Incidental Mutation 'R0381:Mrm1'
ID |
30979 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mrm1
|
Ensembl Gene |
ENSMUSG00000018405 |
Gene Name |
mitochondrial rRNA methyltransferase 1 |
Synonyms |
A530065E19Rik |
MMRRC Submission |
038587-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
R0381 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
84703887-84710341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84709509 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 183
(T183A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018549
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018549]
[ENSMUST00000047560]
[ENSMUST00000151496]
|
AlphaFold |
Q99J25 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018549
AA Change: T183A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000018549 Gene: ENSMUSG00000018405 AA Change: T183A
Domain | Start | End | E-Value | Type |
SpoU_sub_bind
|
49 |
127 |
3.31e-11 |
SMART |
Pfam:SpoU_methylase
|
143 |
299 |
3.2e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000047560
|
SMART Domains |
Protein: ENSMUSP00000043467 Gene: ENSMUSG00000034449
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
12 |
214 |
1.4e-46 |
PFAM |
Pfam:KR
|
13 |
154 |
1.7e-11 |
PFAM |
Pfam:Epimerase
|
14 |
251 |
4.8e-7 |
PFAM |
Pfam:adh_short_C2
|
18 |
245 |
1.8e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139076
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144104
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151496
|
SMART Domains |
Protein: ENSMUSP00000122267 Gene: ENSMUSG00000034449
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
12 |
49 |
6.3e-8 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
A |
G |
7: 45,757,858 (GRCm39) |
V1297A |
possibly damaging |
Het |
Agbl2 |
C |
T |
2: 90,614,442 (GRCm39) |
H25Y |
probably damaging |
Het |
Akap11 |
A |
T |
14: 78,750,990 (GRCm39) |
W466R |
probably benign |
Het |
Ccdc66 |
T |
A |
14: 27,213,890 (GRCm39) |
Q471L |
probably damaging |
Het |
Dennd1c |
G |
A |
17: 57,380,822 (GRCm39) |
A210V |
probably damaging |
Het |
F13b |
A |
G |
1: 139,438,597 (GRCm39) |
K334E |
probably damaging |
Het |
Fam186a |
A |
C |
15: 99,840,055 (GRCm39) |
I2063R |
probably damaging |
Het |
Fcrl5 |
T |
C |
3: 87,353,767 (GRCm39) |
Y371H |
probably damaging |
Het |
Fnbp1 |
C |
T |
2: 30,923,041 (GRCm39) |
G549D |
probably benign |
Het |
Fndc3a |
A |
G |
14: 72,794,067 (GRCm39) |
Y869H |
probably benign |
Het |
Gm7592 |
A |
G |
1: 85,454,437 (GRCm39) |
|
noncoding transcript |
Het |
Gucy2d |
C |
A |
7: 98,108,209 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
C |
T |
1: 150,479,562 (GRCm39) |
C4634Y |
probably damaging |
Het |
Kctd5 |
A |
G |
17: 24,278,194 (GRCm39) |
|
probably null |
Het |
Kics2 |
T |
C |
10: 121,581,280 (GRCm39) |
Y94H |
probably damaging |
Het |
Mettl24 |
C |
A |
10: 40,622,386 (GRCm39) |
H203N |
probably damaging |
Het |
Mitf |
A |
G |
6: 97,970,104 (GRCm39) |
E17G |
probably damaging |
Het |
Mmut |
T |
A |
17: 41,248,149 (GRCm39) |
W59R |
probably benign |
Het |
Mrc1 |
G |
A |
2: 14,312,720 (GRCm39) |
D881N |
probably benign |
Het |
Mylk |
G |
A |
16: 34,605,344 (GRCm39) |
|
probably null |
Het |
Nab2 |
G |
A |
10: 127,500,936 (GRCm39) |
A19V |
probably damaging |
Het |
Ntsr2 |
T |
A |
12: 16,709,719 (GRCm39) |
Y333* |
probably null |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Sypl2 |
T |
C |
3: 108,133,473 (GRCm39) |
E32G |
possibly damaging |
Het |
Tasp1 |
T |
C |
2: 139,793,403 (GRCm39) |
K258E |
probably damaging |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Tenm4 |
G |
T |
7: 96,555,088 (GRCm39) |
V2561F |
probably damaging |
Het |
Tmc1 |
T |
C |
19: 20,776,409 (GRCm39) |
Y650C |
probably damaging |
Het |
Trim34b |
T |
C |
7: 103,979,062 (GRCm39) |
L103P |
probably damaging |
Het |
Usp47 |
T |
C |
7: 111,662,600 (GRCm39) |
|
probably null |
Het |
Vmn1r201 |
T |
A |
13: 22,659,193 (GRCm39) |
W136R |
probably damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,268,264 (GRCm39) |
Y68* |
probably null |
Het |
Wscd2 |
T |
A |
5: 113,689,192 (GRCm39) |
L66Q |
probably damaging |
Het |
|
Other mutations in Mrm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0226:Mrm1
|
UTSW |
11 |
84,709,996 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0257:Mrm1
|
UTSW |
11 |
84,705,649 (GRCm39) |
splice site |
probably benign |
|
R0563:Mrm1
|
UTSW |
11 |
84,705,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R0715:Mrm1
|
UTSW |
11 |
84,705,639 (GRCm39) |
splice site |
probably benign |
|
R1710:Mrm1
|
UTSW |
11 |
84,709,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R4402:Mrm1
|
UTSW |
11 |
84,709,915 (GRCm39) |
missense |
probably damaging |
1.00 |
R4413:Mrm1
|
UTSW |
11 |
84,710,054 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5266:Mrm1
|
UTSW |
11 |
84,710,086 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5930:Mrm1
|
UTSW |
11 |
84,710,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R7833:Mrm1
|
UTSW |
11 |
84,709,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R9487:Mrm1
|
UTSW |
11 |
84,705,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R9504:Mrm1
|
UTSW |
11 |
84,710,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R9680:Mrm1
|
UTSW |
11 |
84,710,144 (GRCm39) |
missense |
possibly damaging |
0.92 |
X0017:Mrm1
|
UTSW |
11 |
84,705,749 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTCGTAGGAATCAATGCCACCAC -3'
(R):5'- TTCCTCGGCGTAGACAGAGTCATC -3'
Sequencing Primer
(F):5'- AATGCCACCACGTCCCTTC -3'
(R):5'- GCGTAGACAGAGTCATCACCAG -3'
|
Posted On |
2013-04-24 |