Incidental Mutation 'IGL03325:Mrps11'
| ID |
416630 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrps11
|
| Ensembl Gene |
ENSMUSG00000030611 |
| Gene Name |
mitochondrial ribosomal protein S11 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
IGL03325
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
78432879-78442736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78440453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 114
(F114S)
|
| 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: F114S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032840
Gene: ENSMUSG00000030611
AA Change: F114S
| 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,844,422 (GRCm39) |
R870C |
possibly damaging |
Het |
| Abcf2 |
A |
T |
5: 24,779,210 (GRCm39) |
L113I |
probably damaging |
Het |
| Abi1 |
C |
T |
2: 22,861,240 (GRCm39) |
R106Q |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,036,324 (GRCm39) |
V1645A |
probably benign |
Het |
| Ccdc198 |
A |
T |
14: 49,481,277 (GRCm39) |
|
probably benign |
Het |
| Ceacam1 |
G |
A |
7: 25,175,912 (GRCm39) |
A94V |
possibly damaging |
Het |
| Fat2 |
G |
A |
11: 55,173,168 (GRCm39) |
T2515I |
probably damaging |
Het |
| Gm5800 |
T |
C |
14: 51,951,983 (GRCm39) |
Y93C |
probably benign |
Het |
| Gnl1 |
A |
G |
17: 36,299,548 (GRCm39) |
D573G |
probably damaging |
Het |
| Gosr1 |
A |
G |
11: 76,645,229 (GRCm39) |
M105T |
probably benign |
Het |
| Gramd1c |
A |
T |
16: 43,825,868 (GRCm39) |
Y303N |
probably benign |
Het |
| Heatr9 |
A |
G |
11: 83,404,085 (GRCm39) |
|
probably null |
Het |
| Iigp1c |
T |
A |
18: 60,378,883 (GRCm39) |
Y139* |
probably null |
Het |
| Itih2 |
T |
C |
2: 10,111,546 (GRCm39) |
D464G |
probably damaging |
Het |
| Jcad |
T |
C |
18: 4,673,902 (GRCm39) |
Y555H |
probably benign |
Het |
| Krtap19-3 |
A |
T |
16: 88,674,609 (GRCm39) |
*88R |
probably null |
Het |
| Nat8 |
A |
T |
6: 85,807,875 (GRCm39) |
V86E |
possibly damaging |
Het |
| Nek5 |
T |
C |
8: 22,569,158 (GRCm39) |
T555A |
probably benign |
Het |
| Or6c3 |
A |
T |
10: 129,309,474 (GRCm39) |
K304N |
probably benign |
Het |
| Pprc1 |
C |
T |
19: 46,049,948 (GRCm39) |
T10I |
possibly damaging |
Het |
| Prss16 |
A |
G |
13: 22,187,417 (GRCm39) |
V409A |
possibly damaging |
Het |
| Sema3d |
T |
A |
5: 12,513,189 (GRCm39) |
L53Q |
probably damaging |
Het |
| Sfmbt2 |
T |
C |
2: 10,582,628 (GRCm39) |
Y696H |
probably damaging |
Het |
| Sh2d3c |
C |
T |
2: 32,615,270 (GRCm39) |
A120V |
probably benign |
Het |
| Smn1 |
A |
G |
13: 100,264,365 (GRCm39) |
Y32C |
probably damaging |
Het |
| Sun2 |
C |
T |
15: 79,622,849 (GRCm39) |
R110Q |
probably benign |
Het |
| Tcp11l2 |
T |
G |
10: 84,440,764 (GRCm39) |
D323E |
possibly damaging |
Het |
| Tex55 |
A |
T |
16: 38,648,355 (GRCm39) |
S251R |
probably damaging |
Het |
| Tnni3k |
A |
T |
3: 154,667,451 (GRCm39) |
S296R |
probably damaging |
Het |
| Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,135,869 (GRCm39) |
S2435T |
probably damaging |
Het |
| Vmn2r114 |
C |
A |
17: 23,510,652 (GRCm39) |
K609N |
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 |
|
|
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 |
|
R2909:Mrps11
|
UTSW |
7 |
78,438,497 (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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation