Incidental Mutation 'R2944:Trmt10b'
| ID |
264615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt10b
|
| Ensembl Gene |
ENSMUSG00000035601 |
| Gene Name |
tRNA methyltransferase 10B |
| Synonyms |
2610042J10Rik, Rg9mtd3 |
| MMRRC Submission |
040518-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.276)
|
| Stock # |
R2944 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
45297127-45316131 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to G
at 45300445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044673]
[ENSMUST00000107800]
[ENSMUST00000144781]
|
| AlphaFold |
Q9D075 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044673
AA Change: M1V
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000041052
Gene: ENSMUSG00000035601
AA Change: M1V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
Pfam:tRNA_m1G_MT
|
135 |
308 |
2.6e-46 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107800
AA Change: M1V
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103429
Gene: ENSMUSG00000035601
AA Change: M1V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
120 |
N/A |
INTRINSIC |
|
Pfam:tRNA_m1G_MT
|
133 |
306 |
1.6e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142785
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000144781
AA Change: M1V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114832
Gene: ENSMUSG00000035601
AA Change: M1V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
T |
C |
7: 133,577,236 (GRCm39) |
M179V |
probably null |
Het |
| Alms1 |
C |
T |
6: 85,605,373 (GRCm39) |
T2341I |
probably damaging |
Het |
| Bpnt1 |
A |
G |
1: 185,084,406 (GRCm39) |
T168A |
probably damaging |
Het |
| Cdcp2 |
A |
C |
4: 106,959,755 (GRCm39) |
S57R |
possibly damaging |
Het |
| Cmya5 |
T |
A |
13: 93,229,350 (GRCm39) |
K1913* |
probably null |
Het |
| Coro1c |
C |
G |
5: 113,988,861 (GRCm39) |
G161R |
probably damaging |
Het |
| Csnk1a1 |
T |
C |
18: 61,711,760 (GRCm39) |
M258T |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,550,333 (GRCm39) |
C3318R |
probably damaging |
Het |
| Fyco1 |
A |
T |
9: 123,655,713 (GRCm39) |
M1015K |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,020,196 (GRCm39) |
S290P |
probably damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Lce1i |
G |
A |
3: 92,685,063 (GRCm39) |
P38S |
unknown |
Het |
| Nup210l |
T |
A |
3: 90,088,852 (GRCm39) |
S1156T |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,234 (GRCm39) |
S263T |
possibly damaging |
Het |
| Sec14l5 |
T |
A |
16: 4,998,697 (GRCm39) |
I579N |
probably benign |
Het |
| Semp2l2a |
A |
T |
8: 13,887,212 (GRCm39) |
L293Q |
probably damaging |
Het |
| Sh3tc1 |
C |
A |
5: 35,871,504 (GRCm39) |
V107L |
probably damaging |
Het |
| Tmprss11a |
T |
G |
5: 86,576,511 (GRCm39) |
R113S |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,850,406 (GRCm39) |
E791G |
probably damaging |
Het |
| Uspl1 |
T |
C |
5: 149,138,606 (GRCm39) |
L328P |
probably damaging |
Het |
| Utrn |
G |
T |
10: 12,519,163 (GRCm39) |
T2263K |
probably damaging |
Het |
|
| Other mutations in Trmt10b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01064:Trmt10b
|
APN |
4 |
45,314,347 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01743:Trmt10b
|
APN |
4 |
45,305,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02012:Trmt10b
|
APN |
4 |
45,315,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02174:Trmt10b
|
APN |
4 |
45,308,508 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0454:Trmt10b
|
UTSW |
4 |
45,304,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0506:Trmt10b
|
UTSW |
4 |
45,304,306 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1757:Trmt10b
|
UTSW |
4 |
45,307,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Trmt10b
|
UTSW |
4 |
45,314,378 (GRCm39) |
nonsense |
probably null |
|
|
R4781:Trmt10b
|
UTSW |
4 |
45,305,817 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5802:Trmt10b
|
UTSW |
4 |
45,314,236 (GRCm39) |
unclassified |
probably benign |
|
|
R6400:Trmt10b
|
UTSW |
4 |
45,308,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6460:Trmt10b
|
UTSW |
4 |
45,314,322 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7165:Trmt10b
|
UTSW |
4 |
45,308,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Trmt10b
|
UTSW |
4 |
45,308,520 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8399:Trmt10b
|
UTSW |
4 |
45,305,870 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8805:Trmt10b
|
UTSW |
4 |
45,301,281 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9778:Trmt10b
|
UTSW |
4 |
45,314,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGTCCTCTGAGAAGTGTG -3'
(R):5'- CAAGCTCACAGGACCTACTG -3'
Sequencing Primer
(F):5'- CTCTGAGAAGTGTGCGGCTTC -3'
(R):5'- GCTCACAGGACCTACTGAGCTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation