Incidental Mutation 'R2380:Trmt5'
| ID |
248438 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt5
|
| Ensembl Gene |
ENSMUSG00000034442 |
| Gene Name |
TRM5 tRNA methyltransferase 5 |
| Synonyms |
2610027O18Rik |
| MMRRC Submission |
040356-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R2380 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
73326785-73333484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73331888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 4
(I4T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058139]
[ENSMUST00000101313]
[ENSMUST00000116420]
[ENSMUST00000122920]
[ENSMUST00000126488]
[ENSMUST00000140523]
[ENSMUST00000153941]
[ENSMUST00000221189]
[ENSMUST00000220701]
|
| AlphaFold |
Q9D0C4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058139
|
| SMART Domains |
Protein: ENSMUSP00000057153
Gene: ENSMUSG00000044712
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
44 |
122 |
9.5e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101313
|
| SMART Domains |
Protein: ENSMUSP00000098871
Gene: ENSMUSG00000044712
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
1 |
69 |
4.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116420
AA Change: I56T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112121
Gene: ENSMUSG00000034442
AA Change: I56T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Met_10
|
191 |
412 |
4.5e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122920
|
| SMART Domains |
Protein: ENSMUSP00000124386
Gene: ENSMUSG00000044712
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
44 |
113 |
3.5e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126488
|
| SMART Domains |
Protein: ENSMUSP00000118374
Gene: ENSMUSG00000044712
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
44 |
122 |
9.5e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140523
|
| SMART Domains |
Protein: ENSMUSP00000120810
Gene: ENSMUSG00000044712
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
44 |
452 |
2.5e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153941
|
| SMART Domains |
Protein: ENSMUSP00000114870
Gene: ENSMUSG00000044712
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
44 |
124 |
1.6e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221189
AA Change: I4T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220701
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
C |
15: 81,949,036 (GRCm39) |
S978P |
possibly damaging |
Het |
| Ago3 |
G |
A |
4: 126,262,315 (GRCm39) |
R412C |
probably damaging |
Het |
| Ampd3 |
C |
T |
7: 110,399,917 (GRCm39) |
T344M |
probably damaging |
Het |
| Arl10 |
G |
T |
13: 54,722,962 (GRCm39) |
V19L |
probably benign |
Het |
| Aspm |
C |
T |
1: 139,407,086 (GRCm39) |
A1991V |
probably damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,193,221 (GRCm39) |
D655E |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,196,878 (GRCm39) |
H1169R |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,023,586 (GRCm39) |
F942L |
probably damaging |
Het |
| Camk2g |
A |
G |
14: 20,789,455 (GRCm39) |
I205T |
probably damaging |
Het |
| Cdh5 |
C |
A |
8: 104,852,304 (GRCm39) |
H140N |
possibly damaging |
Het |
| Cog8 |
C |
A |
8: 107,782,993 (GRCm39) |
G99W |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,240,101 (GRCm39) |
C1104R |
probably damaging |
Het |
| Dhrs7c |
G |
A |
11: 67,706,690 (GRCm39) |
V283M |
probably benign |
Het |
| Emilin2 |
T |
A |
17: 71,617,219 (GRCm39) |
Q64L |
probably benign |
Het |
| Enpp3 |
T |
C |
10: 24,652,770 (GRCm39) |
E729G |
probably benign |
Het |
| Fam169a |
T |
A |
13: 97,255,043 (GRCm39) |
|
probably benign |
Het |
| Gvin-ps3 |
T |
C |
7: 105,681,374 (GRCm39) |
E627G |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,441,135 (GRCm39) |
M5374L |
probably benign |
Het |
| Hsd17b1 |
A |
T |
11: 100,969,289 (GRCm39) |
I8F |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,036,395 (GRCm39) |
E1111G |
probably benign |
Het |
| Kcmf1 |
A |
G |
6: 72,835,755 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
T |
A |
13: 47,227,231 (GRCm39) |
F574L |
probably damaging |
Het |
| Lgr4 |
T |
C |
2: 109,842,738 (GRCm39) |
Y908H |
probably damaging |
Het |
| Lig1 |
T |
C |
7: 13,037,722 (GRCm39) |
|
probably benign |
Het |
| Ltbp3 |
C |
A |
19: 5,801,551 (GRCm39) |
C698* |
probably null |
Het |
| Ncor2 |
A |
G |
5: 125,113,144 (GRCm39) |
V1216A |
possibly damaging |
Het |
| Or52e3 |
A |
T |
7: 102,869,815 (GRCm39) |
T297S |
possibly damaging |
Het |
| Or5b109 |
T |
C |
19: 13,212,085 (GRCm39) |
V157A |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,779,741 (GRCm39) |
T279A |
probably damaging |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Ppp5c |
A |
G |
7: 16,740,040 (GRCm39) |
Y434H |
probably damaging |
Het |
| Pwwp2b |
A |
G |
7: 138,835,366 (GRCm39) |
E269G |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,544,124 (GRCm39) |
T299S |
probably benign |
Het |
| Skint5 |
G |
A |
4: 113,403,733 (GRCm39) |
T1163I |
unknown |
Het |
| Slc35f4 |
A |
G |
14: 49,543,660 (GRCm39) |
|
probably null |
Het |
| Smr2l |
T |
G |
5: 88,430,413 (GRCm39) |
M103R |
probably benign |
Het |
| Ttc7b |
A |
G |
12: 100,321,260 (GRCm39) |
|
probably null |
Het |
| Utp6 |
A |
G |
11: 79,826,831 (GRCm39) |
S582P |
possibly damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,351,552 (GRCm39) |
S222P |
probably damaging |
Het |
| Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
Het |
|
| Other mutations in Trmt5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Trmt5
|
APN |
12 |
73,331,693 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01468:Trmt5
|
APN |
12 |
73,327,878 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01681:Trmt5
|
APN |
12 |
73,329,377 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02502:Trmt5
|
APN |
12 |
73,328,001 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02627:Trmt5
|
APN |
12 |
73,328,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02688:Trmt5
|
APN |
12 |
73,328,232 (GRCm39) |
nonsense |
probably null |
|
|
IGL03390:Trmt5
|
APN |
12 |
73,329,501 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03391:Trmt5
|
APN |
12 |
73,328,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2068:Trmt5
|
UTSW |
12 |
73,331,444 (GRCm39) |
splice site |
probably null |
|
|
R2239:Trmt5
|
UTSW |
12 |
73,331,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5169:Trmt5
|
UTSW |
12 |
73,329,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5578:Trmt5
|
UTSW |
12 |
73,331,837 (GRCm39) |
splice site |
probably null |
|
|
R5579:Trmt5
|
UTSW |
12 |
73,328,426 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7390:Trmt5
|
UTSW |
12 |
73,328,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7991:Trmt5
|
UTSW |
12 |
73,329,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9001:Trmt5
|
UTSW |
12 |
73,331,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9065:Trmt5
|
UTSW |
12 |
73,328,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9237:Trmt5
|
UTSW |
12 |
73,331,568 (GRCm39) |
missense |
probably benign |
|
|
R9277:Trmt5
|
UTSW |
12 |
73,329,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACATGATCAGCCTACTGTCTTC -3'
(R):5'- TCCCCAGAATCGTATGGAAGC -3'
Sequencing Primer
(F):5'- GGGATCCTCAATCACTCGC -3'
(R):5'- CCCCAGAATCGTATGGAAGCTATTTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation