Incidental Mutation 'IGL03156:Trmt13'
ID |
411262 |
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: 0.155)
|
Stock # |
IGL03156
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
116374742-116408236 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116379451 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 232
(D232G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047320
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029573]
[ENSMUST00000041524]
[ENSMUST00000134761]
[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 benign
Transcript: ENSMUST00000041524
AA Change: D232G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000047320 Gene: ENSMUSG00000033439 AA Change: D232G
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 |
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
AA Change: D232G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138868 Gene: ENSMUSG00000033439 AA Change: D232G
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
C |
7: 120,023,074 (GRCm39) |
I70T |
possibly damaging |
Het |
Acot11 |
A |
G |
4: 106,611,333 (GRCm39) |
Y365H |
probably damaging |
Het |
Bdp1 |
A |
G |
13: 100,197,544 (GRCm39) |
V947A |
probably benign |
Het |
Ccdc159 |
G |
T |
9: 21,840,771 (GRCm39) |
V113L |
probably benign |
Het |
Cep350 |
T |
C |
1: 155,733,788 (GRCm39) |
D3035G |
probably damaging |
Het |
Clca3a1 |
T |
A |
3: 144,719,672 (GRCm39) |
I433F |
probably damaging |
Het |
Cntn5 |
T |
C |
9: 9,673,882 (GRCm39) |
Y740C |
probably damaging |
Het |
Dennd5a |
C |
A |
7: 109,518,462 (GRCm39) |
|
probably benign |
Het |
Des |
G |
A |
1: 75,339,640 (GRCm39) |
E333K |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,644,983 (GRCm39) |
R1018G |
probably damaging |
Het |
Eif2b2 |
G |
T |
12: 85,266,495 (GRCm39) |
A54S |
probably damaging |
Het |
Gm7276 |
C |
T |
18: 77,273,299 (GRCm39) |
|
probably benign |
Het |
Hsbp1l1 |
A |
G |
18: 80,278,734 (GRCm39) |
|
probably benign |
Het |
Iars1 |
G |
A |
13: 49,856,655 (GRCm39) |
G303S |
possibly damaging |
Het |
Il18r1 |
A |
G |
1: 40,537,528 (GRCm39) |
E431G |
possibly damaging |
Het |
Lrrc14b |
A |
G |
13: 74,512,023 (GRCm39) |
V19A |
probably benign |
Het |
Map1lc3a |
T |
A |
2: 155,118,929 (GRCm39) |
I31N |
probably damaging |
Het |
Ms4a20 |
A |
T |
19: 11,083,114 (GRCm39) |
I102K |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,945,722 (GRCm39) |
Y4163C |
probably damaging |
Het |
Or5p6 |
T |
A |
7: 107,631,558 (GRCm39) |
|
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,280,070 (GRCm39) |
T632A |
probably benign |
Het |
Potefam1 |
T |
C |
2: 111,030,757 (GRCm39) |
D12G |
possibly damaging |
Het |
Ppp1r15a |
A |
G |
7: 45,174,595 (GRCm39) |
L71P |
possibly damaging |
Het |
Ptgs2 |
T |
G |
1: 149,981,228 (GRCm39) |
F504V |
probably damaging |
Het |
Rimbp2 |
T |
G |
5: 128,848,821 (GRCm39) |
R908S |
probably damaging |
Het |
Rnh1 |
T |
C |
7: 140,743,096 (GRCm39) |
N268S |
probably damaging |
Het |
Sap30l |
T |
C |
11: 57,696,994 (GRCm39) |
|
probably null |
Het |
Scara3 |
C |
T |
14: 66,168,603 (GRCm39) |
R338H |
probably damaging |
Het |
Serpina12 |
T |
C |
12: 104,004,158 (GRCm39) |
Y158C |
probably damaging |
Het |
Tmem237 |
A |
T |
1: 59,148,286 (GRCm39) |
D148E |
probably damaging |
Het |
Zan |
T |
A |
5: 137,462,201 (GRCm39) |
T993S |
unknown |
Het |
Zfp236 |
G |
A |
18: 82,698,827 (GRCm39) |
L85F |
probably damaging |
Het |
Zfp352 |
G |
A |
4: 90,112,324 (GRCm39) |
D155N |
possibly damaging |
Het |
Zfp867 |
T |
C |
11: 59,355,834 (GRCm39) |
|
probably benign |
Het |
Zmiz2 |
T |
C |
11: 6,349,536 (GRCm39) |
F399L |
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 |
|
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 |
|
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 |
2016-08-02 |