Incidental Mutation 'R4636:Mrpl1'
| ID |
350732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrpl1
|
| Ensembl Gene |
ENSMUSG00000029486 |
| Gene Name |
mitochondrial ribosomal protein L1 |
| Synonyms |
5830418D04Rik, 2410002L03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R4636 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
96357357-96414586 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 96358034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 5
(V5L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036437]
[ENSMUST00000117766]
[ENSMUST00000121477]
|
| AlphaFold |
Q99N96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036437
AA Change: V5L
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000037046
Gene: ENSMUSG00000029486
AA Change: V5L
| 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: V5L
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000112977
Gene: ENSMUSG00000029486
AA Change: V5L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L1
|
55 |
307 |
3.1e-18 |
PFAM |
|
low complexity region
|
318 |
336 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121477
AA Change: V5L
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000112451
Gene: ENSMUSG00000029486
AA Change: V5L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRL1
|
1 |
165 |
9.5e-57 |
PFAM |
|
Pfam:Ribosomal_L1
|
56 |
269 |
3.4e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apcs |
T |
C |
1: 172,721,989 (GRCm39) |
E119G |
probably damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,251,876 (GRCm39) |
T876A |
probably benign |
Het |
| Arih2 |
A |
T |
9: 108,491,013 (GRCm39) |
C227S |
probably damaging |
Het |
| Bsn |
A |
T |
9: 107,992,623 (GRCm39) |
L1043Q |
probably damaging |
Het |
| Cyp2d34 |
G |
C |
15: 82,504,929 (GRCm39) |
P44A |
probably damaging |
Het |
| Ddx59 |
T |
A |
1: 136,360,301 (GRCm39) |
N438K |
probably damaging |
Het |
| Esr2 |
A |
G |
12: 76,170,098 (GRCm39) |
M447T |
possibly damaging |
Het |
| Fam131b |
A |
G |
6: 42,297,914 (GRCm39) |
S92P |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,763,365 (GRCm39) |
M457V |
probably damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,509,836 (GRCm39) |
Y166N |
probably damaging |
Het |
| Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,266,983 (GRCm39) |
E4308G |
possibly damaging |
Het |
| Nifk |
T |
A |
1: 118,257,217 (GRCm39) |
Y117N |
possibly damaging |
Het |
| Notch2 |
A |
G |
3: 98,053,420 (GRCm39) |
K2028E |
probably benign |
Het |
| Or4a76 |
A |
C |
2: 89,460,516 (GRCm39) |
I242S |
possibly damaging |
Het |
| Prpf3 |
A |
G |
3: 95,741,482 (GRCm39) |
F558S |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,169,660 (GRCm39) |
|
probably null |
Het |
| Rasa2 |
C |
T |
9: 96,426,390 (GRCm39) |
D819N |
probably benign |
Het |
| Rbl1 |
T |
A |
2: 157,009,340 (GRCm39) |
T732S |
possibly damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,239,007 (GRCm39) |
V204A |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,643,937 (GRCm39) |
L13097R |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,661,568 (GRCm39) |
E280G |
probably benign |
Het |
| Znhit6 |
G |
T |
3: 145,306,334 (GRCm39) |
V280L |
probably null |
Het |
| Znhit6 |
A |
G |
3: 145,306,333 (GRCm39) |
|
silent |
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 |
|
R0908:Mrpl1
|
UTSW |
5 |
96,409,942 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- TTGAACCCGAGCCACGAAAG -3'
(R):5'- TTAAGCACTGATGACCCTCTG -3'
Sequencing Primer
(F):5'- GGAACCGACAGGAACCTCG -3'
(R):5'- CCTCTGGGCTGTGGAGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation