Incidental Mutation 'R5578:Trmt5'
| ID |
437313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt5
|
| Ensembl Gene |
ENSMUSG00000034442 |
| Gene Name |
TRM5 tRNA methyltransferase 5 |
| Synonyms |
2610027O18Rik |
| MMRRC Submission |
043133-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R5578 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
73326785-73333484 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 73331837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152289
(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 damaging
Transcript: ENSMUST00000116420
AA Change: R73Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112121
Gene: ENSMUSG00000034442
AA Change: R73Q
| 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 |
possibly damaging
Transcript: ENSMUST00000221189
AA Change: R21Q
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000220701
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,926,932 (GRCm39) |
S521P |
probably benign |
Het |
| Aqp11 |
A |
G |
7: 97,386,665 (GRCm39) |
F177S |
probably damaging |
Het |
| Arhgap40 |
G |
T |
2: 158,373,126 (GRCm39) |
G128V |
probably damaging |
Het |
| Aspm |
A |
T |
1: 139,398,455 (GRCm39) |
K1011I |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,722,203 (GRCm39) |
T89A |
probably benign |
Het |
| Cep89 |
ACTCCTCCTCCTCCTCCTCCTCCTC |
ACTCCTCCTCCTCCTCCTCCTC |
7: 35,109,067 (GRCm39) |
|
probably benign |
Het |
| Cfhr2 |
A |
T |
1: 139,758,806 (GRCm39) |
C81* |
probably null |
Het |
| Chd7 |
A |
G |
4: 8,847,149 (GRCm39) |
T1631A |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,638,196 (GRCm39) |
D22V |
probably benign |
Het |
| Csnk2a1-ps3 |
A |
G |
1: 156,352,800 (GRCm39) |
M334V |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp39a1 |
T |
A |
17: 43,991,031 (GRCm39) |
N113K |
possibly damaging |
Het |
| Dnah11 |
A |
T |
12: 117,982,537 (GRCm39) |
V2544D |
probably damaging |
Het |
| Dnai3 |
A |
T |
3: 145,802,983 (GRCm39) |
Y69* |
probably null |
Het |
| Esr1 |
A |
C |
10: 4,919,164 (GRCm39) |
Q418P |
probably damaging |
Het |
| Fam89a |
T |
A |
8: 125,467,968 (GRCm39) |
K115* |
probably null |
Het |
| Fstl4 |
T |
A |
11: 53,056,608 (GRCm39) |
V455D |
probably damaging |
Het |
| Gm20730 |
T |
A |
6: 43,058,474 (GRCm39) |
M113L |
probably benign |
Het |
| H2ac21 |
T |
C |
3: 96,127,554 (GRCm39) |
V108A |
probably damaging |
Het |
| Hk3 |
C |
T |
13: 55,159,994 (GRCm39) |
V327M |
probably damaging |
Het |
| Itm2c |
T |
A |
1: 85,830,774 (GRCm39) |
V57E |
possibly damaging |
Het |
| Lrba |
T |
C |
3: 86,664,814 (GRCm39) |
Y565H |
probably benign |
Het |
| Mab21l1 |
C |
T |
3: 55,691,435 (GRCm39) |
Q341* |
probably null |
Het |
| Mdm2 |
C |
T |
10: 117,538,192 (GRCm39) |
E69K |
possibly damaging |
Het |
| Mdn1 |
A |
T |
4: 32,728,167 (GRCm39) |
I2709F |
probably benign |
Het |
| Mpp7 |
T |
C |
18: 7,355,101 (GRCm39) |
N442D |
probably benign |
Het |
| Ncoa3 |
A |
G |
2: 165,896,248 (GRCm39) |
I384V |
probably benign |
Het |
| Pm20d1 |
A |
G |
1: 131,743,760 (GRCm39) |
N475S |
probably benign |
Het |
| Rhpn2 |
A |
G |
7: 35,070,135 (GRCm39) |
D131G |
probably damaging |
Het |
| S1pr5 |
T |
A |
9: 21,155,847 (GRCm39) |
Y193F |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 141,598,880 (GRCm39) |
K182* |
probably null |
Het |
| Slx4 |
T |
A |
16: 3,804,726 (GRCm39) |
E696V |
probably damaging |
Het |
| Smyd4 |
C |
T |
11: 75,295,602 (GRCm39) |
P753S |
probably benign |
Het |
| Stambp |
T |
G |
6: 83,538,782 (GRCm39) |
D206A |
probably benign |
Het |
| Sult5a1 |
G |
T |
8: 123,869,860 (GRCm39) |
Y262* |
probably null |
Het |
| Taar1 |
A |
T |
10: 23,796,718 (GRCm39) |
I139F |
possibly damaging |
Het |
| Tchh |
A |
T |
3: 93,351,618 (GRCm39) |
R353* |
probably null |
Het |
| Thnsl2 |
C |
T |
6: 71,115,749 (GRCm39) |
V153I |
probably benign |
Het |
| Trpa1 |
T |
A |
1: 14,957,232 (GRCm39) |
Y728F |
probably damaging |
Het |
| Usp19 |
T |
C |
9: 108,370,639 (GRCm39) |
V126A |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,839,622 (GRCm39) |
V1974A |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,829,514 (GRCm39) |
H461L |
probably benign |
Het |
| Zfp445 |
T |
C |
9: 122,682,402 (GRCm39) |
Y513C |
probably benign |
Het |
| Zfp84 |
A |
C |
7: 29,474,856 (GRCm39) |
M43L |
possibly damaging |
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 |
|
R2380: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 |
|
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'- ACATGATCAGCCTACTGTCTTC -3'
(R):5'- TTCCCCAGAATCGTATGGAAGC -3'
Sequencing Primer
(F):5'- CATCCTTGGGATCCTCAATCAC -3'
(R):5'- CCCCAGAATCGTATGGAAGCTATTTG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation