Incidental Mutation 'R5054:Rpl22l1'
ID 390689
Institutional Source Beutler Lab
Gene Symbol Rpl22l1
Ensembl Gene ENSMUSG00000039221
Gene Name ribosomal protein L22 like 1
Synonyms 3110001N18Rik
MMRRC Submission 042644-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R5054 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 28805436-28807424 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 28806836 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 67 (S67A)
Ref Sequence ENSEMBL: ENSMUSP00000141510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043867] [ENSMUST00000193168] [ENSMUST00000194649]
AlphaFold Q9D7S7
Predicted Effect probably benign
Transcript: ENSMUST00000043867
AA Change: S68A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000043111
Gene: ENSMUSG00000039221
AA Change: S68A

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

Pfam:Ribosomal_L22e 8 50 2.4e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194092
Predicted Effect possibly damaging
Transcript: ENSMUST00000194649
AA Change: S67A

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141510
Gene: ENSMUSG00000039221
AA Change: S67A

Pfam:Ribosomal_L22e 7 120 2.2e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195827
Meta Mutation Damage Score 0.1507 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 94% (67/71)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A G 13: 59,689,501 (GRCm38) Y257H probably damaging Het
Adam28 C T 14: 68,617,715 (GRCm38) C659Y probably damaging Het
Adamtsl2 G A 2: 27,101,720 (GRCm38) E627K probably damaging Het
Atad5 T A 11: 80,094,676 (GRCm38) S196R probably benign Het
Bcam T A 7: 19,756,860 (GRCm38) probably benign Het
Birc6 A G 17: 74,655,325 (GRCm38) H3978R probably damaging Het
Btbd7 T C 12: 102,838,212 (GRCm38) I190V probably benign Het
Ccdc8 T C 7: 16,995,045 (GRCm38) V153A probably damaging Het
Cyp2a5 C G 7: 26,841,104 (GRCm38) R68G probably damaging Het
Dock3 T C 9: 106,937,906 (GRCm38) Y1254C probably damaging Het
Dync2h1 T C 9: 7,085,007 (GRCm38) E2794G possibly damaging Het
Dytn C A 1: 63,661,159 (GRCm38) V271L possibly damaging Het
Eif1ad15 T C 12: 88,321,301 (GRCm38) I61V probably benign Het
Eif2s2 A C 2: 154,892,670 (GRCm38) probably null Het
Fndc7 A G 3: 108,881,347 (GRCm38) S193P probably damaging Het
Fzr1 G A 10: 81,371,419 (GRCm38) probably benign Het
Gm17472 T C 6: 42,981,004 (GRCm38) I69T probably damaging Het
Gmppa C A 1: 75,439,371 (GRCm38) Y137* probably null Het
Gpr45 A G 1: 43,032,649 (GRCm38) I151V probably benign Het
H1f0 G A 15: 79,028,773 (GRCm38) A18T probably damaging Het
Hbb-bh1 C T 7: 103,841,856 (GRCm38) V114I probably benign Het
Impa2 C A 18: 67,306,727 (GRCm38) P98Q probably damaging Het
Kazn T C 4: 142,108,646 (GRCm38) N573D unknown Het
Kcna2 A T 3: 107,104,340 (GRCm38) D79V probably damaging Het
Kcna7 G A 7: 45,406,591 (GRCm38) R77H probably damaging Het
Kif13a A G 13: 46,802,646 (GRCm38) Y561H probably damaging Het
Klk14 G A 7: 43,692,077 (GRCm38) C51Y probably damaging Het
Klra1 T A 6: 130,375,284 (GRCm38) Q165L probably damaging Het
Mat2b T A 11: 40,680,042 (GRCm38) R318S probably damaging Het
Mgat4d G A 8: 83,368,208 (GRCm38) probably null Het
Mtor T A 4: 148,556,855 (GRCm38) probably null Het
Nostrin A T 2: 69,175,713 (GRCm38) Q247L possibly damaging Het
Obscn T C 11: 59,073,617 (GRCm38) E3033G probably damaging Het
Pam C A 1: 97,821,917 (GRCm38) D839Y probably damaging Het
Pds5a A G 5: 65,637,814 (GRCm38) V693A probably damaging Het
Pigo A T 4: 43,021,337 (GRCm38) L535Q probably damaging Het
Ppp1r12b G T 1: 134,955,733 (GRCm38) A17E probably benign Het
Ptar1 G T 19: 23,694,365 (GRCm38) R44L probably damaging Het
Rad51c T C 11: 87,397,754 (GRCm38) H201R probably benign Het
Rims2 A T 15: 39,517,869 (GRCm38) probably null Het
Rnf219 C T 14: 104,508,030 (GRCm38) G70E probably damaging Het
Rps10 A G 17: 27,630,480 (GRCm38) S143P probably damaging Het
Rundc1 T C 11: 101,425,141 (GRCm38) V13A probably benign Het
Sephs2 C A 7: 127,273,392 (GRCm38) M176I probably benign Het
Serpina16 C T 12: 103,674,930 (GRCm38) V179I probably benign Het
Serpini2 T A 3: 75,259,477 (GRCm38) T158S probably damaging Het
Slc12a3 A G 8: 94,346,351 (GRCm38) R701G probably damaging Het
Slc1a6 A G 10: 78,814,602 (GRCm38) E558G probably damaging Het
Ssx2ip T C 3: 146,430,917 (GRCm38) probably benign Het
Tbr1 A T 2: 61,806,002 (GRCm38) I241F possibly damaging Het
Tgfa G C 6: 86,270,082 (GRCm38) probably null Het
Tlr12 T A 4: 128,617,270 (GRCm38) K396* probably null Het
Tmppe A G 9: 114,405,958 (GRCm38) I442V probably benign Het
Tubb3 T C 8: 123,420,868 (GRCm38) V180A probably damaging Het
Vmn1r222 A G 13: 23,232,731 (GRCm38) V104A probably damaging Het
Vmn2r95 G T 17: 18,451,446 (GRCm38) V482L possibly damaging Het
Zfp184 G T 13: 21,959,282 (GRCm38) R386L possibly damaging Het
Zfp444 T A 7: 6,189,793 (GRCm38) V270E probably damaging Het
Zfp985 A T 4: 147,582,981 (GRCm38) Y102F probably damaging Het
Other mutations in Rpl22l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0115:Rpl22l1 UTSW 3 28,806,536 (GRCm38) missense probably damaging 0.99
R0543:Rpl22l1 UTSW 3 28,807,274 (GRCm38) nonsense probably null
R1859:Rpl22l1 UTSW 3 28,806,598 (GRCm38) splice site probably null
R1927:Rpl22l1 UTSW 3 28,806,589 (GRCm38) missense possibly damaging 0.82
R2064:Rpl22l1 UTSW 3 28,806,808 (GRCm38) missense possibly damaging 0.88
R5424:Rpl22l1 UTSW 3 28,806,898 (GRCm38) intron probably benign
R5561:Rpl22l1 UTSW 3 28,806,820 (GRCm38) missense probably benign 0.42
R6226:Rpl22l1 UTSW 3 28,806,527 (GRCm38) missense possibly damaging 0.66
R7806:Rpl22l1 UTSW 3 28,806,813 (GRCm38) missense probably benign
R8242:Rpl22l1 UTSW 3 28,806,765 (GRCm38) missense possibly damaging 0.73
R9522:Rpl22l1 UTSW 3 28,806,594 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-06-06