Incidental Mutation 'R0030:Mrps30'
| ID |
15278 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrps30
|
| Ensembl Gene |
ENSMUSG00000021731 |
| Gene Name |
mitochondrial ribosomal protein S30 |
| Synonyms |
Pdcd9, 2610020A16Rik |
| MMRRC Submission |
038324-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
R0030 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
118516646-118523788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118519531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 298
(D298G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022245]
[ENSMUST00000181168]
|
| AlphaFold |
Q9D0G0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022245
AA Change: D298G
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022245
Gene: ENSMUSG00000021731
AA Change: D298G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDCD9
|
1 |
423 |
1.7e-180 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181168
|
| SMART Domains |
Protein: ENSMUSP00000137680
Gene: ENSMUSG00000097411
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
125 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225170
|
| Meta Mutation Damage Score |
0.5549 |
| Coding Region Coverage |
- 1x: 78.5%
- 3x: 68.6%
- 10x: 42.5%
- 20x: 22.6%
|
| Validation Efficiency |
97% (72/74) |
| 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 is similar to the chicken pro-apoptotic protein p52. Transcript variants using alternative promoters or polyA sites have been mentioned in the literature but the complete description of these sequences is not available. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp2 |
A |
C |
6: 140,583,473 (GRCm39) |
S316R |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,822,456 (GRCm39) |
S1250P |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,022,727 (GRCm39) |
|
probably null |
Het |
| Cass4 |
G |
T |
2: 172,269,762 (GRCm39) |
E617* |
probably null |
Het |
| Cct4 |
T |
C |
11: 22,951,357 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
C |
T |
1: 110,065,798 (GRCm39) |
Q691* |
probably null |
Het |
| Crip1 |
G |
A |
12: 113,116,996 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,451,663 (GRCm39) |
D4367V |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,789,512 (GRCm39) |
V1514A |
possibly damaging |
Het |
| Eps15l1 |
A |
G |
8: 73,126,894 (GRCm39) |
S646P |
probably benign |
Het |
| Faap24 |
A |
T |
7: 35,092,285 (GRCm39) |
F211I |
probably damaging |
Het |
| Flrt3 |
A |
T |
2: 140,502,237 (GRCm39) |
Y464N |
probably damaging |
Het |
| Foxi2 |
A |
G |
7: 135,013,345 (GRCm39) |
T192A |
probably damaging |
Het |
| Gm7298 |
T |
A |
6: 121,751,009 (GRCm39) |
F695L |
probably benign |
Het |
| Ifnk |
T |
G |
4: 35,152,489 (GRCm39) |
V139G |
probably benign |
Het |
| Kif18a |
A |
T |
2: 109,163,663 (GRCm39) |
I671L |
probably benign |
Het |
| Lcn10 |
T |
C |
2: 25,575,093 (GRCm39) |
F154L |
probably damaging |
Het |
| Med12l |
T |
G |
3: 59,156,076 (GRCm39) |
L1198R |
probably damaging |
Het |
| Mmp23 |
G |
A |
4: 155,735,768 (GRCm39) |
R268* |
probably null |
Het |
| Myh7 |
T |
A |
14: 55,229,427 (GRCm39) |
T124S |
probably benign |
Het |
| Odf4 |
T |
A |
11: 68,817,767 (GRCm39) |
E9D |
probably benign |
Het |
| Ptchd4 |
T |
A |
17: 42,627,999 (GRCm39) |
C153* |
probably null |
Het |
| Scp2 |
T |
A |
4: 107,964,887 (GRCm39) |
|
probably null |
Het |
| Slc16a10 |
A |
G |
10: 39,952,819 (GRCm39) |
V225A |
probably benign |
Het |
| Slc66a1 |
A |
G |
4: 139,033,764 (GRCm39) |
S52P |
probably damaging |
Het |
| Tbk1 |
A |
G |
10: 121,397,529 (GRCm39) |
V381A |
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,937,482 (GRCm39) |
K1189E |
possibly damaging |
Het |
| Ttc39a |
C |
A |
4: 109,280,170 (GRCm39) |
H151N |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,554,854 (GRCm39) |
T3544M |
possibly damaging |
Het |
| Vnn1 |
A |
G |
10: 23,776,744 (GRCm39) |
H365R |
probably benign |
Het |
|
| Other mutations in Mrps30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01647:Mrps30
|
APN |
13 |
118,517,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2439:Mrps30
|
UTSW |
13 |
118,521,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2764:Mrps30
|
UTSW |
13 |
118,521,124 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4030:Mrps30
|
UTSW |
13 |
118,517,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4231:Mrps30
|
UTSW |
13 |
118,523,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4232:Mrps30
|
UTSW |
13 |
118,523,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4234:Mrps30
|
UTSW |
13 |
118,523,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4235:Mrps30
|
UTSW |
13 |
118,523,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4236:Mrps30
|
UTSW |
13 |
118,523,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4625:Mrps30
|
UTSW |
13 |
118,523,250 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4935:Mrps30
|
UTSW |
13 |
118,523,431 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5363:Mrps30
|
UTSW |
13 |
118,523,698 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5986:Mrps30
|
UTSW |
13 |
118,521,101 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6566:Mrps30
|
UTSW |
13 |
118,523,662 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6681:Mrps30
|
UTSW |
13 |
118,517,134 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6694:Mrps30
|
UTSW |
13 |
118,523,497 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6699:Mrps30
|
UTSW |
13 |
118,517,134 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6700:Mrps30
|
UTSW |
13 |
118,517,134 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6788:Mrps30
|
UTSW |
13 |
118,516,908 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8788:Mrps30
|
UTSW |
13 |
118,523,538 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8905:Mrps30
|
UTSW |
13 |
118,523,479 (GRCm39) |
missense |
probably benign |
|
|
R8914:Mrps30
|
UTSW |
13 |
118,523,755 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8927:Mrps30
|
UTSW |
13 |
118,523,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Mrps30
|
UTSW |
13 |
118,523,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8930:Mrps30
|
UTSW |
13 |
118,523,695 (GRCm39) |
missense |
probably benign |
|
|
R8932:Mrps30
|
UTSW |
13 |
118,523,695 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-12-17 |
Incidental Mutation