Incidental Mutation 'IGL02531:Trmt13'
ID |
297329 |
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 # |
IGL02531
|
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 G
at 116385840 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]
[ENSMUST00000197335]
[ENSMUST00000198386]
[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 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 |
noncoding transcript
Transcript: ENSMUST00000126546
|
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: 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 |
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
C |
A |
6: 86,933,429 (GRCm39) |
H467N |
unknown |
Het |
Alb |
A |
G |
5: 90,615,307 (GRCm39) |
D273G |
probably damaging |
Het |
Arap3 |
A |
G |
18: 38,122,804 (GRCm39) |
S531P |
probably damaging |
Het |
Bmpr2 |
T |
A |
1: 59,884,873 (GRCm39) |
|
probably null |
Het |
Cfhr4 |
T |
C |
1: 139,702,307 (GRCm39) |
K59R |
probably benign |
Het |
Chd7 |
G |
A |
4: 8,854,134 (GRCm39) |
R1902H |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyp2b13 |
A |
T |
7: 25,761,030 (GRCm39) |
H29L |
possibly damaging |
Het |
Enpp5 |
G |
T |
17: 44,391,843 (GRCm39) |
V91F |
probably damaging |
Het |
Fam210b |
T |
C |
2: 172,194,675 (GRCm39) |
Y176H |
probably damaging |
Het |
Fam83b |
T |
C |
9: 76,399,282 (GRCm39) |
E607G |
possibly damaging |
Het |
Hhla1 |
C |
T |
15: 65,839,256 (GRCm39) |
|
probably benign |
Het |
Kdm3b |
A |
G |
18: 34,928,782 (GRCm39) |
T178A |
probably benign |
Het |
Klf1 |
T |
A |
8: 85,631,437 (GRCm39) |
F334I |
probably damaging |
Het |
Klra8 |
A |
G |
6: 130,095,933 (GRCm39) |
S220P |
possibly damaging |
Het |
Medag |
A |
G |
5: 149,345,616 (GRCm39) |
N99S |
probably benign |
Het |
Muc6 |
T |
C |
7: 141,216,853 (GRCm39) |
T2607A |
possibly damaging |
Het |
Mug2 |
T |
G |
6: 122,049,730 (GRCm39) |
L921R |
probably damaging |
Het |
Nacad |
T |
C |
11: 6,548,580 (GRCm39) |
N1385D |
possibly damaging |
Het |
Nin |
A |
G |
12: 70,067,706 (GRCm39) |
F1983L |
probably benign |
Het |
Nipal4 |
T |
C |
11: 46,042,152 (GRCm39) |
I176M |
probably damaging |
Het |
Orc6 |
T |
C |
8: 86,029,998 (GRCm39) |
S47P |
probably damaging |
Het |
Ovch2 |
C |
T |
7: 107,389,405 (GRCm39) |
C341Y |
probably damaging |
Het |
Polq |
T |
A |
16: 36,882,736 (GRCm39) |
H1633Q |
possibly damaging |
Het |
Rab23 |
T |
C |
1: 33,777,361 (GRCm39) |
|
probably benign |
Het |
Rai14 |
A |
G |
15: 10,574,868 (GRCm39) |
S697P |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,327,628 (GRCm39) |
F1872L |
probably benign |
Het |
Sdhc |
T |
C |
1: 170,963,587 (GRCm39) |
H127R |
probably damaging |
Het |
Snx9 |
T |
C |
17: 5,942,095 (GRCm39) |
V74A |
probably benign |
Het |
Spata31d1d |
A |
G |
13: 59,875,748 (GRCm39) |
S596P |
possibly damaging |
Het |
Syt14 |
T |
C |
1: 192,584,242 (GRCm39) |
*78W |
probably null |
Het |
Thoc1 |
A |
G |
18: 9,970,258 (GRCm39) |
T203A |
probably benign |
Het |
Ttc28 |
A |
G |
5: 111,373,716 (GRCm39) |
I1020V |
probably damaging |
Het |
Vmn2r16 |
A |
G |
5: 109,488,134 (GRCm39) |
T336A |
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 |
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 |