Incidental Mutation 'IGL01134:Mrps9'
| ID |
50327 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrps9
|
| Ensembl Gene |
ENSMUSG00000060679 |
| Gene Name |
mitochondrial ribosomal protein S9 |
| Synonyms |
2310002A08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.895)
|
| Stock # |
IGL01134
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
42890393-42944843 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42942557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 338
(I338M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057208]
|
| AlphaFold |
Q9D7N3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057208
AA Change: I338M
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000056855
Gene: ENSMUSG00000060679
AA Change: I338M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
207 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_S9
|
268 |
390 |
7.3e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185376
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187414
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201108
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202358
|
| 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. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Acaca |
T |
G |
11: 84,142,105 (GRCm39) |
H637Q |
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Akap6 |
C |
A |
12: 52,984,000 (GRCm39) |
A848E |
probably damaging |
Het |
| Cxxc4 |
A |
G |
3: 133,946,420 (GRCm39) |
I334V |
probably null |
Het |
| Cyp2b13 |
T |
A |
7: 25,781,125 (GRCm39) |
I179N |
probably damaging |
Het |
| Cyp2d40 |
C |
A |
15: 82,645,102 (GRCm39) |
A183S |
unknown |
Het |
| Cyp2g1 |
A |
G |
7: 26,509,256 (GRCm39) |
N110S |
probably benign |
Het |
| F5 |
A |
T |
1: 164,019,548 (GRCm39) |
R674S |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,419,810 (GRCm39) |
Y155* |
probably null |
Het |
| Fut9 |
G |
T |
4: 25,620,446 (GRCm39) |
Q123K |
probably benign |
Het |
| Gda |
A |
G |
19: 21,394,429 (GRCm39) |
S143P |
probably damaging |
Het |
| Gpr162 |
T |
C |
6: 124,835,820 (GRCm39) |
|
probably null |
Het |
| Hsf2bp |
A |
G |
17: 32,206,378 (GRCm39) |
L251S |
probably damaging |
Het |
| Hsh2d |
A |
T |
8: 72,947,375 (GRCm39) |
D24V |
probably damaging |
Het |
| Htr1f |
T |
A |
16: 64,746,501 (GRCm39) |
T264S |
probably benign |
Het |
| Med12l |
G |
A |
3: 58,949,696 (GRCm39) |
E151K |
possibly damaging |
Het |
| Mgat3 |
C |
A |
15: 80,096,377 (GRCm39) |
N401K |
probably benign |
Het |
| Mmp27 |
T |
G |
9: 7,573,298 (GRCm39) |
M130R |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,944,634 (GRCm39) |
S412T |
probably benign |
Het |
| Mtmr4 |
C |
T |
11: 87,494,893 (GRCm39) |
T395M |
probably damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,757,112 (GRCm39) |
I116M |
probably benign |
Het |
| Nqo1 |
T |
C |
8: 108,115,587 (GRCm39) |
D230G |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,589,889 (GRCm39) |
V795I |
probably benign |
Het |
| Pde8a |
G |
A |
7: 80,968,826 (GRCm39) |
R449Q |
possibly damaging |
Het |
| Scn9a |
A |
G |
2: 66,335,312 (GRCm39) |
Y1226H |
probably damaging |
Het |
| Sema3e |
A |
G |
5: 14,302,784 (GRCm39) |
R770G |
probably damaging |
Het |
| Smr2 |
T |
C |
5: 88,256,378 (GRCm39) |
S19P |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,849 (GRCm39) |
S2529P |
probably benign |
Het |
| Uspl1 |
T |
A |
5: 149,141,103 (GRCm39) |
F367L |
probably damaging |
Het |
| Vps41 |
A |
G |
13: 19,050,320 (GRCm39) |
S838G |
probably benign |
Het |
| Ythdf2 |
A |
T |
4: 131,932,789 (GRCm39) |
F124I |
probably damaging |
Het |
|
| Other mutations in Mrps9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00897:Mrps9
|
APN |
1 |
42,944,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01557:Mrps9
|
APN |
1 |
42,890,510 (GRCm39) |
missense |
probably benign |
|
|
IGL02541:Mrps9
|
APN |
1 |
42,901,814 (GRCm39) |
splice site |
probably null |
|
|
PIT4402001:Mrps9
|
UTSW |
1 |
42,935,258 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0598:Mrps9
|
UTSW |
1 |
42,944,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1718:Mrps9
|
UTSW |
1 |
42,942,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4195:Mrps9
|
UTSW |
1 |
42,940,254 (GRCm39) |
intron |
probably benign |
|
|
R4196:Mrps9
|
UTSW |
1 |
42,940,254 (GRCm39) |
intron |
probably benign |
|
|
R4695:Mrps9
|
UTSW |
1 |
42,901,675 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4840:Mrps9
|
UTSW |
1 |
42,937,575 (GRCm39) |
intron |
probably benign |
|
|
R5033:Mrps9
|
UTSW |
1 |
42,934,491 (GRCm39) |
splice site |
probably null |
|
|
R5489:Mrps9
|
UTSW |
1 |
42,937,593 (GRCm39) |
splice site |
probably benign |
|
|
R5876:Mrps9
|
UTSW |
1 |
42,934,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6891:Mrps9
|
UTSW |
1 |
42,944,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7015:Mrps9
|
UTSW |
1 |
42,937,706 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7940:Mrps9
|
UTSW |
1 |
42,901,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8679:Mrps9
|
UTSW |
1 |
42,918,915 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9117:Mrps9
|
UTSW |
1 |
42,942,537 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1177:Mrps9
|
UTSW |
1 |
42,938,618 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2013-06-21 |
Incidental Mutation