Incidental Mutation 'R4387:Mrpl1'
| ID |
326261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrpl1
|
| Ensembl Gene |
ENSMUSG00000029486 |
| Gene Name |
mitochondrial ribosomal protein L1 |
| Synonyms |
5830418D04Rik, 2410002L03Rik |
| MMRRC Submission |
041681-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R4387 (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 G
at 96386778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 256
(N256D)
|
| 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: N256D
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000037046
Gene: ENSMUSG00000029486
AA Change: N256D
| 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: N256D
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112977
Gene: ENSMUSG00000029486
AA Change: N256D
| 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 |
possibly damaging
Transcript: ENSMUST00000121477
AA Change: N256D
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112451
Gene: ENSMUSG00000029486
AA Change: N256D
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,464,693 (GRCm39) |
|
probably null |
Het |
| Adprm |
C |
T |
11: 66,929,019 (GRCm39) |
R324K |
probably benign |
Het |
| Brd10 |
A |
G |
19: 29,782,715 (GRCm39) |
|
probably benign |
Het |
| Calcr |
T |
A |
6: 3,707,581 (GRCm39) |
N240Y |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cd209b |
A |
G |
8: 3,975,960 (GRCm39) |
L67P |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,031,366 (GRCm39) |
V601A |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,540,479 (GRCm39) |
D364G |
probably damaging |
Het |
| Eno4 |
T |
A |
19: 58,941,640 (GRCm39) |
V187D |
probably benign |
Het |
| Fbxl7 |
C |
A |
15: 26,543,345 (GRCm39) |
S434I |
probably damaging |
Het |
| Fbxw24 |
A |
T |
9: 109,439,053 (GRCm39) |
L174Q |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,243,903 (GRCm39) |
R91S |
possibly damaging |
Het |
| Gabrd |
A |
G |
4: 155,473,389 (GRCm39) |
|
probably null |
Het |
| Gtpbp2 |
A |
G |
17: 46,477,284 (GRCm39) |
D383G |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,819,757 (GRCm39) |
I356V |
probably benign |
Het |
| Kcnc1 |
C |
A |
7: 46,047,126 (GRCm39) |
R9S |
possibly damaging |
Het |
| Lipi |
T |
A |
16: 75,370,843 (GRCm39) |
I125F |
probably damaging |
Het |
| Meig1 |
T |
C |
2: 3,410,278 (GRCm39) |
E74G |
probably damaging |
Het |
| Mgat4d |
A |
T |
8: 84,098,335 (GRCm39) |
Q366L |
probably damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,000,902 (GRCm39) |
K66E |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 103,907,219 (GRCm39) |
T740A |
possibly damaging |
Het |
| Or5an1c |
A |
G |
19: 12,218,503 (GRCm39) |
V174A |
probably damaging |
Het |
| Or8k33 |
T |
C |
2: 86,384,298 (GRCm39) |
T57A |
probably damaging |
Het |
| Or8k40 |
T |
A |
2: 86,584,464 (GRCm39) |
D206V |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,523,001 (GRCm39) |
I36T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,449,785 (GRCm39) |
L914M |
possibly damaging |
Het |
| Ppm1b |
A |
G |
17: 85,322,847 (GRCm39) |
D382G |
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,453,413 (GRCm39) |
Y282C |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,769,570 (GRCm39) |
Y432N |
probably damaging |
Het |
| Rbbp6 |
T |
C |
7: 122,596,534 (GRCm39) |
|
probably null |
Het |
| Recql4 |
A |
G |
15: 76,590,158 (GRCm39) |
S659P |
probably benign |
Het |
| Rpl7a-ps3 |
G |
A |
15: 36,308,429 (GRCm39) |
|
noncoding transcript |
Het |
| Shoc1 |
A |
T |
4: 59,060,915 (GRCm39) |
C953S |
possibly damaging |
Het |
| Slit3 |
T |
C |
11: 35,574,875 (GRCm39) |
V1063A |
probably benign |
Het |
| Spdye4a |
A |
G |
5: 143,211,378 (GRCm39) |
V62A |
probably benign |
Het |
| Ttc6 |
G |
A |
12: 57,689,836 (GRCm39) |
G509S |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,175,628 (GRCm39) |
T1242M |
probably benign |
Het |
| Wwc2 |
T |
C |
8: 48,284,681 (GRCm39) |
S1155G |
unknown |
Het |
| Zfp551 |
A |
T |
7: 12,152,568 (GRCm39) |
I55N |
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 |
|
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 |
|
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'- AGTCTGACATCTGTCTGCCAC -3'
(R):5'- TTGGTTCTCCCCAGAAGGAAG -3'
Sequencing Primer
(F):5'- GTCTGCCACAGCTTATTCACTG -3'
(R):5'- TTGGTTCTCCCCAGAAGGAAGTAAAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation