Incidental Mutation 'IGL02139:Trmt44'
| ID |
281468 |
| 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 # |
IGL02139
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
35713547-35732414 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 35726143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 345
(K345*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030980]
|
| AlphaFold |
Q9D2Q2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030980
AA Change: K345*
|
| SMART Domains |
Protein: ENSMUSP00000030980
Gene: ENSMUSG00000029097
AA Change: K345*
| 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 |
probably benign
Transcript: ENSMUST00000128195
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
G |
A |
4: 124,504,369 (GRCm39) |
T61M |
unknown |
Het |
| Adam34l |
T |
A |
8: 44,078,615 (GRCm39) |
R536S |
probably benign |
Het |
| Ambn |
T |
C |
5: 88,613,149 (GRCm39) |
F217L |
probably benign |
Het |
| Cast |
T |
C |
13: 74,876,484 (GRCm39) |
D121G |
possibly damaging |
Het |
| Clmn |
T |
C |
12: 104,747,358 (GRCm39) |
I730V |
probably benign |
Het |
| Cryzl1 |
T |
C |
16: 91,509,139 (GRCm39) |
K54R |
possibly damaging |
Het |
| Cyp3a16 |
A |
G |
5: 145,392,290 (GRCm39) |
S222P |
probably benign |
Het |
| Dcstamp |
T |
C |
15: 39,617,854 (GRCm39) |
S88P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,020,243 (GRCm39) |
D906G |
possibly damaging |
Het |
| Fam193a |
A |
G |
5: 34,602,081 (GRCm39) |
T428A |
probably benign |
Het |
| Fbxw16 |
T |
G |
9: 109,265,754 (GRCm39) |
D355A |
probably benign |
Het |
| Focad |
T |
C |
4: 88,047,291 (GRCm39) |
|
probably null |
Het |
| Ftsj3 |
G |
A |
11: 106,145,489 (GRCm39) |
P82S |
possibly damaging |
Het |
| Grwd1 |
A |
T |
7: 45,476,667 (GRCm39) |
H307Q |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 124,134,307 (GRCm39) |
F289S |
probably damaging |
Het |
| Igkc |
C |
T |
6: 70,703,559 (GRCm39) |
R47* |
probably null |
Het |
| Lcn3 |
T |
C |
2: 25,656,646 (GRCm39) |
F100S |
possibly damaging |
Het |
| Lmnb1 |
T |
C |
18: 56,882,871 (GRCm39) |
F572S |
probably benign |
Het |
| Mrps17 |
T |
A |
5: 129,793,860 (GRCm39) |
I18N |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,687,275 (GRCm39) |
V127I |
probably benign |
Het |
| Or2l13b |
T |
C |
16: 19,349,640 (GRCm39) |
D10G |
probably benign |
Het |
| Or4c35 |
T |
C |
2: 89,808,773 (GRCm39) |
V217A |
possibly damaging |
Het |
| Or5g23 |
T |
A |
2: 85,438,574 (GRCm39) |
K227* |
probably null |
Het |
| Pcdhb21 |
A |
G |
18: 37,648,299 (GRCm39) |
D476G |
probably damaging |
Het |
| Pkd2l2 |
T |
A |
18: 34,545,768 (GRCm39) |
Y56* |
probably null |
Het |
| Pld1 |
C |
A |
3: 28,174,961 (GRCm39) |
D86E |
probably damaging |
Het |
| Plpp1 |
A |
G |
13: 112,993,433 (GRCm39) |
T122A |
probably benign |
Het |
| Prkag3 |
A |
G |
1: 74,779,883 (GRCm39) |
I484T |
probably benign |
Het |
| Prl7d1 |
T |
A |
13: 27,896,066 (GRCm39) |
I104F |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,984,876 (GRCm39) |
S1540P |
probably damaging |
Het |
| Pyroxd1 |
T |
G |
6: 142,300,457 (GRCm39) |
S196A |
probably benign |
Het |
| Rbm42 |
G |
A |
7: 30,345,130 (GRCm39) |
P185S |
unknown |
Het |
| Ror2 |
T |
A |
13: 53,265,200 (GRCm39) |
I619F |
probably damaging |
Het |
| Slitrk4 |
T |
G |
X: 63,314,555 (GRCm39) |
E704A |
probably benign |
Het |
| Sycp1 |
A |
G |
3: 102,772,430 (GRCm39) |
V626A |
probably benign |
Het |
| Ugt1a6b |
T |
A |
1: 88,035,527 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
T |
A |
9: 120,970,897 (GRCm39) |
|
probably null |
Het |
| Zfp618 |
G |
T |
4: 63,051,773 (GRCm39) |
K758N |
probably damaging |
Het |
| Zfp819 |
G |
T |
7: 43,261,534 (GRCm39) |
|
probably null |
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 |
|
IGL02223:Trmt44
|
APN |
5 |
35,731,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02273:Trmt44
|
APN |
5 |
35,731,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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