Incidental Mutation 'IGL00953:Mrpl4'
| ID |
278111 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrpl4
|
| Ensembl Gene |
ENSMUSG00000003299 |
| Gene Name |
mitochondrial ribosomal protein L4 |
| Synonyms |
1110017G11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
IGL00953
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
20914034-20920135 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 20919863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 271
(D271E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003386]
[ENSMUST00000214124]
[ENSMUST00000216175]
[ENSMUST00000216824]
|
| AlphaFold |
Q9DCU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003386
AA Change: D271E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000003386
Gene: ENSMUSG00000003299
AA Change: D271E
| 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 benign
Transcript: ENSMUST00000216175
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216325
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216466
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216818
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216824
|
| Coding Region Coverage |
|
| 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. 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,902,047 (GRCm39) |
E726G |
probably benign |
Het |
| Cdyl2 |
T |
A |
8: 117,321,928 (GRCm39) |
|
probably benign |
Het |
| Cep41 |
T |
C |
6: 30,660,966 (GRCm39) |
T109A |
probably benign |
Het |
| Clca3b |
C |
T |
3: 144,552,972 (GRCm39) |
W84* |
probably null |
Het |
| Cyp27b1 |
A |
G |
10: 126,885,551 (GRCm39) |
D130G |
probably benign |
Het |
| Cyp2f2 |
T |
C |
7: 26,829,242 (GRCm39) |
V249A |
possibly damaging |
Het |
| Cyth3 |
G |
A |
5: 143,692,920 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
T |
17: 30,925,431 (GRCm39) |
E1289* |
probably null |
Het |
| Fam171a1 |
A |
T |
2: 3,179,327 (GRCm39) |
D51V |
possibly damaging |
Het |
| Farp2 |
A |
G |
1: 93,488,896 (GRCm39) |
R107G |
possibly damaging |
Het |
| Gemin6 |
T |
C |
17: 80,535,294 (GRCm39) |
F85L |
possibly damaging |
Het |
| Hivep3 |
A |
C |
4: 119,955,571 (GRCm39) |
T1296P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Htt |
T |
A |
5: 34,976,021 (GRCm39) |
S670T |
probably benign |
Het |
| Klhl24 |
A |
T |
16: 19,941,717 (GRCm39) |
N555I |
possibly damaging |
Het |
| Limd1 |
T |
A |
9: 123,308,948 (GRCm39) |
S216T |
probably benign |
Het |
| Lmf2 |
A |
T |
15: 89,238,102 (GRCm39) |
I234N |
probably damaging |
Het |
| Mydgf |
C |
T |
17: 56,486,407 (GRCm39) |
G75R |
probably damaging |
Het |
| Nat1 |
A |
G |
8: 67,943,630 (GRCm39) |
D5G |
possibly damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,636 (GRCm39) |
V322A |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,895,052 (GRCm39) |
Y130* |
probably null |
Het |
| Or5k15 |
A |
C |
16: 58,710,048 (GRCm39) |
H178Q |
probably damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,077,951 (GRCm39) |
M363K |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,480,329 (GRCm39) |
F137S |
probably damaging |
Het |
| Rbm12b1 |
A |
G |
4: 12,146,038 (GRCm39) |
D670G |
probably damaging |
Het |
| Rrp12 |
C |
A |
19: 41,860,231 (GRCm39) |
M997I |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,327,736 (GRCm39) |
V918A |
probably benign |
Het |
| Slc35g2 |
A |
G |
9: 100,434,516 (GRCm39) |
V385A |
probably damaging |
Het |
| Slit1 |
A |
T |
19: 41,590,739 (GRCm39) |
I1311N |
probably damaging |
Het |
| Ube2j2 |
C |
T |
4: 156,030,834 (GRCm39) |
|
probably benign |
Het |
| Ucp2 |
A |
G |
7: 100,147,629 (GRCm39) |
T203A |
probably benign |
Het |
| Upk1b |
C |
T |
16: 38,600,347 (GRCm39) |
G211D |
possibly damaging |
Het |
| Vmn1r220 |
A |
T |
13: 23,367,935 (GRCm39) |
F254I |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,965,638 (GRCm39) |
F314S |
probably damaging |
Het |
|
| Other mutations in Mrpl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4406:Mrpl4
|
UTSW |
9 |
20,918,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation