Incidental Mutation 'R1586:Rpl7'
ID 177481
Institutional Source Beutler Lab
Gene Symbol Rpl7
Ensembl Gene ENSMUSG00000043716
Gene Name ribosomal protein L7
Synonyms Surf-3, Rpl7a
MMRRC Submission 039623-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R1586 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 16171519-16174657 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 16172807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 171 (S171T)
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: S171T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000071616
Gene: ENSMUSG00000043716
AA Change: S171T

DomainStartEndE-ValueType
Pfam:Ribosomal_L30_N 39 109 4.5e-31 PFAM
Pfam:Ribosomal_L30 112 162 1.3e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141217
Predicted Effect unknown
Transcript: ENSMUST00000149566
AA Change: S196T
SMART Domains Protein: ENSMUSP00000118695
Gene: ENSMUSG00000043716
AA Change: S196T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151017
Meta Mutation Damage Score 0.0631 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency 93% (65/70)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,337,228 (GRCm39) A2361V probably damaging Het
Alpi A G 1: 87,027,923 (GRCm39) I219T probably damaging Het
Anapc10 T A 8: 80,501,772 (GRCm39) M180K probably benign Het
Ank3 A G 10: 69,713,708 (GRCm39) I431V probably damaging Het
Anxa8 T A 14: 33,815,894 (GRCm39) D182E probably damaging Het
Atp1a3 T A 7: 24,678,808 (GRCm39) I945F probably damaging Het
Atp2a3 T C 11: 72,882,570 (GRCm39) S1019P probably damaging Het
Cbs T A 17: 31,841,448 (GRCm39) I258F probably damaging Het
Cic T C 7: 24,985,386 (GRCm39) S277P probably damaging Het
Cidea T A 18: 67,493,230 (GRCm39) V83E probably damaging Het
Cilp G A 9: 65,186,997 (GRCm39) G1031S probably damaging Het
Clca3a2 A G 3: 144,516,477 (GRCm39) I373T possibly damaging Het
Cpvl T A 6: 53,903,886 (GRCm39) D293V probably damaging Het
Cryz A G 3: 154,317,147 (GRCm39) N122S probably benign Het
Dmap1 T C 4: 117,533,319 (GRCm39) E245G probably damaging Het
Epha2 C T 4: 141,045,916 (GRCm39) probably benign Het
Fam222b C T 11: 78,045,347 (GRCm39) L303F probably damaging Het
Fastkd1 T C 2: 69,542,492 (GRCm39) D105G probably benign Het
Fat4 T A 3: 38,943,009 (GRCm39) L634Q probably damaging Het
Fbxo10 A T 4: 45,042,036 (GRCm39) I731N possibly damaging Het
Fig4 A G 10: 41,141,423 (GRCm39) F279L probably damaging Het
Guk1 A G 11: 59,077,675 (GRCm39) S22P probably damaging Het
Kmt2d A G 15: 98,762,934 (GRCm39) probably benign Het
Macf1 A T 4: 123,403,639 (GRCm39) S727T probably benign Het
Mki67 T A 7: 135,315,701 (GRCm39) K54* probably null Het
Ms4a8a T C 19: 11,053,696 (GRCm39) T137A possibly damaging Het
Myo5c T C 9: 75,174,313 (GRCm39) Y557H probably damaging Het
Nav3 T A 10: 109,689,115 (GRCm39) K387N probably damaging Het
Oga T G 19: 45,765,349 (GRCm39) T153P possibly damaging Het
Or5bb10 G T 19: 12,206,241 (GRCm39) A223E probably damaging Het
Pde4c T A 8: 71,199,508 (GRCm39) Y223N probably damaging Het
Psd T G 19: 46,303,237 (GRCm39) E715A probably damaging Het
Rrm1 A G 7: 102,116,112 (GRCm39) *66W probably null Het
Scgb1b3 T A 7: 31,075,388 (GRCm39) H79Q probably damaging Het
Serpinb9 A T 13: 33,199,469 (GRCm39) M255L probably benign Het
Slc35a4 T C 18: 36,816,058 (GRCm39) V296A probably benign Het
Smgc G A 15: 91,722,596 (GRCm39) A9T possibly damaging Het
Snx11 C A 11: 96,661,522 (GRCm39) W161L probably benign Het
Spag17 A G 3: 99,929,068 (GRCm39) K533E possibly damaging Het
Spata31g1 A G 4: 42,971,512 (GRCm39) I282V probably benign Het
Speer4b A G 5: 27,702,011 (GRCm39) S250P probably damaging Het
Spta1 A T 1: 174,041,061 (GRCm39) H1287L probably benign Het
Surf2 T C 2: 26,809,767 (GRCm39) F239S probably damaging Het
Tada1 G A 1: 166,214,319 (GRCm39) R106H possibly damaging Het
Tbc1d22a C A 15: 86,235,852 (GRCm39) probably null Het
Tbcd A G 11: 121,387,886 (GRCm39) Q339R probably benign Het
Tdrd7 A G 4: 45,994,445 (GRCm39) H281R probably benign Het
Tomm5 A G 4: 45,107,915 (GRCm39) probably null Het
Ttc7 T C 17: 87,669,373 (GRCm39) probably null Het
Ulk1 A T 5: 110,937,382 (GRCm39) F638Y probably damaging Het
Vps35l T A 7: 118,409,195 (GRCm39) I612N probably damaging Het
Wdr93 C A 7: 79,418,109 (GRCm39) D277E probably damaging Het
Znrf3 T C 11: 5,231,477 (GRCm39) R583G probably damaging Het
Zscan29 T A 2: 120,991,641 (GRCm39) I716F 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
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
R8744:Rpl7 UTSW 1 16,172,113 (GRCm39) missense probably benign 0.25
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'- GGAAGACACATGACATTTGGGCCAC -3'
(R):5'- TCTTCGACAGATCTTCAATGGCACC -3'

Sequencing Primer
(F):5'- CACCCACACGTATACaaaataaaag -3'
(R):5'- ATGGCACCTTTGTTAAGCTCAAC -3'
Posted On 2014-04-24