Incidental Mutation 'R6400:Trmt10b'
| ID |
516124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt10b
|
| Ensembl Gene |
ENSMUSG00000035601 |
| Gene Name |
tRNA methyltransferase 10B |
| Synonyms |
2610042J10Rik, Rg9mtd3 |
| MMRRC Submission |
044547-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.276)
|
| Stock # |
R6400 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
45297127-45316131 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45308562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 239
(K239E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044673]
[ENSMUST00000107800]
[ENSMUST00000144781]
|
| AlphaFold |
Q9D075 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044673
AA Change: K241E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041052
Gene: ENSMUSG00000035601
AA Change: K241E
| 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 damaging
Transcript: ENSMUST00000107800
AA Change: K239E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103429
Gene: ENSMUSG00000035601
AA Change: K239E
| 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 benign
Transcript: ENSMUST00000144781
|
| SMART Domains |
Protein: ENSMUSP00000114832
Gene: ENSMUSG00000035601
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6656 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.2%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,638,435 (GRCm39) |
*160Q |
probably null |
Het |
| Aen |
G |
A |
7: 78,557,142 (GRCm39) |
G330E |
probably benign |
Het |
| Akap8l |
G |
A |
17: 32,555,294 (GRCm39) |
R262C |
probably damaging |
Het |
| Cbx8 |
G |
A |
11: 118,929,694 (GRCm39) |
Q300* |
probably null |
Het |
| Cd274 |
C |
T |
19: 29,362,808 (GRCm39) |
T290M |
probably damaging |
Het |
| Cd36 |
A |
C |
5: 18,019,721 (GRCm39) |
S127A |
probably damaging |
Het |
| Celf3 |
A |
G |
3: 94,387,593 (GRCm39) |
Y55C |
probably damaging |
Het |
| Clec1a |
A |
T |
6: 129,412,316 (GRCm39) |
|
probably null |
Het |
| Cog2 |
A |
T |
8: 125,277,045 (GRCm39) |
I684F |
probably damaging |
Het |
| Cyp2c65 |
C |
T |
19: 39,049,558 (GRCm39) |
L29F |
possibly damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Dytn |
A |
T |
1: 63,680,335 (GRCm39) |
L408* |
probably null |
Het |
| Flg |
A |
G |
3: 93,187,228 (GRCm39) |
T227A |
probably benign |
Het |
| Heatr4 |
T |
A |
12: 84,001,784 (GRCm39) |
K887M |
probably null |
Het |
| Hoxb1 |
C |
T |
11: 96,256,818 (GRCm39) |
Q56* |
probably null |
Het |
| Kcnh7 |
T |
A |
2: 62,569,688 (GRCm39) |
N736I |
probably damaging |
Het |
| Lgr4 |
T |
C |
2: 109,821,478 (GRCm39) |
V120A |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,458,397 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Map3k1 |
A |
T |
13: 111,892,259 (GRCm39) |
S999T |
probably damaging |
Het |
| Med12l |
T |
C |
3: 59,155,332 (GRCm39) |
F1171L |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,412,402 (GRCm39) |
S1783P |
unknown |
Het |
| Nbr1 |
T |
C |
11: 101,456,600 (GRCm39) |
L159P |
probably damaging |
Het |
| Nme9 |
T |
C |
9: 99,351,760 (GRCm39) |
F248S |
possibly damaging |
Het |
| Or4x11 |
C |
T |
2: 89,867,739 (GRCm39) |
L159F |
probably benign |
Het |
| Or6k2 |
T |
C |
1: 173,986,830 (GRCm39) |
S164P |
probably damaging |
Het |
| Rasgrf1 |
C |
T |
9: 89,873,683 (GRCm39) |
T664I |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,020,286 (GRCm39) |
D91G |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,080,157 (GRCm39) |
R514G |
probably null |
Het |
| Svep1 |
C |
A |
4: 58,049,169 (GRCm39) |
G3446V |
probably damaging |
Het |
| Tcte2 |
T |
A |
17: 13,942,714 (GRCm39) |
|
probably benign |
Het |
| Wdr70 |
A |
T |
15: 8,072,322 (GRCm39) |
S189T |
probably benign |
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 |
|
|
R2944:Trmt10b
|
UTSW |
4 |
45,300,445 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R4781:Trmt10b
|
UTSW |
4 |
45,305,817 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5802:Trmt10b
|
UTSW |
4 |
45,314,236 (GRCm39) |
unclassified |
probably benign |
|
|
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'- CCAGCAGGCTTTAAGTTGTG -3'
(R):5'- GCAAATGCCTCTACTGTACATGG -3'
Sequencing Primer
(F):5'- CAGCAGGCTTTAAGTTGTGTTGTTG -3'
(R):5'- AACGGCTGGAAGTTCCTG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation