Incidental Mutation 'IGL01557:Mrps9'
| ID |
90743 |
| 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 # |
IGL01557
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
42890393-42944843 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42890510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 20
(V20A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057208]
|
| AlphaFold |
Q9D7N3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057208
AA Change: V20A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000056855
Gene: ENSMUSG00000060679
AA Change: V20A
| 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: ENSMUST00000188174
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,101,792 (GRCm39) |
|
probably null |
Het |
| Arl9 |
T |
G |
5: 77,151,948 (GRCm39) |
|
probably null |
Het |
| Ces3a |
C |
A |
8: 105,784,383 (GRCm39) |
T439K |
probably damaging |
Het |
| Cyp3a25 |
A |
G |
5: 145,921,711 (GRCm39) |
W408R |
probably damaging |
Het |
| Defb22 |
T |
G |
2: 152,327,999 (GRCm39) |
D62A |
possibly damaging |
Het |
| Dnah17 |
C |
T |
11: 117,964,512 (GRCm39) |
R2422Q |
probably damaging |
Het |
| Ehd3 |
A |
G |
17: 74,112,275 (GRCm39) |
K13R |
probably benign |
Het |
| Fndc1 |
T |
C |
17: 7,975,221 (GRCm39) |
E1406G |
probably damaging |
Het |
| Gak |
A |
C |
5: 108,732,203 (GRCm39) |
Y762D |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,923,522 (GRCm39) |
S1187P |
possibly damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,331,472 (GRCm39) |
E68G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,060,474 (GRCm39) |
T2448A |
probably damaging |
Het |
| Lrrk2 |
T |
G |
15: 91,584,192 (GRCm39) |
C317W |
probably damaging |
Het |
| Morc1 |
T |
A |
16: 48,319,129 (GRCm39) |
S278T |
probably damaging |
Het |
| Nutm1 |
A |
T |
2: 112,082,163 (GRCm39) |
N304K |
probably benign |
Het |
| Or14j8 |
G |
A |
17: 38,263,742 (GRCm39) |
P58S |
probably damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,536,100 (GRCm39) |
V698A |
probably damaging |
Het |
| Pitrm1 |
C |
A |
13: 6,602,720 (GRCm39) |
D70E |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,187,203 (GRCm39) |
T3702A |
possibly damaging |
Het |
| Ppm1h |
A |
T |
10: 122,618,086 (GRCm39) |
|
probably null |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Ptpn5 |
T |
C |
7: 46,731,636 (GRCm39) |
Y411C |
probably damaging |
Het |
| Spon2 |
G |
A |
5: 33,374,047 (GRCm39) |
A112V |
probably damaging |
Het |
| Zfp648 |
T |
A |
1: 154,080,426 (GRCm39) |
V195D |
probably benign |
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 |
|
IGL01134:Mrps9
|
APN |
1 |
42,942,557 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2013-12-09 |
Incidental Mutation