Incidental Mutation 'IGL00885:Rpl7'
ID 26577
Institutional Source Australian Phenomics Network (link to record)
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 # IGL00885
Quality Score
Status
Chromosome 1
Chromosomal Location 16171519-16174657 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 16172807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 171 (S171A)
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 possibly damaging
Transcript: ENSMUST00000058437
AA Change: S171A

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000071616
Gene: ENSMUSG00000043716
AA Change: S171A

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: S196A
SMART Domains Protein: ENSMUSP00000118695
Gene: ENSMUSG00000043716
AA Change: S196A

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 A T 17: 43,025,206 (GRCm39) probably benign Het
Adora2a T G 10: 75,169,285 (GRCm39) F250V probably damaging Het
Atp8b5 T C 4: 43,355,567 (GRCm39) S516P probably damaging Het
Btbd16 A G 7: 130,390,552 (GRCm39) I150V probably damaging Het
Capn13 A T 17: 73,646,420 (GRCm39) I331N possibly damaging Het
Capzb A G 4: 139,014,361 (GRCm39) S233G probably benign Het
Clasp2 A G 9: 113,740,484 (GRCm39) R1171G probably damaging Het
Col16a1 T G 4: 129,990,703 (GRCm39) I1419S probably damaging Het
Coro7 T A 16: 4,452,890 (GRCm39) Y286F probably benign Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Cyp11b2 T C 15: 74,725,364 (GRCm39) T252A probably benign Het
Daam1 T A 12: 71,990,865 (GRCm39) C160S unknown Het
Ephx4 T C 5: 107,553,991 (GRCm39) probably benign Het
Fbxo47 A T 11: 97,768,946 (GRCm39) D63E probably benign Het
Fgf3 A T 7: 144,394,521 (GRCm39) probably benign Het
Fstl4 C T 11: 53,039,809 (GRCm39) T331I possibly damaging Het
Gpr158 T C 2: 21,653,832 (GRCm39) F467S probably damaging Het
Igfbpl1 C T 4: 45,826,478 (GRCm39) V106I probably damaging Het
Ikzf2 T C 1: 69,578,481 (GRCm39) T271A possibly damaging Het
Kat14 T A 2: 144,236,175 (GRCm39) N302K probably benign Het
Kmt2c G T 5: 25,614,169 (GRCm39) Q184K possibly damaging Het
Moxd2 A G 6: 40,861,113 (GRCm39) probably benign Het
Nbeal2 C A 9: 110,467,729 (GRCm39) E479D probably damaging Het
Neo1 A G 9: 58,795,746 (GRCm39) L1231P probably damaging Het
Nfatc3 C T 8: 106,825,809 (GRCm39) P620L probably damaging Het
Nol9 T C 4: 152,126,057 (GRCm39) F253L probably damaging Het
Nutm2 T A 13: 50,628,896 (GRCm39) S653R probably benign Het
Or2n1e A C 17: 38,585,790 (GRCm39) I43L probably benign Het
Or9i16 A T 19: 13,865,532 (GRCm39) M14K probably benign Het
Plcg1 A G 2: 160,600,003 (GRCm39) D921G probably benign Het
Plpp4 A T 7: 128,923,257 (GRCm39) I101F probably damaging Het
Psg17 A T 7: 18,554,091 (GRCm39) L53Q probably damaging Het
Ptpn4 A T 1: 119,730,093 (GRCm39) I20N possibly damaging Het
R3hdm1 A T 1: 128,164,175 (GRCm39) I1030L probably damaging Het
Snx25 G A 8: 46,491,513 (GRCm39) T859M probably damaging Het
Spata31e5 T C 1: 28,815,926 (GRCm39) E702G unknown Het
Tmem94 A G 11: 115,686,154 (GRCm39) M990V probably damaging Het
Tnnt2 A G 1: 135,774,502 (GRCm39) probably benign Het
Ttn T C 2: 76,540,029 (GRCm39) H34319R possibly damaging Het
Vmn1r72 A G 7: 11,404,424 (GRCm39) V8A probably benign Het
Zbtb41 A G 1: 139,358,062 (GRCm39) T457A probably benign Het
Other mutations in Rpl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-04-17