Incidental Mutation 'R0908:Mrpl1'
| ID |
83387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrpl1
|
| Ensembl Gene |
ENSMUSG00000029486 |
| Gene Name |
mitochondrial ribosomal protein L1 |
| Synonyms |
5830418D04Rik, 2410002L03Rik |
| MMRRC Submission |
039066-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R0908 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
96357357-96414586 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96409942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 272
(I272L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036437]
[ENSMUST00000117766]
|
| AlphaFold |
Q99N96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036437
AA Change: I272L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000037046
Gene: ENSMUSG00000029486
AA Change: I272L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRL1
|
2 |
165 |
1.3e-56 |
PFAM |
|
Pfam:Ribosomal_L1
|
55 |
307 |
3e-17 |
PFAM |
|
low complexity region
|
318 |
336 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117766
AA Change: I272L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000112977
Gene: ENSMUSG00000029486
AA Change: I272L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L1
|
55 |
307 |
3.1e-18 |
PFAM |
|
low complexity region
|
318 |
336 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.1%
|
| 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 that belongs to the L1 ribosomal protein family. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,775,838 (GRCm39) |
F1676I |
probably damaging |
Het |
| Afg2a |
T |
A |
3: 37,485,772 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Atp8b3 |
T |
C |
10: 80,355,918 (GRCm39) |
T1265A |
probably benign |
Het |
| Cep112 |
T |
C |
11: 108,555,323 (GRCm39) |
V679A |
possibly damaging |
Het |
| Cts8 |
A |
T |
13: 61,398,730 (GRCm39) |
Y259N |
probably damaging |
Het |
| Depdc7 |
A |
G |
2: 104,558,437 (GRCm39) |
S195P |
probably benign |
Het |
| Dio2 |
A |
T |
12: 90,696,422 (GRCm39) |
C189S |
probably damaging |
Het |
| Dmc1 |
A |
G |
15: 79,469,890 (GRCm39) |
L189P |
probably damaging |
Het |
| Ehmt1 |
A |
G |
2: 24,694,900 (GRCm39) |
Y1016H |
probably damaging |
Het |
| Gle1 |
T |
C |
2: 29,826,133 (GRCm39) |
S71P |
probably benign |
Het |
| Gykl1 |
T |
A |
18: 52,828,441 (GRCm39) |
*550K |
probably null |
Het |
| Klhl32 |
T |
C |
4: 24,682,092 (GRCm39) |
D197G |
probably damaging |
Het |
| Krt78 |
G |
A |
15: 101,859,336 (GRCm39) |
T287M |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Or52e19 |
T |
C |
7: 102,959,780 (GRCm39) |
V284A |
possibly damaging |
Het |
| Or8g23 |
T |
C |
9: 38,971,243 (GRCm39) |
T240A |
probably damaging |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
A |
T |
3: 122,572,650 (GRCm39) |
I344L |
probably benign |
Het |
| Prl7c1 |
A |
G |
13: 27,957,717 (GRCm39) |
I241T |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,414,878 (GRCm39) |
E2078G |
probably benign |
Het |
| Scamp3 |
T |
C |
3: 89,086,746 (GRCm39) |
|
probably null |
Het |
| Septin8 |
A |
G |
11: 53,428,697 (GRCm39) |
H414R |
probably benign |
Het |
| Spef2 |
T |
A |
15: 9,614,281 (GRCm39) |
|
probably null |
Het |
| Txlnb |
A |
G |
10: 17,674,925 (GRCm39) |
N26S |
probably damaging |
Het |
| Vmn1r11 |
G |
T |
6: 57,115,049 (GRCm39) |
V201L |
probably damaging |
Het |
|
| Other mutations in Mrpl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00475:Mrpl1
|
APN |
5 |
96,374,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01068:Mrpl1
|
APN |
5 |
96,371,895 (GRCm39) |
splice site |
probably benign |
|
|
IGL02172:Mrpl1
|
APN |
5 |
96,379,574 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1726:Mrpl1
|
UTSW |
5 |
96,371,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1827:Mrpl1
|
UTSW |
5 |
96,374,202 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4387:Mrpl1
|
UTSW |
5 |
96,386,778 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4636:Mrpl1
|
UTSW |
5 |
96,358,034 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5974:Mrpl1
|
UTSW |
5 |
96,379,653 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7062:Mrpl1
|
UTSW |
5 |
96,361,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8241:Mrpl1
|
UTSW |
5 |
96,386,733 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8377:Mrpl1
|
UTSW |
5 |
96,374,226 (GRCm39) |
missense |
probably benign |
|
|
R8419:Mrpl1
|
UTSW |
5 |
96,374,226 (GRCm39) |
missense |
probably benign |
|
|
R8421:Mrpl1
|
UTSW |
5 |
96,374,226 (GRCm39) |
missense |
probably benign |
|
|
R8461:Mrpl1
|
UTSW |
5 |
96,361,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9090:Mrpl1
|
UTSW |
5 |
96,371,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9231:Mrpl1
|
UTSW |
5 |
96,361,719 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9271:Mrpl1
|
UTSW |
5 |
96,371,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Mrpl1
|
UTSW |
5 |
96,386,806 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1088:Mrpl1
|
UTSW |
5 |
96,409,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTCGGGAAATTACTTGGAAACTGC -3'
(R):5'- AGAAGGCCAACTGGCTTCAAACTAC -3'
Sequencing Primer
(F):5'- GAAAAACTTAAAAACAGTCCACTGTG -3'
(R):5'- TATGCAAATGTACAAAGGTTCGAGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation