Incidental Mutation 'R0592:Trmu'
| ID |
56036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmu
|
| Ensembl Gene |
ENSMUSG00000022386 |
| Gene Name |
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase |
| Synonyms |
1600025P05Rik, Mtu1, 1110005N20Rik, Trmt1 |
| MMRRC Submission |
038782-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R0592 (G1)
|
| Quality Score |
142 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
85763513-85781595 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 85781027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016172]
[ENSMUST00000023019]
[ENSMUST00000162491]
|
| AlphaFold |
Q9DAT5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016172
|
| SMART Domains |
Protein: ENSMUSP00000016172
Gene: ENSMUSG00000016028
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
257 |
N/A |
INTRINSIC |
|
CA
|
282 |
366 |
9.51e-26 |
SMART |
|
CA
|
390 |
472 |
1.59e-27 |
SMART |
|
CA
|
496 |
578 |
3.8e-25 |
SMART |
|
CA
|
602 |
700 |
2.25e-27 |
SMART |
|
CA
|
724 |
802 |
3.14e-17 |
SMART |
|
CA
|
826 |
905 |
2.67e-29 |
SMART |
|
CA
|
929 |
1012 |
3.23e-28 |
SMART |
|
CA
|
1036 |
1114 |
4.17e-22 |
SMART |
|
CA
|
1142 |
1218 |
6.89e-1 |
SMART |
|
EGF
|
1321 |
1376 |
3.38e-3 |
SMART |
|
EGF
|
1381 |
1414 |
5.49e-3 |
SMART |
|
EGF
|
1421 |
1456 |
9.7e-4 |
SMART |
|
LamG
|
1477 |
1644 |
2.53e-33 |
SMART |
|
EGF
|
1667 |
1700 |
6.4e-4 |
SMART |
|
LamG
|
1726 |
1864 |
1.13e-21 |
SMART |
|
EGF
|
1890 |
1923 |
1.84e-4 |
SMART |
|
EGF
|
1925 |
1961 |
5.49e-3 |
SMART |
|
EGF_Lam
|
2018 |
2063 |
7.12e-11 |
SMART |
|
HormR
|
2066 |
2128 |
2.55e-20 |
SMART |
|
Pfam:GAIN
|
2140 |
2396 |
1.1e-64 |
PFAM |
|
GPS
|
2422 |
2475 |
5.03e-22 |
SMART |
|
Pfam:7tm_2
|
2480 |
2712 |
2.6e-60 |
PFAM |
|
low complexity region
|
2738 |
2753 |
N/A |
INTRINSIC |
|
low complexity region
|
2819 |
2852 |
N/A |
INTRINSIC |
|
low complexity region
|
2976 |
2988 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023019
|
| SMART Domains |
Protein: ENSMUSP00000023019
Gene: ENSMUSG00000022386
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_synthase
|
1 |
133 |
7.7e-7 |
PFAM |
|
Pfam:ThiI
|
3 |
79 |
7.7e-8 |
PFAM |
|
Pfam:tRNA_Me_trans
|
5 |
383 |
3.4e-142 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162010
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162339
|
| SMART Domains |
Protein: ENSMUSP00000125266
Gene: ENSMUSG00000022386
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA_Me_trans
|
1 |
46 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162601
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226204
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226840
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162491
|
| SMART Domains |
Protein: ENSMUSP00000125704
Gene: ENSMUSG00000022386
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_synthase
|
1 |
88 |
1.1e-8 |
PFAM |
|
Pfam:Asn_synthase
|
1 |
90 |
3e-7 |
PFAM |
|
Pfam:ThiI
|
3 |
84 |
1.6e-10 |
PFAM |
|
Pfam:tRNA_Me_trans
|
5 |
88 |
2.9e-34 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Homozygous KO is embryonic lethal. Homozygous conditional KO in the liver affects mitochondrial function owing to impaired mt-tRNA modifications. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
T |
3: 36,664,446 (GRCm39) |
V53D |
probably benign |
Het |
| Bglap |
T |
A |
3: 88,290,962 (GRCm39) |
I90F |
probably benign |
Het |
| C2cd4b |
G |
A |
9: 67,667,973 (GRCm39) |
R323H |
probably damaging |
Het |
| Cdh5 |
T |
A |
8: 104,857,534 (GRCm39) |
|
probably null |
Het |
| Cdh8 |
T |
A |
8: 100,006,110 (GRCm39) |
D159V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,495,771 (GRCm39) |
Y3229H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,139,551 (GRCm39) |
E381G |
probably damaging |
Het |
| Elmod1 |
A |
G |
9: 53,833,390 (GRCm39) |
|
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,665,570 (GRCm39) |
S811P |
probably benign |
Het |
| Fhl3 |
A |
G |
4: 124,599,470 (GRCm39) |
Y15C |
probably benign |
Het |
| Gstz1 |
G |
A |
12: 87,210,495 (GRCm39) |
S126N |
probably benign |
Het |
| Hey2 |
C |
A |
10: 30,709,953 (GRCm39) |
A267S |
probably benign |
Het |
| Iqce |
A |
T |
5: 140,671,862 (GRCm39) |
|
probably null |
Het |
| Katnal2 |
A |
T |
18: 77,090,256 (GRCm39) |
|
probably null |
Het |
| Kdm2b |
G |
A |
5: 123,099,197 (GRCm39) |
|
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,882,969 (GRCm39) |
|
probably null |
Het |
| Numa1 |
A |
G |
7: 101,663,104 (GRCm39) |
T724A |
probably benign |
Het |
| Oas3 |
A |
G |
5: 120,909,214 (GRCm39) |
F244S |
probably damaging |
Het |
| Or2d2 |
G |
A |
7: 106,728,550 (GRCm39) |
L17F |
probably benign |
Het |
| Or5b117 |
T |
C |
19: 13,431,069 (GRCm39) |
I271V |
probably benign |
Het |
| Rab37 |
T |
G |
11: 115,051,349 (GRCm39) |
|
probably benign |
Het |
| Riox2 |
T |
C |
16: 59,309,942 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,508,826 (GRCm39) |
S3358P |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,605,546 (GRCm39) |
H948L |
probably benign |
Het |
| Serpinb6e |
T |
A |
13: 34,025,057 (GRCm39) |
N78I |
probably damaging |
Het |
| Slc25a47 |
G |
A |
12: 108,820,184 (GRCm39) |
V63M |
probably damaging |
Het |
| Slc9b1 |
A |
T |
3: 135,099,835 (GRCm39) |
|
probably benign |
Het |
| Strip2 |
T |
A |
6: 29,931,209 (GRCm39) |
S387T |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,573,777 (GRCm39) |
N145S |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn2r116 |
C |
T |
17: 23,605,889 (GRCm39) |
T267I |
probably damaging |
Het |
| Whrn |
C |
A |
4: 63,333,804 (GRCm39) |
A450S |
probably damaging |
Het |
| Ypel1 |
A |
G |
16: 16,925,083 (GRCm39) |
S30P |
probably benign |
Het |
|
| Other mutations in Trmu |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00785:Trmu
|
APN |
15 |
85,767,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02873:Trmu
|
APN |
15 |
85,781,033 (GRCm39) |
splice site |
probably null |
|
|
IGL03375:Trmu
|
APN |
15 |
85,779,138 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0781:Trmu
|
UTSW |
15 |
85,763,604 (GRCm39) |
nonsense |
probably null |
|
|
R1120:Trmu
|
UTSW |
15 |
85,774,486 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1165:Trmu
|
UTSW |
15 |
85,776,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1443:Trmu
|
UTSW |
15 |
85,781,302 (GRCm39) |
splice site |
probably null |
|
|
R1503:Trmu
|
UTSW |
15 |
85,779,220 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4626:Trmu
|
UTSW |
15 |
85,779,186 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4790:Trmu
|
UTSW |
15 |
85,767,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:Trmu
|
UTSW |
15 |
85,780,556 (GRCm39) |
splice site |
probably null |
|
|
R5399:Trmu
|
UTSW |
15 |
85,780,609 (GRCm39) |
splice site |
probably null |
|
|
R5639:Trmu
|
UTSW |
15 |
85,766,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6831:Trmu
|
UTSW |
15 |
85,779,207 (GRCm39) |
missense |
probably benign |
|
|
R8093:Trmu
|
UTSW |
15 |
85,766,921 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8276:Trmu
|
UTSW |
15 |
85,766,932 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9163:Trmu
|
UTSW |
15 |
85,781,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF007:Trmu
|
UTSW |
15 |
85,776,770 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACATTGGAAAGTCCCCGTCATC -3'
(R):5'- AGGCACTCCTCACCCTTGTAGAAC -3'
Sequencing Primer
(F):5'- ACTTCAGAATTGCTGGGAAATTGG -3'
(R):5'- AGACTCACTGATGTGTCTGAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation