Incidental Mutation 'IGL01776:Mrps35'
| ID |
153868 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrps35
|
| Ensembl Gene |
ENSMUSG00000040112 |
| Gene Name |
mitochondrial ribosomal protein S35 |
| Synonyms |
MDSO23, MRPS28, MRP-S28 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
IGL01776
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
146944270-146972399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 146972214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 286
(V286I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048348
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036111]
[ENSMUST00000100780]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036111
AA Change: V286I
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000048348
Gene: ENSMUSG00000040112
AA Change: V286I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRP-S28
|
138 |
262 |
2.5e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100780
|
| SMART Domains |
Protein: ENSMUSP00000098343
Gene: ENSMUSG00000072662
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
MANEC
|
24 |
113 |
5.4e-34 |
SMART |
|
low complexity region
|
263 |
274 |
N/A |
INTRINSIC |
|
transmembrane domain
|
284 |
306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143204
|
| 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 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
G |
A |
5: 90,431,223 (GRCm39) |
Q854* |
probably null |
Het |
| Armc8 |
A |
G |
9: 99,408,936 (GRCm39) |
|
probably benign |
Het |
| Chrna7 |
A |
G |
7: 62,749,267 (GRCm39) |
V405A |
probably benign |
Het |
| Col8a2 |
C |
A |
4: 126,203,598 (GRCm39) |
|
probably benign |
Het |
| Dcn |
A |
G |
10: 97,330,938 (GRCm39) |
I91V |
possibly damaging |
Het |
| Dock7 |
T |
A |
4: 98,829,178 (GRCm39) |
R2069S |
possibly damaging |
Het |
| Gm7247 |
A |
G |
14: 51,759,356 (GRCm39) |
S112G |
possibly damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,547,789 (GRCm39) |
T2721P |
possibly damaging |
Het |
| Hsd3b3 |
T |
C |
3: 98,651,163 (GRCm39) |
T96A |
probably benign |
Het |
| Ifi207 |
G |
A |
1: 173,552,610 (GRCm39) |
L936F |
probably damaging |
Het |
| Kcp |
G |
A |
6: 29,497,907 (GRCm39) |
P477S |
probably damaging |
Het |
| Mei1 |
T |
C |
15: 81,980,133 (GRCm39) |
|
probably null |
Het |
| Mgmt |
T |
A |
7: 136,723,293 (GRCm39) |
L121* |
probably null |
Het |
| Naxd |
T |
C |
8: 11,555,525 (GRCm39) |
|
probably null |
Het |
| Pam |
A |
G |
1: 97,813,325 (GRCm39) |
|
probably null |
Het |
| Plcxd1 |
G |
A |
5: 110,249,246 (GRCm39) |
|
probably benign |
Het |
| Rasgrp1 |
A |
G |
2: 117,117,321 (GRCm39) |
|
probably null |
Het |
| Spag9 |
C |
T |
11: 94,007,553 (GRCm39) |
|
probably benign |
Het |
| Spire2 |
T |
C |
8: 124,086,131 (GRCm39) |
S288P |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,504,465 (GRCm39) |
V322A |
probably benign |
Het |
| Syt17 |
A |
C |
7: 118,009,176 (GRCm39) |
L343R |
probably damaging |
Het |
| Tap1 |
G |
A |
17: 34,412,102 (GRCm39) |
V436I |
possibly damaging |
Het |
| Virma |
C |
T |
4: 11,527,792 (GRCm39) |
R1228C |
probably 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 |
|
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 |
|
R6682:Mrps35
|
UTSW |
6 |
146,949,777 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation