Incidental Mutation 'IGL01647:Mrps30'
ID |
102708 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mrps30
|
Ensembl Gene |
ENSMUSG00000021731 |
Gene Name |
mitochondrial ribosomal protein S30 |
Synonyms |
Pdcd9, 2610020A16Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.920)
|
Stock # |
IGL01647
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
118516646-118523788 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 118517146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 358
(G358R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022245
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022245]
|
AlphaFold |
Q9D0G0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022245
AA Change: G358R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022245 Gene: ENSMUSG00000021731 AA Change: G358R
Domain | Start | End | E-Value | Type |
Pfam:PDCD9
|
1 |
423 |
1.7e-180 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225170
|
Coding Region Coverage |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
T |
A |
2: 35,266,097 (GRCm39) |
D191V |
probably damaging |
Het |
Adcy6 |
T |
C |
15: 98,498,156 (GRCm39) |
D382G |
probably damaging |
Het |
Arhgef33 |
A |
T |
17: 80,672,695 (GRCm39) |
|
probably benign |
Het |
Armc10 |
A |
G |
5: 21,851,091 (GRCm39) |
|
probably benign |
Het |
Bcas1 |
T |
A |
2: 170,191,172 (GRCm39) |
Q586L |
probably damaging |
Het |
Bltp3b |
T |
C |
10: 89,609,982 (GRCm39) |
|
probably null |
Het |
Ccdc88a |
A |
C |
11: 29,454,321 (GRCm39) |
|
probably benign |
Het |
Cep250 |
T |
A |
2: 155,825,296 (GRCm39) |
C1057S |
probably benign |
Het |
Ctsm |
A |
T |
13: 61,688,087 (GRCm39) |
M14K |
probably benign |
Het |
Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,868,593 (GRCm39) |
Y1463H |
possibly damaging |
Het |
Garin3 |
G |
T |
11: 46,296,224 (GRCm39) |
E199* |
probably null |
Het |
Gck |
A |
T |
11: 5,854,472 (GRCm39) |
M251K |
probably damaging |
Het |
Gzf1 |
C |
T |
2: 148,525,570 (GRCm39) |
P14S |
probably damaging |
Het |
Iws1 |
A |
T |
18: 32,230,275 (GRCm39) |
K748* |
probably null |
Het |
Kif15 |
T |
A |
9: 122,792,536 (GRCm39) |
|
probably benign |
Het |
Ly6g6f |
A |
G |
17: 35,299,817 (GRCm39) |
|
probably benign |
Het |
Nfrkb |
T |
A |
9: 31,307,801 (GRCm39) |
|
probably benign |
Het |
Or5m3b |
C |
T |
2: 85,872,441 (GRCm39) |
P261S |
probably damaging |
Het |
Pakap |
A |
T |
4: 57,688,477 (GRCm39) |
I107F |
possibly damaging |
Het |
Pcnt |
T |
A |
10: 76,205,835 (GRCm39) |
K2506* |
probably null |
Het |
Pgc |
G |
T |
17: 48,043,329 (GRCm39) |
G226W |
probably damaging |
Het |
Pip5k1a |
C |
T |
3: 94,981,383 (GRCm39) |
V82M |
probably damaging |
Het |
Plk3 |
A |
G |
4: 116,987,554 (GRCm39) |
V466A |
probably damaging |
Het |
Prss44 |
C |
A |
9: 110,643,745 (GRCm39) |
Q130K |
probably damaging |
Het |
Rbck1 |
T |
C |
2: 152,165,152 (GRCm39) |
Y66C |
probably damaging |
Het |
Rbm6 |
T |
C |
9: 107,730,081 (GRCm39) |
E189G |
probably benign |
Het |
Rtn4r |
G |
T |
16: 17,969,190 (GRCm39) |
R206L |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,600,366 (GRCm39) |
G4613E |
probably damaging |
Het |
Sema5a |
T |
G |
15: 32,417,587 (GRCm39) |
L19R |
possibly damaging |
Het |
Slc30a5 |
T |
C |
13: 100,957,653 (GRCm39) |
T139A |
possibly damaging |
Het |
Slco2a1 |
T |
G |
9: 102,947,495 (GRCm39) |
S265A |
possibly damaging |
Het |
Smad4 |
A |
G |
18: 73,773,544 (GRCm39) |
|
probably benign |
Het |
St13 |
C |
T |
15: 81,255,708 (GRCm39) |
R240Q |
probably damaging |
Het |
Tcea3 |
A |
C |
4: 136,002,087 (GRCm39) |
|
probably benign |
Het |
Vmn1r177 |
T |
C |
7: 23,565,600 (GRCm39) |
Y92C |
probably damaging |
Het |
Wnt8b |
A |
T |
19: 44,499,704 (GRCm39) |
D151V |
probably damaging |
Het |
Zfp426 |
T |
A |
9: 20,389,453 (GRCm39) |
M1L |
possibly damaging |
Het |
|
Other mutations in Mrps30 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2014-01-21 |