Incidental Mutation 'R8366:Trmt10c'
| ID |
646190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt10c
|
| Ensembl Gene |
ENSMUSG00000044763 |
| Gene Name |
tRNA methyltransferase 10C, mitochondrial RNase P subunit |
| Synonyms |
Rg9mtd1, 1300018J16Rik, D16Ertd454e |
| MMRRC Submission |
067737-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
R8366 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
55854083-55858149 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55854426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 403
(R403Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059052]
[ENSMUST00000114444]
[ENSMUST00000122253]
[ENSMUST00000125040]
[ENSMUST00000130818]
|
| AlphaFold |
Q3UFY8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059052
AA Change: R403Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000058954
Gene: ENSMUSG00000044763
AA Change: R403Q
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
133 |
171 |
N/A |
INTRINSIC |
|
Pfam:tRNA_m1G_MT
|
207 |
375 |
2e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114444
|
| SMART Domains |
Protein: ENSMUSP00000110087
Gene: ENSMUSG00000071533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCNP
|
22 |
171 |
4.8e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122253
|
| SMART Domains |
Protein: ENSMUSP00000113605
Gene: ENSMUSG00000071533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCNP
|
22 |
139 |
3.1e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125040
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130818
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the precursor of a subunit of the mitochondrial ribonuclease P, which is involved in 5' processing of mitochondrial tRNAs. The encoded protein may confer RNA-binding capacity to mitochondrial ribonuclease P and may be essential for transcript processing, RNA modification, translation and mitochondrial respiration. [provided by RefSeq, Nov 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
A |
11: 72,067,521 (GRCm39) |
Q590* |
probably null |
Het |
| Adnp2 |
T |
C |
18: 80,173,725 (GRCm39) |
D228G |
probably damaging |
Het |
| Adrb2 |
T |
A |
18: 62,311,775 (GRCm39) |
Y350F |
probably benign |
Het |
| Agbl4 |
T |
C |
4: 111,423,861 (GRCm39) |
S296P |
probably damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Ampd1 |
A |
T |
3: 102,995,810 (GRCm39) |
D240V |
probably damaging |
Het |
| Armh3 |
T |
C |
19: 45,920,793 (GRCm39) |
Y468C |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,419,707 (GRCm39) |
S838G |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,160,799 (GRCm39) |
F2056L |
probably benign |
Het |
| Cyp4x1 |
A |
T |
4: 114,970,063 (GRCm39) |
S381T |
probably benign |
Het |
| Ddx20 |
A |
G |
3: 105,594,695 (GRCm39) |
S17P |
probably benign |
Het |
| Dlgap4 |
C |
A |
2: 156,542,694 (GRCm39) |
Y32* |
probably null |
Het |
| Dmbt1 |
T |
C |
7: 130,668,330 (GRCm39) |
F529L |
unknown |
Het |
| Ei24 |
A |
G |
9: 36,697,800 (GRCm39) |
S117P |
possibly damaging |
Het |
| Esyt1 |
T |
G |
10: 128,352,422 (GRCm39) |
N730H |
possibly damaging |
Het |
| Gcfc2 |
A |
G |
6: 81,900,782 (GRCm39) |
E32G |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,125,699 (GRCm39) |
I2952T |
|
Het |
| Mkrn3 |
A |
T |
7: 62,069,543 (GRCm39) |
S83T |
probably benign |
Het |
| Ncoa2 |
T |
A |
1: 13,250,830 (GRCm39) |
D284V |
probably damaging |
Het |
| Or10w1 |
A |
G |
19: 13,631,903 (GRCm39) |
S37G |
probably damaging |
Het |
| Osmr |
T |
A |
15: 6,850,435 (GRCm39) |
T724S |
possibly damaging |
Het |
| Pex1 |
A |
G |
5: 3,676,007 (GRCm39) |
E825G |
probably benign |
Het |
| Ranbp6 |
A |
G |
19: 29,789,299 (GRCm39) |
L351P |
probably damaging |
Het |
| Rbm20 |
C |
T |
19: 53,838,612 (GRCm39) |
T863I |
possibly damaging |
Het |
| Rcbtb2 |
T |
C |
14: 73,444,632 (GRCm39) |
S506P |
probably benign |
Het |
| Rdh12 |
T |
A |
12: 79,258,288 (GRCm39) |
I105N |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,267,195 (GRCm39) |
I299V |
possibly damaging |
Het |
| Rpap3 |
C |
T |
15: 97,579,548 (GRCm39) |
R488K |
probably benign |
Het |
| Rps6kb1 |
A |
C |
11: 86,402,655 (GRCm39) |
V346G |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,377,816 (GRCm39) |
S544P |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,865,566 (GRCm39) |
V162E |
probably damaging |
Het |
| Slc16a10 |
A |
G |
10: 39,952,867 (GRCm39) |
V209A |
probably benign |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| Teddm2 |
G |
T |
1: 153,726,575 (GRCm39) |
H47N |
probably damaging |
Het |
| Tmem74 |
C |
T |
15: 43,730,315 (GRCm39) |
G243R |
probably damaging |
Het |
| Vps11 |
A |
T |
9: 44,267,052 (GRCm39) |
Y394* |
probably null |
Het |
| Zscan10 |
G |
T |
17: 23,828,952 (GRCm39) |
R498L |
probably damaging |
Het |
|
| Other mutations in Trmt10c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0294:Trmt10c
|
UTSW |
16 |
55,855,240 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1779:Trmt10c
|
UTSW |
16 |
55,854,938 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4948:Trmt10c
|
UTSW |
16 |
55,854,438 (GRCm39) |
nonsense |
probably null |
|
|
R5539:Trmt10c
|
UTSW |
16 |
55,855,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6734:Trmt10c
|
UTSW |
16 |
55,854,489 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7380:Trmt10c
|
UTSW |
16 |
55,854,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7678:Trmt10c
|
UTSW |
16 |
55,855,302 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7863:Trmt10c
|
UTSW |
16 |
55,855,554 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8235:Trmt10c
|
UTSW |
16 |
55,854,939 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8354:Trmt10c
|
UTSW |
16 |
55,854,870 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8778:Trmt10c
|
UTSW |
16 |
55,855,372 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8816:Trmt10c
|
UTSW |
16 |
55,854,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9007:Trmt10c
|
UTSW |
16 |
55,855,542 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9258:Trmt10c
|
UTSW |
16 |
55,854,646 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTACATGGAAATCCTGTTGC -3'
(R):5'- ATAGCAACAGAGTGCCTTCC -3'
Sequencing Primer
(F):5'- GGCAAACCTCTACTGTTAGT -3'
(R):5'- TTGTTCCCAGGAGAAAGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation