Incidental Mutation 'IGL00590:Mrpl9'
ID |
12090 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mrpl9
|
Ensembl Gene |
ENSMUSG00000028140 |
Gene Name |
mitochondrial ribosomal protein L9 |
Synonyms |
C330013D18Rik, 8030480E20Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.953)
|
Stock # |
IGL00590
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
94350631-94355831 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94351003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 61
(L61P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142859
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029786]
[ENSMUST00000196143]
[ENSMUST00000203883]
[ENSMUST00000204548]
|
AlphaFold |
Q99N94 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029786
AA Change: L61P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029786 Gene: ENSMUSG00000028140 AA Change: L61P
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L9_N
|
91 |
138 |
4.3e-16 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098876
AA Change: L61P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096475 Gene: ENSMUSG00000028140 AA Change: L61P
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L9_N
|
91 |
137 |
2.2e-17 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000196143
AA Change: L61P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142859 Gene: ENSMUSG00000028140 AA Change: L61P
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L9_N
|
91 |
138 |
5.2e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199009
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203883
|
SMART Domains |
Protein: ENSMUSP00000145484 Gene: ENSMUSG00000028141
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
Pfam:ODC_AZ
|
91 |
189 |
4.3e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204548
|
SMART Domains |
Protein: ENSMUSP00000145079 Gene: ENSMUSG00000028141
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This is a nuclear gene encoding a protein component of the 39S subunit of the mitochondrial ribosome. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Jul 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
G |
7: 120,023,038 (GRCm39) |
F58C |
probably damaging |
Het |
Adgrf5 |
G |
T |
17: 43,764,038 (GRCm39) |
G1320V |
probably damaging |
Het |
Akap13 |
A |
G |
7: 75,260,417 (GRCm39) |
K211E |
probably benign |
Het |
Akap8l |
T |
C |
17: 32,552,071 (GRCm39) |
D402G |
possibly damaging |
Het |
Akna |
T |
C |
4: 63,290,115 (GRCm39) |
I1198V |
probably benign |
Het |
Apaf1 |
T |
A |
10: 90,859,650 (GRCm39) |
I832F |
probably damaging |
Het |
Cbl |
A |
C |
9: 44,112,495 (GRCm39) |
L67V |
probably damaging |
Het |
Chl1 |
T |
C |
6: 103,670,022 (GRCm39) |
Y471H |
probably benign |
Het |
Cystm1 |
T |
A |
18: 36,499,728 (GRCm39) |
Y48N |
unknown |
Het |
Dennd5b |
T |
C |
6: 148,969,806 (GRCm39) |
T216A |
probably benign |
Het |
Dpep2 |
A |
T |
8: 106,715,453 (GRCm39) |
M356K |
probably damaging |
Het |
Dtymk |
A |
G |
1: 93,722,446 (GRCm39) |
|
probably null |
Het |
Fam91a1 |
A |
G |
15: 58,287,565 (GRCm39) |
D4G |
possibly damaging |
Het |
Fbxl20 |
A |
G |
11: 97,983,955 (GRCm39) |
L306P |
probably damaging |
Het |
Fchsd1 |
C |
T |
18: 38,098,946 (GRCm39) |
|
probably benign |
Het |
Fndc1 |
G |
A |
17: 7,983,933 (GRCm39) |
T1331I |
unknown |
Het |
Gpatch8 |
T |
C |
11: 102,371,375 (GRCm39) |
D721G |
unknown |
Het |
Gsg1 |
A |
T |
6: 135,221,348 (GRCm39) |
I17N |
possibly damaging |
Het |
Heyl |
A |
G |
4: 123,140,423 (GRCm39) |
*327W |
probably null |
Het |
Kif13b |
G |
T |
14: 65,016,911 (GRCm39) |
R1359L |
probably damaging |
Het |
Map3k14 |
C |
T |
11: 103,128,380 (GRCm39) |
G414S |
probably damaging |
Het |
Meis2 |
C |
T |
2: 115,699,274 (GRCm39) |
A330T |
probably damaging |
Het |
Mrps6 |
A |
G |
16: 91,896,548 (GRCm39) |
N38D |
probably benign |
Het |
Muc4 |
C |
T |
16: 32,575,465 (GRCm39) |
T1407I |
probably benign |
Het |
Nup107 |
A |
G |
10: 117,599,708 (GRCm39) |
Y604H |
probably damaging |
Het |
Pgm2l1 |
T |
C |
7: 99,904,826 (GRCm39) |
|
probably null |
Het |
Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
Rb1cc1 |
T |
C |
1: 6,308,520 (GRCm39) |
F52S |
probably damaging |
Het |
Rnft1 |
T |
A |
11: 86,386,740 (GRCm39) |
W383R |
probably damaging |
Het |
Tas2r104 |
A |
T |
6: 131,662,530 (GRCm39) |
W60R |
probably damaging |
Het |
Tlr11 |
A |
G |
14: 50,598,373 (GRCm39) |
T120A |
probably benign |
Het |
Tmem150b |
T |
G |
7: 4,726,896 (GRCm39) |
I71L |
probably benign |
Het |
Zfp296 |
A |
G |
7: 19,311,760 (GRCm39) |
D89G |
possibly damaging |
Het |
|
Other mutations in Mrpl9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01609:Mrpl9
|
APN |
3 |
94,352,001 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02131:Mrpl9
|
APN |
3 |
94,352,020 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02212:Mrpl9
|
APN |
3 |
94,351,124 (GRCm39) |
splice site |
probably null |
|
IGL02976:Mrpl9
|
APN |
3 |
94,355,084 (GRCm39) |
unclassified |
probably benign |
|
PIT4382001:Mrpl9
|
UTSW |
3 |
94,355,136 (GRCm39) |
missense |
probably benign |
|
R0445:Mrpl9
|
UTSW |
3 |
94,352,198 (GRCm39) |
unclassified |
probably benign |
|
R2424:Mrpl9
|
UTSW |
3 |
94,351,113 (GRCm39) |
missense |
probably benign |
0.08 |
R2914:Mrpl9
|
UTSW |
3 |
94,351,108 (GRCm39) |
missense |
probably damaging |
0.99 |
R3119:Mrpl9
|
UTSW |
3 |
94,355,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R3724:Mrpl9
|
UTSW |
3 |
94,355,073 (GRCm39) |
splice site |
probably null |
|
R5801:Mrpl9
|
UTSW |
3 |
94,355,103 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6286:Mrpl9
|
UTSW |
3 |
94,351,097 (GRCm39) |
missense |
probably benign |
0.07 |
R6767:Mrpl9
|
UTSW |
3 |
94,357,528 (GRCm39) |
unclassified |
probably benign |
|
R6824:Mrpl9
|
UTSW |
3 |
94,350,677 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7130:Mrpl9
|
UTSW |
3 |
94,354,597 (GRCm39) |
missense |
probably benign |
0.09 |
R7705:Mrpl9
|
UTSW |
3 |
94,351,075 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8052:Mrpl9
|
UTSW |
3 |
94,351,050 (GRCm39) |
missense |
probably damaging |
0.96 |
R8744:Mrpl9
|
UTSW |
3 |
94,355,082 (GRCm39) |
unclassified |
probably benign |
|
R8765:Mrpl9
|
UTSW |
3 |
94,355,129 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9084:Mrpl9
|
UTSW |
3 |
94,354,558 (GRCm39) |
unclassified |
probably benign |
|
R9214:Mrpl9
|
UTSW |
3 |
94,355,126 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9701:Mrpl9
|
UTSW |
3 |
94,351,892 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1177:Mrpl9
|
UTSW |
3 |
94,350,680 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2012-12-06 |