Incidental Mutation 'IGL02273:Trmt44'
| ID |
287249 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trmt44
|
| Ensembl Gene |
ENSMUSG00000029097 |
| Gene Name |
tRNA methyltransferase 44 |
| Synonyms |
2310079F23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
IGL02273
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
35713547-35732414 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35731457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 190
(Y190C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030980]
|
| AlphaFold |
Q9D2Q2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030980
AA Change: Y190C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030980
Gene: ENSMUSG00000029097
AA Change: Y190C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AdoMet_MTase
|
252 |
363 |
3.1e-42 |
PFAM |
|
low complexity region
|
524 |
540 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000128195
AA Change: Y66C
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145930
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
T |
C |
7: 126,429,931 (GRCm39) |
T89A |
probably benign |
Het |
| Amhr2 |
T |
C |
15: 102,360,924 (GRCm39) |
V353A |
probably benign |
Het |
| Bbox1 |
A |
T |
2: 110,105,961 (GRCm39) |
Y194* |
probably null |
Het |
| Bltp1 |
T |
A |
3: 36,975,586 (GRCm39) |
|
probably benign |
Het |
| Bnipl |
C |
A |
3: 95,153,086 (GRCm39) |
R131L |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,643,974 (GRCm39) |
S1016P |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,867,657 (GRCm39) |
I88M |
possibly damaging |
Het |
| Cyp24a1 |
A |
T |
2: 170,338,278 (GRCm39) |
Y89N |
probably damaging |
Het |
| Ddx25 |
G |
T |
9: 35,458,122 (GRCm39) |
N332K |
possibly damaging |
Het |
| Dnaaf5 |
C |
T |
5: 139,163,671 (GRCm39) |
Q348* |
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,550,494 (GRCm39) |
I3264N |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,763,808 (GRCm39) |
|
probably null |
Het |
| Farsa |
C |
T |
8: 85,594,455 (GRCm39) |
A368V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,403,368 (GRCm39) |
Y40H |
probably damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,734,208 (GRCm39) |
|
probably benign |
Het |
| Gm5422 |
A |
G |
10: 31,126,003 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr135 |
A |
G |
12: 72,116,732 (GRCm39) |
I345T |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,314,389 (GRCm39) |
V3616I |
probably benign |
Het |
| Kif9 |
A |
T |
9: 110,339,538 (GRCm39) |
K460M |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,353,922 (GRCm39) |
E426G |
probably benign |
Het |
| Mdh1 |
A |
T |
11: 21,509,786 (GRCm39) |
N196K |
probably benign |
Het |
| Nfkb1 |
A |
T |
3: 135,310,968 (GRCm39) |
C444S |
probably benign |
Het |
| Pfkfb2 |
G |
A |
1: 130,635,319 (GRCm39) |
R81C |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,407,327 (GRCm39) |
V526A |
possibly damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,511,874 (GRCm39) |
V951E |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,226,809 (GRCm39) |
L1026Q |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,247,156 (GRCm39) |
N263S |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,226,990 (GRCm39) |
F659I |
probably damaging |
Het |
| Prr14 |
A |
G |
7: 127,075,108 (GRCm39) |
I69M |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Senp5 |
T |
C |
16: 31,808,690 (GRCm39) |
H161R |
probably benign |
Het |
| Spc25 |
A |
G |
2: 69,035,273 (GRCm39) |
|
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,647,321 (GRCm39) |
V536A |
probably damaging |
Het |
| Susd2 |
A |
G |
10: 75,476,772 (GRCm39) |
S84P |
possibly damaging |
Het |
| Tacc1 |
A |
C |
8: 25,649,797 (GRCm39) |
L768V |
probably damaging |
Het |
| Tbpl2 |
A |
T |
2: 23,986,531 (GRCm39) |
I5N |
probably benign |
Het |
| Tmc2 |
A |
G |
2: 130,071,126 (GRCm39) |
D285G |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,199,889 (GRCm39) |
R4591H |
possibly damaging |
Het |
| Zfc3h1 |
T |
A |
10: 115,263,004 (GRCm39) |
D1739E |
probably benign |
Het |
| Zfp26 |
A |
G |
9: 20,352,744 (GRCm39) |
V107A |
probably damaging |
Het |
|
| Other mutations in Trmt44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01325:Trmt44
|
APN |
5 |
35,726,147 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02139:Trmt44
|
APN |
5 |
35,726,143 (GRCm39) |
nonsense |
probably null |
|
|
IGL02223:Trmt44
|
APN |
5 |
35,731,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02667:Trmt44
|
APN |
5 |
35,728,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03144:Trmt44
|
APN |
5 |
35,721,766 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0207:Trmt44
|
UTSW |
5 |
35,730,261 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0540:Trmt44
|
UTSW |
5 |
35,726,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0607:Trmt44
|
UTSW |
5 |
35,726,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1681:Trmt44
|
UTSW |
5 |
35,727,321 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1746:Trmt44
|
UTSW |
5 |
35,721,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2128:Trmt44
|
UTSW |
5 |
35,732,176 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4190:Trmt44
|
UTSW |
5 |
35,732,314 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4611:Trmt44
|
UTSW |
5 |
35,732,351 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4684:Trmt44
|
UTSW |
5 |
35,715,387 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5114:Trmt44
|
UTSW |
5 |
35,722,812 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5951:Trmt44
|
UTSW |
5 |
35,730,032 (GRCm39) |
unclassified |
probably benign |
|
|
R6125:Trmt44
|
UTSW |
5 |
35,722,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7131:Trmt44
|
UTSW |
5 |
35,728,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7239:Trmt44
|
UTSW |
5 |
35,732,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7265:Trmt44
|
UTSW |
5 |
35,721,647 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7561:Trmt44
|
UTSW |
5 |
35,715,336 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8543:Trmt44
|
UTSW |
5 |
35,732,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8552:Trmt44
|
UTSW |
5 |
35,722,744 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8560:Trmt44
|
UTSW |
5 |
35,715,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8850:Trmt44
|
UTSW |
5 |
35,721,673 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9209:Trmt44
|
UTSW |
5 |
35,731,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9330:Trmt44
|
UTSW |
5 |
35,727,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9588:Trmt44
|
UTSW |
5 |
35,727,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation