Incidental Mutation 'R6491:Mrps27'
| ID |
522891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrps27
|
| Ensembl Gene |
ENSMUSG00000041632 |
| Gene Name |
mitochondrial ribosomal protein S27 |
| Synonyms |
2610028H14Rik |
| MMRRC Submission |
044623-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R6491 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
99481294-99552070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99499538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 73
(S73P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052249]
[ENSMUST00000224660]
|
| AlphaFold |
Q8BK72 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052249
AA Change: S73P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000062326
Gene: ENSMUSG00000041632
AA Change: S73P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRP-S27
|
1 |
413 |
8.3e-156 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224660
AA Change: S73P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225973
|
| Meta Mutation Damage Score |
0.5578 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| 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 may be a functional partner of the death associated protein 3 (DAP3). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,612,508 (GRCm39) |
L431P |
probably damaging |
Het |
| Acad10 |
A |
C |
5: 121,768,220 (GRCm39) |
W779G |
probably damaging |
Het |
| Acrbp |
A |
G |
6: 125,028,442 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,827,459 (GRCm39) |
A565T |
probably benign |
Het |
| Ap2a1 |
A |
T |
7: 44,565,588 (GRCm39) |
I93K |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,383,454 (GRCm39) |
M240K |
probably damaging |
Het |
| Ceacam12 |
A |
T |
7: 17,803,185 (GRCm39) |
K197M |
probably damaging |
Het |
| Cep41 |
T |
C |
6: 30,656,483 (GRCm39) |
N323S |
probably benign |
Het |
| Dst |
A |
G |
1: 34,232,093 (GRCm39) |
T2904A |
probably benign |
Het |
| Eml1 |
G |
A |
12: 108,479,330 (GRCm39) |
|
probably null |
Het |
| Fbln2 |
A |
G |
6: 91,236,732 (GRCm39) |
N749S |
possibly damaging |
Het |
| Irf2bpl |
A |
G |
12: 86,930,238 (GRCm39) |
V145A |
probably benign |
Het |
| Itga2b |
T |
C |
11: 102,350,695 (GRCm39) |
|
probably null |
Het |
| Itga8 |
T |
C |
2: 12,209,587 (GRCm39) |
D466G |
probably damaging |
Het |
| Kdm4c |
G |
T |
4: 74,291,873 (GRCm39) |
C830F |
probably damaging |
Het |
| Mtdh |
T |
G |
15: 34,116,473 (GRCm39) |
N17K |
probably damaging |
Het |
| Muc3a |
A |
G |
5: 137,246,591 (GRCm39) |
S9P |
probably benign |
Het |
| Or8b46 |
A |
G |
9: 38,558,751 (GRCm39) |
L23P |
probably damaging |
Het |
| Oxgr1 |
T |
A |
14: 120,259,419 (GRCm39) |
I263F |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,311,923 (GRCm39) |
|
|
Het |
| Ppp2r5d |
A |
G |
17: 46,996,509 (GRCm39) |
F388S |
probably damaging |
Het |
| Pxmp4 |
A |
G |
2: 154,434,083 (GRCm39) |
|
probably null |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,267,109 (GRCm39) |
N270S |
possibly damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,278,093 (GRCm39) |
Y504C |
probably damaging |
Het |
| Snx9 |
A |
G |
17: 5,970,437 (GRCm39) |
D391G |
probably benign |
Het |
| St18 |
T |
A |
1: 6,898,209 (GRCm39) |
Y670* |
probably null |
Het |
| Tjp1 |
A |
T |
7: 64,986,865 (GRCm39) |
F207I |
possibly damaging |
Het |
| Trappc3 |
A |
G |
4: 126,169,022 (GRCm39) |
I171V |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,273,328 (GRCm39) |
L446* |
probably null |
Het |
| Vmn2r105 |
A |
T |
17: 20,447,992 (GRCm39) |
Y277* |
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,196,800 (GRCm39) |
N557K |
possibly damaging |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp938 |
A |
G |
10: 82,063,363 (GRCm39) |
*65Q |
probably null |
Het |
|
| Other mutations in Mrps27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01666:Mrps27
|
APN |
13 |
99,546,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01685:Mrps27
|
APN |
13 |
99,551,428 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
P0043:Mrps27
|
UTSW |
13 |
99,548,754 (GRCm39) |
missense |
probably benign |
|
|
R0122:Mrps27
|
UTSW |
13 |
99,501,736 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0502:Mrps27
|
UTSW |
13 |
99,546,303 (GRCm39) |
splice site |
probably benign |
|
|
R0503:Mrps27
|
UTSW |
13 |
99,546,303 (GRCm39) |
splice site |
probably benign |
|
|
R0611:Mrps27
|
UTSW |
13 |
99,541,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1540:Mrps27
|
UTSW |
13 |
99,541,558 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2566:Mrps27
|
UTSW |
13 |
99,536,836 (GRCm39) |
nonsense |
probably null |
|
|
R4227:Mrps27
|
UTSW |
13 |
99,547,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4235:Mrps27
|
UTSW |
13 |
99,541,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4715:Mrps27
|
UTSW |
13 |
99,551,323 (GRCm39) |
splice site |
probably null |
|
|
R4761:Mrps27
|
UTSW |
13 |
99,548,739 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5114:Mrps27
|
UTSW |
13 |
99,547,973 (GRCm39) |
unclassified |
probably benign |
|
|
R5294:Mrps27
|
UTSW |
13 |
99,546,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6241:Mrps27
|
UTSW |
13 |
99,548,754 (GRCm39) |
missense |
probably benign |
|
|
R6387:Mrps27
|
UTSW |
13 |
99,536,825 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6992:Mrps27
|
UTSW |
13 |
99,541,522 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7165:Mrps27
|
UTSW |
13 |
99,551,307 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7241:Mrps27
|
UTSW |
13 |
99,547,788 (GRCm39) |
nonsense |
probably null |
|
|
R7709:Mrps27
|
UTSW |
13 |
99,541,504 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7720:Mrps27
|
UTSW |
13 |
99,537,838 (GRCm39) |
missense |
unknown |
|
|
R8706:Mrps27
|
UTSW |
13 |
99,541,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mrps27
|
UTSW |
13 |
99,551,351 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTTGTGACGTTCTCGGCC -3'
(R):5'- GTTCACTGCTATGACACTGAAGG -3'
Sequencing Primer
(F):5'- CCATCTGGTAGGAGTCAGAGCTG -3'
(R):5'- TCAGTGATTACTAACTTGAGTCTGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation