Incidental Mutation 'R1447:Rpl7'
ID 160677
Institutional Source Beutler Lab
Gene Symbol Rpl7
Ensembl Gene ENSMUSG00000043716
Gene Name ribosomal protein L7
Synonyms Surf-3, Rpl7a
MMRRC Submission 039502-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R1447 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 16171519-16174657 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16172821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 166 (Y166F)
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: Y166F

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000071616
Gene: ENSMUSG00000043716
AA Change: Y166F

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: Y191F
SMART Domains Protein: ENSMUSP00000118695
Gene: ENSMUSG00000043716
AA Change: Y191F

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
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.8%
  • 20x: 84.2%
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A T 15: 11,263,447 (GRCm39) D603V probably benign Het
Ahnak A T 19: 8,984,446 (GRCm39) E1910V probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Amotl1 A G 9: 14,467,038 (GRCm39) V704A probably benign Het
Ankrd50 A T 3: 38,509,691 (GRCm39) V892E probably damaging Het
Aoc1 G A 6: 48,883,176 (GRCm39) V351I probably benign Het
Atp6v1b1 T C 6: 83,734,924 (GRCm39) V412A possibly damaging Het
Atp8b2 A T 3: 89,851,477 (GRCm39) I906N probably damaging Het
Bltp1 T C 3: 37,019,735 (GRCm39) L2048P probably damaging Het
Bnc2 A G 4: 84,211,457 (GRCm39) V304A probably benign Het
Btaf1 A G 19: 36,969,854 (GRCm39) D1176G probably benign Het
C1qtnf3 G A 15: 10,952,735 (GRCm39) G66R probably damaging Het
Ccdc162 T C 10: 41,456,243 (GRCm39) E360G probably damaging Het
Csmd1 C A 8: 15,975,306 (GRCm39) G2968* probably null Het
Cyp2j7 A T 4: 96,083,530 (GRCm39) F473L possibly damaging Het
Ddx24 T C 12: 103,390,566 (GRCm39) K142E possibly damaging Het
Dnah1 A T 14: 31,028,855 (GRCm39) M625K probably benign Het
Dnah9 A T 11: 65,999,308 (GRCm39) Y944N possibly damaging Het
Eef1akmt1 T A 14: 57,803,441 (GRCm39) K38* probably null Het
Enpp2 C T 15: 54,782,994 (GRCm39) probably null Het
Eps8l1 A G 7: 4,477,055 (GRCm39) E508G probably damaging Het
Etaa1 A T 11: 17,896,625 (GRCm39) D497E possibly damaging Het
Fam181b C T 7: 92,729,368 (GRCm39) A47V probably damaging Het
Fubp3 T C 2: 31,490,559 (GRCm39) V221A probably damaging Het
Golga2 T C 2: 32,187,788 (GRCm39) V191A possibly damaging Het
Haus5 G T 7: 30,361,216 (GRCm39) probably null Het
Hydin T C 8: 111,249,798 (GRCm39) L2247P probably damaging Het
Lama5 A C 2: 179,827,671 (GRCm39) I2197S probably damaging Het
Mapre3 C T 5: 31,019,151 (GRCm39) probably benign Het
Mast2 C A 4: 116,169,210 (GRCm39) M733I probably benign Het
Mphosph10 A T 7: 64,030,698 (GRCm39) F514I probably damaging Het
Mterf3 A G 13: 67,065,103 (GRCm39) L266P probably damaging Het
Nup205 A G 6: 35,192,120 (GRCm39) D1114G probably benign Het
Or1ak2 T G 2: 36,827,788 (GRCm39) V219G possibly damaging Het
Or1e21 A G 11: 73,344,700 (GRCm39) F113L probably benign Het
Phf24 G T 4: 42,938,232 (GRCm39) E119* probably null Het
Pik3r5 G A 11: 68,385,003 (GRCm39) R636Q probably benign Het
Plaat3 G A 19: 7,556,598 (GRCm39) R133H probably benign Het
Rida T A 15: 34,488,757 (GRCm39) Q45L possibly damaging Het
Ros1 T C 10: 51,974,954 (GRCm39) T1544A possibly damaging Het
Rps6ka5 A G 12: 100,544,084 (GRCm39) I338T probably benign Het
Scn3a A T 2: 65,300,324 (GRCm39) N1347K probably damaging Het
Serpinb6d A G 13: 33,854,739 (GRCm39) D238G probably benign Het
Sh3rf2 T A 18: 42,234,736 (GRCm39) I173N probably benign Het
Smarcc2 T C 10: 128,305,660 (GRCm39) probably null Het
Thoc2l T C 5: 104,670,070 (GRCm39) S1531P possibly damaging Het
Thsd4 T C 9: 59,904,496 (GRCm39) N567D probably benign Het
Tmprss13 C A 9: 45,239,878 (GRCm39) P62Q unknown Het
Tmprss7 T C 16: 45,501,033 (GRCm39) Q256R probably benign Het
Tssc4 A G 7: 142,623,892 (GRCm39) T67A probably benign Het
Tssk5 G A 15: 76,256,304 (GRCm39) Q372* probably null Het
Usp47 G T 7: 111,673,775 (GRCm39) probably null Het
Utp15 A G 13: 98,389,386 (GRCm39) I304T possibly damaging Het
Vmn1r35 A C 6: 66,655,890 (GRCm39) V93G probably benign Het
Zfhx3 A C 8: 109,675,076 (GRCm39) Q2042P probably benign Het
Zfp532 C A 18: 65,758,061 (GRCm39) R665S probably damaging Het
Zfp976 G T 7: 42,262,023 (GRCm39) P605T possibly damaging Het
Zfpl1 A G 19: 6,132,649 (GRCm39) V125A possibly 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
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
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 2014-03-14