Incidental Mutation 'R2909:Mrps11'
ID |
261138 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mrps11
|
Ensembl Gene |
ENSMUSG00000030611 |
Gene Name |
mitochondrial ribosomal protein S11 |
Synonyms |
|
MMRRC Submission |
040496-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.949)
|
Stock # |
R2909 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
78432879-78442736 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 78438497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 83
(A83E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032840
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032840]
[ENSMUST00000133553]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032840
AA Change: A83E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032840 Gene: ENSMUSG00000030611 AA Change: A83E
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_S11
|
81 |
190 |
1.2e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123706
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132922
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133304
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133553
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136001
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
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 contains a high level of sequence similarity with ribosomal protein S11P family members. A pseudogene corresponding to this gene is found on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr5 |
G |
A |
2: 158,467,140 (GRCm39) |
G27R |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,002,102 (GRCm39) |
D1349G |
probably damaging |
Het |
Chrm3 |
G |
T |
13: 9,928,033 (GRCm39) |
D334E |
probably benign |
Het |
Clic5 |
A |
C |
17: 44,586,146 (GRCm39) |
T212P |
probably benign |
Het |
Dapk1 |
G |
A |
13: 60,864,631 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
A |
T |
9: 7,049,114 (GRCm39) |
L3262H |
probably damaging |
Het |
Epg5 |
G |
C |
18: 78,026,691 (GRCm39) |
W1227C |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,171,630 (GRCm39) |
S1757P |
probably damaging |
Het |
Gm3604 |
G |
C |
13: 62,516,832 (GRCm39) |
H509D |
probably benign |
Het |
Gramd4 |
G |
T |
15: 86,006,384 (GRCm39) |
E163* |
probably null |
Het |
Hip1r |
T |
A |
5: 124,138,656 (GRCm39) |
|
probably null |
Het |
Ice1 |
G |
T |
13: 70,744,292 (GRCm39) |
T2097K |
probably damaging |
Het |
Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
Kbtbd7 |
A |
G |
14: 79,665,922 (GRCm39) |
T585A |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kcnq3 |
T |
C |
15: 65,897,085 (GRCm39) |
T272A |
possibly damaging |
Het |
Ly6l |
T |
G |
15: 75,321,481 (GRCm39) |
|
probably null |
Het |
Minar1 |
T |
C |
9: 89,473,331 (GRCm39) |
N860S |
probably damaging |
Het |
Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
Pax7 |
T |
C |
4: 139,556,007 (GRCm39) |
I156V |
possibly damaging |
Het |
Plbd1 |
A |
T |
6: 136,611,572 (GRCm39) |
V235D |
probably damaging |
Het |
Pml |
T |
C |
9: 58,154,526 (GRCm39) |
S76G |
possibly damaging |
Het |
Ppp1r42 |
T |
A |
1: 10,073,637 (GRCm39) |
|
probably benign |
Het |
Rsl24d1 |
T |
C |
9: 73,029,585 (GRCm39) |
L61S |
probably damaging |
Het |
Rtp2 |
T |
C |
16: 23,746,235 (GRCm39) |
E132G |
probably damaging |
Het |
Sgk1 |
A |
G |
10: 21,870,715 (GRCm39) |
I23V |
probably benign |
Het |
Sharpin |
A |
G |
15: 76,234,811 (GRCm39) |
|
probably benign |
Het |
Sipa1l1 |
T |
A |
12: 82,404,105 (GRCm39) |
Y533N |
probably benign |
Het |
Slc12a9 |
T |
C |
5: 137,330,463 (GRCm39) |
I81V |
probably benign |
Het |
Stxbp5l |
G |
A |
16: 37,028,548 (GRCm39) |
T505M |
possibly damaging |
Het |
Tmem40 |
A |
G |
6: 115,713,342 (GRCm39) |
|
probably null |
Het |
Tnfrsf18 |
A |
T |
4: 156,112,727 (GRCm39) |
N138Y |
probably damaging |
Het |
Vmn2r87 |
A |
T |
10: 130,314,865 (GRCm39) |
N240K |
probably damaging |
Het |
Vmn2r91 |
A |
G |
17: 18,356,661 (GRCm39) |
E776G |
probably damaging |
Het |
Vmn2r92 |
T |
A |
17: 18,405,377 (GRCm39) |
N840K |
possibly damaging |
Het |
Vmn2r98 |
T |
C |
17: 19,287,664 (GRCm39) |
I499T |
probably damaging |
Het |
|
Other mutations in Mrps11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02642:Mrps11
|
APN |
7 |
78,438,522 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03325:Mrps11
|
APN |
7 |
78,440,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R0831:Mrps11
|
UTSW |
7 |
78,441,611 (GRCm39) |
splice site |
probably benign |
|
R1432:Mrps11
|
UTSW |
7 |
78,433,310 (GRCm39) |
splice site |
probably benign |
|
R1733:Mrps11
|
UTSW |
7 |
78,442,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R3852:Mrps11
|
UTSW |
7 |
78,440,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R4623:Mrps11
|
UTSW |
7 |
78,441,689 (GRCm39) |
critical splice donor site |
probably null |
|
R5685:Mrps11
|
UTSW |
7 |
78,441,628 (GRCm39) |
missense |
probably benign |
0.06 |
R5752:Mrps11
|
UTSW |
7 |
78,433,343 (GRCm39) |
missense |
probably benign |
0.05 |
R6091:Mrps11
|
UTSW |
7 |
78,438,466 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8184:Mrps11
|
UTSW |
7 |
78,433,125 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8762:Mrps11
|
UTSW |
7 |
78,438,487 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9178:Mrps11
|
UTSW |
7 |
78,440,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R9453:Mrps11
|
UTSW |
7 |
78,442,390 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTTGGCTCACAGTATTCAAC -3'
(R):5'- GCTAGCATAGGAGTCCCAAG -3'
Sequencing Primer
(F):5'- GTTTCTTCTGATTGCAGCC -3'
(R):5'- GGACGGCAGAAACCCTTAC -3'
|
Posted On |
2015-01-23 |