Incidental Mutation 'R5025:Mrpl15'
| ID |
391279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrpl15
|
| Ensembl Gene |
ENSMUSG00000033845 |
| Gene Name |
mitochondrial ribosomal protein L15 |
| Synonyms |
HSPC145, MRP-L7, Rpml7 |
| MMRRC Submission |
042616-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R5025 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
4843429-4855962 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 4854368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045689]
[ENSMUST00000130201]
[ENSMUST00000146665]
[ENSMUST00000156816]
|
| AlphaFold |
Q9CPR5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000115538
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130201
|
| SMART Domains |
Protein: ENSMUSP00000114649
Gene: ENSMUSG00000033845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L18e
|
42 |
176 |
4.8e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132625
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146665
|
| SMART Domains |
Protein: ENSMUSP00000141204
Gene: ENSMUSG00000033845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L18e
|
42 |
126 |
6.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156816
|
| SMART Domains |
Protein: ENSMUSP00000115512
Gene: ENSMUSG00000033845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L18e
|
44 |
175 |
5e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192286
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195445
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (40/40) |
| 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 that belongs to the EcoL15 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 15q. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
A |
7: 119,153,719 (GRCm39) |
F10I |
unknown |
Het |
| Adad1 |
G |
T |
3: 37,119,359 (GRCm39) |
A147S |
probably damaging |
Het |
| Atg14 |
T |
G |
14: 47,783,273 (GRCm39) |
N354T |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 85,955,806 (GRCm39) |
E902D |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 95,855,172 (GRCm39) |
S419P |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,654,244 (GRCm39) |
K638R |
probably damaging |
Het |
| Dennd4c |
T |
A |
4: 86,713,536 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,671,128 (GRCm39) |
N585S |
probably benign |
Het |
| Eef1akmt2 |
C |
A |
7: 132,453,218 (GRCm39) |
W38L |
probably damaging |
Het |
| Fasn |
A |
T |
11: 120,702,734 (GRCm39) |
D1709E |
probably benign |
Het |
| Fbrsl1 |
T |
C |
5: 110,565,767 (GRCm39) |
D179G |
probably damaging |
Het |
| Fbxl18 |
A |
T |
5: 142,872,068 (GRCm39) |
I389N |
probably damaging |
Het |
| Fuca1 |
G |
T |
4: 135,660,237 (GRCm39) |
G252C |
probably damaging |
Het |
| Fut9 |
T |
A |
4: 25,620,502 (GRCm39) |
H104L |
probably damaging |
Het |
| Glra1 |
C |
T |
11: 55,427,331 (GRCm39) |
|
probably null |
Het |
| Gpsm1 |
T |
C |
2: 26,210,008 (GRCm39) |
V45A |
possibly damaging |
Het |
| Hadha |
A |
G |
5: 30,359,959 (GRCm39) |
|
probably benign |
Het |
| Hddc2 |
C |
T |
10: 31,203,949 (GRCm39) |
T192I |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Igkv14-100 |
A |
G |
6: 68,496,383 (GRCm39) |
D92G |
probably damaging |
Het |
| Il17rc |
T |
C |
6: 113,449,327 (GRCm39) |
V88A |
possibly damaging |
Het |
| Inpp5j |
T |
C |
11: 3,450,664 (GRCm39) |
D563G |
probably damaging |
Het |
| Lamc3 |
T |
A |
2: 31,798,681 (GRCm39) |
N462K |
probably benign |
Het |
| Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
| Obi1 |
C |
T |
14: 104,745,466 (GRCm39) |
G70E |
probably damaging |
Het |
| Or2n1c |
T |
C |
17: 38,519,334 (GRCm39) |
L66P |
probably damaging |
Het |
| Or5b122 |
G |
T |
19: 13,562,886 (GRCm39) |
A30S |
probably benign |
Het |
| Psg20 |
T |
C |
7: 18,408,291 (GRCm39) |
*473W |
probably null |
Het |
| Rimbp3 |
A |
G |
16: 17,027,671 (GRCm39) |
E365G |
probably damaging |
Het |
| Snai2 |
A |
G |
16: 14,526,053 (GRCm39) |
T235A |
possibly damaging |
Het |
| Tg |
A |
T |
15: 66,579,779 (GRCm39) |
Y1528F |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,856,075 (GRCm39) |
V35A |
probably benign |
Het |
| Tnfsf15 |
T |
C |
4: 63,648,125 (GRCm39) |
I172V |
probably benign |
Het |
| Tns1 |
G |
A |
1: 73,964,641 (GRCm39) |
T1330I |
probably damaging |
Het |
| Zc3h6 |
T |
A |
2: 128,852,353 (GRCm39) |
F330I |
possibly damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,342,809 (GRCm39) |
E396G |
possibly damaging |
Het |
|
| Other mutations in Mrpl15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01470:Mrpl15
|
APN |
1 |
4,846,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02307:Mrpl15
|
APN |
1 |
4,854,176 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02390:Mrpl15
|
APN |
1 |
4,855,837 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03054:Mrpl15
|
UTSW |
1 |
4,855,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0730:Mrpl15
|
UTSW |
1 |
4,847,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Mrpl15
|
UTSW |
1 |
4,847,805 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4855:Mrpl15
|
UTSW |
1 |
4,844,683 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5951:Mrpl15
|
UTSW |
1 |
4,855,956 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6723:Mrpl15
|
UTSW |
1 |
4,852,789 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6802:Mrpl15
|
UTSW |
1 |
4,846,953 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6988:Mrpl15
|
UTSW |
1 |
4,852,883 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7057:Mrpl15
|
UTSW |
1 |
4,846,865 (GRCm39) |
missense |
probably benign |
|
|
R7236:Mrpl15
|
UTSW |
1 |
4,846,711 (GRCm39) |
missense |
probably benign |
|
|
R7573:Mrpl15
|
UTSW |
1 |
4,847,778 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7934:Mrpl15
|
UTSW |
1 |
4,844,725 (GRCm39) |
missense |
probably benign |
|
|
R8830:Mrpl15
|
UTSW |
1 |
4,852,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Mrpl15
|
UTSW |
1 |
4,846,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9531:Mrpl15
|
UTSW |
1 |
4,847,757 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACAGTACCATAAGTGTGTTC -3'
(R):5'- AGAACTTTGCCCTGTGTTTCAC -3'
Sequencing Primer
(F):5'- TGTGTACTTCTTAGTGGAAATTACG -3'
(R):5'- CACCTTGTATTTTGGTTACTAGGATC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation