Incidental Mutation 'R7421:Mrps7'
ID 575681
Institutional Source Beutler Lab
Gene Symbol Mrps7
Ensembl Gene ENSMUSG00000046756
Gene Name mitchondrial ribosomal protein S7
Synonyms MRP-S7, Rpms7
MMRRC Submission 045499-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R7421 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 115494966-115498862 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115495717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 85 (V85A)
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 probably benign
Transcript: ENSMUST00000058109
AA Change: V85A

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000053033
Gene: ENSMUSG00000046756
AA Change: V85A

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 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 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
Meta Mutation Damage Score 0.1162 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aar2 T C 2: 156,397,915 (GRCm39) I309T possibly damaging Het
Abca12 A C 1: 71,286,295 (GRCm39) L2513* probably null Het
Abca13 G C 11: 9,460,463 (GRCm39) V4158L probably benign Het
Acaca A G 11: 84,254,562 (GRCm39) T1880A possibly damaging Het
Arhgap5 C T 12: 52,564,783 (GRCm39) R585C probably benign Het
Arsk A C 13: 76,210,634 (GRCm39) I471S possibly damaging Het
Asb7 T C 7: 66,309,868 (GRCm39) D116G probably damaging Het
Atad2 A G 15: 57,998,322 (GRCm39) S17P probably benign Het
Atf5 T C 7: 44,464,562 (GRCm39) E10G probably damaging Het
B3gntl1 G T 11: 121,515,004 (GRCm39) P255T probably benign Het
Cacna1s A G 1: 136,014,540 (GRCm39) N649S probably damaging Het
Ccnc A G 4: 21,743,291 (GRCm39) Y192C probably damaging Het
Cd28 A G 1: 60,802,459 (GRCm39) N126S probably benign Het
Cep57 A G 9: 13,721,969 (GRCm39) S360P possibly damaging Het
Ces1e C T 8: 93,941,703 (GRCm39) V257I probably benign Het
Chd1 A G 17: 15,969,660 (GRCm39) K913R probably benign Het
Cluap1 A T 16: 3,758,657 (GRCm39) D373V probably damaging Het
Cnmd T C 14: 79,882,947 (GRCm39) I160V probably benign Het
Col6a4 G A 9: 105,897,994 (GRCm39) P1686S probably damaging Het
Coro7 G T 16: 4,486,615 (GRCm39) A186E probably benign Het
Cuta T C 17: 27,158,431 (GRCm39) probably benign Het
Dnah2 G A 11: 69,383,631 (GRCm39) H1098Y probably benign Het
Duox1 T A 2: 122,153,711 (GRCm39) C345S probably damaging Het
Ephb4 T A 5: 137,352,687 (GRCm39) I90K possibly damaging Het
Erich3 T A 3: 154,439,198 (GRCm39) M280K probably damaging Het
Fcer2a T A 8: 3,740,335 (GRCm39) H4L probably benign Het
Grk1 A T 8: 13,455,316 (GRCm39) I67F probably damaging Het
Grm8 A C 6: 27,762,476 (GRCm39) S250A possibly damaging Het
H2-Q6 A G 17: 35,644,204 (GRCm39) E62G possibly damaging Het
Inppl1 C T 7: 101,482,144 (GRCm39) R144H probably damaging Het
Itga3 G T 11: 94,959,681 (GRCm39) P33Q probably benign Het
Itgax G A 7: 127,739,604 (GRCm39) S672N probably damaging Het
Itpk1 A T 12: 102,540,324 (GRCm39) V253E possibly damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Muc2 T C 7: 141,301,863 (GRCm39) L427P Het
Myef2 G T 2: 124,952,537 (GRCm39) Q185K probably benign Het
Or1e1b-ps1 G T 11: 73,846,335 (GRCm39) C273F unknown Het
Or4a76 T A 2: 89,460,915 (GRCm39) D109V probably damaging Het
Pcdh15 G A 10: 74,289,897 (GRCm39) M905I possibly damaging Het
Pgm5 C T 19: 24,686,663 (GRCm39) V515M probably benign Het
Pik3r1 A G 13: 101,825,644 (GRCm39) I381T probably damaging Het
Pla2g4f A G 2: 120,137,737 (GRCm39) M341T probably benign Het
Prmt2 A G 10: 76,056,912 (GRCm39) F204L probably benign Het
Pwwp3a T A 10: 80,068,587 (GRCm39) S244T probably benign Het
Rasa2 A G 9: 96,493,500 (GRCm39) V50A unknown Het
Scn7a A C 2: 66,505,876 (GRCm39) I1671S probably benign Het
Sco2 G A 15: 89,255,923 (GRCm39) R244C possibly damaging Het
Skic3 A T 13: 76,296,944 (GRCm39) K1100N probably benign Het
Slfn1 A G 11: 83,011,967 (GRCm39) M28V possibly damaging Het
Slfn9 A T 11: 82,872,197 (GRCm39) C846* probably null Het
Slfn9 A G 11: 82,878,562 (GRCm39) I189T probably damaging Het
Svil T A 18: 5,056,109 (GRCm39) S327R probably benign Het
Tcaf3 A T 6: 42,573,776 (GRCm39) N145K probably benign Het
Trarg1 G A 11: 76,585,051 (GRCm39) R147Q unknown Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Upp2 G T 2: 58,661,586 (GRCm39) V130F possibly damaging Het
Vnn3 G A 10: 23,741,666 (GRCm39) A324T probably benign Het
Wasf2 A G 4: 132,912,412 (GRCm39) E88G unknown Het
Zfp39 A T 11: 58,780,933 (GRCm39) C610S probably damaging Het
Other mutations in Mrps7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Mrps7 APN 11 115,495,684 (GRCm39) missense possibly damaging 0.78
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
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
Predicted Primers PCR Primer
(F):5'- GGAGTCACAGATTCACCCGTAG -3'
(R):5'- GCCAGAACTTTGTTGCCTCC -3'

Sequencing Primer
(F):5'- CGTAGGGTTCTGTCTGCTTCC -3'
(R):5'- TCCCTTCATCATCATGTTGGTG -3'
Posted On 2019-10-07