Incidental Mutation 'R3119:Mrpl9'
| ID |
477751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrpl9
|
| Ensembl Gene |
ENSMUSG00000028140 |
| Gene Name |
mitochondrial ribosomal protein L9 |
| Synonyms |
C330013D18Rik, 8030480E20Rik |
| MMRRC Submission |
040592-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R3119 (G1)
|
| Quality Score |
194 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
94350631-94355831 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94355097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 223
(N223I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029786]
[ENSMUST00000196143]
[ENSMUST00000203883]
[ENSMUST00000204548]
|
| AlphaFold |
Q99N94 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029786
AA Change: N223I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029786
Gene: ENSMUSG00000028140
AA Change: N223I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L9_N
|
91 |
138 |
4.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1a4 |
A |
G |
1: 172,067,393 (GRCm39) |
F580L |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,504,656 (GRCm39) |
T532A |
probably benign |
Het |
| Cstf1 |
A |
G |
2: 172,214,990 (GRCm39) |
E37G |
possibly damaging |
Het |
| Cubn |
A |
C |
2: 13,362,973 (GRCm39) |
F1679L |
possibly damaging |
Het |
| Dqx1 |
C |
A |
6: 83,043,216 (GRCm39) |
S651* |
probably null |
Het |
| Fhad1 |
CG |
C |
4: 141,645,618 (GRCm39) |
|
probably null |
Het |
| Gata3 |
T |
C |
2: 9,882,396 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
G |
A |
17: 68,732,669 (GRCm39) |
E50K |
probably benign |
Het |
| Man1a |
T |
A |
10: 53,906,890 (GRCm39) |
M295L |
probably damaging |
Het |
| Mbip |
A |
G |
12: 56,392,488 (GRCm39) |
V33A |
probably benign |
Het |
| Nrxn1 |
G |
A |
17: 90,904,947 (GRCm39) |
Q219* |
probably null |
Het |
| Or8g51 |
T |
A |
9: 38,608,955 (GRCm39) |
K236* |
probably null |
Het |
| Prss12 |
A |
T |
3: 123,298,976 (GRCm39) |
T583S |
possibly damaging |
Het |
| Rgs10 |
T |
C |
7: 128,004,955 (GRCm39) |
E65G |
probably damaging |
Het |
| Spata31e3 |
A |
T |
13: 50,401,005 (GRCm39) |
Y440* |
probably null |
Het |
| Syne2 |
T |
A |
12: 75,956,058 (GRCm39) |
M588K |
probably benign |
Het |
| Tmem135 |
A |
G |
7: 88,797,005 (GRCm39) |
S364P |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,560,184 (GRCm39) |
M369T |
possibly damaging |
Het |
| Vwa3b |
G |
A |
1: 37,148,158 (GRCm39) |
V437I |
possibly damaging |
Het |
| Zfp418 |
A |
G |
7: 7,184,688 (GRCm39) |
H217R |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2017-05-15 |
Incidental Mutation