Incidental Mutation 'R7071:Mrps5'
| ID |
548894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrps5
|
| Ensembl Gene |
ENSMUSG00000027374 |
| Gene Name |
mitochondrial ribosomal protein S5 |
| Synonyms |
|
| MMRRC Submission |
045167-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7071 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
127429346-127445906 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 127442772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 280
(Y280*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028852
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028852]
|
| AlphaFold |
Q99N87 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028852
AA Change: Y280*
|
| SMART Domains |
Protein: ENSMUSP00000028852
Gene: ENSMUSG00000027374
AA Change: Y280*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
108 |
126 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_S5
|
220 |
285 |
3.5e-20 |
PFAM |
|
Pfam:Ribosomal_S5_C
|
297 |
368 |
4.7e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129066
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134101
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145271
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
95% (41/43) |
| 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 that belongs to the ribosomal protein S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,449,503 (GRCm39) |
Q854* |
probably null |
Het |
| Arl2bp |
G |
T |
8: 95,393,794 (GRCm39) |
|
probably benign |
Het |
| Astl |
T |
C |
2: 127,187,885 (GRCm39) |
M121T |
probably benign |
Het |
| Atrip |
T |
C |
9: 108,896,082 (GRCm39) |
|
probably null |
Het |
| Camk1g |
A |
T |
1: 193,042,117 (GRCm39) |
V44E |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,866,455 (GRCm39) |
H804R |
probably benign |
Het |
| Cd300a |
T |
C |
11: 114,792,099 (GRCm39) |
S314P |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,484,577 (GRCm39) |
I440L |
possibly damaging |
Het |
| Cfap61 |
T |
G |
2: 145,843,832 (GRCm39) |
I306R |
probably benign |
Het |
| Cnot10 |
T |
C |
9: 114,446,787 (GRCm39) |
|
probably null |
Het |
| Cntln |
T |
A |
4: 85,018,622 (GRCm39) |
L76Q |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,204,795 (GRCm39) |
C636R |
probably benign |
Het |
| Dnm3 |
A |
T |
1: 161,847,412 (GRCm39) |
H148Q |
probably damaging |
Het |
| Dot1l |
T |
A |
10: 80,628,079 (GRCm39) |
L1039Q |
probably benign |
Het |
| Faiml |
T |
A |
9: 99,118,400 (GRCm39) |
M1L |
unknown |
Het |
| Fat1 |
T |
G |
8: 45,442,145 (GRCm39) |
I1149S |
possibly damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gm11938 |
A |
T |
11: 99,493,910 (GRCm39) |
C62S |
probably damaging |
Het |
| Gtf2i |
A |
G |
5: 134,292,475 (GRCm39) |
L423S |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,479,853 (GRCm39) |
C4582S |
probably damaging |
Het |
| Ifitm3 |
A |
G |
7: 140,590,437 (GRCm39) |
V41A |
probably benign |
Het |
| Ipo11 |
T |
A |
13: 107,061,604 (GRCm39) |
S19C |
probably damaging |
Het |
| Khsrp |
C |
A |
17: 57,332,386 (GRCm39) |
M268I |
possibly damaging |
Het |
| Lrp1b |
T |
G |
2: 41,298,276 (GRCm39) |
D1036A |
|
Het |
| Mecom |
T |
G |
3: 30,034,857 (GRCm39) |
H273P |
probably damaging |
Het |
| Mfn1 |
G |
A |
3: 32,622,544 (GRCm39) |
V601I |
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,714,653 (GRCm39) |
T811A |
probably damaging |
Het |
| Ndfip2 |
A |
C |
14: 105,539,760 (GRCm39) |
N292H |
possibly damaging |
Het |
| Or2ak5 |
C |
A |
11: 58,610,984 (GRCm39) |
V297F |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,916,747 (GRCm39) |
C895S |
probably damaging |
Het |
| Pacs1 |
A |
T |
19: 5,206,402 (GRCm39) |
I261N |
possibly damaging |
Het |
| Pira13 |
A |
G |
7: 3,824,667 (GRCm39) |
S573P |
unknown |
Het |
| Ptprn |
A |
T |
1: 75,237,263 (GRCm39) |
M113K |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,473,807 (GRCm39) |
H445R |
probably damaging |
Het |
| Ranbp2 |
T |
G |
10: 58,328,659 (GRCm39) |
F2853V |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,636,277 (GRCm39) |
F647Y |
unknown |
Het |
| Stt3b |
T |
C |
9: 115,083,085 (GRCm39) |
Y449C |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,978,855 (GRCm39) |
D455G |
probably benign |
Het |
| Zfp451 |
A |
C |
1: 33,815,825 (GRCm39) |
D708E |
possibly damaging |
Het |
| Zfp456 |
T |
C |
13: 67,520,896 (GRCm39) |
E33G |
probably damaging |
Het |
| Zfp599 |
T |
C |
9: 22,169,392 (GRCm39) |
T27A |
probably benign |
Het |
|
| Other mutations in Mrps5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01968:Mrps5
|
APN |
2 |
127,433,827 (GRCm39) |
missense |
probably null |
0.01 |
|
IGL03348:Mrps5
|
APN |
2 |
127,443,305 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0369:Mrps5
|
UTSW |
2 |
127,433,749 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0485:Mrps5
|
UTSW |
2 |
127,433,745 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0622:Mrps5
|
UTSW |
2 |
127,436,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1954:Mrps5
|
UTSW |
2 |
127,438,817 (GRCm39) |
splice site |
probably null |
|
|
R2182:Mrps5
|
UTSW |
2 |
127,444,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3414:Mrps5
|
UTSW |
2 |
127,438,832 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4007:Mrps5
|
UTSW |
2 |
127,433,755 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4687:Mrps5
|
UTSW |
2 |
127,432,690 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4780:Mrps5
|
UTSW |
2 |
127,440,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4835:Mrps5
|
UTSW |
2 |
127,445,627 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4851:Mrps5
|
UTSW |
2 |
127,432,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5076:Mrps5
|
UTSW |
2 |
127,442,772 (GRCm39) |
nonsense |
probably null |
|
|
R5558:Mrps5
|
UTSW |
2 |
127,444,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6192:Mrps5
|
UTSW |
2 |
127,443,305 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7038:Mrps5
|
UTSW |
2 |
127,442,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7103:Mrps5
|
UTSW |
2 |
127,443,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7177:Mrps5
|
UTSW |
2 |
127,437,617 (GRCm39) |
missense |
probably benign |
|
|
R7319:Mrps5
|
UTSW |
2 |
127,437,762 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7387:Mrps5
|
UTSW |
2 |
127,442,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7460:Mrps5
|
UTSW |
2 |
127,433,811 (GRCm39) |
missense |
not run |
|
|
R8211:Mrps5
|
UTSW |
2 |
127,445,644 (GRCm39) |
missense |
probably benign |
|
|
R9052:Mrps5
|
UTSW |
2 |
127,433,876 (GRCm39) |
splice site |
probably benign |
|
|
R9358:Mrps5
|
UTSW |
2 |
127,437,734 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTGACTTAAAGGTTGAACCAAC -3'
(R):5'- TGCAGACCTCAGGACAAATG -3'
Sequencing Primer
(F):5'- GGTCTCTCTAAATAGCCCTAGAACTC -3'
(R):5'- ATGACACGGTCTGCAGTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation