Incidental Mutation 'IGL00926:Trmt13'
| ID |
27098 |
| 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 # |
IGL00926
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
116374742-116408236 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 116383884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 58
(Q58*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143637
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029571]
[ENSMUST00000041524]
[ENSMUST00000134761]
[ENSMUST00000183638]
[ENSMUST00000184963]
[ENSMUST00000197190]
[ENSMUST00000198311]
[ENSMUST00000198386]
[ENSMUST00000197335]
[ENSMUST00000198454]
|
| 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
AA Change: Q107*
|
| SMART Domains |
Protein: ENSMUSP00000047320
Gene: ENSMUSG00000033439
AA Change: Q107*
| 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 null
Transcript: ENSMUST00000183638
AA Change: Q107*
|
| SMART Domains |
Protein: ENSMUSP00000139223
Gene: ENSMUSG00000033439
AA Change: Q107*
| 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 null
Transcript: ENSMUST00000184963
AA Change: Q107*
|
| SMART Domains |
Protein: ENSMUSP00000138868
Gene: ENSMUSG00000033439
AA Change: Q107*
| 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
AA Change: Q58*
|
| SMART Domains |
Protein: ENSMUSP00000143637
Gene: ENSMUSG00000033439
AA Change: Q58*
| 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: 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: 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: ENSMUST00000198454
|
| SMART Domains |
Protein: ENSMUSP00000142410
Gene: ENSMUSG00000033439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-TRM13_CCCH
|
16 |
46 |
1.9e-14 |
PFAM |
|
| 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 |
|---|
| Agtr2 |
A |
T |
X: 21,352,524 (GRCm39) |
M53L |
probably benign |
Het |
| Apob |
T |
C |
12: 8,065,421 (GRCm39) |
V4097A |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,039,227 (GRCm39) |
K436E |
possibly damaging |
Het |
| Cadps |
C |
A |
14: 12,491,795 (GRCm38) |
R785L |
probably damaging |
Het |
| Cavin2 |
A |
G |
1: 51,340,036 (GRCm39) |
K238E |
probably damaging |
Het |
| Ccdc158 |
G |
A |
5: 92,798,626 (GRCm39) |
T358I |
probably damaging |
Het |
| Cds1 |
A |
G |
5: 101,957,767 (GRCm39) |
I246M |
probably damaging |
Het |
| Cep19 |
A |
G |
16: 31,925,898 (GRCm39) |
E102G |
probably damaging |
Het |
| Clec4a1 |
T |
A |
6: 122,899,014 (GRCm39) |
C28S |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,574,360 (GRCm39) |
Y2082F |
possibly damaging |
Het |
| Fbn1 |
T |
A |
2: 125,160,962 (GRCm39) |
T2193S |
possibly damaging |
Het |
| Gm24124 |
G |
T |
19: 13,611,421 (GRCm39) |
|
probably benign |
Het |
| Gpbp1l1 |
T |
A |
4: 116,444,710 (GRCm39) |
|
probably null |
Het |
| Helq |
T |
C |
5: 100,912,948 (GRCm39) |
|
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Itga3 |
G |
A |
11: 94,956,712 (GRCm39) |
H122Y |
probably damaging |
Het |
| Mettl18 |
T |
A |
1: 163,823,795 (GRCm39) |
S39T |
possibly damaging |
Het |
| Ndst4 |
A |
T |
3: 125,355,102 (GRCm39) |
T337S |
probably benign |
Het |
| Neb |
A |
G |
2: 52,160,329 (GRCm39) |
|
probably benign |
Het |
| Nrbp1 |
T |
C |
5: 31,401,141 (GRCm39) |
S6P |
probably benign |
Het |
| Oprk1 |
A |
G |
1: 5,669,128 (GRCm39) |
I191M |
probably damaging |
Het |
| Or2a56 |
A |
T |
6: 42,933,370 (GRCm39) |
|
probably benign |
Het |
| Or51k2 |
A |
G |
7: 103,596,204 (GRCm39) |
T144A |
probably benign |
Het |
| Or52z13 |
A |
G |
7: 103,247,369 (GRCm39) |
N282S |
possibly damaging |
Het |
| Psap |
T |
C |
10: 60,128,316 (GRCm39) |
V69A |
probably damaging |
Het |
| Scn7a |
C |
T |
2: 66,514,475 (GRCm39) |
E1100K |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,014,155 (GRCm39) |
N423S |
possibly damaging |
Het |
| Tpd52 |
A |
T |
3: 9,012,692 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,589,125 (GRCm39) |
E21346G |
probably damaging |
Het |
|
| Other mutations in Trmt13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation