Incidental Mutation 'R3124:Trmt13'
| ID |
264189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt13
|
| Ensembl Gene |
ENSMUSG00000033439 |
| Gene Name |
tRNA methyltransferase 13 |
| Synonyms |
A930028L21Rik, Ccdc76, 4631408H19Rik |
| MMRRC Submission |
040597-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R3124 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
116374742-116408236 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116383893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 104
(I104V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029571]
[ENSMUST00000041524]
[ENSMUST00000134761]
[ENSMUST00000183638]
[ENSMUST00000184963]
[ENSMUST00000197190]
[ENSMUST00000198454]
[ENSMUST00000198386]
[ENSMUST00000197335]
[ENSMUST00000198311]
|
| AlphaFold |
Q8BYH3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029571
|
| SMART Domains |
Protein: ENSMUSP00000029571
Gene: ENSMUSG00000027959
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:SAS-6_N
|
44 |
141 |
1.7e-29 |
PFAM |
|
low complexity region
|
223 |
235 |
N/A |
INTRINSIC |
|
coiled coil region
|
415 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
644 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041524
AA Change: I104V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047320
Gene: ENSMUSG00000033439
AA Change: I104V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-TRM13_CCCH
|
17 |
45 |
7.2e-17 |
PFAM |
|
Pfam:zf-U11-48K
|
56 |
80 |
3.4e-12 |
PFAM |
|
Pfam:TRM13
|
165 |
469 |
7e-96 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124807
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134761
|
| SMART Domains |
Protein: ENSMUSP00000138761
Gene: ENSMUSG00000033439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-U11-48K
|
16 |
42 |
1.6e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156161
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183638
AA Change: I104V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139223
Gene: ENSMUSG00000033439
AA Change: I104V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-TRM13_CCCH
|
16 |
46 |
1.4e-17 |
PFAM |
|
Pfam:zf-U11-48K
|
55 |
81 |
1.2e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184963
AA Change: I104V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138868
Gene: ENSMUSG00000033439
AA Change: I104V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-TRM13_CCCH
|
16 |
46 |
2.9e-17 |
PFAM |
|
Pfam:zf-U11-48K
|
55 |
81 |
2.3e-12 |
PFAM |
|
Pfam:TRM13
|
165 |
285 |
3.4e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197190
AA Change: I55V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143637
Gene: ENSMUSG00000033439
AA Change: I55V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRM13
|
116 |
179 |
5.2e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198514
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198454
|
| SMART Domains |
Protein: ENSMUSP00000142410
Gene: ENSMUSG00000033439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-TRM13_CCCH
|
16 |
46 |
1.9e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198386
|
| SMART Domains |
Protein: ENSMUSP00000143175
Gene: ENSMUSG00000027959
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
PDB:2Y3W|C
|
15 |
171 |
1e-62 |
PDB |
|
low complexity region
|
223 |
235 |
N/A |
INTRINSIC |
|
coiled coil region
|
415 |
471 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197335
|
| SMART Domains |
Protein: ENSMUSP00000143123
Gene: ENSMUSG00000027959
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2Y3W|C
|
7 |
136 |
3e-48 |
PDB |
|
low complexity region
|
188 |
200 |
N/A |
INTRINSIC |
|
coiled coil region
|
380 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
609 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198311
|
| SMART Domains |
Protein: ENSMUSP00000143233
Gene: ENSMUSG00000027959
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
PDB:2Y3W|C
|
15 |
171 |
9e-62 |
PDB |
|
low complexity region
|
223 |
235 |
N/A |
INTRINSIC |
|
coiled coil region
|
415 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
644 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0580 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
G |
A |
2: 181,136,319 (GRCm39) |
R407H |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Cadm1 |
A |
G |
9: 47,710,775 (GRCm39) |
E226G |
possibly damaging |
Het |
| Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
| Cd80 |
T |
A |
16: 38,294,255 (GRCm39) |
V46E |
probably damaging |
Het |
| Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
| Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
| Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
| Drd3 |
T |
C |
16: 43,643,155 (GRCm39) |
F464L |
probably damaging |
Het |
| Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,966,006 (GRCm39) |
T140A |
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,293,738 (GRCm39) |
I101V |
probably benign |
Het |
| Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,578,244 (GRCm39) |
R434G |
possibly damaging |
Het |
| Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
| Iglc3 |
T |
C |
16: 18,884,345 (GRCm39) |
|
probably benign |
Het |
| Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,518,774 (GRCm39) |
D1860G |
probably damaging |
Het |
| Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,466,860 (GRCm39) |
I303V |
probably benign |
Het |
| Nipsnap2 |
G |
A |
5: 129,825,098 (GRCm39) |
|
probably null |
Het |
| Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
| Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Skil |
A |
G |
3: 31,151,487 (GRCm39) |
N3S |
probably benign |
Het |
| Tas2r129 |
A |
G |
6: 132,928,411 (GRCm39) |
N116S |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trim12a |
G |
T |
7: 103,950,063 (GRCm39) |
T292K |
probably benign |
Het |
| Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
| Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
| Vmn1r87 |
A |
G |
7: 12,865,493 (GRCm39) |
Y265H |
probably damaging |
Het |
| Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
possibly damaging |
Het |
|
| Other mutations in Trmt13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00926:Trmt13
|
APN |
3 |
116,383,884 (GRCm39) |
nonsense |
probably null |
|
|
IGL01516:Trmt13
|
APN |
3 |
116,383,459 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01732:Trmt13
|
APN |
3 |
116,375,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01783:Trmt13
|
APN |
3 |
116,376,561 (GRCm39) |
nonsense |
probably null |
|
|
IGL02470:Trmt13
|
APN |
3 |
116,383,877 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02492:Trmt13
|
APN |
3 |
116,376,192 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02531:Trmt13
|
APN |
3 |
116,385,840 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03156:Trmt13
|
APN |
3 |
116,379,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0394:Trmt13
|
UTSW |
3 |
116,376,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0446:Trmt13
|
UTSW |
3 |
116,376,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Trmt13
|
UTSW |
3 |
116,388,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2942:Trmt13
|
UTSW |
3 |
116,379,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3945:Trmt13
|
UTSW |
3 |
116,375,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3946:Trmt13
|
UTSW |
3 |
116,375,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4255:Trmt13
|
UTSW |
3 |
116,376,337 (GRCm39) |
nonsense |
probably null |
|
|
R4520:Trmt13
|
UTSW |
3 |
116,375,262 (GRCm39) |
splice site |
probably null |
|
|
R4609:Trmt13
|
UTSW |
3 |
116,388,476 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4678:Trmt13
|
UTSW |
3 |
116,383,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4679:Trmt13
|
UTSW |
3 |
116,383,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4703:Trmt13
|
UTSW |
3 |
116,388,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6526:Trmt13
|
UTSW |
3 |
116,385,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7064:Trmt13
|
UTSW |
3 |
116,376,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7079:Trmt13
|
UTSW |
3 |
116,376,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7308:Trmt13
|
UTSW |
3 |
116,388,388 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8347:Trmt13
|
UTSW |
3 |
116,376,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8491:Trmt13
|
UTSW |
3 |
116,376,228 (GRCm39) |
missense |
probably benign |
|
|
R8544:Trmt13
|
UTSW |
3 |
116,386,094 (GRCm39) |
splice site |
probably null |
|
|
R9108:Trmt13
|
UTSW |
3 |
116,375,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9208:Trmt13
|
UTSW |
3 |
116,376,356 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9492:Trmt13
|
UTSW |
3 |
116,388,281 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCTCACAACAGAGTCATTG -3'
(R):5'- TTGAGGCTGGGAAGTCATATTC -3'
Sequencing Primer
(F):5'- GCTCACAACAGAGTCATTGCAGTTG -3'
(R):5'- CTGGGAAGTCATATTCGGTGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation