Incidental Mutation 'R7044:Trmt11'
| ID |
547216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trmt11
|
| Ensembl Gene |
ENSMUSG00000019792 |
| Gene Name |
tRNA methyltransferase 11 |
| Synonyms |
2410075D05Rik, 3110045I18Rik |
| MMRRC Submission |
045143-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.852)
|
| Stock # |
R7044 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
30410221-30476745 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30466930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 72
(F72L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149782
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019927]
[ENSMUST00000215595]
[ENSMUST00000216790]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019927
AA Change: V99A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000019927
Gene: ENSMUSG00000019792
AA Change: V99A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0020
|
189 |
324 |
1.9e-14 |
PFAM |
|
Pfam:Methyltransf_26
|
216 |
373 |
1.2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215041
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215595
AA Change: F72L
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216705
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216790
AA Change: F72L
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd6 |
T |
A |
4: 32,815,260 (GRCm39) |
Q448L |
possibly damaging |
Het |
| Appl1 |
A |
G |
14: 26,650,634 (GRCm39) |
S513P |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,881,134 (GRCm39) |
K1066* |
probably null |
Het |
| Ckap5 |
T |
C |
2: 91,407,946 (GRCm39) |
I824T |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,651,361 (GRCm39) |
D1169N |
possibly damaging |
Het |
| Ctbp2 |
T |
C |
7: 132,616,831 (GRCm39) |
R35G |
possibly damaging |
Het |
| Dcdc2c |
T |
C |
12: 28,520,493 (GRCm39) |
|
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,301,634 (GRCm39) |
|
probably null |
Het |
| Fat4 |
G |
C |
3: 39,064,959 (GRCm39) |
A4972P |
probably benign |
Het |
| Fat4 |
C |
T |
3: 39,064,960 (GRCm39) |
A4972V |
probably benign |
Het |
| Fbxl8 |
T |
A |
8: 105,993,647 (GRCm39) |
M1K |
probably null |
Het |
| Glyat |
T |
C |
19: 12,627,629 (GRCm39) |
S75P |
probably benign |
Het |
| Gm3543 |
T |
A |
14: 41,802,023 (GRCm39) |
I154F |
probably damaging |
Het |
| Gm4565 |
T |
A |
7: 22,282,795 (GRCm39) |
M8L |
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,240,616 (GRCm39) |
Q269R |
probably benign |
Het |
| Hjv |
C |
A |
3: 96,434,790 (GRCm39) |
H176Q |
possibly damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,060 (GRCm39) |
H483R |
possibly damaging |
Het |
| Il25 |
G |
A |
14: 55,170,615 (GRCm39) |
A63T |
probably benign |
Het |
| Krt27 |
T |
A |
11: 99,237,640 (GRCm39) |
N366I |
probably benign |
Het |
| Mfge8 |
A |
G |
7: 78,792,268 (GRCm39) |
V219A |
probably benign |
Het |
| Nrbp1 |
T |
C |
5: 31,407,290 (GRCm39) |
V373A |
probably damaging |
Het |
| Or4c100 |
A |
G |
2: 88,356,830 (GRCm39) |
N301S |
probably benign |
Het |
| Otulinl |
A |
G |
15: 27,657,321 (GRCm39) |
|
probably benign |
Het |
| Pcdh20 |
A |
G |
14: 88,706,607 (GRCm39) |
I231T |
probably damaging |
Het |
| Pfkp |
A |
G |
13: 6,631,603 (GRCm39) |
W151R |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,286,013 (GRCm39) |
I1084T |
probably benign |
Het |
| Poteg |
T |
C |
8: 27,939,923 (GRCm39) |
C27R |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,044,345 (GRCm39) |
V1266M |
probably damaging |
Het |
| Rpa1 |
T |
C |
11: 75,203,628 (GRCm39) |
D358G |
probably damaging |
Het |
| Slx9 |
T |
C |
10: 77,350,226 (GRCm39) |
D35G |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,259,965 (GRCm39) |
S495P |
probably damaging |
Het |
| Surf6 |
A |
G |
2: 26,789,368 (GRCm39) |
I123T |
probably damaging |
Het |
| Sybu |
A |
T |
15: 44,541,091 (GRCm39) |
S324T |
possibly damaging |
Het |
| Trim3 |
A |
T |
7: 105,267,421 (GRCm39) |
S319R |
probably damaging |
Het |
| Tsks |
C |
T |
7: 44,593,216 (GRCm39) |
R61W |
probably damaging |
Het |
| Ube2k |
T |
C |
5: 65,738,772 (GRCm39) |
V36A |
possibly damaging |
Het |
| Ube3a |
T |
C |
7: 58,938,161 (GRCm39) |
V688A |
probably damaging |
Het |
| Vegfc |
A |
G |
8: 54,610,080 (GRCm39) |
K79E |
possibly damaging |
Het |
| Vmn1r77 |
G |
A |
7: 11,775,761 (GRCm39) |
R179Q |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,134,629 (GRCm39) |
F16I |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,841,248 (GRCm39) |
|
probably benign |
Het |
| Zfp600 |
C |
T |
4: 146,131,892 (GRCm39) |
Q187* |
probably null |
Het |
|
| Other mutations in Trmt11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Trmt11
|
APN |
10 |
30,442,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01586:Trmt11
|
APN |
10 |
30,473,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02307:Trmt11
|
APN |
10 |
30,470,150 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02319:Trmt11
|
APN |
10 |
30,436,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02622:Trmt11
|
APN |
10 |
30,435,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0047:Trmt11
|
UTSW |
10 |
30,411,239 (GRCm39) |
missense |
probably benign |
|
|
R0047:Trmt11
|
UTSW |
10 |
30,411,239 (GRCm39) |
missense |
probably benign |
|
|
R0269:Trmt11
|
UTSW |
10 |
30,463,485 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1240:Trmt11
|
UTSW |
10 |
30,466,821 (GRCm39) |
intron |
probably benign |
|
|
R1694:Trmt11
|
UTSW |
10 |
30,411,221 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1765:Trmt11
|
UTSW |
10 |
30,435,184 (GRCm39) |
missense |
probably benign |
|
|
R2293:Trmt11
|
UTSW |
10 |
30,423,744 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2295:Trmt11
|
UTSW |
10 |
30,423,744 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2857:Trmt11
|
UTSW |
10 |
30,423,744 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4631:Trmt11
|
UTSW |
10 |
30,435,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5684:Trmt11
|
UTSW |
10 |
30,423,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5952:Trmt11
|
UTSW |
10 |
30,436,838 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6022:Trmt11
|
UTSW |
10 |
30,463,497 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7459:Trmt11
|
UTSW |
10 |
30,466,039 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7538:Trmt11
|
UTSW |
10 |
30,436,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Trmt11
|
UTSW |
10 |
30,463,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7728:Trmt11
|
UTSW |
10 |
30,463,497 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8116:Trmt11
|
UTSW |
10 |
30,442,490 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8988:Trmt11
|
UTSW |
10 |
30,467,027 (GRCm39) |
missense |
probably benign |
|
|
R9225:Trmt11
|
UTSW |
10 |
30,423,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9507:Trmt11
|
UTSW |
10 |
30,434,938 (GRCm39) |
nonsense |
probably null |
|
|
R9555:Trmt11
|
UTSW |
10 |
30,470,150 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9690:Trmt11
|
UTSW |
10 |
30,436,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTAGGGTGCACTGACTAC -3'
(R):5'- GCTGTCTGAACTAAGTTCTTTACTGAG -3'
Sequencing Primer
(F):5'- TGACTACAGGCTCTGGGTCAG -3'
(R):5'- AGTTCTTTACTGAGGTTAGTACCAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation