Incidental Mutation 'R6286:Mrpl9'
| ID |
508220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrpl9
|
| Ensembl Gene |
ENSMUSG00000028140 |
| Gene Name |
mitochondrial ribosomal protein L9 |
| Synonyms |
C330013D18Rik, 8030480E20Rik |
| MMRRC Submission |
044456-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R6286 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94350631-94355831 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 94351097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 92
(E92D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029786]
[ENSMUST00000196143]
[ENSMUST00000203883]
[ENSMUST00000204548]
|
| AlphaFold |
Q99N94 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029786
AA Change: E92D
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000029786
Gene: ENSMUSG00000028140
AA Change: E92D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L9_N
|
91 |
138 |
4.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196143
AA Change: E92D
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000142859
Gene: ENSMUSG00000028140
AA Change: E92D
| 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 |
|
| Meta Mutation Damage Score |
0.0966 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (40/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
T |
A |
17: 72,187,842 (GRCm39) |
M1300L |
probably damaging |
Het |
| C3 |
A |
T |
17: 57,531,118 (GRCm39) |
I356N |
probably damaging |
Het |
| Cntnap5b |
T |
A |
1: 100,182,798 (GRCm39) |
S276T |
possibly damaging |
Het |
| Cts7 |
C |
T |
13: 61,500,584 (GRCm39) |
G321E |
probably damaging |
Het |
| Cyp11a1 |
G |
A |
9: 57,924,701 (GRCm39) |
|
probably benign |
Het |
| Ddx4 |
T |
C |
13: 112,750,269 (GRCm39) |
T421A |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,078,049 (GRCm39) |
T694A |
probably damaging |
Het |
| Eif3b |
G |
T |
5: 140,405,566 (GRCm39) |
D151Y |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,648,209 (GRCm39) |
E219V |
probably damaging |
Het |
| Gdf2 |
C |
T |
14: 33,667,057 (GRCm39) |
R260C |
probably damaging |
Het |
| Gm14295 |
T |
C |
2: 176,501,361 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Gm45861 |
A |
G |
8: 28,019,619 (GRCm39) |
T745A |
unknown |
Het |
| Grin2a |
G |
A |
16: 9,579,639 (GRCm39) |
T208I |
possibly damaging |
Het |
| Ide |
T |
A |
19: 37,255,409 (GRCm39) |
Y798F |
unknown |
Het |
| Llgl1 |
G |
A |
11: 60,600,358 (GRCm39) |
G569D |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,555,685 (GRCm39) |
H3536L |
unknown |
Het |
| Nasp |
T |
C |
4: 116,461,985 (GRCm39) |
Y526C |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,986,728 (GRCm39) |
N404D |
probably damaging |
Het |
| Nsrp1 |
A |
G |
11: 76,940,269 (GRCm39) |
I112T |
probably damaging |
Het |
| Or6c7 |
T |
C |
10: 129,323,497 (GRCm39) |
L206P |
probably damaging |
Het |
| Or8b8 |
A |
T |
9: 37,809,074 (GRCm39) |
I125F |
probably damaging |
Het |
| Oxsr1 |
A |
G |
9: 119,093,948 (GRCm39) |
V235A |
probably damaging |
Het |
| Pamr1 |
C |
T |
2: 102,471,293 (GRCm39) |
Q539* |
probably null |
Het |
| Pramel20 |
T |
A |
4: 143,297,796 (GRCm39) |
V72D |
probably benign |
Het |
| Ptpn4 |
A |
G |
1: 119,649,592 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
C |
T |
10: 58,315,394 (GRCm39) |
A2038V |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Septin5 |
A |
G |
16: 18,442,127 (GRCm39) |
V253A |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,291,359 (GRCm39) |
L993P |
probably damaging |
Het |
| Slc22a13 |
C |
A |
9: 119,037,778 (GRCm39) |
E117* |
probably null |
Het |
| Slc9c1 |
T |
C |
16: 45,398,194 (GRCm39) |
I653T |
probably benign |
Het |
| Slco6c1 |
T |
A |
1: 97,053,445 (GRCm39) |
H152L |
possibly damaging |
Het |
| Sp2 |
A |
C |
11: 96,852,372 (GRCm39) |
V184G |
probably benign |
Het |
| Taok1 |
T |
A |
11: 77,444,599 (GRCm39) |
H492L |
probably benign |
Het |
| Tas2r110 |
G |
A |
6: 132,845,490 (GRCm39) |
D174N |
probably benign |
Het |
| Trim24 |
G |
A |
6: 37,896,426 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
A |
2: 76,581,321 (GRCm39) |
R21445* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,605,967 (GRCm39) |
Y16502H |
probably damaging |
Het |
| Vmn2r84 |
A |
C |
10: 130,226,737 (GRCm39) |
M367R |
possibly damaging |
Het |
| Zfp46 |
T |
C |
4: 136,018,320 (GRCm39) |
S385P |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- TTGTTCTCTGCGGACACTCG -3'
(R):5'- CGAACTGTTAGGCTTCTCTTTACACAG -3'
Sequencing Primer
(F):5'- GGACACTCGCTCACCCCAG -3'
(R):5'- GTTAGGCTTCTCTTTACACAGTTAAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation