Incidental Mutation 'R6906:Trmt1l'
| ID |
538763 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt1l
|
| Ensembl Gene |
ENSMUSG00000053286 |
| Gene Name |
tRNA methyltransferase 1 like |
| Synonyms |
1190005F20Rik, Trm1-like |
| MMRRC Submission |
044998-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6906 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
151304293-151333912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 151327926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 479
(Y479H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065625]
[ENSMUST00000189655]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065625
AA Change: Y479H
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000068309
Gene: ENSMUSG00000053286
AA Change: Y479H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
70 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
116 |
142 |
7.49e0 |
SMART |
|
ZnF_C2H2
|
181 |
203 |
2.49e-1 |
SMART |
|
Pfam:TRM
|
220 |
563 |
6.9e-60 |
PFAM |
|
Pfam:TRM
|
595 |
684 |
6.8e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189655
|
| SMART Domains |
Protein: ENSMUSP00000140009
Gene: ENSMUSG00000053286
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
28 |
50 |
1.1e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| Validation Efficiency |
98% (45/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has some similarity to N2,N2-dimethylguanosine tRNA methyltransferase from other organisms. Studies of the mouse ortholog have shown that this protein plays a role in motor coordination and exploratory behavior, and it may also be involved in modulating postnatal neuronal functions. Alternatively spliced transcripts have been identified for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele are viable and anatomically normal but display significantly impaired motor coordination and aberrant exploratory behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
A |
G |
5: 24,773,840 (GRCm39) |
F350L |
possibly damaging |
Het |
| Ahnak2 |
T |
A |
12: 112,748,933 (GRCm39) |
T305S |
probably benign |
Het |
| Anp32a |
A |
G |
9: 62,284,851 (GRCm39) |
|
probably benign |
Het |
| Aplf |
A |
G |
6: 87,607,068 (GRCm39) |
S449P |
possibly damaging |
Het |
| Arl6ip4 |
A |
G |
5: 124,254,614 (GRCm39) |
R36G |
possibly damaging |
Het |
| Ascc1 |
G |
A |
10: 59,840,674 (GRCm39) |
D12N |
probably benign |
Het |
| Bin1 |
C |
A |
18: 32,554,978 (GRCm39) |
H243Q |
probably benign |
Het |
| Ccdc168 |
C |
T |
1: 44,095,173 (GRCm39) |
S1975N |
probably benign |
Het |
| Ccdc7a |
C |
A |
8: 129,662,162 (GRCm39) |
V547L |
unknown |
Het |
| Cntnap5c |
T |
A |
17: 58,702,302 (GRCm39) |
N1207K |
probably benign |
Het |
| Coro7 |
C |
A |
16: 4,451,168 (GRCm39) |
R507L |
probably benign |
Het |
| Crtap |
T |
A |
9: 114,210,700 (GRCm39) |
K291N |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,710,569 (GRCm39) |
T1569A |
probably benign |
Het |
| Dmrta1 |
A |
G |
4: 89,580,203 (GRCm39) |
T388A |
probably benign |
Het |
| Ehd3 |
T |
C |
17: 74,137,333 (GRCm39) |
F501L |
probably damaging |
Het |
| Fbn2 |
A |
C |
18: 58,204,891 (GRCm39) |
L1184R |
possibly damaging |
Het |
| Fhip1b |
G |
A |
7: 105,037,476 (GRCm39) |
T369I |
probably damaging |
Het |
| Hsf1 |
T |
C |
15: 76,361,919 (GRCm39) |
|
probably null |
Het |
| Hycc1 |
A |
T |
5: 24,204,956 (GRCm39) |
W12R |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,762,437 (GRCm39) |
H810R |
possibly damaging |
Het |
| Lrp5 |
A |
T |
19: 3,672,638 (GRCm39) |
I557N |
probably damaging |
Het |
| Lypd1 |
T |
C |
1: 125,838,196 (GRCm39) |
E41G |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,724,853 (GRCm39) |
Y443C |
probably damaging |
Het |
| Muc2 |
A |
G |
7: 141,284,976 (GRCm39) |
D871G |
probably damaging |
Het |
| Nup85 |
T |
A |
11: 115,471,769 (GRCm39) |
Y198N |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,923,744 (GRCm39) |
M6578L |
possibly damaging |
Het |
| Or8h7 |
T |
C |
2: 86,721,091 (GRCm39) |
T143A |
probably benign |
Het |
| Osbpl5 |
G |
C |
7: 143,248,065 (GRCm39) |
Q667E |
probably damaging |
Het |
| Ovgp1 |
T |
A |
3: 105,894,189 (GRCm39) |
|
probably benign |
Het |
| Prl8a2 |
T |
A |
13: 27,532,900 (GRCm39) |
N37K |
probably benign |
Het |
| Ptprf |
A |
T |
4: 118,126,474 (GRCm39) |
I93N |
possibly damaging |
Het |
| Rnf112 |
T |
C |
11: 61,341,215 (GRCm39) |
S457G |
probably null |
Het |
| Sema3e |
A |
G |
5: 14,290,601 (GRCm39) |
D562G |
probably damaging |
Het |
| Sesn3 |
A |
G |
9: 14,236,937 (GRCm39) |
M472V |
probably damaging |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Shc3 |
T |
C |
13: 51,620,595 (GRCm39) |
T144A |
probably damaging |
Het |
| Sis |
A |
G |
3: 72,826,818 (GRCm39) |
L1287P |
probably damaging |
Het |
| Srrm2 |
C |
T |
17: 24,039,337 (GRCm39) |
P2090S |
probably damaging |
Het |
| Syne2 |
T |
G |
12: 76,042,760 (GRCm39) |
D3910E |
possibly damaging |
Het |
| Tcaim |
C |
T |
9: 122,663,839 (GRCm39) |
T443I |
probably benign |
Het |
| Tex19.1 |
T |
C |
11: 121,037,948 (GRCm39) |
V102A |
probably benign |
Het |
| Tpd52l1 |
T |
G |
10: 31,208,950 (GRCm39) |
T168P |
possibly damaging |
Het |
| Trdn |
G |
A |
10: 33,109,944 (GRCm39) |
C294Y |
probably benign |
Het |
| Vmn1r171 |
G |
A |
7: 23,331,804 (GRCm39) |
V10I |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,351,128 (GRCm39) |
D80E |
possibly damaging |
Het |
| Zcchc4 |
A |
G |
5: 52,980,976 (GRCm39) |
K473E |
possibly damaging |
Het |
|
| Other mutations in Trmt1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Trmt1l
|
APN |
1 |
151,318,463 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02175:Trmt1l
|
APN |
1 |
151,324,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02348:Trmt1l
|
APN |
1 |
151,325,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02397:Trmt1l
|
APN |
1 |
151,315,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02582:Trmt1l
|
APN |
1 |
151,309,536 (GRCm39) |
splice site |
probably benign |
|
|
IGL03150:Trmt1l
|
APN |
1 |
151,329,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03220:Trmt1l
|
APN |
1 |
151,316,692 (GRCm39) |
splice site |
probably benign |
|
|
Canyonlands
|
UTSW |
1 |
151,329,799 (GRCm39) |
nonsense |
probably null |
|
|
splendiforous
|
UTSW |
1 |
151,328,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03014:Trmt1l
|
UTSW |
1 |
151,333,681 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0067:Trmt1l
|
UTSW |
1 |
151,324,131 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0067:Trmt1l
|
UTSW |
1 |
151,324,131 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0240:Trmt1l
|
UTSW |
1 |
151,333,205 (GRCm39) |
unclassified |
probably benign |
|
|
R0267:Trmt1l
|
UTSW |
1 |
151,333,426 (GRCm39) |
unclassified |
probably benign |
|
|
R2084:Trmt1l
|
UTSW |
1 |
151,316,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Trmt1l
|
UTSW |
1 |
151,311,594 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2338:Trmt1l
|
UTSW |
1 |
151,304,710 (GRCm39) |
intron |
probably benign |
|
|
R2408:Trmt1l
|
UTSW |
1 |
151,315,267 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2429:Trmt1l
|
UTSW |
1 |
151,309,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2520:Trmt1l
|
UTSW |
1 |
151,329,696 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3972:Trmt1l
|
UTSW |
1 |
151,309,634 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4092:Trmt1l
|
UTSW |
1 |
151,330,784 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4361:Trmt1l
|
UTSW |
1 |
151,311,626 (GRCm39) |
intron |
probably benign |
|
|
R4411:Trmt1l
|
UTSW |
1 |
151,327,905 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4419:Trmt1l
|
UTSW |
1 |
151,316,559 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4518:Trmt1l
|
UTSW |
1 |
151,324,094 (GRCm39) |
nonsense |
probably null |
|
|
R4614:Trmt1l
|
UTSW |
1 |
151,329,799 (GRCm39) |
nonsense |
probably null |
|
|
R4617:Trmt1l
|
UTSW |
1 |
151,329,799 (GRCm39) |
nonsense |
probably null |
|
|
R4618:Trmt1l
|
UTSW |
1 |
151,329,799 (GRCm39) |
nonsense |
probably null |
|
|
R4647:Trmt1l
|
UTSW |
1 |
151,333,632 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4653:Trmt1l
|
UTSW |
1 |
151,315,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4734:Trmt1l
|
UTSW |
1 |
151,318,388 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4873:Trmt1l
|
UTSW |
1 |
151,330,755 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4875:Trmt1l
|
UTSW |
1 |
151,330,755 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5026:Trmt1l
|
UTSW |
1 |
151,316,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5528:Trmt1l
|
UTSW |
1 |
151,330,746 (GRCm39) |
missense |
probably benign |
|
|
R5587:Trmt1l
|
UTSW |
1 |
151,311,455 (GRCm39) |
intron |
probably benign |
|
|
R5872:Trmt1l
|
UTSW |
1 |
151,316,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6060:Trmt1l
|
UTSW |
1 |
151,333,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6169:Trmt1l
|
UTSW |
1 |
151,304,704 (GRCm39) |
intron |
probably benign |
|
|
R6333:Trmt1l
|
UTSW |
1 |
151,329,685 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7269:Trmt1l
|
UTSW |
1 |
151,333,539 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7574:Trmt1l
|
UTSW |
1 |
151,316,591 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7740:Trmt1l
|
UTSW |
1 |
151,316,639 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7760:Trmt1l
|
UTSW |
1 |
151,318,425 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7984:Trmt1l
|
UTSW |
1 |
151,311,489 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8257:Trmt1l
|
UTSW |
1 |
151,304,629 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8286:Trmt1l
|
UTSW |
1 |
151,333,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8439:Trmt1l
|
UTSW |
1 |
151,325,727 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8451:Trmt1l
|
UTSW |
1 |
151,324,039 (GRCm39) |
missense |
unknown |
|
|
R8514:Trmt1l
|
UTSW |
1 |
151,329,742 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9287:Trmt1l
|
UTSW |
1 |
151,328,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9423:Trmt1l
|
UTSW |
1 |
151,325,817 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9622:Trmt1l
|
UTSW |
1 |
151,304,710 (GRCm39) |
nonsense |
probably null |
|
|
X0039:Trmt1l
|
UTSW |
1 |
151,330,741 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1176:Trmt1l
|
UTSW |
1 |
151,328,864 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Z1187:Trmt1l
|
UTSW |
1 |
151,333,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1189:Trmt1l
|
UTSW |
1 |
151,333,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1190:Trmt1l
|
UTSW |
1 |
151,333,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1192:Trmt1l
|
UTSW |
1 |
151,333,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACACAAAGGGAATGATGAGCCATC -3'
(R):5'- AGTTCACCTCTCCAGCAGTG -3'
Sequencing Primer
(F):5'- AGGCCATCTTCTGATACATATGCAGC -3'
(R):5'- TCCAGCAGTGGTCTCCGAAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation