Incidental Mutation 'R2439:Mrps30'
| ID |
249740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrps30
|
| Ensembl Gene |
ENSMUSG00000021731 |
| Gene Name |
mitochondrial ribosomal protein S30 |
| Synonyms |
Pdcd9, 2610020A16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.936)
|
| Stock # |
R2439 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
118516646-118523788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118521808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 231
(P231S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022245]
[ENSMUST00000181168]
|
| AlphaFold |
Q9D0G0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022245
AA Change: P231S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022245
Gene: ENSMUSG00000021731
AA Change: P231S
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| 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 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp11b |
C |
A |
3: 35,868,233 (GRCm39) |
T635K |
possibly damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Btla |
G |
T |
16: 45,059,503 (GRCm39) |
C69F |
probably damaging |
Het |
| Cdh10 |
T |
G |
15: 19,013,484 (GRCm39) |
L695V |
probably damaging |
Het |
| Cfap44 |
C |
T |
16: 44,301,609 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
T |
G |
1: 80,510,149 (GRCm39) |
N1560H |
probably damaging |
Het |
| Ephb6 |
C |
A |
6: 41,595,669 (GRCm39) |
H809Q |
probably benign |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Gdf7 |
A |
G |
12: 8,348,050 (GRCm39) |
S416P |
probably damaging |
Het |
| Ints8 |
T |
C |
4: 11,225,725 (GRCm39) |
M611V |
probably benign |
Het |
| Lypd8l |
A |
G |
11: 58,501,603 (GRCm39) |
C127R |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,994,002 (GRCm39) |
E504G |
probably damaging |
Het |
| Nr1h3 |
T |
C |
2: 91,020,565 (GRCm39) |
D256G |
probably benign |
Het |
| Pramel5 |
T |
C |
4: 144,000,310 (GRCm39) |
M89V |
probably benign |
Het |
| Psg18 |
T |
C |
7: 18,080,044 (GRCm39) |
T386A |
probably benign |
Het |
| Ptprc |
A |
G |
1: 137,993,890 (GRCm39) |
V1180A |
possibly damaging |
Het |
| Rassf8 |
T |
C |
6: 145,761,060 (GRCm39) |
S129P |
probably damaging |
Het |
| Rbm6 |
A |
G |
9: 107,656,796 (GRCm39) |
Y994H |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc2a4 |
A |
G |
11: 69,836,451 (GRCm39) |
F222S |
possibly damaging |
Het |
| Smarca2 |
T |
C |
19: 26,668,854 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
T |
G |
14: 123,209,315 (GRCm39) |
N110T |
probably damaging |
Het |
| Tsc22d1 |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCA |
14: 76,654,707 (GRCm39) |
|
probably benign |
Het |
| Umad1 |
T |
A |
6: 8,427,078 (GRCm39) |
D110E |
probably damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,060,891 (GRCm39) |
|
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 |
|
R0030:Mrps30
|
UTSW |
13 |
118,519,531 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATAACACTCCAAACTAGAGAGTTG -3'
(R):5'- TCTTAGACATGCTGCTCATCAC -3'
Sequencing Primer
(F):5'- TGAAAAAGACTTCCAGAAAAGTTGCC -3'
(R):5'- GACATGCTGCTCATCACATGTTTATG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation