Incidental Mutation 'R4195:Mrps9'
| ID |
318514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrps9
|
| Ensembl Gene |
ENSMUSG00000060679 |
| Gene Name |
mitochondrial ribosomal protein S9 |
| Synonyms |
2310002A08Rik |
| MMRRC Submission |
041026-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.895)
|
| Stock # |
R4195 (G1)
|
| Quality Score |
221 |
|
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: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (40/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
G |
1: 127,676,931 (GRCm39) |
L152R |
probably damaging |
Het |
| Actg2 |
T |
G |
6: 83,500,155 (GRCm39) |
T39P |
probably damaging |
Het |
| Agap1 |
A |
G |
1: 89,762,261 (GRCm39) |
E531G |
probably damaging |
Het |
| Alox12b |
A |
G |
11: 69,060,426 (GRCm39) |
S661G |
probably benign |
Het |
| Apod |
T |
C |
16: 31,116,392 (GRCm39) |
M113V |
probably benign |
Het |
| Atl3 |
A |
G |
19: 7,495,911 (GRCm39) |
I171V |
possibly damaging |
Het |
| Atrn |
C |
A |
2: 130,775,332 (GRCm39) |
T145K |
probably damaging |
Het |
| Cacna1f |
A |
G |
X: 7,475,169 (GRCm39) |
H57R |
probably damaging |
Het |
| Cdhr18 |
C |
A |
14: 13,829,772 (GRCm38) |
V657L |
probably benign |
Het |
| Cldn9 |
T |
C |
17: 23,902,148 (GRCm39) |
E159G |
probably damaging |
Het |
| Cnnm4 |
C |
A |
1: 36,538,589 (GRCm39) |
H590Q |
probably benign |
Het |
| Col19a1 |
G |
A |
1: 24,573,133 (GRCm39) |
S213L |
unknown |
Het |
| Cse1l |
A |
G |
2: 166,771,899 (GRCm39) |
T387A |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,193,186 (GRCm39) |
V675A |
possibly damaging |
Het |
| Fbll1 |
A |
G |
11: 35,688,493 (GRCm39) |
S257P |
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 |
| G3bp2 |
A |
G |
5: 92,203,275 (GRCm39) |
S349P |
probably damaging |
Het |
| Gm2396 |
A |
G |
9: 88,799,715 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6569 |
C |
T |
15: 73,708,092 (GRCm39) |
P22L |
probably damaging |
Het |
| Itih2 |
T |
C |
2: 10,120,096 (GRCm39) |
N314D |
probably damaging |
Het |
| Lman2l |
A |
C |
1: 36,464,022 (GRCm39) |
I266M |
probably damaging |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Neb |
G |
T |
2: 52,161,571 (GRCm39) |
R2074S |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,180,847 (GRCm39) |
H1226Q |
probably damaging |
Het |
| Nmi |
A |
C |
2: 51,838,632 (GRCm39) |
S301A |
probably benign |
Het |
| Or11i1 |
A |
T |
3: 106,729,328 (GRCm39) |
C182* |
probably null |
Het |
| Pclo |
A |
G |
5: 14,727,577 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,859,929 (GRCm39) |
I560F |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,019,327 (GRCm39) |
Y59H |
probably damaging |
Het |
| Slc30a4 |
G |
A |
2: 122,527,190 (GRCm39) |
T401M |
probably damaging |
Het |
| Tas1r3 |
T |
C |
4: 155,947,442 (GRCm39) |
E81G |
probably damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,547 (GRCm39) |
|
probably null |
Het |
| Zzz3 |
A |
G |
3: 152,134,102 (GRCm39) |
T387A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGAAAGATGTCAGTGCCTAC -3'
(R):5'- GTAAAATGGCAGCCCTCACAG -3'
Sequencing Primer
(F):5'- AGATGTCAGTGCCTACTATTAGATGG -3'
(R):5'- TCACAGAAATAACCCTGGGAGG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation