Incidental Mutation 'R7079:Trmt13'
ID |
549407 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trmt13
|
Ensembl Gene |
ENSMUSG00000033439 |
Gene Name |
tRNA methyltransferase 13 |
Synonyms |
A930028L21Rik, Ccdc76, 4631408H19Rik |
MMRRC Submission |
045173-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.151)
|
Stock # |
R7079 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
116374742-116408236 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116376480 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 304
(T304A)
|
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 benign
Transcript: ENSMUST00000041524
AA Change: T304A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000047320 Gene: ENSMUSG00000033439 AA Change: T304A
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: 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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,402,323 (GRCm39) |
L405S |
possibly damaging |
Het |
2310009B15Rik |
T |
A |
1: 138,779,865 (GRCm39) |
Q129L |
possibly damaging |
Het |
4921509C19Rik |
T |
G |
2: 151,315,198 (GRCm39) |
D160A |
probably damaging |
Het |
Aspn |
A |
G |
13: 49,720,031 (GRCm39) |
Y349C |
probably damaging |
Het |
Atp2b1 |
A |
G |
10: 98,854,595 (GRCm39) |
T1063A |
probably benign |
Het |
BC035947 |
T |
C |
1: 78,474,552 (GRCm39) |
E660G |
probably damaging |
Het |
Cadps2 |
A |
G |
6: 23,323,408 (GRCm39) |
L970P |
probably damaging |
Het |
Caskin1 |
T |
C |
17: 24,717,858 (GRCm39) |
I215T |
probably benign |
Het |
Cort |
C |
G |
4: 149,211,848 (GRCm39) |
G85R |
probably benign |
Het |
Cyp1a2 |
T |
C |
9: 57,589,161 (GRCm39) |
I218V |
probably benign |
Het |
Egfem1 |
T |
A |
3: 29,207,731 (GRCm39) |
H140Q |
probably benign |
Het |
Elapor2 |
A |
G |
5: 9,449,253 (GRCm39) |
Y127C |
probably damaging |
Het |
Fbln5 |
G |
A |
12: 101,723,667 (GRCm39) |
P345S |
probably damaging |
Het |
Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
Gfpt2 |
G |
A |
11: 49,728,578 (GRCm39) |
V679I |
possibly damaging |
Het |
Gm10837 |
C |
G |
14: 122,728,142 (GRCm39) |
A6G |
unknown |
Het |
Grm1 |
T |
C |
10: 10,955,702 (GRCm39) |
D194G |
probably damaging |
Het |
Hectd1 |
G |
A |
12: 51,834,638 (GRCm39) |
T875M |
possibly damaging |
Het |
Hey2 |
T |
A |
10: 30,710,382 (GRCm39) |
I124F |
probably benign |
Het |
Hhat |
T |
C |
1: 192,235,354 (GRCm39) |
H434R |
possibly damaging |
Het |
Itpripl2 |
A |
G |
7: 118,090,092 (GRCm39) |
F156L |
possibly damaging |
Het |
Kctd11 |
A |
G |
11: 69,770,847 (GRCm39) |
Y64H |
probably damaging |
Het |
Lmln |
T |
C |
16: 32,887,661 (GRCm39) |
L97P |
probably benign |
Het |
Lrrc30 |
T |
C |
17: 67,939,016 (GRCm39) |
D188G |
possibly damaging |
Het |
Mmd |
T |
A |
11: 90,158,325 (GRCm39) |
|
probably null |
Het |
Nav3 |
G |
A |
10: 109,603,153 (GRCm39) |
S1132L |
probably benign |
Het |
Or1l4 |
C |
A |
2: 37,092,185 (GRCm39) |
H311N |
probably benign |
Het |
Or4c101 |
C |
A |
2: 88,389,853 (GRCm39) |
N2K |
probably damaging |
Het |
Or52ab7 |
C |
T |
7: 102,978,391 (GRCm39) |
R233C |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,152,957 (GRCm39) |
T421A |
probably benign |
Het |
Pfkm |
G |
A |
15: 97,992,963 (GRCm39) |
R7H |
probably benign |
Het |
Psme2b |
A |
G |
11: 48,836,443 (GRCm39) |
F168S |
probably damaging |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Ptpn13 |
T |
C |
5: 103,649,752 (GRCm39) |
V385A |
probably benign |
Het |
Reep5 |
G |
A |
18: 34,480,176 (GRCm39) |
T189I |
probably damaging |
Het |
Sacm1l |
T |
A |
9: 123,399,062 (GRCm39) |
Y272N |
probably damaging |
Het |
Slc26a6 |
T |
A |
9: 108,735,147 (GRCm39) |
H348Q |
probably damaging |
Het |
Son |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
16: 91,453,729 (GRCm39) |
|
probably benign |
Het |
Spata31f1a |
T |
C |
4: 42,851,718 (GRCm39) |
E146G |
probably benign |
Het |
Stkld1 |
A |
G |
2: 26,839,359 (GRCm39) |
I342V |
probably benign |
Het |
Trim23 |
A |
T |
13: 104,323,801 (GRCm39) |
|
probably null |
Het |
Tyw3 |
G |
C |
3: 154,299,426 (GRCm39) |
S94R |
probably benign |
Het |
Ubqln3 |
A |
T |
7: 103,790,578 (GRCm39) |
I504K |
probably benign |
Het |
Uhrf2 |
T |
G |
19: 30,060,190 (GRCm39) |
N519K |
probably null |
Het |
Wdr93 |
T |
C |
7: 79,399,040 (GRCm39) |
M58T |
probably damaging |
Het |
Wwc2 |
G |
A |
8: 48,300,580 (GRCm39) |
T961M |
unknown |
Het |
Zfp35 |
C |
T |
18: 24,136,357 (GRCm39) |
H234Y |
possibly damaging |
Het |
Zscan21 |
C |
T |
5: 138,124,728 (GRCm39) |
P215S |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCTTCCAACGATGTCCTC -3'
(R):5'- GTTTTGCACTAGCCATACTGC -3'
Sequencing Primer
(F):5'- CCCAACTACTCATTCTCTGGAAATAG -3'
(R):5'- GCACTAGCCATACTGCTTACTG -3'
|
Posted On |
2019-05-15 |