Incidental Mutation 'R8744:Rpl7'
ID 663387
Institutional Source Beutler Lab
Gene Symbol Rpl7
Ensembl Gene ENSMUSG00000043716
Gene Name ribosomal protein L7
Synonyms Surf-3, Rpl7a
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R8744 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 16171519-16174657 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16172113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 218 (T218A)
Ref Sequence ENSEMBL: ENSMUSP00000071616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027053] [ENSMUST00000058437]
AlphaFold P14148
Predicted Effect probably benign
Transcript: ENSMUST00000027053
SMART Domains Protein: ENSMUSP00000027053
Gene: ENSMUSG00000025921

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:KR 37 231 3.1e-8 PFAM
Pfam:adh_short 90 259 1.8e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058437
AA Change: T218A

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000071616
Gene: ENSMUSG00000043716
AA Change: T218A

DomainStartEndE-ValueType
Pfam:Ribosomal_L30_N 39 109 4.5e-31 PFAM
Pfam:Ribosomal_L30 112 162 1.3e-27 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000118695
Gene: ENSMUSG00000043716
AA Change: T243A

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
Pfam:Ribosomal_L30_N 65 135 2.1e-31 PFAM
Pfam:Ribosomal_L30 138 188 3e-29 PFAM
Meta Mutation Damage Score 0.3143 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 98% (64/65)
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 L30P family of ribosomal proteins. It contains an N-terminal basic region-leucine zipper (BZIP)-like domain and the RNP consensus submotif RNP2. In vitro the BZIP-like domain mediates homodimerization and stable binding to DNA and RNA, with a preference for 28S rRNA and mRNA. The protein can inhibit cell-free translation of mRNAs, suggesting that it plays a regulatory role in the translation apparatus. It is located in the cytoplasm. The protein has been shown to be an autoantigen in patients with systemic autoimmune diseases, such as systemic lupus erythematosus. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik C A 11: 58,182,260 (GRCm39) probably null Het
Adam2 A G 14: 66,272,165 (GRCm39) probably null Het
Akt2 A T 7: 27,317,738 (GRCm39) D94V probably benign Het
Anapc7 C T 5: 122,566,211 (GRCm39) S40L probably benign Het
Ash1l G T 3: 88,965,890 (GRCm39) A2431S possibly damaging Het
Atoh1 A T 6: 64,706,902 (GRCm39) Q199L probably damaging Het
Atp10b T C 11: 43,121,177 (GRCm39) C947R probably damaging Het
Ccdc50 G A 16: 27,255,148 (GRCm39) V199I possibly damaging Het
Ccne1 A T 7: 37,802,598 (GRCm39) C65S probably benign Het
Cep152 A G 2: 125,436,791 (GRCm39) probably null Het
Col6a3 C G 1: 90,695,328 (GRCm39) probably benign Het
Cyp4a10 A G 4: 115,386,667 (GRCm39) D438G probably benign Het
Dgkb A G 12: 38,488,611 (GRCm39) H659R probably damaging Het
Dhx29 A G 13: 113,089,418 (GRCm39) I730V possibly damaging Het
Dync2h1 G A 9: 7,011,220 (GRCm39) Q3658* probably null Het
Eif2ak4 C A 2: 118,261,474 (GRCm39) C671* probably null Het
Eif4g3 AGCGGCGGCGGCGGCGGC AGCGGCGGCGGCGGC 4: 137,721,372 (GRCm39) probably benign Het
Ep400 T C 5: 110,889,925 (GRCm39) H446R unknown Het
Epb41l2 C T 10: 25,317,725 (GRCm39) L81F probably damaging Het
Ercc8 G A 13: 108,320,307 (GRCm39) A298T probably benign Het
Fbxo10 T C 4: 45,043,880 (GRCm39) M648V probably benign Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gnpda2 C T 5: 69,735,459 (GRCm39) A211T probably damaging Het
Gtf2h5 C CA 17: 6,134,833 (GRCm39) probably null Het
Hormad1 T C 3: 95,469,926 (GRCm39) Y58H possibly damaging Het
Igkv4-81 T C 6: 68,968,046 (GRCm39) I18M possibly damaging Het
Itgav G T 2: 83,600,427 (GRCm39) A312S probably benign Het
Itpr1 G T 6: 108,354,763 (GRCm39) A457S possibly damaging Het
Kcna10 T C 3: 107,101,702 (GRCm39) L111P probably damaging Het
Kcnh7 T C 2: 63,012,433 (GRCm39) R92G possibly damaging Het
Lamc2 G A 1: 153,019,484 (GRCm39) P486S probably benign Het
Lrba C T 3: 86,211,640 (GRCm39) T420M probably benign Het
Lrrc52 G A 1: 167,294,150 (GRCm39) T45M probably benign Het
Lsm8 C A 6: 18,853,638 (GRCm39) A80E probably benign Het
Ly6g T A 15: 75,027,518 (GRCm39) S9T probably benign Het
Mcc A G 18: 44,857,639 (GRCm39) Y159H probably benign Het
Megf11 T C 9: 64,451,970 (GRCm39) probably null Het
Mrpl9 T A 3: 94,355,082 (GRCm39) probably benign Het
Ndst4 T C 3: 125,506,989 (GRCm39) F210L possibly damaging Het
Or13l2 A G 3: 97,317,597 (GRCm39) V300A probably benign Het
Or5d40 T A 2: 88,015,723 (GRCm39) C167* probably null Het
Pappa2 A G 1: 158,611,487 (GRCm39) V1492A possibly damaging Het
Pcdhga2 A G 18: 37,804,373 (GRCm39) H739R probably benign Het
Pcdhga8 A G 18: 37,860,827 (GRCm39) T628A probably damaging Het
Plekhn1 C T 4: 156,318,364 (GRCm39) R86H probably damaging Het
Pofut1 T A 2: 153,101,461 (GRCm39) W72R probably benign Het
Polr3b C A 10: 84,464,488 (GRCm39) probably benign Het
Rab3b A T 4: 108,781,184 (GRCm39) I104F probably damaging Het
Rab5b A T 10: 128,518,751 (GRCm39) V127D probably damaging Het
Rnf170 A G 8: 26,619,408 (GRCm39) M211V unknown Het
Serinc2 T C 4: 130,158,988 (GRCm39) probably benign Het
Socs2 T A 10: 95,228,662 (GRCm39) Q196L Het
Stab2 T C 10: 86,805,213 (GRCm39) H255R probably benign Het
Syvn1 G A 19: 6,099,198 (GRCm39) G149D probably damaging Het
Them5 T C 3: 94,253,472 (GRCm39) S161P probably damaging Het
Tlr1 A T 5: 65,083,873 (GRCm39) Y235N possibly damaging Het
Toporsl T C 4: 52,611,967 (GRCm39) L620P probably benign Het
Traf3 A T 12: 111,228,230 (GRCm39) E480D probably benign Het
Trav13n-4 A G 14: 53,601,399 (GRCm39) Y56C probably damaging Het
Trps1 T C 15: 50,524,642 (GRCm39) Y1096C probably damaging Het
Usp2 A G 9: 43,998,510 (GRCm39) probably benign Het
Usp40 A T 1: 87,911,491 (GRCm39) L512Q probably benign Het
Vmn1r175 T C 7: 23,508,403 (GRCm39) T75A probably benign Het
Zan A G 5: 137,426,126 (GRCm39) V2550A unknown Het
Zfp235 A T 7: 23,839,924 (GRCm39) E114D possibly damaging Het
Zmym1 A T 4: 126,945,165 (GRCm39) D141E probably damaging Het
Other mutations in Rpl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Rpl7 APN 1 16,172,807 (GRCm39) missense possibly damaging 0.48
R0241:Rpl7 UTSW 1 16,173,446 (GRCm39) missense possibly damaging 0.57
R1033:Rpl7 UTSW 1 16,172,728 (GRCm39) missense probably benign 0.36
R1447:Rpl7 UTSW 1 16,172,821 (GRCm39) missense probably benign 0.01
R1586:Rpl7 UTSW 1 16,172,807 (GRCm39) missense probably benign 0.02
R4809:Rpl7 UTSW 1 16,172,189 (GRCm39) intron probably benign
R6511:Rpl7 UTSW 1 16,173,889 (GRCm39) missense probably benign 0.00
R8000:Rpl7 UTSW 1 16,172,949 (GRCm39) missense probably benign 0.22
R8832:Rpl7 UTSW 1 16,173,485 (GRCm39) missense possibly damaging 0.88
R8875:Rpl7 UTSW 1 16,173,753 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- ACACATAGTTTTGCGATTGCCAG -3'
(R):5'- TCCTTAAAGGCTCTGCATCC -3'

Sequencing Primer
(F):5'- TGCGATTGCCAGAAATAGATTC -3'
(R):5'- GGAATTCAGATTGCCTTCATCTG -3'
Posted On 2021-03-08