Incidental Mutation 'R0333:Rps7'
ID 38347
Institutional Source Beutler Lab
Gene Symbol Rps7
Ensembl Gene ENSMUSG00000061477
Gene Name ribosomal protein S7
Synonyms Mtu, S7
MMRRC Submission 038542-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R0333 (G1)
Quality Score 136
Status Validated
Chromosome 12
Chromosomal Location 28680853-28685952 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 28681200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074267] [ENSMUST00000221871]
AlphaFold P62082
Predicted Effect probably benign
Transcript: ENSMUST00000074267
SMART Domains Protein: ENSMUSP00000073880
Gene: ENSMUSG00000061477

DomainStartEndE-ValueType
Pfam:Ribosomal_S7e 7 191 2e-96 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220860
Predicted Effect probably benign
Transcript: ENSMUST00000221871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223318
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (53/53)
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 40S subunit. The protein belongs to the S7E family of ribosomal proteins. It is located in the cytoplasm. 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]
PHENOTYPE: Mice heterozygous for this ENU-induced mutation exhibit a white ventral patch and an extremely kinked or looped tail. Homozygotes exhibit an open hindbrain and defective neural crest production at E9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alas1 T C 9: 106,118,480 (GRCm39) N214S probably benign Het
Antxr1 A G 6: 87,165,820 (GRCm39) probably benign Het
Atxn7l3 A T 11: 102,185,818 (GRCm39) probably null Het
Cab39l A G 14: 59,737,060 (GRCm39) E60G probably damaging Het
Cdc5l G T 17: 45,704,142 (GRCm39) probably benign Het
Cux2 T C 5: 121,998,671 (GRCm39) E1423G probably benign Het
Dbndd1 G T 8: 124,233,512 (GRCm39) Q165K probably damaging Het
Drd1 C A 13: 54,208,082 (GRCm39) C37F probably damaging Het
Elp3 G A 14: 65,828,042 (GRCm39) P11L probably benign Het
F830045P16Rik A G 2: 129,314,777 (GRCm39) Y167H probably damaging Het
Gimap3 G A 6: 48,742,664 (GRCm39) Q89* probably null Het
H2ac25 C A 11: 58,845,685 (GRCm39) S41* probably null Het
Herc1 G A 9: 66,371,981 (GRCm39) probably null Het
Ipo11 A G 13: 107,007,271 (GRCm39) V603A probably benign Het
Kifap3 G A 1: 163,624,833 (GRCm39) A130T probably damaging Het
Klhl23 A G 2: 69,664,241 (GRCm39) Y530C probably damaging Het
Map4k1 C T 7: 28,699,186 (GRCm39) probably benign Het
Mroh2b T A 15: 4,960,600 (GRCm39) L778M probably damaging Het
Mtdh T C 15: 34,118,247 (GRCm39) S344P possibly damaging Het
Ncoa3 T G 2: 165,896,211 (GRCm39) N371K probably damaging Het
Ncor2 C A 5: 125,111,408 (GRCm39) probably benign Het
Nrn1l A G 8: 106,621,052 (GRCm39) E48G probably benign Het
Nudcd1 A G 15: 44,264,683 (GRCm39) I271T probably benign Het
Or1e17 A T 11: 73,831,593 (GRCm39) I174F possibly damaging Het
Or2t1 T C 14: 14,328,498 (GRCm38) L129P probably damaging Het
Pard3b A G 1: 62,269,371 (GRCm39) N653S probably benign Het
Plekhg1 A C 10: 3,914,419 (GRCm39) K1380N probably damaging Het
Ppara T A 15: 85,675,161 (GRCm39) I210N probably damaging Het
Ppp2r5b A G 19: 6,279,077 (GRCm39) probably benign Het
Prkn T C 17: 11,286,027 (GRCm39) F6L probably damaging Het
Prr14l A G 5: 32,985,337 (GRCm39) L1386P probably damaging Het
Ralgapa1 A G 12: 55,829,685 (GRCm39) probably benign Het
Reln A T 5: 22,134,240 (GRCm39) L2563I probably damaging Het
Rslcan18 T C 13: 67,246,686 (GRCm39) K309E probably damaging Het
Sec14l5 C T 16: 4,984,930 (GRCm39) T92M probably damaging Het
Slc22a8 G A 19: 8,585,514 (GRCm39) probably benign Het
Smad2 G A 18: 76,395,692 (GRCm39) A44T probably damaging Het
Smcr8 T C 11: 60,671,048 (GRCm39) V732A possibly damaging Het
Spata2l A G 8: 123,960,371 (GRCm39) F306S probably damaging Het
Stab2 T C 10: 86,677,491 (GRCm39) D2552G probably benign Het
Tctn3 A T 19: 40,595,711 (GRCm39) L358H possibly damaging Het
Tk2 C T 8: 104,975,146 (GRCm39) probably benign Het
Tm6sf2 C T 8: 70,530,564 (GRCm39) R215C probably damaging Het
Tmbim6 T C 15: 99,304,555 (GRCm39) I204T probably damaging Het
Tubgcp2 C A 7: 139,579,260 (GRCm39) W675C probably damaging Het
Usp48 T A 4: 137,321,794 (GRCm39) I62N probably damaging Het
Vmn2r74 T C 7: 85,601,491 (GRCm39) T716A probably benign Het
Vps13b C A 15: 35,879,949 (GRCm39) T3008K probably damaging Het
Wnk1 G A 6: 119,905,124 (GRCm39) probably benign Het
Other mutations in Rps7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1802:Rps7 UTSW 12 28,684,258 (GRCm39) missense probably benign 0.01
R1938:Rps7 UTSW 12 28,681,752 (GRCm39) missense possibly damaging 0.66
R5242:Rps7 UTSW 12 28,681,136 (GRCm39) missense probably benign 0.16
R6261:Rps7 UTSW 12 28,685,593 (GRCm39) missense possibly damaging 0.61
R8726:Rps7 UTSW 12 28,681,714 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- TTTCACAGCAGCAGAATGCCCC -3'
(R):5'- CCCCAAGTAGCTTGGTTTGAGAAGG -3'

Sequencing Primer
(F):5'- TCAAGAAGCTACTGCTGTCG -3'
(R):5'- GATCAGGCTGTAGAAGTCCTACC -3'
Posted On 2013-05-23