Incidental Mutation 'R4196:Mrps9'
ID |
318547 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mrps9
|
Ensembl Gene |
ENSMUSG00000060679 |
Gene Name |
mitochondrial ribosomal protein S9 |
Synonyms |
2310002A08Rik |
MMRRC Submission |
041027-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.910)
|
Stock # |
R4196 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
42890393-42944843 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to G
at 42940254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057208]
|
AlphaFold |
Q9D7N3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057208
|
SMART Domains |
Protein: ENSMUSP00000056855 Gene: ENSMUSG00000060679
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
100% (39/39) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acmsd |
T |
G |
1: 127,676,931 (GRCm39) |
L152R |
probably damaging |
Het |
Ankle2 |
A |
G |
5: 110,392,409 (GRCm39) |
K472E |
possibly damaging |
Het |
Aup1 |
T |
C |
6: 83,032,211 (GRCm39) |
V126A |
probably damaging |
Het |
Baz1a |
T |
C |
12: 54,958,200 (GRCm39) |
Y1014C |
probably damaging |
Het |
Bcl9 |
A |
T |
3: 97,123,684 (GRCm39) |
|
probably benign |
Het |
Bltp2 |
A |
G |
11: 78,154,382 (GRCm39) |
|
probably benign |
Het |
Cnot2 |
A |
T |
10: 116,337,209 (GRCm39) |
N221K |
possibly damaging |
Het |
Col19a1 |
G |
A |
1: 24,573,133 (GRCm39) |
S213L |
unknown |
Het |
Eif4enif1 |
T |
C |
11: 3,193,186 (GRCm39) |
V675A |
possibly damaging |
Het |
Elp1 |
A |
T |
4: 56,755,353 (GRCm39) |
N1295K |
probably damaging |
Het |
Elp3 |
A |
G |
14: 65,785,451 (GRCm39) |
L450P |
probably damaging |
Het |
Erbb4 |
C |
T |
1: 68,383,014 (GRCm39) |
D328N |
possibly damaging |
Het |
Fbll1 |
T |
A |
11: 35,688,699 (GRCm39) |
H188L |
possibly damaging |
Het |
Frem2 |
A |
G |
3: 53,446,689 (GRCm39) |
F2360L |
possibly damaging |
Het |
Gm2396 |
A |
G |
9: 88,799,715 (GRCm39) |
|
noncoding transcript |
Het |
Gulo |
G |
T |
14: 66,225,702 (GRCm39) |
P375T |
possibly damaging |
Het |
Hspd1 |
T |
C |
1: 55,126,068 (GRCm39) |
M11V |
probably benign |
Het |
Itgav |
A |
G |
2: 83,598,671 (GRCm39) |
T243A |
probably benign |
Het |
Lipg |
C |
T |
18: 75,078,902 (GRCm39) |
R450H |
probably damaging |
Het |
Lrp3 |
T |
A |
7: 34,902,835 (GRCm39) |
S504C |
probably damaging |
Het |
Nlgn1 |
A |
G |
3: 25,488,556 (GRCm39) |
V564A |
probably damaging |
Het |
Ntf3 |
T |
C |
6: 126,079,138 (GRCm39) |
T110A |
probably benign |
Het |
Pkd1l1 |
T |
A |
11: 8,859,929 (GRCm39) |
I560F |
probably damaging |
Het |
Prepl |
T |
C |
17: 85,388,582 (GRCm39) |
T174A |
probably benign |
Het |
Ptprg |
A |
T |
14: 12,122,002 (GRCm38) |
T289S |
possibly damaging |
Het |
Rab11fip2 |
T |
C |
19: 59,924,213 (GRCm39) |
T222A |
probably damaging |
Het |
Rhbdd3 |
G |
T |
11: 5,049,460 (GRCm39) |
|
probably benign |
Het |
Septin4 |
C |
A |
11: 87,479,598 (GRCm39) |
D239E |
probably damaging |
Het |
Shprh |
A |
G |
10: 11,083,604 (GRCm39) |
|
probably benign |
Het |
Slc3a1 |
T |
A |
17: 85,368,306 (GRCm39) |
W525R |
probably damaging |
Het |
Trim75 |
A |
G |
8: 65,435,416 (GRCm39) |
S345P |
probably damaging |
Het |
Usp5 |
C |
T |
6: 124,801,901 (GRCm39) |
E72K |
possibly damaging |
Het |
Vmn1r225 |
T |
A |
17: 20,723,237 (GRCm39) |
M226K |
probably benign |
Het |
Wnk4 |
T |
A |
11: 101,160,457 (GRCm39) |
V697E |
probably damaging |
Het |
Zbtb9 |
C |
T |
17: 27,192,853 (GRCm39) |
T86I |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCGAAAGATGTCAGTGCCTAC -3'
(R):5'- TCACAGAAATAACCCTGGGAGG -3'
Sequencing Primer
(F):5'- AGATGTCAGTGCCTACTATTAGATGG -3'
(R):5'- CCTGGGAGGATGAACAGGTCC -3'
|
Posted On |
2015-06-10 |