Incidental Mutation 'R6682:Mrps35'
| ID |
527541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrps35
|
| Ensembl Gene |
ENSMUSG00000040112 |
| Gene Name |
mitochondrial ribosomal protein S35 |
| Synonyms |
MDSO23, MRPS28, MRP-S28 |
| MMRRC Submission |
044801-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R6682 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
146944270-146972399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 146949777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 97
(E97V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048348
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036111]
[ENSMUST00000137556]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036111
AA Change: E97V
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048348
Gene: ENSMUSG00000040112
AA Change: E97V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRP-S28
|
138 |
262 |
2.5e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137556
AA Change: E53V
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149660
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| 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 that has had confusing nomenclature in the literature. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 3p, 5q, and 10q. [provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aspm |
T |
C |
1: 139,385,460 (GRCm39) |
V368A |
possibly damaging |
Het |
| Bcl9l |
A |
G |
9: 44,412,400 (GRCm39) |
T92A |
possibly damaging |
Het |
| Celsr2 |
A |
T |
3: 108,307,817 (GRCm39) |
|
probably null |
Het |
| Cndp2 |
T |
C |
18: 84,695,455 (GRCm39) |
K149E |
probably benign |
Het |
| Cnpy4 |
T |
C |
5: 138,185,984 (GRCm39) |
|
probably null |
Het |
| Cox6c |
A |
T |
15: 35,938,319 (GRCm39) |
|
probably null |
Het |
| Cpt2 |
G |
T |
4: 107,761,627 (GRCm39) |
S158R |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 71,094,118 (GRCm39) |
K813R |
probably damaging |
Het |
| Dock10 |
A |
C |
1: 80,490,338 (GRCm39) |
L1927R |
probably damaging |
Het |
| Gak |
T |
A |
5: 108,746,742 (GRCm39) |
K430I |
probably damaging |
Het |
| Grik3 |
T |
A |
4: 125,544,259 (GRCm39) |
Y327N |
probably damaging |
Het |
| Ldb3 |
T |
A |
14: 34,274,221 (GRCm39) |
T334S |
possibly damaging |
Het |
| Ldlr |
A |
G |
9: 21,643,671 (GRCm39) |
D85G |
probably benign |
Het |
| Med26 |
T |
A |
8: 73,249,927 (GRCm39) |
T391S |
probably benign |
Het |
| Mmp27 |
A |
G |
9: 7,573,606 (GRCm39) |
T233A |
probably benign |
Het |
| Mob1a |
A |
G |
6: 83,311,132 (GRCm39) |
Y117C |
possibly damaging |
Het |
| Msln |
A |
T |
17: 25,971,993 (GRCm39) |
S75T |
probably damaging |
Het |
| Myoz1 |
C |
T |
14: 20,703,687 (GRCm39) |
|
probably null |
Het |
| Nim1k |
A |
G |
13: 120,173,724 (GRCm39) |
I390T |
probably benign |
Het |
| Or10k2 |
A |
G |
8: 84,268,187 (GRCm39) |
H138R |
probably benign |
Het |
| Or4k51 |
C |
T |
2: 111,584,980 (GRCm39) |
P129S |
probably damaging |
Het |
| Pclo |
A |
C |
5: 14,589,893 (GRCm39) |
Q731P |
unknown |
Het |
| Prl3d3 |
G |
A |
13: 27,345,023 (GRCm39) |
E132K |
probably benign |
Het |
| Pth1r |
C |
T |
9: 110,556,319 (GRCm39) |
|
probably null |
Het |
| Ptpru |
T |
C |
4: 131,548,093 (GRCm39) |
M135V |
probably benign |
Het |
| Slc12a9 |
A |
T |
5: 137,325,663 (GRCm39) |
L316Q |
probably damaging |
Het |
| Slc35f6 |
G |
A |
5: 30,814,764 (GRCm39) |
M177I |
possibly damaging |
Het |
| Smc4 |
T |
A |
3: 68,914,574 (GRCm39) |
S62R |
probably damaging |
Het |
| Tmem179 |
C |
T |
12: 112,469,714 (GRCm39) |
D29N |
probably benign |
Het |
| Togaram2 |
A |
T |
17: 72,011,749 (GRCm39) |
D476V |
probably benign |
Het |
| Trpc4ap |
C |
T |
2: 155,479,687 (GRCm39) |
|
probably null |
Het |
| Trpm8 |
C |
A |
1: 88,254,224 (GRCm39) |
T149K |
probably damaging |
Het |
| Uhmk1 |
C |
T |
1: 170,039,804 (GRCm39) |
|
probably null |
Het |
| Vmn2r79 |
C |
A |
7: 86,653,370 (GRCm39) |
T545K |
possibly damaging |
Het |
| Vmn2r95 |
C |
A |
17: 18,660,489 (GRCm39) |
N300K |
probably damaging |
Het |
| Wdr41 |
G |
A |
13: 95,149,639 (GRCm39) |
G419D |
probably damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,302,130 (GRCm39) |
H597Q |
probably benign |
Het |
| Zfp704 |
T |
C |
3: 9,630,253 (GRCm39) |
E36G |
probably benign |
Het |
| Zfp9 |
A |
G |
6: 118,444,202 (GRCm39) |
V47A |
possibly damaging |
Het |
|
| Other mutations in Mrps35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00912:Mrps35
|
APN |
6 |
146,957,419 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01776:Mrps35
|
APN |
6 |
146,972,214 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02134:Mrps35
|
APN |
6 |
146,949,808 (GRCm39) |
splice site |
probably benign |
|
|
IGL03382:Mrps35
|
APN |
6 |
146,951,373 (GRCm39) |
nonsense |
probably null |
|
|
R0600:Mrps35
|
UTSW |
6 |
146,972,232 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0648:Mrps35
|
UTSW |
6 |
146,957,443 (GRCm39) |
nonsense |
probably null |
|
|
R1466:Mrps35
|
UTSW |
6 |
146,957,482 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1466:Mrps35
|
UTSW |
6 |
146,957,482 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1584:Mrps35
|
UTSW |
6 |
146,957,482 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1655:Mrps35
|
UTSW |
6 |
146,961,726 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2018:Mrps35
|
UTSW |
6 |
146,962,982 (GRCm39) |
nonsense |
probably null |
|
|
R2257:Mrps35
|
UTSW |
6 |
146,972,125 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4989:Mrps35
|
UTSW |
6 |
146,961,645 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5174:Mrps35
|
UTSW |
6 |
146,961,709 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5453:Mrps35
|
UTSW |
6 |
146,972,115 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7181:Mrps35
|
UTSW |
6 |
146,957,491 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7409:Mrps35
|
UTSW |
6 |
146,957,481 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8132:Mrps35
|
UTSW |
6 |
146,949,661 (GRCm39) |
missense |
probably benign |
|
|
X0066:Mrps35
|
UTSW |
6 |
146,972,218 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACCTTTCTCAGTTCCTCAG -3'
(R):5'- GAGAAGCCACAGGATTGACC -3'
Sequencing Primer
(F):5'- CAGTTCCTCAGTCTTTGAAATATGG -3'
(R):5'- GACTCTAAGTCTTCTTTACCATGAAC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation