Incidental Mutation 'IGL00487:Mrps7'
ID 4467
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps7
Ensembl Gene ENSMUSG00000046756
Gene Name mitchondrial ribosomal protein S7
Synonyms MRP-S7, Rpms7
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL00487
Quality Score
Status
Chromosome 11
Chromosomal Location 115494966-115498862 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115495684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 74 (I74T)
Ref Sequence ENSEMBL: ENSMUSP00000053033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019135] [ENSMUST00000021087] [ENSMUST00000058109] [ENSMUST00000106506] [ENSMUST00000106507] [ENSMUST00000106508] [ENSMUST00000125097] [ENSMUST00000148574] [ENSMUST00000156173]
AlphaFold Q80X85
Predicted Effect probably benign
Transcript: ENSMUST00000019135
SMART Domains Protein: ENSMUSP00000019135
Gene: ENSMUSG00000020740

DomainStartEndE-ValueType
VHS 9 142 9.36e-55 SMART
low complexity region 174 185 N/A INTRINSIC
Pfam:GAT 222 299 1.7e-20 PFAM
low complexity region 334 369 N/A INTRINSIC
low complexity region 383 395 N/A INTRINSIC
low complexity region 455 471 N/A INTRINSIC
low complexity region 483 498 N/A INTRINSIC
low complexity region 532 554 N/A INTRINSIC
Alpha_adaptinC2 586 710 6.09e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000021087
SMART Domains Protein: ENSMUSP00000021087
Gene: ENSMUSG00000020743

DomainStartEndE-ValueType
Pfam:MIF4G 4 205 1.4e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000058109
AA Change: I74T

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000053033
Gene: ENSMUSG00000046756
AA Change: I74T

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Ribosomal_S7 68 234 7.1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106506
SMART Domains Protein: ENSMUSP00000102115
Gene: ENSMUSG00000020743

DomainStartEndE-ValueType
Pfam:MIF4G 4 186 1.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106507
SMART Domains Protein: ENSMUSP00000102116
Gene: ENSMUSG00000020743

DomainStartEndE-ValueType
Pfam:MIF4G 4 204 3.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106508
SMART Domains Protein: ENSMUSP00000102117
Gene: ENSMUSG00000020740

DomainStartEndE-ValueType
VHS 9 142 9.36e-55 SMART
low complexity region 174 185 N/A INTRINSIC
Pfam:GAT 206 307 1.3e-32 PFAM
low complexity region 377 393 N/A INTRINSIC
low complexity region 405 420 N/A INTRINSIC
low complexity region 454 476 N/A INTRINSIC
Alpha_adaptinC2 508 632 6.09e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146244
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142637
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148782
Predicted Effect probably benign
Transcript: ENSMUST00000125097
SMART Domains Protein: ENSMUSP00000118024
Gene: ENSMUSG00000020740

DomainStartEndE-ValueType
Pfam:VHS 3 106 3.4e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148574
SMART Domains Protein: ENSMUSP00000119643
Gene: ENSMUSG00000020743

DomainStartEndE-ValueType
Pfam:MIF4G 4 162 1.3e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158851
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149814
Predicted Effect probably benign
Transcript: ENSMUST00000156173
SMART Domains Protein: ENSMUSP00000138597
Gene: ENSMUSG00000020740

DomainStartEndE-ValueType
VHS 9 142 9.36e-55 SMART
low complexity region 174 185 N/A INTRINSIC
Pfam:GAT 206 307 7.3e-32 PFAM
low complexity region 334 369 N/A INTRINSIC
low complexity region 383 395 N/A INTRINSIC
low complexity region 455 471 N/A INTRINSIC
low complexity region 483 498 N/A INTRINSIC
low complexity region 532 554 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,200,276 (GRCm39) probably null Het
Cfap251 T G 5: 123,412,240 (GRCm39) I84S probably damaging Het
Dusp23 T C 1: 172,459,199 (GRCm39) probably benign Het
Invs C T 4: 48,407,689 (GRCm39) Q555* probably null Het
Mak16 T C 8: 31,656,778 (GRCm39) N9D probably benign Het
Nlrp4a T G 7: 26,149,410 (GRCm39) V339G possibly damaging Het
Nucb1 A G 7: 45,151,075 (GRCm39) L102P probably damaging Het
Pdp2 T C 8: 105,320,829 (GRCm39) M226T probably benign Het
Pik3r2 T C 8: 71,223,073 (GRCm39) D449G probably damaging Het
Rnf157 G A 11: 116,253,181 (GRCm39) P76S probably benign Het
Senp6 C A 9: 80,021,120 (GRCm39) Q267K probably damaging Het
Slc9a2 A G 1: 40,781,818 (GRCm39) E349G probably damaging Het
Snx14 G T 9: 88,284,243 (GRCm39) S475Y probably damaging Het
Vmn1r180 A T 7: 23,651,948 (GRCm39) H37L probably benign Het
Xrn1 A T 9: 95,921,002 (GRCm39) H1371L probably benign Het
Other mutations in Mrps7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02928:Mrps7 APN 11 115,495,910 (GRCm39) nonsense probably null
R1494:Mrps7 UTSW 11 115,494,952 (GRCm39) unclassified probably benign
R1501:Mrps7 UTSW 11 115,495,023 (GRCm39) missense probably benign 0.00
R1651:Mrps7 UTSW 11 115,495,581 (GRCm39) nonsense probably null
R1830:Mrps7 UTSW 11 115,497,811 (GRCm39) missense probably benign 0.01
R2895:Mrps7 UTSW 11 115,495,865 (GRCm39) missense probably benign 0.01
R5155:Mrps7 UTSW 11 115,495,655 (GRCm39) nonsense probably null
R6076:Mrps7 UTSW 11 115,495,713 (GRCm39) missense probably damaging 0.99
R6144:Mrps7 UTSW 11 115,495,000 (GRCm39) missense probably benign 0.43
R6180:Mrps7 UTSW 11 115,495,707 (GRCm39) missense possibly damaging 0.95
R7421:Mrps7 UTSW 11 115,495,717 (GRCm39) missense probably benign 0.22
R7541:Mrps7 UTSW 11 115,497,696 (GRCm39) missense probably damaging 0.97
R7697:Mrps7 UTSW 11 115,495,701 (GRCm39) missense probably benign 0.00
R7981:Mrps7 UTSW 11 115,497,687 (GRCm39) missense possibly damaging 0.52
Posted On 2012-04-20