 (GRCm39) V355E probably damaging Het
Atp8a1 T C 5: 67,969,443 (GRCm39) I117M probably damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Clca3a2 A G 3: 144,789,942 (GRCm39) F465L probably damaging Het
Cpne8 T A 15: 90,400,260 (GRCm39) M345L probably benign Het
Ddx54 T C 5: 120,757,926 (GRCm39) probably null Het
Dnah14 T G 1: 181,590,875 (GRCm39) M3256R possibly damaging Het
Epha2 T A 4: 141,046,251 (GRCm39) Y483* probably null Het
Ermard T A 17: 15,280,032 (GRCm39) S509T possibly damaging Het
Fam186a G T 15: 99,843,644 (GRCm39) H867N unknown Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Gas8 C A 8: 124,253,251 (GRCm39) L200I possibly damaging Het
Gfra2 A T 14: 71,133,287 (GRCm39) D39V probably damaging Het
Gm10770 T C 2: 150,020,948 (GRCm39) T190A probably benign Het
Gm2617 T C 19: 9,301,320 (GRCm39) noncoding transcript Het
Gm5592 C T 7: 40,805,017 (GRCm39) probably benign Het
Gmppb T A 9: 107,929,204 (GRCm39) probably null Het
Ifit2 T A 19: 34,551,458 (GRCm39) C333S probably benign Het
Ighg2b T C 12: 113,271,550 (GRCm39) K1R unknown Het
Impdh2-ps G T 8: 100,758,141 (GRCm39) noncoding transcript Het
Kdelr2 A C 5: 143,403,899 (GRCm39) E96A probably benign Het
Lama2 G A 10: 26,860,392 (GRCm39) R3032C probably damaging Het
Lipg T A 18: 75,087,324 (GRCm39) I166F probably damaging Het
Lrrc8b T C 5: 105,628,569 (GRCm39) V305A probably damaging Het
Marveld2 T C 13: 100,748,695 (GRCm39) H128R probably benign Het
Mgat4a A G 1: 37,505,636 (GRCm39) V189A probably benign Het
Mroh2b A T 15: 4,971,094 (GRCm39) E1033V probably damaging Het
Mtmr7 A G 8: 41,059,873 (GRCm39) V80A probably benign Het
Ndrg2 A G 14: 52,146,342 (GRCm39) S153P probably damaging Het
Nelfa C T 5: 34,079,189 (GRCm39) probably null Het
Nes G T 3: 87,886,131 (GRCm39) E1419D possibly damaging Het
Nipa1 C A 7: 55,629,223 (GRCm39) V297L possibly damaging Het
Obox5 T A 7: 15,492,807 (GRCm39) I254K probably benign Het
Or56b35 T C 7: 104,963,778 (GRCm39) V189A possibly damaging Het
Or8k24 G A 2: 86,216,184 (GRCm39) Q193* probably null Het
Pcdhga7 G A 18: 37,848,388 (GRCm39) A132T probably benign Het
Pla1a T A 16: 38,235,137 (GRCm39) I186F probably damaging Het
Plscr4 T A 9: 92,372,075 (GRCm39) M282K possibly damaging Het
Scn5a T C 9: 119,330,800 (GRCm39) D1246G probably damaging Het
Senp7 A G 16: 56,006,471 (GRCm39) S932G possibly damaging Het
Slc51a C A 16: 32,297,565 (GRCm39) A111S probably benign Het
Srcin1 T A 11: 97,427,885 (GRCm39) K236* probably null Het
Tbxas1 A G 6: 39,004,839 (GRCm39) D362G possibly damaging Het
Tcl1b5 T C 12: 105,146,275 (GRCm39) I116T possibly damaging Het
Tgm7 T A 2: 120,929,522 (GRCm39) M251L probably damaging Het
Tnn T A 1: 159,950,272 (GRCm39) Q778L possibly damaging Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Zfp622 T C 15: 25,984,855 (GRCm39) C74R probably damaging Het
Zfp646 C A 7: 127,481,875 (GRCm39) H1351N possibly damaging Het
Other mutations in Rpl22l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0115:Rpl22l1 UTSW 3 28,860,685 (GRCm39) missense probably damaging 0.99
R0543:Rpl22l1 UTSW 3 28,861,423 (GRCm39) nonsense probably null
R1859:Rpl22l1 UTSW 3 28,860,747 (GRCm39) splice site probably null
R1927:Rpl22l1 UTSW 3 28,860,738 (GRCm39) missense possibly damaging 0.82
R2064:Rpl22l1 UTSW 3 28,860,957 (GRCm39) missense possibly damaging 0.88
R5054:Rpl22l1 UTSW 3 28,860,985 (GRCm39) missense possibly damaging 0.77
R5561:Rpl22l1 UTSW 3 28,860,969 (GRCm39) missense probably benign 0.42
R6226:Rpl22l1 UTSW 3 28,860,676 (GRCm39) missense possibly damaging 0.66
R7806:Rpl22l1 UTSW 3 28,860,962 (GRCm39) missense probably benign
R8242:Rpl22l1 UTSW 3 28,860,914 (GRCm39) missense possibly damaging 0.73
R9522:Rpl22l1 UTSW 3 28,860,743 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GGTACCTTCCCTAGTGACCATC -3'
(R):5'- TGGTTTTAAGAAGCAACCAGGAC -3'

Sequencing Primer
(F):5'- TTCCCTAGTGACCATCTAGGG -3'
(R):5'- TTTTAAGAAGCAACCAGGACAAGAGC -3'
Posted On 2016-09-01