Incidental Mutation 'R4406:Mrpl4'
| ID |
327664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrpl4
|
| Ensembl Gene |
ENSMUSG00000003299 |
| Gene Name |
mitochondrial ribosomal protein L4 |
| Synonyms |
1110017G11Rik |
| MMRRC Submission |
041688-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R4406 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
20914034-20920135 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20918231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 146
(W146R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003386]
[ENSMUST00000214124]
[ENSMUST00000216175]
[ENSMUST00000216824]
|
| AlphaFold |
Q9DCU6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003386
AA Change: W146R
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000003386
Gene: ENSMUSG00000003299
AA Change: W146R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_L4
|
80 |
272 |
1.4e-56 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213977
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214124
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216175
AA Change: W146R
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216325
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216466
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000216818
AA Change: W153R
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216824
AA Change: W146R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9271 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| 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. Sequence analysis identified alternatively spliced variants that encode different protein isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
C |
T |
11: 84,171,275 (GRCm39) |
L1170F |
probably benign |
Het |
| Acss3 |
A |
T |
10: 106,889,198 (GRCm39) |
D207E |
probably damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,656,671 (GRCm39) |
S325P |
probably damaging |
Het |
| Ankrd37 |
A |
G |
8: 46,450,131 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
C |
T |
4: 140,733,787 (GRCm39) |
P1059S |
probably damaging |
Het |
| Camkv |
T |
C |
9: 107,823,418 (GRCm39) |
|
probably null |
Het |
| Ces1f |
T |
C |
8: 93,989,950 (GRCm39) |
T387A |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,022,620 (GRCm39) |
L1653I |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,153,094 (GRCm39) |
A3706V |
probably benign |
Het |
| Fbln1 |
T |
A |
15: 85,115,757 (GRCm39) |
|
probably null |
Het |
| Gm1527 |
G |
A |
3: 28,949,874 (GRCm39) |
V45M |
possibly damaging |
Het |
| Gm5084 |
A |
G |
13: 60,360,380 (GRCm39) |
|
noncoding transcript |
Het |
| Itpr1 |
T |
A |
6: 108,331,624 (GRCm39) |
H194Q |
probably damaging |
Het |
| Kif24 |
A |
T |
4: 41,393,954 (GRCm39) |
L973Q |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,663,299 (GRCm39) |
T412A |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,184,894 (GRCm39) |
E420G |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,413,837 (GRCm39) |
T45A |
probably damaging |
Het |
| Mib1 |
A |
C |
18: 10,763,289 (GRCm39) |
K446N |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
| Nomo1 |
A |
G |
7: 45,706,092 (GRCm39) |
N482S |
probably benign |
Het |
| Or2y1 |
G |
A |
11: 49,385,744 (GRCm39) |
R128H |
probably benign |
Het |
| Or5b105 |
A |
G |
19: 13,079,958 (GRCm39) |
S237P |
possibly damaging |
Het |
| Or5b96 |
A |
T |
19: 12,867,598 (GRCm39) |
Y114* |
probably null |
Het |
| Or8g21 |
T |
C |
9: 38,905,865 (GRCm39) |
I289V |
possibly damaging |
Het |
| Or9s15 |
T |
A |
1: 92,525,036 (GRCm39) |
M265K |
possibly damaging |
Het |
| Osbpl10 |
C |
T |
9: 114,938,549 (GRCm39) |
H70Y |
probably damaging |
Het |
| Pdilt |
A |
C |
7: 119,094,232 (GRCm39) |
S340A |
probably damaging |
Het |
| Ppan |
C |
A |
9: 20,802,288 (GRCm39) |
D226E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sema3g |
G |
A |
14: 30,950,116 (GRCm39) |
V766M |
probably benign |
Het |
| Skint6 |
T |
A |
4: 113,013,683 (GRCm39) |
N356I |
probably benign |
Het |
| Slco2b1 |
A |
T |
7: 99,314,096 (GRCm39) |
S496T |
probably benign |
Het |
| Trak1 |
T |
C |
9: 121,260,602 (GRCm39) |
V11A |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Umod |
G |
A |
7: 119,065,287 (GRCm39) |
P581S |
probably damaging |
Het |
| Zfat |
A |
G |
15: 68,052,040 (GRCm39) |
S585P |
probably benign |
Het |
| Zfp472 |
C |
A |
17: 33,197,134 (GRCm39) |
T403N |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 42,839,748 (GRCm39) |
Q405R |
possibly damaging |
Het |
|
| Other mutations in Mrpl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00953:Mrpl4
|
APN |
9 |
20,919,863 (GRCm39) |
missense |
probably benign |
|
|
IGL01088:Mrpl4
|
APN |
9 |
20,914,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02991:Mrpl4
|
UTSW |
9 |
20,919,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0051:Mrpl4
|
UTSW |
9 |
20,918,964 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0138:Mrpl4
|
UTSW |
9 |
20,919,888 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0266:Mrpl4
|
UTSW |
9 |
20,914,610 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1449:Mrpl4
|
UTSW |
9 |
20,918,807 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1855:Mrpl4
|
UTSW |
9 |
20,914,667 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1899:Mrpl4
|
UTSW |
9 |
20,918,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4260:Mrpl4
|
UTSW |
9 |
20,918,988 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4622:Mrpl4
|
UTSW |
9 |
20,918,793 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6359:Mrpl4
|
UTSW |
9 |
20,919,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7201:Mrpl4
|
UTSW |
9 |
20,918,634 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7476:Mrpl4
|
UTSW |
9 |
20,914,067 (GRCm39) |
unclassified |
probably benign |
|
|
R7529:Mrpl4
|
UTSW |
9 |
20,918,975 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8808:Mrpl4
|
UTSW |
9 |
20,918,978 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTCAAGGTGGAGGACTCTG -3'
(R):5'- ATCCTGCTAGGTACCATGGG -3'
Sequencing Primer
(F):5'- GGTCCCTAAGTTCCCCGCAC -3'
(R):5'- GGGACATACAGCAAGATCTAGTTTC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation