Incidental Mutation 'IGL03375:Trmu'
| ID |
420446 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trmu
|
| Ensembl Gene |
ENSMUSG00000022386 |
| Gene Name |
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase |
| Synonyms |
1600025P05Rik, Mtu1, 1110005N20Rik, Trmt1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
IGL03375
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
85763513-85781595 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85779138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 262
(Y262N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023019
(fasta)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000023019
AA Change: Y262N
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000023019
Gene: ENSMUSG00000022386
AA Change: Y262N
| 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226840
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
A |
G |
16: 38,423,190 (GRCm39) |
S959P |
probably damaging |
Het |
| Arrb2 |
G |
A |
11: 70,327,005 (GRCm39) |
G24D |
probably damaging |
Het |
| Catsper4 |
A |
G |
4: 133,945,519 (GRCm39) |
I180T |
probably damaging |
Het |
| Chst15 |
G |
A |
7: 131,872,186 (GRCm39) |
Q32* |
probably null |
Het |
| Cntnap5c |
A |
T |
17: 58,469,200 (GRCm39) |
Y594F |
possibly damaging |
Het |
| Cse1l |
T |
A |
2: 166,784,977 (GRCm39) |
|
probably benign |
Het |
| Dab1 |
A |
T |
4: 104,538,798 (GRCm39) |
I201F |
possibly damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,252,799 (GRCm39) |
V457A |
probably benign |
Het |
| Fkbp1b |
T |
C |
12: 4,888,220 (GRCm39) |
|
probably benign |
Het |
| Fryl |
C |
A |
5: 73,245,792 (GRCm39) |
V1122F |
possibly damaging |
Het |
| Gas2l2 |
A |
G |
11: 83,317,036 (GRCm39) |
|
probably benign |
Het |
| Gstt2 |
A |
T |
10: 75,668,655 (GRCm39) |
|
probably null |
Het |
| H4c14 |
T |
C |
3: 96,170,458 (GRCm39) |
T55A |
possibly damaging |
Het |
| Hcst |
T |
G |
7: 30,118,036 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,466,445 (GRCm39) |
E2420G |
possibly damaging |
Het |
| Ifi206 |
A |
T |
1: 173,308,344 (GRCm39) |
S551T |
probably benign |
Het |
| Itgb3bp |
A |
G |
4: 99,657,724 (GRCm39) |
|
probably benign |
Het |
| Krtap6-2 |
A |
G |
16: 89,216,644 (GRCm39) |
Y108H |
unknown |
Het |
| Krtap6-5 |
T |
G |
16: 88,844,740 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,415,699 (GRCm39) |
T2882A |
possibly damaging |
Het |
| Nup214 |
C |
T |
2: 31,900,233 (GRCm39) |
T854M |
probably damaging |
Het |
| Olfml2b |
A |
G |
1: 170,477,401 (GRCm39) |
K179E |
probably benign |
Het |
| Or10d1b |
A |
G |
9: 39,613,871 (GRCm39) |
S65P |
probably damaging |
Het |
| Or4k37 |
A |
T |
2: 111,159,229 (GRCm39) |
H155L |
probably damaging |
Het |
| Per2 |
A |
T |
1: 91,351,950 (GRCm39) |
I852K |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,187,247 (GRCm39) |
I3687N |
probably damaging |
Het |
| Slc7a2 |
A |
T |
8: 41,369,410 (GRCm39) |
S622C |
probably damaging |
Het |
| Smarcc2 |
G |
A |
10: 128,318,781 (GRCm39) |
V719I |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,972,209 (GRCm39) |
I1033T |
possibly damaging |
Het |
| Tmod1 |
T |
C |
4: 46,096,999 (GRCm39) |
I264T |
probably damaging |
Het |
| Tmtc3 |
G |
A |
10: 100,283,581 (GRCm39) |
A658V |
possibly damaging |
Het |
| Top6bl |
T |
C |
19: 4,748,206 (GRCm39) |
E164G |
probably benign |
Het |
| Tpm3 |
A |
G |
3: 89,981,079 (GRCm39) |
E56G |
possibly damaging |
Het |
| Tra2b |
T |
C |
16: 22,065,993 (GRCm39) |
|
probably benign |
Het |
| Uox |
C |
T |
3: 146,331,590 (GRCm39) |
T213I |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,818,517 (GRCm39) |
W2R |
probably damaging |
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 |
|
|
R0592:Trmu
|
UTSW |
15 |
85,781,027 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation