Incidental Mutation 'R6699:Mrps30'
| ID |
528697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrps30
|
| Ensembl Gene |
ENSMUSG00000021731 |
| Gene Name |
mitochondrial ribosomal protein S30 |
| Synonyms |
Pdcd9, 2610020A16Rik |
| MMRRC Submission |
044817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
R6699 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
118516646-118523788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118517134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 362
(S362T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022245]
|
| AlphaFold |
Q9D0G0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022245
AA Change: S362T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022245
Gene: ENSMUSG00000021731
AA Change: S362T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDCD9
|
1 |
423 |
1.7e-180 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225170
|
| Meta Mutation Damage Score |
0.6558 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (35/35) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
A |
G |
8: 41,279,694 (GRCm39) |
K695R |
probably benign |
Het |
| Agfg1 |
G |
A |
1: 82,836,175 (GRCm39) |
|
probably null |
Het |
| Ankrd44 |
G |
A |
1: 54,801,604 (GRCm39) |
T241I |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,654,438 (GRCm39) |
D166G |
probably null |
Het |
| Cpne2 |
G |
A |
8: 95,290,587 (GRCm39) |
V391M |
probably damaging |
Het |
| Ddx27 |
C |
T |
2: 166,862,423 (GRCm39) |
T155I |
possibly damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,341 (GRCm39) |
D417G |
probably damaging |
Het |
| Fam217b |
T |
G |
2: 178,062,210 (GRCm39) |
M58R |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,843,793 (GRCm39) |
T894A |
probably damaging |
Het |
| Ftmt |
T |
C |
18: 52,464,737 (GRCm39) |
S18P |
possibly damaging |
Het |
| Gm16494 |
C |
T |
17: 47,327,834 (GRCm39) |
V17M |
probably damaging |
Het |
| Gm36864 |
A |
T |
7: 43,888,196 (GRCm39) |
I342F |
possibly damaging |
Het |
| Grid2 |
C |
G |
6: 63,908,031 (GRCm39) |
R224G |
possibly damaging |
Het |
| H4c12 |
A |
T |
13: 21,934,674 (GRCm39) |
M1K |
probably null |
Het |
| Hmgcr |
T |
C |
13: 96,796,717 (GRCm39) |
E191G |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,119 (GRCm39) |
D90G |
possibly damaging |
Het |
| Kbtbd7 |
A |
G |
14: 79,665,632 (GRCm39) |
E488G |
probably benign |
Het |
| Krtap26-1 |
T |
C |
16: 88,444,603 (GRCm39) |
N6S |
unknown |
Het |
| Mgat2 |
A |
G |
12: 69,231,555 (GRCm39) |
D43G |
probably damaging |
Het |
| Or10ag58 |
A |
T |
2: 87,265,160 (GRCm39) |
I110F |
probably benign |
Het |
| Or2t43 |
T |
A |
11: 58,458,031 (GRCm39) |
I47L |
possibly damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,990 (GRCm39) |
V440E |
probably damaging |
Het |
| Pcdhb18 |
T |
A |
18: 37,625,005 (GRCm39) |
H778Q |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,734,410 (GRCm39) |
E1025G |
probably damaging |
Het |
| Rnf39 |
T |
C |
17: 37,258,121 (GRCm39) |
W96R |
probably damaging |
Het |
| Rph3al |
A |
T |
11: 75,791,663 (GRCm39) |
|
probably benign |
Het |
| Rrm1 |
T |
A |
7: 102,110,032 (GRCm39) |
Y556N |
probably damaging |
Het |
| Saal1 |
A |
T |
7: 46,342,241 (GRCm39) |
C401S |
probably damaging |
Het |
| Sec14l3 |
T |
C |
11: 4,025,193 (GRCm39) |
S268P |
possibly damaging |
Het |
| Tmem54 |
A |
G |
4: 129,005,118 (GRCm39) |
I199M |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,963,165 (GRCm39) |
M395V |
probably benign |
Het |
| Topors |
A |
G |
4: 40,262,300 (GRCm39) |
V328A |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,949,580 (GRCm39) |
S667A |
probably benign |
Het |
| Vmn2r68 |
G |
A |
7: 84,881,583 (GRCm39) |
A499V |
possibly damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,335,355 (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 |
|
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 |
|
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'- AACAGCTGTGCTCCGTCTTC -3'
(R):5'- GGATGGATCATAAGTCTCGGG -3'
Sequencing Primer
(F):5'- TCTCTTGGTTTATTTAGCAGAAAGTG -3'
(R):5'- TACCGGAATAGAATATAGAGTTCACG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation