Incidental Mutation 'R3904:Mrm3'
| ID |
309113 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrm3
|
| Ensembl Gene |
ENSMUSG00000038046 |
| Gene Name |
mitochondrial rRNA methyltransferase 3 |
| Synonyms |
4833420N02Rik, Rnmtl1, HC90 |
| MMRRC Submission |
040812-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3904 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
76134562-76141451 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76135112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 108
(M108V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017430]
[ENSMUST00000040577]
[ENSMUST00000168055]
[ENSMUST00000170017]
[ENSMUST00000170710]
[ENSMUST00000169701]
[ENSMUST00000170590]
|
| AlphaFold |
Q5ND52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017430
|
| SMART Domains |
Protein: ENSMUSP00000017430
Gene: ENSMUSG00000017286
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyoxalase_2
|
143 |
256 |
1.1e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040577
AA Change: M108V
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000042882
Gene: ENSMUSG00000038046
AA Change: M108V
| Domain | Start | End | E-Value | Type |
|---|
|
SpoU_sub_bind
|
124 |
195 |
1.99e-5 |
SMART |
|
Pfam:SpoU_methylase
|
209 |
398 |
2.3e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125463
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155526
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164022
|
| SMART Domains |
Protein: ENSMUSP00000126699
Gene: ENSMUSG00000017286
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3ZI1|A
|
2 |
212 |
1e-143 |
PDB |
|
SCOP:d1mpya1
|
119 |
198 |
4e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167883
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168055
|
| SMART Domains |
Protein: ENSMUSP00000130675
Gene: ENSMUSG00000017286
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3ZI1|A
|
2 |
98 |
3e-61 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169532
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170017
|
| SMART Domains |
Protein: ENSMUSP00000132496
Gene: ENSMUSG00000017286
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qipa_
|
1 |
40 |
3e-5 |
SMART |
|
PDB:3ZI1|A
|
1 |
47 |
4e-25 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170710
|
| SMART Domains |
Protein: ENSMUSP00000131788
Gene: ENSMUSG00000017286
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyoxalase_2
|
124 |
237 |
6.1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169701
|
| SMART Domains |
Protein: ENSMUSP00000131174
Gene: ENSMUSG00000017286
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyoxalase_2
|
143 |
256 |
2.7e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170590
|
| SMART Domains |
Protein: ENSMUSP00000129009
Gene: ENSMUSG00000017286
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3ZI1|A
|
1 |
47 |
2e-23 |
PDB |
|
SCOP:d1mpya2
|
1 |
66 |
1e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.0700 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Efficient translation of mitochondrial-derived transcripts requires proper assembly of the large subunit of the mitochondrial ribosome. Central to the biogenesis of this large subunit is the A-loop of mitochondrial 16S rRNA, which is modified by three rRNA methyltransferases located near mtDNA nucleoids. The protein encoded by this gene methylates G(1370) of 16S rRNA, and this modification is necessary for proper ribosomal large subnit assembly. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
C |
3: 137,772,400 (GRCm39) |
I530L |
probably benign |
Het |
| 5930422O12Rik |
T |
C |
8: 33,919,467 (GRCm39) |
S96P |
probably damaging |
Het |
| Acot4 |
A |
G |
12: 84,090,101 (GRCm39) |
|
probably null |
Het |
| Alms1 |
A |
G |
6: 85,598,660 (GRCm39) |
D1631G |
probably benign |
Het |
| Amd1 |
C |
T |
10: 40,166,453 (GRCm39) |
R210H |
probably benign |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Anapc1 |
A |
G |
2: 128,484,439 (GRCm39) |
F1175S |
probably damaging |
Het |
| Ano4 |
A |
G |
10: 88,860,867 (GRCm39) |
F337S |
probably damaging |
Het |
| Bub1 |
A |
C |
2: 127,663,862 (GRCm39) |
I207S |
probably benign |
Het |
| Cfap53 |
T |
A |
18: 74,440,445 (GRCm39) |
L405M |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
| Esp3 |
A |
T |
17: 40,946,820 (GRCm39) |
T48S |
possibly damaging |
Het |
| Fmo1 |
G |
T |
1: 162,661,337 (GRCm39) |
N315K |
possibly damaging |
Het |
| Fsip2l |
T |
C |
X: 47,930,421 (GRCm39) |
N649S |
possibly damaging |
Het |
| Impg1 |
A |
G |
9: 80,252,867 (GRCm39) |
S438P |
possibly damaging |
Het |
| Jsrp1 |
T |
A |
10: 80,648,246 (GRCm39) |
M1L |
probably benign |
Het |
| Klra14-ps |
T |
A |
6: 130,129,512 (GRCm39) |
|
noncoding transcript |
Het |
| Mtf2 |
T |
A |
5: 108,228,866 (GRCm39) |
F61I |
probably damaging |
Het |
| Nat10 |
A |
T |
2: 103,556,592 (GRCm39) |
|
probably benign |
Het |
| Or2y10 |
T |
C |
11: 49,455,585 (GRCm39) |
I279T |
possibly damaging |
Het |
| Or7c70 |
T |
G |
10: 78,683,132 (GRCm39) |
I206L |
probably benign |
Het |
| Pcgf5 |
T |
C |
19: 36,417,495 (GRCm39) |
I140T |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,407,801 (GRCm39) |
L684P |
probably benign |
Het |
| Psmd10 |
T |
C |
X: 139,850,052 (GRCm39) |
*152W |
probably null |
Het |
| Ptpn23 |
A |
C |
9: 110,218,313 (GRCm39) |
M600R |
probably benign |
Het |
| Pxmp4 |
C |
T |
2: 154,429,969 (GRCm39) |
R140H |
probably damaging |
Het |
| Rnf112 |
T |
C |
11: 61,341,211 (GRCm39) |
E410G |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,830 (GRCm39) |
K144* |
probably null |
Het |
| Shld2 |
A |
G |
14: 33,981,666 (GRCm39) |
W491R |
probably damaging |
Het |
| Slc46a3 |
C |
T |
5: 147,823,264 (GRCm39) |
E193K |
probably benign |
Het |
| Snap23 |
A |
C |
2: 120,429,815 (GRCm39) |
D209A |
possibly damaging |
Het |
| Tg |
C |
T |
15: 66,638,011 (GRCm39) |
Q656* |
probably null |
Het |
| Tshz2 |
A |
G |
2: 169,726,307 (GRCm39) |
Y301C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,670,638 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
C |
T |
1: 66,678,455 (GRCm39) |
Q2011* |
probably null |
Het |
| Vwa3a |
A |
G |
7: 120,358,099 (GRCm39) |
T57A |
probably benign |
Het |
| Zfp518a |
C |
T |
19: 40,903,364 (GRCm39) |
Q1098* |
probably null |
Het |
|
| Other mutations in Mrm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Mrm3
|
APN |
11 |
76,135,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02712:Mrm3
|
APN |
11 |
76,134,683 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03349:Mrm3
|
APN |
11 |
76,140,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Sam-i-am
|
UTSW |
11 |
76,138,286 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
P0026:Mrm3
|
UTSW |
11 |
76,138,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0118:Mrm3
|
UTSW |
11 |
76,140,781 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1174:Mrm3
|
UTSW |
11 |
76,140,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2066:Mrm3
|
UTSW |
11 |
76,141,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:Mrm3
|
UTSW |
11 |
76,135,347 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5591:Mrm3
|
UTSW |
11 |
76,140,907 (GRCm39) |
missense |
probably benign |
|
|
R7343:Mrm3
|
UTSW |
11 |
76,140,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7346:Mrm3
|
UTSW |
11 |
76,141,002 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8010:Mrm3
|
UTSW |
11 |
76,141,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8355:Mrm3
|
UTSW |
11 |
76,141,164 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8461:Mrm3
|
UTSW |
11 |
76,135,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9001:Mrm3
|
UTSW |
11 |
76,141,234 (GRCm39) |
missense |
probably benign |
|
|
R9371:Mrm3
|
UTSW |
11 |
76,138,286 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9389:Mrm3
|
UTSW |
11 |
76,140,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9525:Mrm3
|
UTSW |
11 |
76,141,104 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1186:Mrm3
|
UTSW |
11 |
76,138,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Mrm3
|
UTSW |
11 |
76,138,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Mrm3
|
UTSW |
11 |
76,134,903 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Mrm3
|
UTSW |
11 |
76,138,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Mrm3
|
UTSW |
11 |
76,134,903 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Mrm3
|
UTSW |
11 |
76,138,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Mrm3
|
UTSW |
11 |
76,134,903 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Mrm3
|
UTSW |
11 |
76,138,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Mrm3
|
UTSW |
11 |
76,134,903 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Mrm3
|
UTSW |
11 |
76,138,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Mrm3
|
UTSW |
11 |
76,134,903 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTTGTCATCTGCTCCCG -3'
(R):5'- TAGGTCTGACCAATCCTTGATGTC -3'
Sequencing Primer
(F):5'- GTTTCTTTTCTTGCTTCACTGTG -3'
(R):5'- AATCCTTGATGTCCTCAAATTTCAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation