Incidental Mutation 'IGL02131:Mrpl9'
| ID |
281209 |
| 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: 0.951)
|
| Stock # |
IGL02131
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94350631-94355831 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 94352020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029786]
[ENSMUST00000196143]
[ENSMUST00000203883]
[ENSMUST00000204548]
|
| AlphaFold |
Q99N94 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029786
|
| SMART Domains |
Protein: ENSMUSP00000029786
Gene: ENSMUSG00000028140
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L9_N
|
91 |
138 |
4.3e-16 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000196143
|
| SMART Domains |
Protein: ENSMUSP00000142859
Gene: ENSMUSG00000028140
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
T |
A |
17: 79,935,084 (GRCm39) |
|
probably benign |
Het |
| Adamts19 |
A |
G |
18: 59,185,732 (GRCm39) |
Y1202C |
probably damaging |
Het |
| Adgrf1 |
T |
A |
17: 43,614,638 (GRCm39) |
F241I |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,621,149 (GRCm39) |
I901N |
probably damaging |
Het |
| Anxa8 |
A |
T |
14: 33,812,588 (GRCm39) |
D46V |
possibly damaging |
Het |
| Ap4e1 |
A |
G |
2: 126,903,849 (GRCm39) |
Y917C |
probably benign |
Het |
| Arhgap40 |
G |
A |
2: 158,373,859 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
G |
11: 117,963,734 (GRCm39) |
V2513A |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,370,009 (GRCm39) |
L4478P |
probably damaging |
Het |
| Dtx3 |
T |
C |
10: 127,029,148 (GRCm39) |
D30G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,199,868 (GRCm39) |
Y1069H |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,140,155 (GRCm39) |
N538K |
possibly damaging |
Het |
| Frem1 |
T |
C |
4: 82,843,091 (GRCm39) |
T1748A |
probably benign |
Het |
| Kcnh6 |
T |
C |
11: 105,911,001 (GRCm39) |
Y466H |
probably damaging |
Het |
| Kif2c |
G |
A |
4: 117,035,150 (GRCm39) |
S41L |
possibly damaging |
Het |
| Kir3dl2 |
T |
A |
X: 135,358,462 (GRCm39) |
H52L |
possibly damaging |
Het |
| Mageb18 |
A |
G |
X: 91,163,655 (GRCm39) |
C196R |
possibly damaging |
Het |
| Nt5c1b |
A |
G |
12: 10,425,491 (GRCm39) |
I345V |
possibly damaging |
Het |
| Or10a49 |
T |
C |
7: 108,467,415 (GRCm39) |
*315W |
probably null |
Het |
| Or2j3 |
T |
A |
17: 38,615,539 (GRCm39) |
H271L |
probably benign |
Het |
| Or8c11 |
A |
G |
9: 38,289,203 (GRCm39) |
T9A |
probably benign |
Het |
| Parp8 |
T |
C |
13: 117,047,409 (GRCm39) |
N221S |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,638,681 (GRCm39) |
|
probably benign |
Het |
| Recql5 |
C |
A |
11: 115,814,068 (GRCm39) |
W86L |
probably benign |
Het |
| Rgs6 |
T |
C |
12: 83,116,269 (GRCm39) |
S232P |
probably damaging |
Het |
| Rnf182 |
A |
G |
13: 43,821,818 (GRCm39) |
H123R |
probably benign |
Het |
| Rtf2 |
A |
G |
2: 172,308,212 (GRCm39) |
T204A |
unknown |
Het |
| Sema4d |
T |
C |
13: 51,856,973 (GRCm39) |
|
probably null |
Het |
| Septin8 |
T |
C |
11: 53,428,684 (GRCm39) |
S408P |
possibly damaging |
Het |
| Serpini1 |
A |
G |
3: 75,548,011 (GRCm39) |
N396D |
probably benign |
Het |
| Slc26a2 |
A |
C |
18: 61,331,884 (GRCm39) |
F516V |
possibly damaging |
Het |
| Tcf4 |
A |
G |
18: 69,697,697 (GRCm39) |
|
probably benign |
Het |
| Trrap |
G |
T |
5: 144,777,246 (GRCm39) |
G3045W |
probably damaging |
Het |
| Tspo2 |
T |
A |
17: 48,756,089 (GRCm39) |
T91S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,567,958 (GRCm39) |
D27645G |
probably damaging |
Het |
| Uba6 |
G |
T |
5: 86,297,936 (GRCm39) |
T246K |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Wwp2 |
T |
A |
8: 108,278,950 (GRCm39) |
M136K |
probably damaging |
Het |
| Zranb3 |
A |
T |
1: 127,920,688 (GRCm39) |
V412D |
probably damaging |
Het |
|
| Other mutations in Mrpl9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00590:Mrpl9
|
APN |
3 |
94,351,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01609:Mrpl9
|
APN |
3 |
94,352,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation