Incidental Mutation 'R4190:Trmt44'
ID |
319907 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trmt44
|
Ensembl Gene |
ENSMUSG00000029097 |
Gene Name |
tRNA methyltransferase 44 |
Synonyms |
2310079F23Rik |
MMRRC Submission |
041021-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R4190 (G1)
|
Quality Score |
184 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
35713547-35732414 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 35732314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 26
(V26L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030980
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030980]
|
AlphaFold |
Q9D2Q2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030980
AA Change: V26L
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000030980 Gene: ENSMUSG00000029097 AA Change: V26L
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
|
Meta Mutation Damage Score |
0.2578 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
96% (50/52) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot4 |
T |
C |
12: 84,089,948 (GRCm39) |
|
probably benign |
Het |
Adgre1 |
A |
G |
17: 57,709,811 (GRCm39) |
Y156C |
unknown |
Het |
Ankrd13b |
G |
A |
11: 77,367,201 (GRCm39) |
A21V |
probably damaging |
Het |
Atf7ip |
T |
C |
6: 136,564,499 (GRCm39) |
V914A |
probably damaging |
Het |
C230029F24Rik |
AGAAAG |
A |
1: 49,350,088 (GRCm39) |
|
noncoding transcript |
Het |
Calcr |
T |
A |
6: 3,717,106 (GRCm39) |
D118V |
possibly damaging |
Het |
Cdc42bpg |
T |
C |
19: 6,371,711 (GRCm39) |
V1330A |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,720,885 (GRCm39) |
E2567G |
unknown |
Het |
Ctse |
T |
A |
1: 131,590,479 (GRCm39) |
V67D |
probably benign |
Het |
Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
Dipk1b |
T |
C |
2: 26,526,193 (GRCm39) |
Y376H |
probably damaging |
Het |
Fahd2a |
C |
T |
2: 127,280,486 (GRCm39) |
V156I |
probably benign |
Het |
Fam185a |
T |
A |
5: 21,630,122 (GRCm39) |
|
probably benign |
Het |
Fam234a |
A |
T |
17: 26,432,834 (GRCm39) |
L467Q |
probably damaging |
Het |
Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
Heatr3 |
T |
C |
8: 88,864,888 (GRCm39) |
|
probably benign |
Het |
Herc2 |
T |
C |
7: 55,772,196 (GRCm39) |
V1125A |
probably benign |
Het |
Itga11 |
T |
A |
9: 62,639,391 (GRCm39) |
C129S |
probably damaging |
Het |
Lama2 |
A |
G |
10: 27,142,660 (GRCm39) |
L606P |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
Mtmr10 |
G |
T |
7: 63,963,934 (GRCm39) |
W223L |
probably benign |
Het |
Nlgn1 |
T |
A |
3: 25,488,062 (GRCm39) |
T758S |
probably benign |
Het |
Nr4a1 |
T |
C |
15: 101,171,993 (GRCm39) |
S556P |
probably damaging |
Het |
Or4c126 |
C |
A |
2: 89,823,918 (GRCm39) |
Y60* |
probably null |
Het |
Or5p64 |
T |
C |
7: 107,855,330 (GRCm39) |
D5G |
probably benign |
Het |
Or6c201 |
T |
C |
10: 128,968,836 (GRCm39) |
N267S |
possibly damaging |
Het |
Or6c33 |
A |
T |
10: 129,853,847 (GRCm39) |
I206F |
probably damaging |
Het |
Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
Plscr5 |
T |
C |
9: 92,080,651 (GRCm39) |
S46P |
probably benign |
Het |
Ppp2r3d |
T |
C |
9: 124,424,123 (GRCm38) |
|
probably benign |
Het |
Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
Sorcs3 |
T |
C |
19: 48,737,812 (GRCm39) |
V743A |
possibly damaging |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Stab2 |
G |
T |
10: 86,714,808 (GRCm39) |
N119K |
probably damaging |
Het |
Telo2 |
T |
C |
17: 25,320,987 (GRCm39) |
T743A |
probably benign |
Het |
Trav6-1 |
A |
G |
14: 52,875,976 (GRCm39) |
N2S |
probably benign |
Het |
Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
Vmn2r84 |
A |
T |
10: 130,227,163 (GRCm39) |
L225* |
probably null |
Het |
Vmn2r87 |
A |
G |
10: 130,308,556 (GRCm39) |
Y561H |
probably damaging |
Het |
Yars1 |
T |
A |
4: 129,093,820 (GRCm39) |
C60* |
probably null |
Het |
Zfp202 |
T |
C |
9: 40,122,633 (GRCm39) |
V465A |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATAGCGAGTTCAGGTCAG -3'
(R):5'- CATTCAGTCGTTGAGGACCC -3'
Sequencing Primer
(F):5'- AGTTCAGGTCAGCCGCG -3'
(R):5'- AGGAGGCTGTATCCACTGC -3'
|
Posted On |
2015-06-10 |