Incidental Mutation 'IGL02470:Trmt13'
ID |
294706 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trmt13
|
Ensembl Gene |
ENSMUSG00000033439 |
Gene Name |
tRNA methyltransferase 13 |
Synonyms |
A930028L21Rik, Ccdc76, 4631408H19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.151)
|
Stock # |
IGL02470
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
116374742-116408236 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to C
at 116383877 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143637
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029571]
[ENSMUST00000041524]
[ENSMUST00000134761]
[ENSMUST00000183638]
[ENSMUST00000184963]
[ENSMUST00000197190]
[ENSMUST00000198454]
[ENSMUST00000198311]
[ENSMUST00000197335]
[ENSMUST00000198386]
|
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 null
Transcript: ENSMUST00000041524
|
SMART Domains |
Protein: ENSMUSP00000047320 Gene: ENSMUSG00000033439
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
|
SMART Domains |
Protein: ENSMUSP00000139223 Gene: ENSMUSG00000033439
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
|
SMART Domains |
Protein: ENSMUSP00000138868 Gene: ENSMUSG00000033439
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 null
Transcript: ENSMUST00000197190
|
SMART Domains |
Protein: ENSMUSP00000143637 Gene: ENSMUSG00000033439
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: 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 |
|
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: 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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy10 |
A |
G |
1: 165,395,295 (GRCm39) |
Y1422C |
probably damaging |
Het |
Adnp |
T |
A |
2: 168,025,114 (GRCm39) |
K727I |
probably damaging |
Het |
Akr1c21 |
A |
T |
13: 4,627,406 (GRCm39) |
N167Y |
probably damaging |
Het |
Arl4a |
T |
C |
12: 40,086,747 (GRCm39) |
|
probably benign |
Het |
BB014433 |
A |
T |
8: 15,092,803 (GRCm39) |
F17I |
unknown |
Het |
Best1 |
T |
C |
19: 9,970,340 (GRCm39) |
S91G |
probably benign |
Het |
Ccdc148 |
A |
T |
2: 58,891,911 (GRCm39) |
S235T |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dcc |
A |
T |
18: 72,088,153 (GRCm39) |
|
probably benign |
Het |
Dnajc13 |
G |
A |
9: 104,052,946 (GRCm39) |
T1672I |
probably benign |
Het |
Elf3 |
A |
T |
1: 135,182,750 (GRCm39) |
F325Y |
probably damaging |
Het |
Enpp2 |
A |
G |
15: 54,702,856 (GRCm39) |
L880P |
probably damaging |
Het |
Fndc3b |
A |
G |
3: 27,515,869 (GRCm39) |
Y646H |
probably damaging |
Het |
Fzd6 |
A |
T |
15: 38,899,952 (GRCm39) |
|
probably benign |
Het |
Gnb1 |
T |
A |
4: 155,611,970 (GRCm39) |
|
probably benign |
Het |
Mast1 |
C |
A |
8: 85,647,841 (GRCm39) |
G511V |
probably damaging |
Het |
Mcmbp |
T |
C |
7: 128,306,345 (GRCm39) |
I424M |
possibly damaging |
Het |
Mobp |
A |
G |
9: 119,997,072 (GRCm39) |
T68A |
probably benign |
Het |
Myh11 |
T |
C |
16: 14,035,910 (GRCm39) |
E1006G |
probably damaging |
Het |
Ncstn |
A |
G |
1: 171,910,166 (GRCm39) |
|
probably null |
Het |
Or1j12 |
A |
G |
2: 36,342,609 (GRCm39) |
D4G |
probably benign |
Het |
Or8k39 |
A |
T |
2: 86,563,929 (GRCm39) |
V9E |
probably damaging |
Het |
Phip |
A |
T |
9: 82,772,507 (GRCm39) |
V1075D |
possibly damaging |
Het |
Sanbr |
A |
T |
11: 23,565,222 (GRCm39) |
M255K |
probably damaging |
Het |
Serpinb1a |
C |
T |
13: 33,034,376 (GRCm39) |
S5N |
probably damaging |
Het |
Slc15a3 |
A |
G |
19: 10,830,534 (GRCm39) |
N295S |
probably benign |
Het |
Trp63 |
A |
C |
16: 25,639,134 (GRCm39) |
|
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably 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 |
|
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 |
R3124:Trmt13
|
UTSW |
3 |
116,383,893 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
Posted On |
2015-04-16 |