Incidental Mutation 'IGL01088:Mrpl4'
| ID |
51892 |
| 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 # |
IGL01088
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
20914034-20920135 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20914627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 68
(S68P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003386]
[ENSMUST00000214124]
[ENSMUST00000216175]
[ENSMUST00000216824]
|
| AlphaFold |
Q9DCU6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003386
AA Change: S68P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000003386
Gene: ENSMUSG00000003299
AA Change: S68P
| 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 damaging
Transcript: ENSMUST00000214124
AA Change: S68P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216175
AA Change: S68P
PolyPhen 2
Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216325
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216466
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000216818
AA Change: S67P
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216824
AA Change: S68P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
C |
T |
10: 89,561,703 (GRCm39) |
V148I |
probably damaging |
Het |
| Aspn |
G |
T |
13: 49,720,029 (GRCm39) |
K348N |
probably benign |
Het |
| C1qtnf9 |
T |
C |
14: 61,017,205 (GRCm39) |
V245A |
probably benign |
Het |
| Cfhr4 |
T |
C |
1: 139,625,823 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
T |
C |
6: 125,099,431 (GRCm39) |
|
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,390,381 (GRCm39) |
C187S |
probably damaging |
Het |
| Dcxr |
T |
C |
11: 120,616,993 (GRCm39) |
I123M |
possibly damaging |
Het |
| Fstl1 |
T |
C |
16: 37,647,175 (GRCm39) |
Y182H |
probably damaging |
Het |
| Ghrhr |
T |
C |
6: 55,356,178 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
C |
11: 97,228,627 (GRCm39) |
E1176G |
probably damaging |
Het |
| H2-T22 |
A |
G |
17: 36,352,811 (GRCm39) |
S99P |
probably damaging |
Het |
| Igkv4-79 |
T |
A |
6: 69,020,110 (GRCm39) |
K68N |
probably damaging |
Het |
| Kpna6 |
C |
T |
4: 129,549,276 (GRCm39) |
V169I |
probably damaging |
Het |
| Krit1 |
G |
T |
5: 3,862,844 (GRCm39) |
V278F |
probably damaging |
Het |
| Mylk3 |
A |
C |
8: 86,078,586 (GRCm39) |
|
probably null |
Het |
| Nfasc |
A |
T |
1: 132,570,514 (GRCm39) |
|
probably benign |
Het |
| Ntsr1 |
T |
C |
2: 180,184,335 (GRCm39) |
F346S |
probably damaging |
Het |
| Or10ak11 |
A |
G |
4: 118,686,989 (GRCm39) |
V216A |
probably benign |
Het |
| Or5b107 |
T |
C |
19: 13,142,735 (GRCm39) |
M119T |
probably damaging |
Het |
| Phox2a |
T |
C |
7: 101,470,942 (GRCm39) |
F145L |
probably damaging |
Het |
| Rbm7 |
A |
G |
9: 48,402,149 (GRCm39) |
V146A |
probably damaging |
Het |
| Sall3 |
A |
T |
18: 81,016,447 (GRCm39) |
Y494N |
probably damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,455,004 (GRCm39) |
|
probably benign |
Het |
| Stard7 |
T |
C |
2: 127,112,746 (GRCm39) |
L4P |
probably damaging |
Het |
| Stk-ps2 |
A |
T |
1: 46,069,010 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem67 |
G |
A |
4: 12,063,126 (GRCm39) |
R507C |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,839,563 (GRCm39) |
D429E |
possibly damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,985,356 (GRCm39) |
|
probably null |
Het |
| Vmn1r171 |
T |
C |
7: 23,332,252 (GRCm39) |
V159A |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,031,159 (GRCm39) |
E927G |
probably benign |
Het |
| Zfp820 |
T |
A |
17: 22,040,162 (GRCm39) |
K16* |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,381,790 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
2013-06-21 |
Incidental Mutation