Incidental Mutation 'IGL01732:Trmt13'
ID |
105540 |
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 # |
IGL01732
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
116374742-116408236 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116375113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 465
(L465S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047320
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029573]
[ENSMUST00000041524]
[ENSMUST00000183638]
[ENSMUST00000184963]
[ENSMUST00000197190]
|
AlphaFold |
Q8BYH3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029573
|
SMART Domains |
Protein: ENSMUSP00000029573 Gene: ENSMUSG00000027961
Domain | Start | End | E-Value | Type |
LRR
|
105 |
127 |
1.15e1 |
SMART |
LRR_TYP
|
128 |
151 |
7.26e-3 |
SMART |
LRR
|
175 |
197 |
6.58e0 |
SMART |
LRR
|
198 |
220 |
1e1 |
SMART |
LRR
|
221 |
243 |
7.16e0 |
SMART |
LRR
|
244 |
267 |
6.58e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041524
AA Change: L465S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047320 Gene: ENSMUSG00000033439 AA Change: L465S
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: 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 benign
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: ENSMUST00000199439
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh4a1 |
G |
T |
4: 139,369,471 (GRCm39) |
E341* |
probably null |
Het |
Alpk3 |
A |
G |
7: 80,707,390 (GRCm39) |
R5G |
unknown |
Het |
Arhgef10l |
C |
T |
4: 140,307,726 (GRCm39) |
V113M |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,465,852 (GRCm39) |
I1872K |
probably benign |
Het |
Cdk17 |
C |
A |
10: 93,053,907 (GRCm39) |
P134T |
probably benign |
Het |
Cerk |
A |
G |
15: 86,030,517 (GRCm39) |
S35P |
possibly damaging |
Het |
Cfap126 |
T |
C |
1: 170,954,305 (GRCm39) |
V174A |
possibly damaging |
Het |
Cfhr1 |
T |
C |
1: 139,478,606 (GRCm39) |
T255A |
probably benign |
Het |
Clcn1 |
A |
G |
6: 42,287,606 (GRCm39) |
|
probably benign |
Het |
Copz1 |
A |
G |
15: 103,206,318 (GRCm39) |
E151G |
probably benign |
Het |
Cubn |
G |
A |
2: 13,494,747 (GRCm39) |
Q101* |
probably null |
Het |
Eri1 |
T |
C |
8: 35,958,397 (GRCm39) |
E12G |
possibly damaging |
Het |
Fut9 |
A |
G |
4: 25,619,867 (GRCm39) |
F316L |
possibly damaging |
Het |
Garin1a |
A |
T |
6: 29,285,979 (GRCm39) |
H146L |
probably damaging |
Het |
Gm973 |
A |
G |
1: 59,669,396 (GRCm39) |
I816V |
probably benign |
Het |
Itln1 |
A |
G |
1: 171,362,348 (GRCm39) |
M11T |
probably benign |
Het |
Klc2 |
C |
T |
19: 5,159,825 (GRCm39) |
R458Q |
probably damaging |
Het |
Lrrc8b |
A |
T |
5: 105,633,826 (GRCm39) |
E766V |
probably damaging |
Het |
Mmadhc |
A |
T |
2: 50,171,197 (GRCm39) |
I205N |
probably damaging |
Het |
Myo10 |
A |
G |
15: 25,732,149 (GRCm39) |
I342V |
probably benign |
Het |
Ncapg |
T |
A |
5: 45,851,195 (GRCm39) |
V796D |
probably damaging |
Het |
Olfm3 |
A |
C |
3: 114,890,649 (GRCm39) |
D134A |
possibly damaging |
Het |
Or3a1c |
T |
C |
11: 74,046,279 (GRCm39) |
C100R |
probably damaging |
Het |
Or51t4 |
T |
A |
7: 102,598,446 (GRCm39) |
I248N |
probably damaging |
Het |
Or56b2 |
T |
C |
7: 104,337,543 (GRCm39) |
M107T |
possibly damaging |
Het |
Phldb3 |
A |
G |
7: 24,326,751 (GRCm39) |
E593G |
probably damaging |
Het |
Plcg1 |
T |
A |
2: 160,589,699 (GRCm39) |
D74E |
probably damaging |
Het |
Plekhm3 |
T |
C |
1: 64,961,407 (GRCm39) |
D283G |
probably benign |
Het |
Pnpla6 |
C |
A |
8: 3,572,616 (GRCm39) |
T279N |
probably damaging |
Het |
Prkcq |
G |
A |
2: 11,265,644 (GRCm39) |
|
probably benign |
Het |
Rbm11 |
G |
A |
16: 75,397,510 (GRCm39) |
A147T |
probably benign |
Het |
Rnf103 |
A |
G |
6: 71,487,366 (GRCm39) |
K666E |
probably damaging |
Het |
Selenos |
A |
G |
7: 65,730,137 (GRCm39) |
Y45C |
probably damaging |
Het |
Septin11 |
A |
G |
5: 93,309,085 (GRCm39) |
Y255C |
probably damaging |
Het |
Serpinb3c |
T |
C |
1: 107,199,702 (GRCm39) |
H273R |
probably benign |
Het |
Slc35f2 |
A |
G |
9: 53,713,909 (GRCm39) |
D141G |
probably damaging |
Het |
Sntg2 |
A |
T |
12: 30,362,648 (GRCm39) |
Y33N |
probably damaging |
Het |
Snx19 |
C |
A |
9: 30,373,649 (GRCm39) |
T904K |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,544,716 (GRCm39) |
Y2244C |
probably damaging |
Het |
Tescl |
A |
G |
7: 24,032,872 (GRCm39) |
V151A |
probably damaging |
Het |
Tnrc18 |
C |
T |
5: 142,757,816 (GRCm39) |
V902M |
unknown |
Het |
Ube2j2 |
T |
G |
4: 156,041,788 (GRCm39) |
V249G |
probably damaging |
Het |
Zan |
T |
C |
5: 137,391,273 (GRCm39) |
K4737R |
unknown |
Het |
Zc3h6 |
T |
C |
2: 128,853,795 (GRCm39) |
I430T |
probably damaging |
Het |
Zfp750 |
G |
A |
11: 121,403,819 (GRCm39) |
S352L |
probably benign |
Het |
Zfp819 |
A |
G |
7: 43,265,846 (GRCm39) |
K34E |
probably benign |
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 |
|
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 |
2014-01-21 |