Incidental Mutation 'R5649:Mrpl55'
| ID |
441330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrpl55
|
| Ensembl Gene |
ENSMUSG00000036860 |
| Gene Name |
mitochondrial ribosomal protein L55 |
| Synonyms |
2810038N09Rik |
| MMRRC Submission |
043170-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R5649 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
59093312-59096960 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 59095397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 20
(C20*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104415
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020719]
[ENSMUST00000045697]
[ENSMUST00000108784]
[ENSMUST00000108785]
[ENSMUST00000108786]
[ENSMUST00000108787]
|
| AlphaFold |
Q9CZ83 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020719
|
| SMART Domains |
Protein: ENSMUSP00000020719
Gene: ENSMUSG00000020441
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMtag
|
8 |
83 |
5.7e-34 |
PFAM |
|
low complexity region
|
117 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000045697
AA Change: C13*
|
| SMART Domains |
Protein: ENSMUSP00000048814
Gene: ENSMUSG00000036860
AA Change: C13*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitoc_L55
|
6 |
124 |
9.7e-56 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000101158
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108784
AA Change: C20*
|
| SMART Domains |
Protein: ENSMUSP00000104412
Gene: ENSMUSG00000036860
AA Change: C20*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitoc_L55
|
16 |
131 |
6.6e-61 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108785
AA Change: C13*
|
| SMART Domains |
Protein: ENSMUSP00000104413
Gene: ENSMUSG00000036860
AA Change: C13*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitoc_L55
|
6 |
124 |
9.7e-56 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108786
AA Change: C20*
|
| SMART Domains |
Protein: ENSMUSP00000104414
Gene: ENSMUSG00000036860
AA Change: C20*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitoc_L55
|
13 |
131 |
4.4e-55 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108787
AA Change: C20*
|
| SMART Domains |
Protein: ENSMUSP00000104415
Gene: ENSMUSG00000036860
AA Change: C20*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mitoc_L55
|
13 |
131 |
4.4e-55 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154354
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| 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 39S subunit protein. Multiple transcript variants encoding two different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,330,501 (GRCm39) |
T1385A |
probably damaging |
Het |
| Apc2 |
T |
A |
10: 80,149,972 (GRCm39) |
D1646E |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,407,407 (GRCm39) |
R2098H |
probably benign |
Het |
| Atl3 |
C |
A |
19: 7,509,592 (GRCm39) |
T435N |
possibly damaging |
Het |
| Cdh22 |
G |
T |
2: 164,958,200 (GRCm39) |
T589K |
probably damaging |
Het |
| Cnot3 |
T |
C |
7: 3,661,082 (GRCm39) |
L561S |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,841,468 (GRCm39) |
D363G |
unknown |
Het |
| Cyp24a1 |
T |
C |
2: 170,338,229 (GRCm39) |
D105G |
possibly damaging |
Het |
| Dennd4a |
C |
A |
9: 64,758,491 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
G |
17: 31,019,561 (GRCm39) |
K3878R |
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,894,539 (GRCm39) |
S1900P |
probably benign |
Het |
| Fancg |
A |
G |
4: 43,008,736 (GRCm39) |
L167P |
probably damaging |
Het |
| Ighd2-8 |
A |
G |
12: 113,414,487 (GRCm39) |
S1P |
possibly damaging |
Het |
| Kif28 |
A |
G |
1: 179,525,336 (GRCm39) |
|
probably null |
Het |
| Myo5a |
A |
G |
9: 75,079,001 (GRCm39) |
K920E |
possibly damaging |
Het |
| Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
| Olfm3 |
A |
G |
3: 114,890,573 (GRCm39) |
R76G |
probably damaging |
Het |
| Or14a258 |
T |
C |
7: 86,035,521 (GRCm39) |
M116V |
probably damaging |
Het |
| Or2ag1 |
T |
C |
7: 106,313,373 (GRCm39) |
R172G |
possibly damaging |
Het |
| Pcdha12 |
A |
T |
18: 37,155,468 (GRCm39) |
D729V |
probably benign |
Het |
| Phf11c |
T |
C |
14: 59,622,981 (GRCm39) |
|
probably null |
Het |
| Phf20 |
T |
A |
2: 156,093,688 (GRCm39) |
|
probably null |
Het |
| Plbd1 |
T |
A |
6: 136,593,987 (GRCm39) |
Y376F |
probably benign |
Het |
| Poglut1 |
A |
G |
16: 38,352,173 (GRCm39) |
V257A |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,106,623 (GRCm39) |
I3249T |
probably benign |
Het |
| Rgsl1 |
G |
A |
1: 153,701,639 (GRCm39) |
P272S |
possibly damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,592,472 (GRCm39) |
Y197* |
probably null |
Het |
| Slc45a2 |
C |
T |
15: 11,012,693 (GRCm39) |
T232I |
probably benign |
Het |
| Ssc5d |
T |
A |
7: 4,929,517 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
T |
C |
17: 14,910,215 (GRCm39) |
Y128C |
probably damaging |
Het |
| Them4 |
A |
T |
3: 94,238,851 (GRCm39) |
L219F |
possibly damaging |
Het |
| Tmem30b |
G |
T |
12: 73,592,940 (GRCm39) |
N58K |
probably benign |
Het |
| Trappc2b |
T |
C |
11: 51,576,799 (GRCm39) |
E33G |
probably benign |
Het |
| Ttc29 |
G |
A |
8: 78,972,942 (GRCm39) |
E131K |
possibly damaging |
Het |
| Vmn1r29 |
C |
G |
6: 58,284,676 (GRCm39) |
S132C |
probably benign |
Het |
| Vmn1r53 |
G |
A |
6: 90,200,742 (GRCm39) |
A194V |
probably benign |
Het |
| Wdr86 |
A |
T |
5: 24,923,085 (GRCm39) |
H202Q |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,347,239 (GRCm39) |
D3160G |
probably benign |
Het |
| Xkr5 |
T |
C |
8: 18,983,982 (GRCm39) |
D520G |
probably benign |
Het |
| Zfp607b |
T |
G |
7: 27,403,406 (GRCm39) |
C621G |
probably damaging |
Het |
|
| Other mutations in Mrpl55 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Mrpl55
|
APN |
11 |
59,096,499 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9257:Mrpl55
|
UTSW |
11 |
59,096,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9438:Mrpl55
|
UTSW |
11 |
59,096,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Mrpl55
|
UTSW |
11 |
59,095,415 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Mrpl55
|
UTSW |
11 |
59,094,999 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1187:Mrpl55
|
UTSW |
11 |
59,095,415 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Mrpl55
|
UTSW |
11 |
59,094,999 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1188:Mrpl55
|
UTSW |
11 |
59,095,415 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Mrpl55
|
UTSW |
11 |
59,094,999 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1189:Mrpl55
|
UTSW |
11 |
59,095,415 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Mrpl55
|
UTSW |
11 |
59,094,999 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1190:Mrpl55
|
UTSW |
11 |
59,095,415 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Mrpl55
|
UTSW |
11 |
59,094,999 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1191:Mrpl55
|
UTSW |
11 |
59,095,415 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Mrpl55
|
UTSW |
11 |
59,094,999 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1192:Mrpl55
|
UTSW |
11 |
59,095,415 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Mrpl55
|
UTSW |
11 |
59,094,999 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTAGTTCAATGGAGGTCC -3'
(R):5'- ACTATGGCTCAGCAAGTACC -3'
Sequencing Primer
(F):5'- GAGGTCCTTAAATGCAAGCCGTC -3'
(R):5'- TATGGCTCAGCAAGTACCTACTG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation