Incidental Mutation 'R6694:Mrps30'
| ID |
528511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrps30
|
| Ensembl Gene |
ENSMUSG00000021731 |
| Gene Name |
mitochondrial ribosomal protein S30 |
| Synonyms |
Pdcd9, 2610020A16Rik |
| MMRRC Submission |
044812-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
R6694 (G1)
|
| Quality Score |
95.0077 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
118516646-118523788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 118523497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 92
(V92M)
|
| 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: V92M
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022245
Gene: ENSMUSG00000021731
AA Change: V92M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDCD9
|
1 |
423 |
1.7e-180 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000181168
AA Change: T53M
|
| SMART Domains |
Protein: ENSMUSP00000137680
Gene: ENSMUSG00000097411
AA Change: T53M
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
| Validation Efficiency |
95% (41/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l2 |
G |
A |
6: 48,907,480 (GRCm39) |
S160N |
probably benign |
Het |
| Arap3 |
A |
C |
18: 38,124,590 (GRCm39) |
|
probably null |
Het |
| Arhgap10 |
A |
G |
8: 78,137,692 (GRCm39) |
F300L |
probably benign |
Het |
| Ccdc116 |
T |
C |
16: 16,960,655 (GRCm39) |
E54G |
probably benign |
Het |
| Cd53 |
T |
A |
3: 106,674,702 (GRCm39) |
I122F |
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,454,849 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,490,104 (GRCm39) |
D1691G |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,150,617 (GRCm39) |
|
probably null |
Het |
| Exoc1 |
T |
A |
5: 76,697,399 (GRCm39) |
M392K |
probably damaging |
Het |
| Exoc3l |
G |
C |
8: 106,017,122 (GRCm39) |
R622G |
probably benign |
Het |
| Grid2 |
C |
G |
6: 63,908,031 (GRCm39) |
R224G |
possibly damaging |
Het |
| Kif20a |
A |
G |
18: 34,758,579 (GRCm39) |
E16G |
probably damaging |
Het |
| Kit |
T |
C |
5: 75,801,417 (GRCm39) |
V568A |
possibly damaging |
Het |
| Lhx4 |
T |
C |
1: 155,580,456 (GRCm39) |
S257G |
probably benign |
Het |
| Med18 |
C |
T |
4: 132,187,293 (GRCm39) |
V114I |
probably benign |
Het |
| Mtrr |
C |
T |
13: 68,712,452 (GRCm39) |
V645I |
probably benign |
Het |
| Nuak2 |
T |
G |
1: 132,260,048 (GRCm39) |
S609A |
probably damaging |
Het |
| Or2y1g |
A |
T |
11: 49,171,379 (GRCm39) |
I135F |
probably benign |
Het |
| Plk4 |
T |
C |
3: 40,756,263 (GRCm39) |
V58A |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,835,535 (GRCm39) |
F145L |
probably null |
Het |
| Rab11fip2 |
T |
C |
19: 59,925,707 (GRCm39) |
K170R |
probably damaging |
Het |
| Rapgef3 |
A |
G |
15: 97,657,865 (GRCm39) |
V246A |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,290,555 (GRCm39) |
S316P |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Rsf1 |
GCGGCGGC |
GCGGCGGCGACGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
| Sae1 |
G |
T |
7: 16,102,461 (GRCm39) |
A171E |
probably damaging |
Het |
| Semp2l2b |
T |
C |
10: 21,943,620 (GRCm39) |
E120G |
probably damaging |
Het |
| Setd5 |
T |
A |
6: 113,120,669 (GRCm39) |
N959K |
probably benign |
Het |
| Siae |
T |
A |
9: 37,528,119 (GRCm39) |
Y31N |
probably damaging |
Het |
| Sit1 |
C |
T |
4: 43,483,311 (GRCm39) |
G51D |
probably damaging |
Het |
| Slc5a11 |
A |
G |
7: 122,867,012 (GRCm39) |
I436V |
possibly damaging |
Het |
| Tcfl5 |
A |
G |
2: 180,264,447 (GRCm39) |
S470P |
probably damaging |
Het |
| Timd2 |
A |
T |
11: 46,561,779 (GRCm39) |
C288* |
probably null |
Het |
| Timeless |
T |
G |
10: 128,075,868 (GRCm39) |
|
probably null |
Het |
| Ubxn8 |
G |
T |
8: 34,111,572 (GRCm39) |
Q274K |
possibly damaging |
Het |
| Usp29 |
A |
G |
7: 6,965,276 (GRCm39) |
E373G |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,821,598 (GRCm39) |
Y597C |
probably damaging |
Het |
| Zfp523 |
T |
G |
17: 28,419,446 (GRCm39) |
Y195D |
probably damaging |
Het |
| Zfp74 |
G |
A |
7: 29,634,559 (GRCm39) |
A383V |
probably damaging |
Het |
| Zfp93 |
A |
T |
7: 23,975,338 (GRCm39) |
Q441L |
probably damaging |
Het |
| Zfp976 |
A |
T |
7: 42,263,610 (GRCm39) |
Y76N |
probably damaging |
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 |
|
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'- TTCACGAGCGTCCTCACTAC -3'
(R):5'- AATTCCTGCCAGTTGACCTCAAG -3'
Sequencing Primer
(F):5'- GAGCGTCCTCACTACCTGGTC -3'
(R):5'- AGTTGACCTCAAGTTCCGGGTC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation