Incidental Mutation 'R5242:Rps7'
ID 400942
Institutional Source Beutler Lab
Gene Symbol Rps7
Ensembl Gene ENSMUSG00000061477
Gene Name ribosomal protein S7
Synonyms Mtu, S7
MMRRC Submission 042813-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R5242 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 28680853-28685952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28681136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 188 (E188D)
Ref Sequence ENSEMBL: ENSMUSP00000152456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074267] [ENSMUST00000221871]
AlphaFold P62082
Predicted Effect probably benign
Transcript: ENSMUST00000074267
AA Change: E188D

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000073880
Gene: ENSMUSG00000061477
AA Change: E188D

DomainStartEndE-ValueType
Pfam:Ribosomal_S7e 7 191 2e-96 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220860
Predicted Effect probably benign
Transcript: ENSMUST00000221871
AA Change: E188D

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
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: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
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 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 T C 8: 84,657,711 (GRCm39) V439A possibly damaging Het
Aldh6a1 A G 12: 84,483,157 (GRCm39) V390A probably damaging Het
Alox5 T C 6: 116,437,927 (GRCm39) D20G probably damaging Het
Atp2a2 A T 5: 122,600,009 (GRCm39) F487I probably damaging Het
BC048679 G A 7: 81,145,091 (GRCm39) T84M probably damaging Het
C2cd3 T C 7: 100,039,373 (GRCm39) S191P probably benign Het
Cdh6 A G 15: 13,064,497 (GRCm39) V131A probably benign Het
Chrna9 A G 5: 66,134,423 (GRCm39) T425A probably benign Het
Cplane2 T C 4: 140,947,158 (GRCm39) Y180H probably damaging Het
Ddx39a A G 8: 84,448,440 (GRCm39) S231G probably benign Het
Diaph1 C T 18: 37,984,688 (GRCm39) G1176R probably damaging Het
Dnah10 G T 5: 124,864,484 (GRCm39) V2230L probably benign Het
Foxo1 T C 3: 52,176,676 (GRCm39) S152P probably damaging Het
Fras1 T A 5: 96,805,109 (GRCm39) D1250E probably benign Het
G6pd2 A G 5: 61,966,785 (GRCm39) I187V probably benign Het
Gm10113 T C 13: 46,330,992 (GRCm39) noncoding transcript Het
Hoxd1 A G 2: 74,593,792 (GRCm39) D116G probably damaging Het
Igkv13-85 A T 6: 68,907,544 (GRCm39) I19K probably benign Het
Jag2 C T 12: 112,880,486 (GRCm39) V288M probably damaging Het
Ndrg2 A G 14: 52,148,541 (GRCm39) probably null Het
Neurl3 G A 1: 36,308,501 (GRCm39) Q104* probably null Het
Nudt16l1 C T 16: 4,757,485 (GRCm39) R133W probably damaging Het
Oasl2 A T 5: 115,043,122 (GRCm39) Q298L possibly damaging Het
Or3a10 A T 11: 73,935,848 (GRCm39) M84K possibly damaging Het
Or51a25 C T 7: 102,373,483 (GRCm39) M71I probably benign Het
Pnma2 C A 14: 67,153,746 (GRCm39) Q57K probably benign Het
Pramel22 A T 4: 143,382,181 (GRCm39) L172I probably benign Het
Rrp1b T C 17: 32,270,677 (GRCm39) V212A possibly damaging Het
Serpina9 C A 12: 103,974,644 (GRCm39) A170S probably benign Het
Shmt2 C T 10: 127,354,789 (GRCm39) V299I probably benign Het
Siae C T 9: 37,556,148 (GRCm39) P435S probably damaging Het
Smarcal1 T C 1: 72,630,242 (GRCm39) S99P probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Stimate T A 14: 30,547,793 (GRCm39) F36I probably damaging Het
Tas2r124 T C 6: 132,732,503 (GRCm39) Y271H possibly damaging Het
Thsd7a A T 6: 12,327,582 (GRCm39) I1430K probably damaging Het
Trmt9b A G 8: 36,979,084 (GRCm39) K229R probably benign Het
Tsc22d2 T A 3: 58,323,360 (GRCm39) V84E possibly damaging Het
Ube2s C T 7: 4,813,434 (GRCm39) R110Q possibly damaging Het
Usp3 C T 9: 66,434,432 (GRCm39) C283Y probably damaging Het
Vmn2r81 T A 10: 79,129,309 (GRCm39) Y733* probably null Het
Wdr75 T A 1: 45,856,487 (GRCm39) C503* probably null Het
Zfp764 T C 7: 127,004,541 (GRCm39) M197V probably benign Het
Other mutations in Rps7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0333:Rps7 UTSW 12 28,681,200 (GRCm39) splice site probably benign
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
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'- TCTGTTTCACAGCAGCAGAATG -3'
(R):5'- CCTCAGTGTTGGGATTAGGC -3'

Sequencing Primer
(F):5'- CATATCAACATGACTGGCTTCAG -3'
(R):5'- CTTGTGCCCAGGTCAAACATTG -3'
Posted On 2016-07-06